Identifying Needs, Implementing Services in the Indiana Plain Community
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1 Identifying Needs, Implementing Services in the Indiana Plain Community Chris Roberson, JD, MPH Director of Compliance & Community Programs The Indiana Hemophilia & Thrombosis Center Board of Directors The Community Health Clinic Rebecca Evans, LCGC Gene9c Counselor The Indiana Hemophilia & Thrombosis Center The Community Health Clinic
2 q Indiana 47,35 Amish Individuals e Indiana Plain People se@lements q 3rd largest Amish se@lement located in northern IN Elkhart and LaGrange counfes contain,560 Amish individuals q Mennonites in the area as well
3
4 HTC Comprehensive Model of Care q Non- profit/mission driven q MulHdisciplinary Physician, PA/NP, Nurse(s), Physical Therapy, Social Workers, DieFFan, Dental Hygiene, GeneFc Counseling, Risk ReducFon, Research, Career Counseling q Family/paHent centered q Part of nahonal network of 40 centers q Public Health Service pharmacy funded
5 Amish patients with bleeding disorders Diagnosis # Amish pahents Factor IX deficiency 48 Factor VIII deficiency VWD Type 5 VWD Type M 74 PAI- deficiency Factor IX low level carrier Factor IX non- low level carrier 50 Factor VIII low level carrier Factor VIII non- low level carrier 8
6 Amish bleeding disorder mutations q FIX deficiency (XL) 3008 C>T q FVIII deficiency (XL) Intron inversion q VWD M (AD) 40 C>T q VWD (AD) mutafon unknown q PAI- deficiency (AR) bp inserfon (TA) at 3 end of exon 4 resulfng in a frameshi_ and new stop codon
7 Clotting factor concentrate utilized by the Amish in Indiana Millions
8 e Community Dental Clinic
9 e Amish CDC
10 e Community Health Clinic
11 What has the CHC done to date? q 009 Established as a non- profit 50(c)(3) organizafon CollaboraFng with Dr. Morton in Pennsylvania & Dr. Wang in Ohio Wrote a Business Plan Formed board of directors and began meefng Fundraising: Community AucFon Bought land for permanent site q 00 Physician recruitment Private foundafon grant wrifng Fundraising from private donors Newsle@er Benefit AucHon
12 What has the CHC done to date? q 0 Physician recruitment Renovated temporary space in the basement of Dr. Egli s office Fundraising 0 Dutch Dinner Financial Counseling with Melvin Miller IniFated GeneFc Survey of the community q 0 Launched bill counseling/negofafng service Abstracts presented at ACMG/SIMD Survey ImplementaFon Launched the website
13 e need for bill negotiating services
14 Physician Recruitment
15 0-3 q Forged relahonship with University of Michigan & Parkview Health Systems q State Department of Health Grants NBS Follow- up MCH GeneFcs Medical Home q Hired PracHce Manager, Nurse PracHHoner, nd Physician RecruiFng Nurse, DieFFan, RecepFonist/MA
16 Plans in 03 q ConHnue to prepare for the opening of the CHC q CHC Survey of all households to idenhfy families needing our services q Fundraising 03 Dutch Dinner Apply for grant funding Plan for a 04 Community AucFon q Most importantly, open the clinic to start seeing and treahng pahents q Build an educahon resource room
17 Future plans beyond 03 q Start a CHC research program q Expand lab services offered at the CHC q Implement an in- house pharmacy Will include some natural supplements & pharmacist who understands both medicafons and supplements and their interacfons q Build a permanent locahon q Expand to primary care
18 Preliminary results of the CHC s community-wide genetic survey
19 e CHC Survey q Purpose of survey Catalogue and determine prevalence of genefc disorders IdenFfy needs/allocate resources q Process of the survey Pilot phase, revisions, full phase
20 Progress q 00 Amish church districts engaged ~5,05 households ~3,744 individuals q 4 districts returned some surveys,96 households,99 individuals q Current response rate Households: 45% Individuals: 47%
21 Progress q 09 church districts in catchment area LaGrange, Elkhart, & Nappanee area q 6 districts engaged to date ~,57 households ~5,400-8,400 individuals q 8 districts returned some surveys 7 households,35 individuals q Current response rate Households: 3.5% Individuals: 6-5%
22 Survey Results To Date Complex CondiFon, Chromosome, 30, 0% 65, % Birth Defect, 78, % Carrier, 8, 0% Metabolic, 4, 0% Other genefc, 3, % Mental health, 36, 0% Suspected, 90, % No Special Needs, 0499, 94%
23 Turner syndrome Trichothiodystrophy Ruvalcaba- Myhre syndrome Propionic acidemia PAI- clopng polymorphism Nevus sebaceous syndrome Neurofibromatosis MCAD deficiency InconFnenFa pigmenf Hemachromatosis Gitelman syndrome Crigler- Najjar syndrome CarFlage hair hypoplasia Arteