quarterly With (Fragile X) Children X Foundation The National Fragile Join Us in Celebrating! Inside: Employment First!

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1 The Natioal Fragile quarterly X Foudatio A Joural for Families ad Professioals Iside: colums Readers Respod... 1 From the Executive Director 2 Beig Fair Public Policy Update 3 It s Time to TEAM Up for Our Kids Brade o Behavior 4 Navigatig the Road to Iclusio Support 6 Guardiaship for Your Child fragile x sydrome (FXS) Sleep i Childre With Fragile X Sydrome: 8 A Bio-Psycho-Social Approach With (Fragile X) Childre Pg. 12 Cover Story 12 Married...With (Fragile X) Childre Therapy I Actio 14 Doggoe It, Matras Are Great for Learig!! research, reports ad aoucemets Focus o Voluteers 10 Four Who (Cotiue to) Step Up mglur5: A Primer 16 Employmet First! 18 NFXF Jois Growig Chorus o Job Rights for People With Disabilities Focus o Fu draisig 22 Sprig Fragile X Fudraisig Fu New Board Members 24 Employmet First! Self-Determiatio Movemet Gais Tractio Pg. 18 Joi Us i Celebratig! See page 23 Issue 41 Jue 2011

2 What Is Fragile X? The term Fragile X represets a group of geetic disorders, referred to as Fragile X-associated Disorders, that have a variety of impacts o affected idividuals ad their families. The disorders iclude: Fragile X sydrome (FXS) Caused by the full mutatio of the Fragile X gee, FXS is the most commo cause of iherited metal impairmet. Its effects rage from learig disabilities to severe metal retardatio ad autism. Symptoms ofte iclude uique physical characteristics, behavioral disorders, ad delays i speech ad laguage developmet. Fragile X-associated tremor/ataxia sydrome (FXTAS) A coditio affectig some male (ad i rare cases, female) carriers of the premutatio over age 50, causig balace, tremor ad memory problems. Fragile X-associated primary ovaria isufficiecy (FXPOI, or early meopause) A coditio affectig some female carriers of the premutatio. Fragile X ca be passed o i a family by idividuals with o apparet sig of the coditio. I some families, multiple geeratios are affected, while i others, it may cause problems i oly oe perso. Sice 1984, The Natioal Fragile X Foudatio (NFXF) has bee helpig idividuals with Fragile X, their families, ad the professioals who work with them. As research ito Fragile X cotiues, our uderstadig of who it affects ad how it affects them will grow. The NFXF is committed to: 1) supportig ad fudig all efforts that will icrease awareess, 2) improvig educatio, 3) advacig research toward improved treatmets ad a ultimate cure, ad 4) keepig the Fragile X commuity always well-iformed about the progress of these efforts. The Fragile X Quarterly is published four times aually by The Natioal Fragile X Foudatio. The joural is distributed to members ad others by request. Please cotact the foudatio regardig cotet or distributio. Maagig Editor: Adrew Hidas editor@fragilex.org Executive Editor: Robert Miller The Natioal Fragile X Foudatio PO Box 37 Walut Creek, Califoria Phoe: (925) NATLFX@FragileX.org Toll free: (800) Web: Fax: (925) The NFXF Staff: Robert Miller Executive Director Liae Abrams, MS, CGC Geetic Specialist Phil Campbell Admiistrative & Program Assistat Jeffrey Cohe Director of Govermet Affairs & Advocacy Sam Jacob Assistat Shippig Clerk Teddy Palmer Database Specialist Joshua Prasad Shippig Clerk David Salomo Meetig & Techology Coordiator Lida Sorese, MS Associate Director Megha McMurray Developmet Coordiator Jaye Dixo Weber Coordiator of Support Services services offered: Telephoe cosultatio ad basic iformatioal packet free Educatioal resources (books, videotapes, CD) fee Local, atioal, ad iteratioal coferece sposorship Referral to medical, geetic ad support services free Legislative advocacy Research grats Membership with quarterly joural fee Services offered to: Idividuals, families, professioals, istitutios, ad studets ivolved with or impacted by Fragile X Service Referral: Self or professioal Eligibility: All Service Area: Natioal ad iteratioal Dues-Payig Members: Over 1,100 Phoe, ad Postal Cotacts: Approximately 10,000 aually Uique Website Visitors: Over 600,000 aually Fouded: 1984 as a public o-profit 501(c)(3) charitable orgaizatio Federal Tax ID Number: Fudig: Idividual cotributios, family ad corporate foudatios, govermet grats Missio Statemet The Natioal Fragile X Foudatio uites the Fragile X commuity to: Erich lives through educatioal ad emotioal support Promote public ad professioal awareess Advace research toward improved treatmets ad a cure for Fragile X. Cotributig Editor: Desig: Lida Sorese Kare Ashto

3 READERS RESPOND The Natioal Fragile quarterly X Foudatio We get may thoughtful letters from readers affected by somethig they read i the Fragile X Quarterly. So it is a pleasure to fially act o our log-held itetio to istitute a Letters sectio so those voices ca be shared with a larger audiece, ad the dialogue o all thigs Fragile X ca cotiue to erich us all. Please: if you are itrigued, ispired, cocered, cofused, overjoyed, or otherwise moved by somethig i these pages, we urge you ot to stuff the feelig away or cofie coversatio about it to your spouse or fried. Istead, dash off a to Editor@FragileX.org, or do it the old-fashioed-but-still-viable way of sail-mailig a ote to: Editor, Fragile X Quarterly, 1615 Boaza Street, Suite 202, Walut Creek, CA Adrew Hidas Maagig Editor Thak you for your recet article by Carly Heyma ( Livig With FXPOI, March, 2011), which highlighted her experiece with FXPOI ad the effect it has had o her life. As a 33-year-old woma with FXPOI, I uderstad completely the author s struggles ad appreciate her hoesty. It is easy to thik of FXPOI as the least problematic effect of FX, because it is somethig that is ot obvious, or outwardly debilitatig, or easily discussed i everyday coversatio. However, its impact is tremedous: ot oly do sufferers usually lose the ability to have a geetic child, as I did, but they are riddled with the symptoms of meopause at a very youg age. This goes a log way to degrade oe s quality of life, especially if the FXPOI is ot diagosed or is ot properly maaged. Ad that said, oce it is diagosed, it is quite difficult to fid doctors who are a) familiar with it, b) willig to thik critically about it, c) sesitive to its uique issues ad challeges, ad d) kowledgeable about how to approach its treatmet. I today s world of cotroversy over hormoe replacemet therapy, the aswers are ot always so cut-addried, which makes kowledgeable ad committed doctors eve more of a essetial resource. Sadly, they are very few ad far betwee. As I imagie is the case for most wome with FXPOI, I did ot get a diagosis util I tried to coceive o my ow. Ad eve oce I got a diagosis (POF), I did ot get a explaatio (due to my FX premutatio) util I sought out a doctor who kew somethig about ovaria failure i geeral. I hope that as your orgaizatio moves forward with its efforts to educate the public ad the medical commuity, to support relevat research, ad to advocate for those of us impacted by FX, this will chage ad kowledgeable doctors will become a dime a doze. I the meatime, I am hearteed by stories like Ms. Heyma s, which brig this ofte-overlooked ad, i my opiio, uder-diagosed problem out of the closet of shame ad taboo ad ito the light of research, optimism ad acceptace. My hope is that Ms. Heyma will be able to oe day coceive via egg doatio (as I did), adopt, or fid her child i aother way, because she is right FX is a part of us, but it is ot us. We eed to work aroud it to achieve our goals of paretig ad to work with it to live the active, healthy lives we deserve. Abby Stillma Grayso Belle Mead, NJ Thak you, Robert Miller, for your colum ( Thigs You May Already Kow ) i the March, 2011 Quarterly (No. 40). It made me tearful to hear the ecouragig words that I eed to liste to the experts but that I kow my child best, ad I am his expert. Also, that our childre are lifelog learers. It ca be so discouragig as a paret whe so may do t believe i your child (especially durig this time with IEP aual reviews). Thak you for your work with Fragile X. You are appreciated! Giger Striger Colorado Sprigs, CO Last week I received the lik for the latest Fragile X Quarterly ad I must say I was very impressed with Robert Miller s colum ( Thigs You May Already Kow, March, 2011). It made so much sese ad is just so practical ad applicable. His isight is somethig I ca re-read i times of cofusio. It surely gave me a lot of clarity. Thak you. Shakii N. Kedia Fragile X Society, Mumbai, Idia The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

4 from the executive director Robert Miller Beig Fair W e all talk about beig fair. We ecourage our childre, our political leaders ad may others to be fair. We probably all have a pretty good sese of what we mea by fair whe we say it ourselves, but our perspectives may ot always be so self-evidet to others. So it is importat that we be clear about our otios of fairess, especially sice fairess has always bee, ad is becomig more so, a issue i the world of Fragile X. It s a ew era i Fragile X, ad thigs are gettig complicated. Multiple uiversities, pharmaceutical compaies, diagostic compaies ad others, from both the for-profit ad o-profits worlds, are becomig ivolved i the field. Each brigs differet capabilities ad iterests to the table, but each is also iterested i improvig the lives of families. Make o mistake: this is great ews, ad most all of the ew challeges that the ivolvemet of these parties presets to the NFXF are great challeges to have. That said, sortig out the iterests, iflueces ad priorities of all these parties ad their relatio to our foudatio ad families makes the issue of fairess more importat tha ever. To address these ew challeges, the NFXF is puttig policies ad procedures ito place to help esure that we treat all parties fairly ad keep the eeds of the Fragile X commuity of families frot ad ceter i our decisio-makig process. That is why we ow have a ethics committee that will advise the board ad staff. The committee is comprised of professioals from both iside ad outside the orgaizatio, ad it icludes parets ad those without childre. We also have a corporate advisory coucil, with represetatives from pharmaceutical ad diagostic compaies, ad our scietific & cliical advisory committee has bee subdivided ito five ew subcommittees so that they ca better focus their advice. Each of the above is a importat participat i the future of Fragile X treatmet. I share all of this with you because I wat you to kow that the NFXF is always movig forward ad doig its best to aticipate chage ad adjust our goals ad procedures accordigly. That s why we update our strategic pla aually ad why all major decisios are reviewed by board committees before beig brought to the full board. Fairess takes o icreasig importace through the life cycle of idividuals with fragile X sydrome. Parets work hard to assure their childre s equal access i the school settig, ad as the childre mature toward adulthood, it is equally importat that fair ad equal access ad supports are i place to maximize their opportuities for takig part i the everyday world of home, commuity ad work. This issue cuts right to the core of fairess. May years ago (35 to be exact), we committed as a atio to fairess for all childre with special eeds. Please read Serea Lowe s article o page 18 to better uderstad how we are ow goig to get to a better ad more fair world for adults. Fially, what is more fair tha esurig equal access to the latest treatmets by professioals kowledgeable about best practices for Fragile X-associated Disorders? That s why I am very pleased to tell you that two ew cliics (Dallas ad Housto, Texas) have bee admitted ito the Fragile X Cliical & Research Cosortium ad that aother eight will likely be submittig applicatios this year. While geographic access is oly part of the fairess equatio, it s a critical part. (Visit Cliics at to view all member cliics.) So as the NFXF moves forward, we ll cotiue to strive, o your behalf, to do the right thig, the best thig ad the fair thig. Fair eough? The NFXF is puttig policies ad procedures ito place to help esure that we treat all parties fairly ad keep the eeds of the Fragile X commuity of families frot ad ceter i our decisiomakig process. The author has bee executive director of the NFXF sice RobMiller@FragileX.org 2 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

5 public policy update J. Brad Whitus It s Time to TEAM Up for Our Kids I keep tellig myself that I remember high school like it was yesterday but maybe that s just amateur psychology to covice myself I m still youg. That psychological sleight-ofhad is becomig less ad less effective or believable as oe of my ow puts high school i her rearview mirror as this issue goes to prit. Notwithstadig her full mutatio, Keey, helped alog by a buch of tutorig ad late ights, will graduate ear the top quarter of her class. More excitig (or scary), she has bee accepted to Wester Ketucky Uiversity s music school, ad with the support of WKU s Kelly Autism Program, will work toward a bachelor s degree i music educatio. Barrig a medical breakthrough from our icredible commuity of Fragile X researchers, which I am certaily ot coutig out, her youger sister, Christy, wo t have that same opportuity. She will face that proverbial cliff so may of our childre face after high school, whe the supports ad programs we fought so hard for with school admiistrators abruptly come to a ed. Studets with sigificat disabilities ofte leave high school uprepared ad without the supports i place to fid ad maitai employmet or pursue secodary educatio. While the Idividuals with Disabilities i Educatio Act (IDEA) requires schools to provide trasitioal services for studets through high school, there is o eforcemet, moitorig or evaluatios makig sure they are effective. Istead, studets leave the school system uprepared for adulthood, ofte lackig the guidace ad skills to search for a job with a salary to support a selfsufficiet lifestyle. Our champio i Washigto, Gregg Harper (R-MS), has faced that cliff i his ow family. To our great fortue ad like o others before, Cogressma Harper has the uique combiatio of beig i a positio to iitiate chage, ad a visio to defie that chage with isight, compassio, ad resposibility. To address the umerous systemic barriers ad better promote the advacemet of youth with sigificat disabilities trasitioig to adulthood, Cogressma Harper, together with Cathy McMorris-Rodgers (R-WA), Gerry Coolly (D-VA), ad our ew FX Caucus Co-Chair, Eliot Egel (D-NY), itroduced a comprehesive package of legislatio kow as the Trasitioig towards Excellece & Achievemet i Mobility (TEAM) Acts. Filed just i time to iclude i our Advocacy Day 2011 ageda, the TEAM legislatio cosists of a coordiated trio of bills, all focused o realigig the goals of the federal govermet to meaigfully support youth with sigificat disabilities as they trasitio from the educatioal settig toward itegrated employmet withi their commuities. I order for idividuals livig with itellectual ad developmetal disabilities to reach their maximum potetial, Cogress must eact a systems chage, said Harper. The curret federal disability laws are hopelessly outdated ad will ultimately lead to uemploymet ad poverty for these childre. The TEAM-Educatio Act (H.R. 602) ameds the Idividuals with Disabilities Educatio Act by: 1. Requirig trasitio compoets to be icluded i Idividual Educatio Plas (IEPs) for all IDEAeligible studets at the age of 14; 2. Expadig the defiitio of trasitio services to iclude customized employmet strategies ad selfdetermiatio activities; 3. Clarifyig that local educatio authorities ca use discretioary dollars to brig i trasitio expertise or cotract out trasitio services. Disability advocates are ow pushig to iclude may of the provisios outlied i the TEAM-Educatio Act i a reauthorizatio of the Elemetary ad Secodary Educatio Act (ESEA) i the 112th Cogress. The TEAM-Employmet Act (H.R. 603) ameds the Rehabilitatio Act to realig preferred outcomes for idividuals with sigificat disabilities, ad streamlies public fudig by requirig vocatioal rehabilitatio systems to actively egage with other state etities. The bill cotiued o page 25 The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

6 FXS brade o behavior Marcia Brade, PhD Navigatig the Road to Iclusio I cludig special eeds childre i geeral educatio classes is grouded i special educatio law. But however soud the theory ad purposeful the law, havig special eeds studets successfully icluded with typical peers ofte eludes reality. The mometum to iclude studets with FXS i the geeral educatio maistream grew out of the Idividuals with Disabilities Educatio Act (IDEA). The assertio that childre with disabilities had a civil right to atted school i their home school settig grew out of Civil Rights litigatio. The emphasis to iclude studets with FXS i geeral educatio classrooms has bee oted throughout the literature. Perhaps the impetus for this movemet comes from the fact that childre with FXS have a cosiderable iterest i people oe of the hallmarks of this populatio is a strog desire to iteract socially. This ofte makes iclusio more viable ad icreases the success rate. It is importat to remember, however, that levels of affectedess vary from oe idividual to aother, ad placemet optios must iclude eough flexibility to meet idividual eeds. There are occasios whe iclusio ca wid up beig restrictive to childre with severe eeds. Symos, Clark ad Roberts, 2001 studied the classroom egagemet of elemetary school childre with FXS ad determied that the egagemet was strogly related to the evirometal ad istructioal quality propagated by the teachers ad classroom. How the teachers structured ad arraged the classroom eviromet was much more importat to studet egagemet tha were specific aspects of the child s Fragile X status, medicatio use or dual diagosis. This research clearly defies a umber of evirometal ad istructioal factors that are importat whe choosig a geeral educatio classroom. Successful iclusio caot be accomplished without a systematic, sequetial process. Just placig the studet with FXS i a geeral educatio classroom with a para-professioal close by does ot ecessarily costitute success. Likewise, the mere placemet or proximity to typical peers is isufficiet i achievig a appropriate educatio for studets with FXS. I order to desig effective outcomes, the parets ad school team eed to defie the purpose of the iclusio. I other words, there eeds to be a reaso for the studet to be icluded. Otherwise, the time spet i the geeral educatio classroom may reduce the time eeded for other services that are ofte equally or more importat to the child s idividual educatioal eeds. The chart that follows defies a umber of the ecessary supports give specific targeted outcomes associated with the iclusio of a idividual with FXS. OUTCOME NECESSARY SUPPORTS Social Viable peer group Social facilitator Flexible settig Opportuities for atural cotexts Behavioral Appropriate role models Structured ad predictable schedule Cooperative learig opportuities Orgaized classroom Academic Specialized istructio High iterest cotet Erichmet opportuities Emphasis o visual presetatio Opportuities for primig or pre-teachig Collaboratio betwee SpecEd ad geeral educatio staff Vocatioal/ Viable work models Prevocatioal Positive work eviromets Flexible breaks Cosistet staff 4 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

7 After the desired outcome is established, the team eeds to desig certai strategies to assist the studet to be successful i the geeral educatio classroom. If the studet outcome aims for participatio i the geeral educatio curriculum, it is ofte importat to prime or pre-teach certai cocepts or lessos beforehad. Collaboratio betwee the special educatio ad geeral educatio staff is critical to accomplish this level of coordiatio. Whe effectively doe, this primig will help lik idividual istructio ito larger group activities. This ca also be effective whe the desired outcome is to icrease social iteractios with typical peers. The level of promptig ad facilitatio should be determied based o the eed of the idividual. It is always best to use the least itrusive level of facilitatio as possible. The studet s behavior ad level of participatio will dictate the eed for more or less teacher or para-professioal support. Because childre with FXS respod better to visual iput, effective promptig ca ofte iclude visual schedules or icos. This eables the studet to participate with less depedecy o the attedig adult. I additio, it is best to have the classroom teacher resposible for redirectio ad facilitatio because that is most like what is doe for typical peers. Classroom rules ad behavioral expectatios should be the same for studets with FXS uless there is a Behavior Itervetio Pla (BIP) i place, which usually defies certai behavioral characteristics to be a maifestatio of the disability. I those cases, special cosideratios are required. Trasitios ca be difficult for studets with FXS, ad they are very commo i the geeral educatio settig. Providig a predictable schedule with visual supports is importat. If the studet is aware of the chage ahead of time, the elemet of surprise is elimiated. I additio to providig a visual schedule ad other structured strategies, teachers ca use usig a less direct approach such as side dialoguig amog the adults i the classroom to alert the studet to pedig chages. ( So Ms. Johso, it looks like we ll be ready to dismiss the studets for luch i five miutes. ) It is ofte prudet to afford the studet with FXS a opportuity to carry equipmet from the gym back to the classroom or assig him or her some particular job to complete as part of the trasitio time. This may help lesse the axiety associated with the chage. Recetly, after observig several special eeds studets i their icluded eviromets, I was struck by the poorly plaed executio of their iclusio. Each had a paraprofessioal i close proximity, tedig to the studet as if the para-professioals were teachig a class withi a class. The tutorial relatioship betwee the studet ad para-professioal precluded those with FXS from beig able to participate i the atural iteractio withi the geeral educatio class. I oe settig, the studets were grouped i sets of four ad the studets with FXS sat at their ow table with two paraprofessioals ad o geeral educatio peers. The obvious questio was: How does this qualify as iclusio? Iclusio is ot makig studets with FXS look typical ; it is istead helpig studets with FXS brig their ow uique qualities ito the geeral educatio classroom, with full access ad acceptace, to the beefit of all. Hopefully, with good plaig ad emphasis o desired outcomes, the itet of IDEA will cotiue to bloom ito positive ad fulfillig experieces for studets with FXS ad for those with whom they share a learig eviromet. The author is a psychologist ad special educatio cosultat i Colorado Sprigs who specializes i Fragile X. She is the author of Fragile: Hadle With Care, ad creator of the Logo Readig System. Cotact: The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

8 FXS support Jaye Dixo Weber Guardiaship for Your Child A t the age of 18, childre become legal adults, which meas the parets are o loger their legal guardias, eve if the childre have disabilities. I order to cotiue helpig their childre take care of themselves, make decisios i the childre s ow best iterests, ad hadle their assets, parets have to iitiate a process of assumig legal guardiaship of their adult childre. My husbad ad I recetly wet through this experiece with our so Ia. Arragig guardiaship for Ia was ot as bad or as difficult as I thought it would be. Here is the approach my husbad ad I used, tured ito a series of guidelies for you to cosider. (My disclaimer: We are ot attoreys ad do ot preted to be. This is what worked i our state ad i our city Boulder, Colorado, earlier this year. Some or all of the guidelies below may differ i your ow jurisdictio.) 1. Gather iformatio. Call your local Arc or your local disability office to see if they offer classes o guardiaship. Also, talk to ay frieds who have goe through the process. You ca also search for your state-specific iformatio o the Iteret. Search for guardiaship (your state). Every state is differet. 2. Esure you have a complete set of the latest forms. You ca go dow to your local courthouse ad pay for the forms or you ca dowload them from the Iteret. 3. Get a hadbook or some kid of guidelies that lay out the process ad resposibilities of all the parties i your state. This will help you ad it will help you help your child. 4. Call your local courthouse to see if there is access to free attorey time. You might ot eed it, but it is ice to kow if it is available. 5. Begi fillig out the forms ad use some sticky otes for places where you have questios. The if you take it to the attorey, you ca go right to your questios. 6. Complete the forms. Note that some must be otarized ad there are timelies for distributig copies to iterested parties. (This is i case someoe objects to your guardiaship.) 7. Tur i the forms at your couty courthouse (keep a copy for yourself). You ll pay a filig fee (we paid $175) ad you may have the optio of purchasig copies of the approved guardia papers (we bought two at $25 each). 8. Prepare for a court visitor who cotacts you soo after filig. This perso comes to your home to meet you, your spouse if you have oe, ad your child. If your child lives with a care provider elsewhere, the visitor will go there, too. Whe the visitor called we asked what kids of questios she would ask. She said they would be about what Ia does durig the day, ad about us becomig his guardias. Whe I said I did t thik he would uderstad the part about guardias, she said she might ask, Do you wat your mom ad dad to keep helpig you make decisios? 9. Prepare your child for the visitor. Tell your child there is a process that parets have to complete i order to keep helpig their childre. The ask, Do you wat your mom ad dad to keep helpig you make decisios? Whe he says yes, tell him a perso is comig who will ask that questio (or somethig like it). Say: If you wat us to keep helpig you the tell her yes. 10. Whe the court visitor comes, he or she will ask you why your child eeds a guardia. Let s see: for help with thigs like gettig up i the morig, persoal hygiee, wearig appropriate clothes, gettig to/from work, moey maagemet, makig/attedig medical appoitmets, takig medicatios, gettig to activities, ad the fact that remiders are eeded for almost everythig. The visitor may also ask, Why should you be guardias ad ot someoe else? I summed it up this way: We kow him better tha ayoe else ad love him more tha ayoe else ad wat the absolute best for him. 11. You might ask the court visitor about gettig your child s case early o the docket. The visitor should have the ame ad phoe umber of the judge s clerk. Call ad tell the clerk that your child has a disability (we metioed axiety 6 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

9 ad pacig) ad that you would appreciate it if your case could be early o the docket. 12. Make sure you sed out the otices/paperwork required to all iterested parties. There is a deadlie. 13. Prepare your child for the court visit. These are some thigs you might wat to metio, maybe a day or two i advace: We all have to go to court you, Mom, ad Dad to see a judge, who will ask, Do you wat your parets to keep helpig you make decisios? You will wat to aswer yes. At the courthouse, you have to go through security like at the airport. You will the go to the courtroom. There will probably be other people there, doig the same thig you are. You have see courtrooms o televisio they pretty much look like that. Right before the sessio starts, a perso will come i ad say, All rise. Everyoe stads up. The the judge walks i right after that ad says, Please be seated. The everyoe sits dow. The judge could be a ma or a woma. The judge will have a black robe o. The judge does have regular clothes o uder the robe. The judge will call your ame because the case is i your ame. You ll walk with Mom ad Dad to the frot of the courtroom. The judge will ask the ames of the parets. The she will ask you the questio about us helpig you make decisios. The judge will say that all the paperwork looks to be i order ad the sig the approval. We will pick up the paperwork ad everyoe ca leave the courtroom. Ad it will be doe. 14. A aual report has to be filed. You will be give a date, for which you will ot receive a remider. It is similar to what is o the applicatio, the purpose is to see if there are ay chages i your child s life. You ca mail or tur it ito the courthouse. You are ow the guardias of your child. Others have recommeded to me that I carry a origial of the guardiaship papers wherever I go. Keep a copy i your car ad always take a copy whe you travel. Those are the basics. Now for part of our story: Ia arrives home the day after the court visitor comes to our house ad says, Jack (Ia s provider) says I have to go to court. We had ot told Ia about the court part yet. Yeah you do, I said, but we all have to go you ad me ad Dad. It s o big deal. We go i a room ad there will be a perso called a judge ad the judge will ask you if you wat your mom ad dad to keep helpig you ad you will say yes ad we will be doe. Ia says, What s the court look like? Like ay other room? I m ot sure where he s goig with this so I say, Uh, yeah, pretty much like ay other room. Ad he says, What does the judge wear? Just regular clothes? Uh, yeah, I thik regular clothes. Why? Because I m ot goig, he says. We are a week out at this poit. I caot believe his care provider told him about the court this far out, because I kow Ia is ot just goig to worry about it, he is goig to WORRY about it. Every day for the ext few days, I hear, I m ot goig to court. Ad he walks off. The afteroo before the court date, Ia stomps dow the steps i our house ad aouces more distictly tha I have heard before, I AM NOT GOING TO COURT! Ia, it s really ot a big deal. I M NOT GOING. The he throws his glasses across the room. Ia, I start to say. I M NOT GOING. His cell phoe flies across the room. Calmly, but quickly, I say, Ia tell me why you do t wat to go to court? His voice becomes very sad. It starts to crack as he says, Because I do t wat to go to jail. I stop, feelig that wave of Oh wow rush over me, ad the every court scee Ia has ever see o televisio rus through my mid you kow, the scees where a perso goes to court ad the goes to jail. Ad ever so slowly I say, Ia, you do ot have to go to jail. You will ever have to go to jail. This court is differet. I promise. Ia walked out of the courtroom the ext day, gave me a big smile ad said, Mom, I did it. I smiled back, Yes, you did. Good luck ad let me kow how it goes! The afteroo before the court date, Ia stomps dow the steps i our house ad aouces more distictly tha I have heard before, I AM NOT GOING TO COURT! The author is the support services coordiator for the NFXF. Sed your questios to her at: Treatmet@FragileX.org The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

10 FXS Sleep i Childre With Fragile X Sydrome: A Bio-Psycho-Social Approach S leep is a uiversal behavior amog mammals, birds, ad reptiles. Eve blue-gree algae have biological clocks. Although sleep patters, habits, postures ad habitats differ amog species, sleep is basic to life. The purpose of this article is to highlight the complex iteractios ivolved i sleep ad to ecourage a thorough approach to behaviors causig sleep problems i childre with fragile X sydrome. I the aimal kigdom, safety ad survival eeds uderscore may adaptatios to sleep. For example, birds ofte sleep with oe eye ope durig o-rapid eye movemet sleep (NREM) so they ca be aware of potetial threats ad be able to fly for great distaces. Newbor dolphis swim alog their mothers ad are able to rest half of their brais by keepig oe eye ope towards her ad the other closed. Typically, lab rats live for two to three years, but whe deprived of rapid eye movemet (REM) sleep Rebecca Krok they survive a average of five moths. If deprived of all sleep they survive oly three weeks. We are oly begiig to recogize the safety ad social costructs of sleep iheret i each of us. The power of social belogig ad our vigilace system are mechaisms that have aturally restricted sleep to a perceived safe eviromet. Sice sleep ad vigilace are opposig processes, the tesio betwee the two has practical relevace throughout developmet. This is especially so i childre with FXS, who are hyper-vigilat ad sesitive to evirometal stimuli ad chages. Loss of sleep ca affect virtually all physiological fuctioig ad behavioral regulatio, icludig memory ad attetio, complex thikig, motor resposes, ad emotioal cotrol. Give that idividuals with FXS ted to have a already compromised ervous system, optimum sleep is essetial to their fuctioig. I a atioal survey, parets of childre with FXS reported that 32 percet of their childre have curret sleep problems (Krok, et al, 2010). Delayed sleep oset ad frequet ighttime awakeigs were the most highly reported difficulties for all By Rebecca Krok, MSN, CRNP, PhD age groups ad both geders. Wakig up too early was raked Give that ext highest for males, followed idividuals with by restless sleep i both geders. FXS ted to have Childre with more problematic a already health or behavioral characteristics (i.e. iability to iteract, liste, compromised adapt) had a higher likelihood of ervous system, havig curret sleep problems. optimum sleep is These childre were also more essetial to their likely to be takig medicatios. fuctioig. Approximately 40 percet of parets felt that medical itervetios had o or little effect o sleep difficulties. Up to 62 percet reported that behavioral itervetios had o or little effect o their child s sleep problems. So: give the cetrality of sleep to virtually all life ad the cetrality of sleep problems i may childre with FXS, what is a paret to do? Although there are very few studies (either medical or behavioral) that provide evideced-based data o effective itervetios for esurig adequate ad restorative sleep for the FXS populatio (Weiskop, Richdale, Matthews, 2005; Wirojaa, et al, 2009), a practical approach to assessmet should result i a appropriate treatmet pla. Always be apprehesive of oe size fits all recommedatios for childre with FXS, who are i the throes of a challegig developmetal process ad eed to be uiquely assessed. First ad foremost, ay medical coditios (i.e. obstructive sleep apea, restless leg sydrome) that may be causig iadequate sleep eed to be idetified ad treated. Arrivig at the root cause of sleep disturbaces requires a thorough evaluatio. Parets should complete at least a oe-week sleep diary o their child to determie her quatity ad patter of sleep. Assessmet tools such as the Child s Sleep Habits Questioaire (CSHQ) or Pediatric Sleep Questioaire (PSQ) also help qualify ad quatify the type of sleep disturbaces. I a previous study, 34 percet of childre with FXS were reported to sore loudly (Krok, Noll, Dahl, 2009). A positive 8 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

11 relatioship was foud betwee sorig ad cliical levels of sleep issues as reported by parets. Obstructive sleep apea may be a chroic cotributor to sleep problems i some childre with FXS. Seizures may occur at ight ad are aother medical coditio that eeds to be cosidered. Childre with FXS are estimated to have a icreased risk, ragig from percet i boys ad about 5 percet i girls (Hagerma, et al, 2009). Ideally, a overight sleep study with a accompayig EEG should be performed to rule out may of these medical coditios. However, may childre with FXS may ot tolerate this procedure. Audio or visual tapig of your child durig sleep may help your medical provider s assessmet of sorig, sleep apea, teeth gridig, restlessess, ad octural seizures. Iattetio ad hyperactivity are commo co-occurrig coditios i childre with FXS (Bailey, Raspa, Olmsted, & Holiday, 2008). Sice stimulat medicatios that treat ADHD ca also affect sleep oset, the dose ad timig of admiistratio should be icluded as part of the medical evaluatio. Oce a medical coditio is treated or ruled out, the first lie of o-pharmacologic treatmet is to improve sleep hygiee, which refers to a set of sleep-related behaviors that sigal to the child that ighttime, with its accompayig sleep expectatio, is approachig. Sleep hygiee strategies ca work because cues i the exteral eviromet ifluece our iteral biological rhythms; it is a type of behavior coditioig that reduces stimulatio ad icreases relaxatio. The first area of cosideratio is the sleep eviromet. The bed ad bedroom should sigal certai behaviors. The eviromet should be used oly for the expected behavior of sleep, with o other stimulatig activities available such as TV, computer, or video games. Nor should the bedroom be used as a place of disciplie or stress give the opposig forces of sleep ad vigilace, sleep eeds to occur i a perceived safe eviromet. Miimal stimulatio, uexcitig decoratios, soothig colors, trasitioal objects, low lights, ad white oise are all possible ehacers to creatig a positive sleep eviromet. Lowerig the lights also has a physiological ifluece by sigalig the brai to release melatoi, the hormoe of the ight. Coversely, morig light exposure decreases melatoi productio ad has a powerful ifluece o settig the iteral clock for the day, thereby resultig i a overall improvemet of the 24-hour circadia rhythm. Maitaiig a regular sleep-wake schedule is the goal. This icludes regularly scheduled meal times ad activities. Most childre with FXS (most all childre, actually) beefit from a cosistet schedule, which cotributes to a sese of safety ad security. The key to idepedet sleep is to allow a child to fall asleep i a drowsy yet awake Calvi (top) ad Justi, zzzzzzzzz... state without reliace o paretal itervetios. Because all childre have several brief arousals ightly, it is essetial that they are able to comfort themselves idepedet of outside itervetios. A variety of behavioral techiques ca assist i this process. They iclude: Sleep fadig This is a systematic pull-back to earlier bedtimes. It begis by settig bedtime at the child s curret sleep oset time, the gradually advacig to the desired bedtime. For example, if your child aturally succumbs to sleep at 11:00 p.m. but your desired bedtime is 9:30 p.m., begi at the 11:00 slot (ad thus avoid 1.5 hours of struggle right off the bat). But the, advace bedtime by a mere 15 miutes every few days, util your desired bedtime is reached. Graduated extictio This techique progressively reduces bedtime checkig. You eter your child s room oly o a predetermied time frame to check ad reassure. For example, you iitially check every five miutes but o subsequet ights, you exted the time icremetally. The key is to give your child opportuities to self-soothe ad elimiate your reiforcemet of egative behaviors. This techique helps with both sleep oset delay ad multiple ight awakeigs. Bedtime passes A bedtime pass system quatifies the umber of times your child is able to get out of bed, thereby ecouragig adherece to sleep routie ad promotig sleep oset. For example, you may give your child two passes (like a hall pass i school) that allows him to get out of bed oly twice. Oce the passes are used, your cotiued o page 25 The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

12 focus o Voluteers Lida Sorese Four Who (Cotiue to) Step Up Voluteerig is the mother s milk, the lifeblood, the cotext out of which most every activity of The Natioal Fragile X Foudatio flows. Our voluteers are precious ad passioate about their ivolvemet, ad the foudatio would simply cease to exist without them. We thought we d hear from a few of them about why they do that thig they do. Likig ad Learig Aita Iz, LINKS Group Leader, Brookly, New York I voluteer because it takes people with a multitude of perspectives ad experieces scietists, educators, cliicias, parets ad other family members ad effective commuicatio amog them to uderstad ad treat FXS. By voluteerig, I help people throughout the Fragile X commuity lear from oe aother. I have had the icredible opportuity to brig at least oe professioal to the field of FXS. May years ago, at a talk I gave o Fragile X at a local developmetal disabilities coucil, I met Laurie Yakowitz, seior director of Family Support Services at HeartShare Huma Services, a volutary agecy i New York City. As a result of the talk, Laurie was able to recogize FXS i a cliet ad to modify her approach to him i a way that icreased his comfort ad participatio i the program. I have worked with her ever sice i my capacity as presidet of the Fragile X Associatio of New York; together, we provide iformatio ad referrals for services to dozes of families every year. Meawhile, Laurie has gotte a doctorate i special educatio, specializig i Fragile X. Voluteerig has also give me the opportuity to shape research by some of the preemiet experts o Fragile X. As the leader of oe of the two LINKS groups workig with our local cliic, I maitai close cotact with oe such expert, Dr. Vicki Sudhalter. I have had the beefit of her sage advice too may times to cout. Vicki, like Laurie, seeks my suggestios as she does her work. Beig able to have this kid of iput feels like a far-reachig beefit of my voluteer efforts. At 25, my so David lives idepedetly with appropriate supports ad has a full ad rich life. I am certai that my voluteer work has give me opportuities to help make this dream a reality for him ad for may other idividuals. I voluteer because I kow I make a differece. Mouse Race Ma Rich Erker, Fudraiser, Wildwood, Missouri Our so Rya was diagosed with fragile X sydrome o March 2, 2003, whe he was two ad half. I will ever forget that day. What the ##*** is Fragile X? we wated to shout. We had our little pity party (why us, why our little Rya?), ad I am ot afraid to admit that I cried may ights. That same day, my wife Daw called the NFXF, who referred us to cotacts who live oly 20 miutes away. Their ames were Marty ad Margaret Israel. Daw spet 45 miutes o the phoe with Marty while I searched the web for ifo (while tears ra dow both our cheeks). Soo it was o to a support meetig followed by a leadership coferece, after which Daw ad I both kew we eeded to do more. Our resource group had may goals, ad we all kow what it takes those happe: hard work, passio ad moey. So we started lookig at differet optios for a fudraiser. That s whe Rya s first speech therapist recommeded somethig called mouse races. We had ever heard of such a thig. But we decided to give it a shot. Oce you start talkig to people you lear that they kow other people who kow other people ad may of them are eager to help. It just starts with askig. Our First Aual Mouse Races for Fragile X were a huge success. We were blow away by all the people who came ad gave so geerously. Now, our group is workig o our 5th aual evet. Havig bee raised i a family that ecouraged voluteerig, it was ot ucommo for me to help others. But with the FXS diagosis, the tables were tured ad we were the oes eedig help. We are all i this Fragile X family together, ad each of us is doig our part to make our collective jourey special. Noe of us would be who we are without the rest of us. Kowig that is why I voluteer. 10 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

13 It s About Relatioships Dr. Gary Bassell, Scietific & Cliical Advisory Committee Member, Atlata, Georgia I am pleased to serve o the Scietific ad Cliical Advisory Committee (SCAC) of The Natioal Fragile X Foudatio. I this capacity, my mai resposibilities are to advise the foudatio o research proposals ad priorities, ad also speak about research progress at scietific cofereces ad fudraisig evets. I really do t view this service as voluteerism but rather as a professioal resposibility to help support a agecy with commo iterests ad objectives. However, it shares qualities with voluteerig with respect to the free choice we as scietists have i what to study ad how to ivest our time throughout our careers. The first trasformative evet i this career choice was my recruitmet to the Rose Keedy Ceter for Metal Retardatio at Albert Eistei College of Medicie i Later came my faculty appoitmet at Emory Uiversity i 2005, which is truly a uique eviromet for collaborative, iterdiscipliary research o Fragile X at all levels. I cotiue to be motivated by a evergrowig group of outstadig scietific colleagues, icludig several taleted studets ad postdoctoral fellows workig tirelessly i our laboratory. I greatly value these relatioships. Equally importat have bee the persoal iteractios with idividuals ad families whose lives have bee affected by fragile X sydrome. My first direct iteractio with idividuals with FXS was at a Natioal Fragile X Foudatio coferece i I was deeply moved by the challeges ad persoal experieces faced by parets o a daily basis. As a paret myself, the itertwied love ad emotioal stress that these parets deal with resoated with me. They are supported by the iteractios with the scietific commuity at these NFXF cofereces, which offers hope for their future, ad we i tur cotiue to be motivated by their support ad appreciatio. My ow career choice ad commitmet, icludig my role o the SCAC, cotiues to be motivated by relatioships with fellow scietists ad affected families. This has bee a rewardig experiece, ad I look forward to a promisig future. Goig Local Joe Garera, LINKS Group Leader, Erlager, Ketucky I was asked why I voluteer. Well, I ve got to blame my gees for some of this voluteerig i my family goes back geeratios. Growig up I ofte saw my parets ad gradparets beig ivolved at church, schools, local civic clubs, fire departmets ad youth sports. As oe of five kids we all uderstood the value of givig ad gettig ivolved. After the diagosis of our so Nick, we cotacted the foudatio, which helped get us started o the right track with some good material. Realizig that educatio was crucial, we sought out the ext Fragile X Iteratioal Coferece, held i Portlad i August Attedig my first coferece was the most overwhelmig ad elighteig thig I had ever experieced. I left Portlad with may thigs, icludig some great frieds ad the realizatio that I (we) are ot aloe i this jourey. I also left with a dream of how great it would be to brig a smaller coferece to our area. Whe my dad, a avid golfer, passed away, my family bega plaig to host a golf outig i his memory. We were uaimous o where the moey would go: to help Nick ad FXS. My wife Leslie ad I embarked o our first coferece i late With the help of our families ad frieds ad their support i raisig awareess ad moey through the golf outigs, the First Ciciati Area Fragile X Coferece became a reality. We have ow hosted a total of four cofereces ad partered with a local TV statio to host three Fragile X weeked cliics. Everyoe we ve touched through these may activities has touched us back may times over. So, why do I voluteer? I believe just like most parets, we will do as much as we ca to help our kids. Let me relate a questio I was asked while gettig itroduced for a presetatio at Miami Uiversity. Joe, what is your title? It s just Dad, I replied. I thak Leslie, Nick ad my family for supportig me ad allowig me the time ad eergy to be ivolved with The Natioal Fragile X Foudatio. The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

14 FXS Cover Story By Diae Simo Smith Married With (Fragile X) Childre O e of the prevailig fears for a couple whe their child has a disability is that their marriage will be affected, perhaps eve ed. I fact, oe statistic cited to such couples is that 80 percet of them will be divorced because of the child. Whe couples tell me this, I let them kow that is ot my experiece, or ca I fid ay data to support it. However, it importat to recogize that 50 percet of all couples divorce, ad that statistic ca be higher whe a sigificat stressor hits the family. Havig a child with a disability is certaily oe of those stressors ad it is chroic. Regardless of the marriage s health, a child with special eeds requires eormous reegotiatio of roles ad reorderig of priorities for parets. Disability i a child challeges our core beliefs about life ad its meaig, ad it challeges our dreams for the future. Other stressors ad crises do that, too illess, uemploymet, atural disaster, or a death i the family. But Diae Simo Smith disability i a child carries with it particular obstacles that couples must lear to avigate if the marriage is to thrive. But first, let s look at what the experts say costitutes a healthy marriage. I his book, 10 Lessos to Trasform Your Marriage, Dr. Joh Gottma, who has made the scietific study of marriage his life s work, says that happily married couples behave like good frieds. He also says they hadle their coflicts i getle, positive ways. Note that he does ot say healthy marriages have o coflict, but how that coflict is maaged determies the marriage s success. I their book, Married with Special Needs Childre, Laura Marshak ad Fra Prezat say that i a healthy marriage, parters: 1) feel coected through time, affectio, ad itimacy; 2) have good commuicatio ad coflict resolutio skills; 3) have tolerace ad respect for each other s differeces; 4) share a fair distributio of power ad resposibilities; 5) feel like a team ad are able to adapt to chagig circumstaces; 6) have a sese of their idividuality ad also the we-ess of the relatioship; ad 7) are committed to the marriage. Childre eterig the relatioship preset ew challeges. The couple must adapt to their ew roles as parets while also tryig to stay coected as lovers ad parters. Ad whe oe or more of the childre has fragile X sydrome or ay other sigificat disability, a whole additioal set of challeges presets itself. Besides dealig with our idividual struggles of paretig a special eeds child, we must simultaeously surmout the followig challeges with our parter if the marriage is to thrive: I the midst of the extraordiary demads of paretig, gettig our childre situated, ad makig a livig, how ca we realistically take the ecessary steps to make our marriages stroger? 1. We eed to coect with our spouse eve though at times it seems our child s issues are all-ecompassig. 2. We have to accept that our parter may have differet emotioal reactios to the diagosis. I our mids, our parter may ot be grievig right. O the whole, me ad wome ted to hadle their feeligs quite differetly, ad that reality may be challegig for each parter to uderstad. 3. We may have to make adjustmets to our marital ad paretal roles i a way that feels fair ad does t cause resetmet i either party. This may require occasioal evaluatio ad re-adjustmet. 4. We have to do our best to retai some gestures of romace so that we ca see oe aother as more tha Mom ad Dad. 5. We eed to develop a creative visio for the future, despite the challeges of the preset momet. Ofte the thought of the future, which was oce the subject of much dreamig together, becomes a scary subject, best avoided. With time, couples ca begi to dream agai about their shared visio for their future (eve if that future oly exteds to ext moth). 12 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

15 6. We eed to be o the same team. As o ay team, each parter has stregths ad weakesses. As a team member, you must strive to complemet each other ad develop a strategy for gettig back o track whe correctio is eeded. So, i the midst of the extraordiary demads of paretig, gettig our childre situated, ad makig a livig, how ca we realistically take the ecessary steps to make our marriages stroger so that they ca go the distace? How ca we be flexible eough to respod to ew ad chagig demads? Here are some suggestios: Pla some time aloe together. First ad foremost, couples eed to carve out time that is theirs aloe. Of course, this is easier said tha doe, give the challeges of time, moey, ad fidig babysitters. (The latter ca be especially difficult if there is o family aroud.) This is the purpose of respite care. Use it to have sacred time for yourselves. You ca eve do somethig small like takig a walk or goig to a early movie; it does t have to ivolve great time or expese. Express appreciatio sicerely ad ofte. Oe thig that couples cosistetly tell me i therapy is that they ofte do t feel appreciated by oe aother. Ackowledgemet for the big thigs is very importat, such as: I really appreciate how you work so hard to support our family. Or: You do such a woderful job with the kids. But remember: the little thigs are importat, too. Try statig somethig very specific such as: I really appreciate that you helped me get the kids breakfast this morig. Try for oe such ackowledgemet each day. (Ad try ot to follow up with, but. ) Share laughter ad fid humor i everyday thigs. Childre with FXS ca be charmig ad very fuy. There is plety to ejoy about them. So reclaim humor, iroy, ad laughter if these have bee i short supply for you. It is a powerful weapo agaist despair ad discoectio. Praise frequetly; criticize rarely. Research shows this formula is a predictor of marital logevity. Try for a 3:1 ratio to start. Respect each other s differet ways of dealig with your child s disabilities. Through coversatio, liste to your parter s experiece of your child, ad accept that it may be differet from your ow. Accept each other s stregths ad limitatios. O a team of ay kid, there are idividuals who excel at oe skill ad do ot do as well at aother. It is importat to remember that we each have limitatios that our parters must lear to accept. Develop a uited frot for paretig. A differece i paretig styles is a primary source of coflict betwee parters. Do ot udermie each other s paretig. Take your discussios ad disagreemets away from the childre. If you fear your parter is very iappropriate i his or her paretig, get help. Relatioships are a challege ad a opportuity for growth, uder ay circumstaces. Good relatioships require showig empathy ad takig resposibility. Thik about what it is like for your parter to be the paret of a child with fragile X sydrome ad what your parter might eed from you both emotioally ad practically. Share these ideas with your spouse. The imagie your relatioship as you would like it to be. Decide o the oe thig you ca do today to move you toward that visio ad the take that step to make your reality closer to that visio. The author is a licesed marriage ad family therapist i Woodlad Hills, Califoria, ad the mother of two childre with special eeds. Her so, Adrew, who passed away i 2002 at the age of 17, had severe cerebral palsy. Matthew, 23, has fragile X sydrome. She cosiders her sos to be her teachers. diaesmithmft@earthlik.et The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

16 FXS therapy i actio With Mouse & Tracy Y Doggoe It, Matras Are Great for Learig!! 24th i a series of Coffee Talk articles by Occupatioal Therapist Tracy Stackhouse ad Speech Therapist Sarah Mouse Scharfeaker. ou may recall the lie from Saturday Night Live character Stuart Smalley, played by the ow Seator from Miesota, Al Frake: I m Good Eough, I m Smart Eough, ad Doggoe It, People Like Me! Oe of the highlights from last year s participatio i Advocacy Day was seeig Seator Frake o the Seate floor. While most of our therapy techiques are sophisticated ad leared from professioals rather tha Saturday Night Live cast members, matras, like positive affirmatios, really do have power. I our case, we have foud matras to be useful for both skill developmet ad to support self-regulatio. So, what are matras? Matras are short, positive, istructive statemets full of actio words. We use them to quiet the mid ad focus thikig ad actio. Of course, there is a spiritual traditio from which matras are derived. But we will leave that explaatio to those wiser tha us! Ommm Matras ad Skill Developmet Most of us have had a coach or istructor try to assist us i learig a ew motor skill. Oe of the tried ad true techiques i skill acquisitio is focusig o a particular aspect or subset of the skill. Rather tha tryig to develop the etire skill i oe swoop, the teacher emphasizes a discrete part of the skill, the has the studet practice to achieve mastery. For example, a begiig dowhill skier will lear to shift her skis by usig the matra ad visualizatio of Frech fry (skis together to move dow the hill) ad pizza pie (push skis to wedge-shape to slow dow). The verbalizatio ad metal imagig drives the motor actio, ad repetitio builds cofidece ad focus. As mastery ad ease with the skill develop, the matra is allowed to fade out. Idividuals with fragile X sydrome are proe to self-talk ad perseveratio, so i a sigificat way, teachig them to use costructive matras haresses their atural tedecy to arrate their lives. Some examples: A commo skill we have to foster i childre ad adults with FXS is eatig ormal size bites, chewig ad swallowig, ad miimizig mouth-stuffig. Matras ca play a role i the rehearsal ad reiforcemet of the skill you are ecouragig. I may cases we have used the followig matras successfully: Take a bite, take a bite, take a bite.chew! Take a bite, take a bite, take a bite.drink! Dip a little, dip a little, put it i your mouth! (This is particularly helpful for itroducig ovel foods.) Feet together JUMP! (Used to promote correct motor pla for trampolie jumpig.) Thumb to the ceilig with my scissors! (Used to promote correct motor pla for holdig scissors ad cuttig.) If you ve ever listeed to the Ms. Marie TV Teacher videos, you ll see how she uses short, catchy phrases to reiforce motor plaig skills related to drawig ad hadwritig. Sometimes we ll use a favorite phrase or utterace or silly setece to prime a child s rhythm for workig o timig ad geeratio of verbal speech. Oe boy loved barbecues, ad we used the phrase, I wet to a bar b cue, ad I had some. Of course, everyoe s favorite matra relates to the early developig skill of cleaig up (although Mouse s 25-yearold is still workig to mastery o that): Clea up, clea up, everybody everywhere! Matras ad Self-Regulatio Matras are powerful for quietig ad focus, ad thus led themselves well to the area of self-regulatio. The commo experiece of talkig yourself through a stressful situatio reveals the huma tedecy to derive comfort from repetitive, focused self-talk. I ca do this, I ca do this, I ca do this, you say, as you step from the plae ad ope your eyes to cast a last glace over your shoulder to make sure your istructor remembered to secure your parachute. 14 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

17 As therapists, we realize the power of focusig o the precise quality that ca promote the shift that is desired. Ofte the phrase that comes to a perso aturally may be too egative to be effective. For example, we have a boy we work with who repeats over ad over, Shut up, I hate you I m sorry! Sometimes lettig him vet with this phrase ca be helpful, but more ofte he becomes stuck i this egative space ad attitude. Workig with him to shift this to somethig more positive ad empowerig such as I eed some space that s better allowed him to express the source of his egative affect. With aother youg ma, beig precise about what eeded to be regulated was effective. His matra was, I am the boss of my hads, I am the boss of my feet. These were ecouraged whe he would impulsively ru or grab or throw. Some other examples of self-regulatory matras are whe we use a phrase to target stoppig, a self-regulatio capacity that is ofte difficult for idividuals with FXS. Stop take a breath ad Stop.thik..ow do or Thik it, say it, do it are all examples of how we would work o ihibitio ad impulse cotrol. These are ofte paired with a gesture, sice the verbal ad overbal combiatio ca be very effective. For example, with Thik it, say it, do it, we pair a poit gesture to the head, the mouth, the the body, ad fid that sometimes we ca fade the verbal to just the gesture, which teachers ca ofte icorporate i classrooms. The Five Figer approach that we have discussed previously is a gesture/matra self-regulatio cueig system. The idividual first grabs the thumb ad says, Stop, followed by holdig the idex figer ad sayig, Take a breath. The fial three figers are paired The commo experiece of talkig yourself through a stressful situatio reveals the huma tedecy to derive comfort from repetitive, focused self-talk. with: What s wrog, what ca I do, ad ow do it! Besides pairig matras with a gesture, we ofte couple them with a visual to better facilitate learig. For example, a two-sided card with a gree or red circle o either side, paired with Ready...ot ready is a basic self-regulatio support that is visual ad matra-ized. We might have a Take a break card, a stop sig, a breath sig, or a idividual-beig-the-boss-oftheir-hads photograph to pair visuals with matras. Fially, as therapists, we are sesitive to varyig degrees of cogitive uderstadig ad verbal expressio, ad fid we ca easily adjust the cues ad method of accessig the matra as eeded. Matras ca play a role i ayoe s learig. So choose your favorite ad adopt it! Ad our thaks to Stuart Smalley for empowerig us. As we started our writig process for this article we adapted oe of his favorites that started us off here: We re goa help people! Because we re good eough, we re smart eough, ad, doggoe it, people like us! Tracy Stackhouse, MA, OTR ad Sarah Mouse Scharfeaker, MA, CCC-SLP, are co-fouders ad directors of the Developmetal & Fragile X Resource Cetre i Dever, C0. tracy@developmetalfx.org, ad mouse@developmetalfx.org Write for the Fragile X Quarterly! Fidig yourself tellig tales over your coffee cup about your kids ad other family members livig with Fragile X? Are you reflectig i a private joural or o a social media site like My.FragileX.org about your experieces as a paret of a child with FXS, or as a so or daughter of a paret with FXTAS or FXPOI? Please cosider sharig those thoughts for the beefit of readers i the wider Fragile X commuity. Fragile X Quarterly editors always welcome ad work with writers, from professioals to absolute begiers, who wish to explore the may dimesios of life i the Fragile X world. Writig opportuities iclude: Parets Forum I Their Ow Words Letter to the Editor Somethig more wide-ragig still! No ideas or tales are too small or large. Sed submissios or discuss your ideas with: Editor@FragileX.org. Thak you! The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

18 mglur5: A Primer By Adrew Hidas This is the secod i a series of Q&A s focused o better uderstadig the basic sciece ad importace of terms frequetly appearig i Fragile X research. Iterview subject Ted Brow is oe of those accomplished souls who seem to be ot all that rare i the Fragile X research commuity: a doctor doctor, or holder of both MD ad PhD degrees. As medical director of the Fragile X Cliic at the Istitute for Basic Research o Developmetal Disabilities (IBR) o State Islad, New York, ad Pricipal Ivestigator o the CDC grat supportig the Fragile X Cliical & Research Cosortium, Brow is at the forefrot of multiple collaborative efforts to research the causes, treatmets, ad possible cures for Fragile X, i additio to ogoig research o the related coditio of autism. A ative of Motaa (where he was state chess champio as a youth, a fact he does ot readily share), he ow lives o State Islad with wife Doa, a speech therapist for childre with autism. They met at a Fragile X coferece i Australia i 1985 while she was workig i Dever with NFXF fouder Dr. Radi Hagerma. The couple has two youg adult childre. Ayoe keepig up with Fragile X research literature i recet years comes across the term mglur5 with icreasig regularity. Ca you give us a sese of what it meas ad why it s importat? Researchers studyig the chemistry of the brai have made some discoveries we re comig to believe are largely resposible for most of the behavioral problems see i boys ad girls with fragile X sydrome. The geerally accepted idea based o this The basic problem research, which bega with the i Fragile X is the work of Dr. Mark Bear s group at MIT ad was published i 2002, lack of FMRP. is that FXS ivolves a problem So if we re to cure with glutamic acid. Glutamic acid the sydrome, is oe of 22 amio acids i the it would mea huma body. Amio acids are the replacig that protei. basic buildig blocks that form protei i every cell. Glutamic acid is a excitatory chemical, meaig it excites the cell it s released o. Whe a electrical sigal goes dow the erve, it stimulates a secod erve to be either excited or ihibited. It causes or prevets the other erve from expressig a sigal. The research o mice suggests that there is a overreactio to glutamic acid i those with FXS, which causes too much stimulatio i the brai. So oe of the ideas beig studied is to partially block the glutamic acid ad thus ihibit the highly excitable behavior we see i FXS. This approach has bee quite successful i mice. This targeted approach to therapy has caused a lot of excitemet i the medical commuity. How does the glutamic acid get blocked? There are several ways, but chief amog them are various drugs, some of them ow i phase II cliical trials. Oe published study from Novartis ivolved a small sample of 30 subjects i Europe. Partially blockig the glutamic acid seemed to improve the behavior of childre with FXS. All the subjects who had the full mutatio improved cliically. Those with just a partially methylated mutatio did t seem to be helped as much. This was curious we re ot sure why it would be. Obviously, more research is eeded o this. Why is there too much glutamate? The discovery ad sequecig of the Fragile X gee (scietific term: Fragile X Metal Retardatio 1, or FMR1 ) i 1991 by Drs. Warre, Nelso, Oostra, Madel, ad Sutherlad s labs showed that it plays a cetral role i typical brai developmet. That gee is broke or fragile i those with FXS, so it does t produce eough of a key protei kow as the Fragile X Metal Retardatio Protei (FMRP). This lack creates a chemical reactio that allows glutamic acid to ru wild. It s a complicated piece of chemistry. Are we lookig at the may drugs curretly beig studied as a possible cure for FXS, or are they more for symptom amelioratio? The basic problem i FXS is the lack of FMRP. So if we re to cure the sydrome, it would mea replacig that protei. We re ot there yet. The drugs we re studyig address the problem of excess glutamate. So it s addressig part of the problem, but it s ot a cure. What would lead toward a cure? The ideal would be to use geetic egieerig to replace the Fragile X gee chemically i those people where it is broke ad effectively tured off or methylated. That would allow it to re-express itself or become umethylated, which is its typical state. If we could do that, we might have a chace for a cure. 16 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

19 Are there studies uderway alog those lies? Yes, there are plas to icrease studies, but we re i the very early stages. We eed a lot more experiece tha we have ow. Give the importace developmetal psychologists place o huma beigs hittig key developmetal milestoes at certai ages, would a evetual cure focused o re-expressio of the gee help older childre ad adults with fragile X sydrome? It s hard to say, but studies doe with mice did t show age to be a major factor. It s possible it could be like curig deafess at 12 years old oe ca still lear a lot, eve havig missed out o so much i earlier life. Let s get back to defiig mglur5. We ve covered the glu for glutamate, but what do M ad R5 sigify? M stads for metabotropic, which meas it ivolves a iteral metabolic pathway. R5 sigifies the 5th oe, which turs out to be the mai oe out of 8. So take as a whole, mglur5 refers to a protei that is the 5th receptor of the metabolic type for glutamic acid. Do all mammals have mglur5? Yes. Not oly mammals, either. We see it i fruit flies ad worms, too. The basic chemical system that builds ad sustais life evolved very early, so we still see it i primitive life forms. We ca watch plats i seabeds just sittig there doig othig, but their ervous system trasmitters ad receptors are fuctioal very much like ours, so they are capable of sesig ad the pullig a passig orgaism i to feed themselves. This is based o simple ervous activity, but it requires a lot of thigs to fuctio correctly. We ca assume huma ervous systems are a bit more complicated? The cetral ervous system has billios of erve cells, coectig the activities from all parts of our body. It cosists of the brai ad spial cord. Whe we wat to wiggle a toe, a electrical impulse goes from our brai alog the spial cord dow through our leg ad the to the toe. It s highly orgaized ad complex, but most ervous activity takes place beeath our awareess. Obviously, o oe is aware of the glutamic acid activity that causes erve cells to express over-ethusiastically. This is just how we are made, ad most of the time, everythig fuctios i a way that ca sustai life. Ad sometimes, thigs go wrog. Dr. Ted Brow is part of a growig cotiget of scietists i various academic ad research settigs aroud the world who cotiue to build upo each other s work i determiig the causes, treatmets, ad quest for a evetual cure for Fragile X-associated Disorders. It seems rather miraculous they go right as ofte as they do. Yes, huma life is pretty much miraculous, i the fact that we have evolved to this poit. We have approximately 25,000 gees, of which some 60 to 70 percet are expressed i the brai. Gees have to be expressed i just the right order i thousads of ways, ad if they re ot, it causes disruptio i ormal eural activity. The Fragile X protei appears to be very importat for ervous system fuctio, because it modulates the expressio of other gees. If 25,000 gees are beig expressed, we kow that about 5 percet, or 1,250 gees, are uder the cotrol of the Fragile X gee. That amouts to a sigificat impact o eural activity. Souds like there s lots of buzz amog scietists i the Fragile X field. Yes, plety of excitemet. There is a lot of basic research uderway, too, about what happes whe the Fragile X protei is ot expressed, what s goig o mechaistically i the cell, because there might be other targets we ca reach besides just glutamic acid. We re at a poit where targeted drugs might make a real differece i people with fragile X sydrome, helpig them to live richer lives. The author has edited the Fragile X Quarterly sice Editor@FragileX.org The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

20 Employmet First! NFXF Jois Growig Chorus o Job Rights for People With Disabilities By Serea Lowe Public policy aimed at promotig optimal idepedece ad empowermet of idividuals with fragile X sydrome ad other itellectual ad developmetal disabilities (I/DD) is of growig cocer atioally. The topic egedered much dialogue at The Natioal Fragile X Foudatio s Iteratioal Coferece last summer, ad it is cotiuig i the wake of Rep. Gregg Harper s (R-MS) itroductio of a federal legislative package i February kow as TEAM ( Trasitio toward Excellece, Achievemet ad Mobility ). As a ardet supporter of this legislatio by Fragile X champio Harper, the NFXF has worked closely with the Collaboratio to Promote Serea Lowe Self-Determiatio (CPSD), a advocacy etwork deeply ivolved i the disability rights field that the NFXF itself helped to orgaize. This article will clarify the goals of the CPSD ad address questios aroud several public policy reforms curretly beig cosidered by the federal govermet. CPSD BACKGROUND The CPSD was lauched i 2007 by the Autism Society of America, the Natioal Dow Sydrome Society, ad The Natioal Fragile X Foudatio. These orgaizatios came together i respose to a growig demad from families across the coutry who were cocered that their childre with I/DD lacked opportuities to work, ear a livable wage, ad egage i the commuity after eterig adulthood. Today, the CPSD has 15 atioal orgaizatio members ad over 100 subject-matter experts servig o its seior advisory board. The CPSD is committed to iovative public policy reform that will elevate America s cosciousess of people livig with I/DD ad help esure their rights to pursue lives of optimal idepedece i itegrated commuities. The visio of the CPSD is that every youth ad adult livig with I/DD has the opportuity, ecouragemet, ad support required to lead a idepedet, productive life. VALUE FRAMEWORK CPSD presumes competece i all people with sigificat disabilities to work ad live idepedetly i itegrated settigs ad to meaigfully egage ad cotribute to their commuities. Furthermore, the CPSD has argued that publicly-fiaced resources that support these idividuals should be sharply focused o helpig them become self-sufficiet, productive members of society, workig ad livig alogside their typical peers ad compesated at competitive wages ad beefits. To accomplish this, there must be a clear focus i public policy ad resources that affirms these high expectatios. Oly the ca idividuals advace ecoomically by geeratig icome ad buildig a asset base. Systems-chage must also esure cotiued access to log-term supports for those who have successfully achieved partial self-sufficiecy but still require some assistace to offset the tremedous costs related to their disability. (See sidebar for the CPSD s full value framework.) GOALS The CPSD s goals iclude: Creatig a atioal dialogue o the eed for policy iovatio ad reform toward empowerig youth ad adults livig with complex I/DD who require sigificat support; Elimiatig barriers ad icreasig opportuities for the I/DD commuity through comprehesive federal legislatio ad regulatory reforms; Idetifyig opportuities at the state level for effective implemetatio of these public policy reforms; Providig opportuities for idividuals to meaigfully partake of educatio, employmet, social iteractio, ad commuity ivolvemet; Elimiatig obstacles ad creatig icetives to empower idividuals to live ad work i itegrated settigs, geerate icome, ad save for their future; Customizig public supports based o the uique eeds of idividuals throughout their lifespa. I order to accomplish these goals, the CPSD focuses o the followig strategies: 18 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

21 1. Advocatig for idividuals with I/DD to work ad save moey without jeopardizig eeded publicly-fuded supports. This ca be accomplished through the elimiatio of asset ad icome limits that determie eligibility for state ad federal etitlemet programs such as Social Security ad Medicaid. 2. Advocatig for a Employmet First ageda that supports competitive, itegrated employmet as the preferred outcome for all people with sigificat disabilities, ad requires state ad federal systems to fully alig practices toward this outcome. 3. Campaigig for broad systemic reform that results i improved coordiatio of services for the I/DD populatio, alog with the bledig of govermet-provided resources that will promote coheret, idividualized, perso-cetered plaig ad self-directio of resources. NFXF ROLE The Natioal Fragile X Foudatio is committed to esurig that the policy ageda of the CPSD is well-iformed by the experieces, kowledge ad expertise of idividuals ad families who are livig with fragile X sydrome. As such, the foudatio wats to hear from the Fragile X commuity. We ecourage you to share your thoughts via to washigtoteam@fragilex.org. The pathway to reform is a log ad widig road that will require cosistet, thoughtful egagemet of ad feedback from the Fragile X commuity. The NFXF is committed to advocatig for progressive reforms, while also esurig that the rights ad choices of idividuals ad their families affected by Fragile X are protected. ADDRESSING CONCERNS Various questios have bee raised about the ramificatios of the far-reachig public policy reforms that the CPSD ad NFXF are seekig. Let us address three of the cetral questios here. 1. Will implemetig a Employmet First policy result i the immediate elimiatio of submiimum wage practices ad sheltered employmet for idividuals with I/DD? No. Submiimum wage is a wage paid below the miimum wage set by the Fair Labor Stadards Act (FLSA). It is based o a worker s compromised productivity due to a physical or metal disability. Employers who pay submiimum wages must first obtai a certificate from the U.S. Departmet of Labor. They must assess the skills ad productivity of their employees with disabilities compared to employees without disabilities. CPSD presumes competece i all people with sigificat disabilities to work ad live idepedetly i itegrated settigs ad to meaigfully egage ad cotribute to their commuities. The wages of the employees with disabilities are the adjusted based o their level of productivity as compared to typical employees. There are differeces of opiio eve i the disability commuity regardig submiimum wage employmet. Some feel that such laws are o loger ecessary ad are ot cosistet with prevailig values. Others are cocered that the loss of a employer s ability to adjust wages to performace will icrease the likelihood that those with the most sigificat disabilities will ot have ay employmet opportuities ad will be forced ito o-work day programs, or eve out of programs etirely. May o both sides of the discussio ackowledge the historically icosistet ad ieffective oversight of the system, which has led to abuse ad exploitatio of the submiimum wage system. The CPSD s positio is simple: we support a presumptio of employability at competitive wages for all workers with disabilities. This presumptio should serve as the baselie expectatio i our society, rather tha begiig from a presumptio that workers with I/DD will, by virtue of their disability, require a submiimum wage structure. The reality is that may idividuals with sigificat disabilities are experiecig success i the geeral labor market, earig competitive wages ad beefits alog with praise from their employers ad colleagues. As such, CPSD believes publicly-fiaced services should be redirected so as to exhaust all efforts to get a perso gaifully employed i the workforce before sheltered employmet ad submiimum wages are eve discussed. What is eeded is a balaced approach to gradually phase out ad the evetually elimiate FLSA submiimum wage provisios for all idividuals (regardless of ability), but oly while simultaeously buildig the capacity to support idividuals with sigificat disabilities i itegrated employmet paid at or above the prevailig miimum wage. This, ad a larger set of reform strategies that will be discussed i future articles, is the crux of Employmet First. The goal is a systematic reductio i the use of submiimum wage practices, but ot their immediate elimiatio, so as ot to harm workers curretly relyig o such wages uder the curret approach. cotiued o followig page The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

22 CORE VALUES EQUALITY Lack of persoal cotrol or autoomy, deprivatio of huma digity, segregatio ad abuse (icludig seclusio ad restrait) should ot be experieced by ay populatio or tolerated by our society for ay reaso. GUIDING PRINCIPLES Persoal autoomy, access, accoutability, ad resposibility over oe s life decisio-makig processes, icludig cotrol over publicly-fuded ad persoal resources required to support a idividual i their persoal eeds ad pursuits, result i better outcomes for the idividual ad society. CHOICE A fudametal commitmet is to discover ad hoor idividual choice. Livig ad employmet optios that foster a separate but equal sceario or that promote exclusio i maistream society do ot foster true idividual choice or empowermet. The curret system has built-i istitutioal biases that support segregated outcomes, thus limitig the ability of idividuals to fully actualize or pursue their ow goals or motivatios, ad restricts their quality of opportuity. COMPETENCE Competece should be presumed i all idividuals, ad public policy should presume the highest expectatios o both the system ad idividuals. Public systems with high performace outcomes that meet idividualized support eeds result i a decreased reliace o public supports ad fiacig over the log term. These supports iclude assistig idividuals to maitai meaigful employmet i a itegrated settig, ear a sufficiet icome, geerate assets, live idepedetly, forge strog commual relatioships i iclusive settigs, ad attai optimal self-sufficiecy. COMMUNITY The provisio of supports should be measured as to how proximate a perso s life i the commuity is to peers without disabilities. Idividuals with disabilities are chroically uderrepreseted i all aspects of society, ad as a result their quality of life (i terms of employmet, wealth, ad health idicators) is sigificatly lower tha ay other subpopulatio i the U.S. (stratified across race, age, ad geder). HOME Everyoe deserves a home, ot a home-like settig. People with umerous social relatioships have healthier outcomes ad are less likely to be abused. WORK Workig-age idividuals with disabilities should be supported to pursue a workig lifestyle. Work should ot be optioal for idividuals who are capable of workig ad rely o public assistace for sustaiability. It should be presumed that idividuals with disabilities wat to work. A well-compesated ad well-traied workforce is critical to providig supports. DIGNITY OF RISK Future systems of supports ad service delivery should break away from the pateralistic cycle of the past ad istead promote ad respect the digity of risk. The ature of cogitive impairmets associated with a I/DD makes those livig with such disabilities particularly vulerable to the prejudices of exteral stakeholders, which impedes their ability to make iformed choices based o persoal desires rather tha exteral iflueces ad pressures. Families (of biology or of choice) of adults livig with I/DD are a importat compoet i cosiderig supports. EQUITY All people with disabilities should receive public resources based upo idividual support eeds. Assistace should help them achieve iclusive educatio, itegrated employmet, ad idepedet livig withi typical commuity settigs. Systems should be prohibited from keepig certai subpopulatios from resources that would allow them to strive for, attai ad achieve persoal objectives related to icreasig their self-sufficiecy, idepedece, ad ecoomic progress i itegrated settigs. 20 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

23 Employmet First!...cotiued from previous page 2. Will idividuals with complex I/DD coditios such as FXS have the kowledge ad capacity to compete ad be productive at stadards expected i the geeral workforce? With the eeded supports, yes. We are ow more tha a quarter cetury ito a disability rights movemet that has defiitively show that with appropriate supports, idividuals with disabilities ca achieve far more tha the low expectatios placed o them by our society ad publicly-fiaced systems would suggest. A key objective of Employmet First policies is to address the curret imbalace of federal fuds that are beig ivested i services that cotiue to presume low expectatios amog idividuals with disabilities ad further perpetuates their segregatio from the ecoomic maistream. A rebalacig meas that existig expeditures must be used to support a system that presumes high expectatios ad competitive employability. Without sweepig systemic chage ad a rebalacig of the way federal ad state support dollars are spet, othig will ever chage. Cosider: State Medicaid programs sped four times more federal moey o segregated adult day programs (day habilitatio ad sheltered work) tha o supported employmet ($488 millio vs. $108 millio i ). Recet data suggests oly a estimated 20 percet of idividuals receivig day supports from state disability agecies participate i itegrated employmet. ii The vast majority of persos served through the commuity rehabilitatio provider system are i sheltered employmet, o-work programs, or traiig programs with the goal of evetual competitive or supported employmet. Over the years, services provided i group settigs ad ceterbased programs have led to far fewer istaces of itegrated employmet. Wages i these segregated settigs are also far below rates for typical employees (ad are ofte without beefits). The chages proposed i a Employmet First system will ot be easy ad will ot take place overight, but uless the curret system is forced to chage, idividuals with FX ad other I/DD will ever begi to realize their full potetial ad place i society. 3. Does the CPSD ad its Employmet First ageda fully take ito accout what is happeig i states ad local commuities, ad the eeds of employers of idividuals with the most sigificat disabilities? Yes. The CPSD is guided by a seior advisory board of more tha 100 atioal opiio leaders whose professioal ad persoal lives are dedicated to providig techical assistace, employmet supports ad research/policy guidace to facilitate the effective trasitio ad itegrated employmet of idividuals with sigificat disabilities. Additioally, the CPSD s parter orgaizatios iclude atioal trade associatios represetig every aspect of state I/DD etworks, icludig the state directors of developmetal disabilities services, uiversity ceters of excellece o developmetal disabilities, protectio ad advocacy uits, ad state coucils o developmetal disabilities. Moreover, the CPSD is comprised of member orgaizatios that represet the families of idividuals with I/DD, alog with self-advocates who are fully capable ad should be actively egaged ad advocatig o their ow behalf. Fially, the CPSD is guided by established atioal treds, a growig body of data, ad may testimoials that help sharpe its focus o brigig promisig practices to a atioal scale. The collaboratio does ot propose a idepedet ageda, but rather, a set of the best ad most progressive ideas to promote selfdetermiatio ad fully itegrated, productive lives for all those livig with FXS ad other complex I/DD. The author is presidet of AereS Strategies, a Washigto D.C. cosultig firm, serves as executive director of the CPSD, ad served as a public policy advisor to the NFXF ad its govermet affairs team for more tha 10 years. ewolaeres@gmail.com i. Butterworth, J., Smith, F., Hall, A.C., Migliore, A., Wisor, J. State Data: The Natioal Report o Employmet Services ad Outcomes. Istitute for Commuity Iclusio, Uiversity of Massachusetts Bosto (2008). Available at: ii. Butterworth, J., et al. The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

24 focus o fu draisig Megha McMurray Sprig Fragile X Fudraisig Fu A lthough the early moths of the year brought chilly witer weather, NFXF supporters ra, biked, ad bowled their way to raisig moey ad awareess for Fragile X! Meawhile, back at foudatio headquarters we ejoyed overwhelmig success with our first-ever direct mail campaig i support of Advocacy Day. As Fragile X frieds ad family marched to Washigto D.C. for the eighth year i a row, may doors showed their support from home by cotributig to a collective $27,000! Without this vital ivestmet from our doors ad advocates, we could ot cotiue our year-roud advocacy efforts that have led to the steadily icreasig federal fudig for Fragile X. Thak you! Frieds for Tommy Iaugural Bowl Batavia, IL Like most parets i such circumstaces, Alicia ad Matt Brooks did t kow where to tur whe they received a FXS diagosis for their so Tommy. Two years later, after havig met may families i their local commuity ad beyod through the NFXF, they held their iaugural Fragile X Bowlig Party. With cautious expectatios, they set a goal of fillig 16 laes, hopig to have bowlers. Oe week after ivitatios were set, they had to call the bowlig alley to see if they could accommodate over 180 people! They were overwhelmed by the support from family, eighbors, school frieds, sports teams ad woderful members of the commuity that wated to support Fragile X. Raisig Gree i the Desert Scottsdale, AZ For the third year i a row, frieds gathered at the Troo Coutry Club to raise moey for the NFXF, courtesy of evet orgaizers ad hosts Joa ad Jay Cael ad Irv ad Judy Gross. Guests were welcomed with a heartfelt message from Judy, after which Executive Director Robby Miller updated the crowd o the Fragile X Cliical ad Research Cosortium. Robby the itroduced Dr. Robi Blitz, a developmetal-behavioral pediatricia at Phoeix Childre s Hospital. Dr. Blitz aouced plas to ope a Fragile X cliic i Arizoa ad discussed the progress towards achievig that goal i The afteroo icluded the opportuity for guests to bid o a wide array of auctio items ragig from gift certificates to local artwork graciously doated by local busiesses ad artists. It cocluded with lively card games. May thaks go out to the Joa-Jay-Judy-Irv team for their hard work o aother successful evet! Valbella Wie Tastig New York, New York O March 7 Paul Cappiali, a fried of NFXF board member David Justus, orgaized a wie tastig fudraiser i New York City. The ower of Valbella restaurat provided space, food, ad service ad helped attract patros. The evet provided a fatastic opportuity to raise awareess of Fragile X, ad a portio of the proceeds were doated to the NFXF. Parets Matt ad Alicia Brooks, Gradparets Joh ad Joae Salemi with Tommy, Ucle D, sister Isabella, cousis Sophie, J.D. ad Taylor, ad Autie Stacey. The group took over the etire bowlig alley ad the laes were filled with bowlers of all ages. Whe kids were ot bowlig they were etertaied by a professioal face paiter who paited favorite aimals, isects ad eve gree smiley faces to match the cookies haded out for Fragile X awareess. The day cocluded with Tommy selectig the raffle tickets, ad wiers walked away with a ipod touch, a ight s stay at a 4-star hotel ad spa, iterior home paitig services, a bowlig party ad eve gourmet pastries ad cadies. All the bowlers had a great time ad wated to kow whe the ext evet will be held. May thaks go out to all our frieds for Tommy! 22 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly

25 Sioe ad Filipe Fa with two Aytime Fitess Bootcamp participats. Challege X Prescott Valley, AZ O Jauary 29, Aytime Fitess Prescott Valley hosted its secod Challege X Bootcamp to raise moey for the NFXF. Uder the guidace of Seaso 7 Biggest Loser cotestats, participats revved up their workout regimes by pushig through a sixhour boot camp. The evet has grow i popularity sice the first Challege X was held i July Aytime Fitess ower Leae Shearer plas to tur it ito a semi-aual evet with proceeds cotiuig to beefit Fragile X! Jackso Laughs Race to Beefit the NFXF Ket, OH Whe Fragile X parets Be ad Natalie Kobera committed to holdig a fudraiser i hoor of their so Jackso, they decided to orgaize a race to attract local ruers. Moths of plaig led up to the April 9 evet, which was held at Ket State Uiversity s Dix Race orgaizer Be Kobera ad Stadium. Some 120 ruers his so Jackso. showed up o the cold ad cloudy race day to participate i the 5K, 25K, or 1-mile fu ru. NFXF Board Member ad Fragile X researcher Dr. Elizabeth Berry-Kravis was there to ru the 25K ad fiished third i her age group! All 25K participats received Tek Ts, ad 5K ruers received commemorative pit glasses. Immediately followig the race, a awards ad after-party was hosted at the Rusty Nail bar. Dr. Kravis ad Robby Miller cocluded the day s evets with speeches to educate the crowd about Fragile X ad the NFXF. The Koberas hope to hold the evet agai ext year ad would like to thak participats, frieds, ad family who made the race possible. The author is the developmet coordiator for the NFXF. For more about orgaizig or supportig fudraisig activities, cotact her at Megha@FragileX.org. Trustees Circle The NFXF would like to recogize each member of the Trustees Circle. By committig to fiacial support of the foudatio at a $1,200 or higher aual level, trustees esure the log-term health ad vitality of the orgaizatio. The sustaied ivestmets from our trustees are crucial to cotiuig the importat work the NFXF provides for all families touched by Fragile X. Eilee & Marty Aroovitch Pam & Do Bailey, PhD Dea & Elizabeth Berry-Kravis Al & Melissa Blout Marcia Brade & Ke Wood Jay & Joa Cael Scott & Lyda Cael Jerad & Julie Chao Joey Christoff & Catherie Frey-Christoff Jeffrey & Arlee Cohe Carey & Cheryl Kraff Cooper, MD Phillip & Sadra Cooper Ted & Mary Beth Coutilish/Laga Richard & Rosalee Daviso Mark & Boie Dissette Joatha & Mara Dorff Peter & Kari Espiosa Ira & Rebecca Fishma Mark & Cary Gersheso Joh & Madely Gibbs Todd & Marcia Grayso Mark & Marla Gruzi Radi Hagerma, MD & Paul Hagerma MD, PhD Joh Harriga & Stephaie Jacob Gail & Stephe Harris-Schmidt Kevi & Melaie Heiema Nacy & Paul Heisel Gail & Lyos Heyma Aita & Richard Iz Margaret & Marti Israel Rose & Scott Jahke Tricia & Joe Judge David & Joy Justus Stephe & Shirley Kaufma Lisa & Michael Kelley Maus Kraff, MD Deborah & Joh Kwa, DDS Marty & Terri Lag Tom & Peggy Lag Kim Miller Michael & Marily Morga Paul & Teresa Mulhause David L. Nelso, PhD Bobbi Newma Jaice Olse Joh & Tracey Petrides, MD J.C. & Viviaa Plaas Phil & Barbara Porterfield Tricia & Do Price Katherie & Markus Roeders Robert & Sher Rosefeld Adrew & Tammy Seliger Mary & Roger Seward Phyllis & Herbert Siegel Kimball & Jeifer Silverto Debra Skier Diae & Gifford Smith Russ & Lida Strad Robert & Ruth Strudler Caroly & Joh Tomberli Rosa & Agel Vega Sherri & Brad Whitus Help Us Celebrate Natioal Fragile X Awareess Day! Sed us a photo of your child doig oe of the 1,001 thigs our childre do that show them as the delightful, rouded, always iterestig ad self-determied idividuals they are! The write a ote about it to share with the Fragile X commuity. Just go to: FragileX.org/awareess/ ad follow the directios to help show the world your child, just like all childre, is more always more tha the sum of ay labels or diagoses we ca possibly give them. The Natioal Fragile X Foudatio Quarterly Issue 41 Jue

26 Five New Members Come A-Board J ust as every flower adds ew dimesio to a bouquet, ew people joiig the various boards ad committees that support the work of The Natioal Fragile X Foudatio help esure that fresh iputs, skills ad perspectives are costatly ehacig the foudatio s work. Below are brief capsules of ew NFXF board members who have joied over the past year. More iformatio about them ad cotiuig board members ca be foud at Ted Coutilish lives i Grosse Poite, Michiga with his wife, Mary Beth Laga, ad so, Adrew, 10, who was diagosed with FXS at age 21 moths i October The family subsequetly discovered that Mary Beth has FXPOI ad her dad, Jack Laga, has FXTAS. Ted has bee active i the Fragile X Associatio of Michiga ad the NFXF i assistig with marketig ad commuicatios eeds while also servig as associate vice presidet of marketig at Easter Michiga Uiversity. He co-writes a colum i The Grosse Poite News with Mary Beth etitled X-tra Special Advice, for parets of childre with special eeds. Dave Justus is the chief fiacial officer for a techology compay i Orage Couty, Califoria, where he resides with his wife Joy ad two sos: 5-yearold Jackso, who is uaffected, ad 2-year-old Tyler, who was diagosed with fragile X sydrome i No oe i either of the exteded families had ever heard of FXS prior to the. Oe moth later, Joy s father was diagosed with FXTAS. Dave coseted readily to joiig the board after experiecig the overwhelmig support services made available to his family through the existece of the NFXF. Kimberly Miller has worked i the developmet field for more tha 15 years with a variety of oprofit orgaizatios. She lives i Roswell, Georgia, with so, Adrew, 10, ad daughter Maddie, 8. After Adrew was diagosed with FXS at age 4 (Maddie is uaffected), she immediately called the NFXF ad talked with Executive Director Robert Miller (o relatio). Thus bega the buildig of multiple relatioships that quickly led her to serve i several key roles at the Iteratioal Fragile X Coferece i Atlata i Appoitmets to become a FX Associatio of Georgia LINKS leader ad co-chair of the NFXF Board Developmet Committee soo followed. JC Plaas served i the Florida State House of Represetatives from 2002 to He first became aware of Fragile X whe his cousi William was diagosed i That evet became the catalyst for his family s cotiuig commitmet to raise awareess ad participate wheever possible i Fragile X-related evets. While a legislator, he was istrumetal i helpig to secure start-up fudig for the Fragile X Cliic at the Uiversity of Miami, ad has participated i three Advocacy Days i Washigto D.C. He hopes to start a similar Advocacy Day effort i Florida. Jeifer Silverto shares two twee-age childre with her husbad Kimball at their home i Grad Blac, Michiga. Her so, Aida, 13, was diagosed with fragile X sydrome at age 2 ½, while daughter Camry, 11, is uaffected. After graduatig from Michiga State Uiversity with a degree i jouralism, she spet 12 years as a televisio ews reporter with atioal etwork affiliates i Michiga ad later worked o a etertaimet show i Los Ageles. She serves o the NFXF Commuicatios Committee, amog may other foudatio activities. 24 Issue 41 Jue 2011 The Natioal Fragile X Foudatio Quarterly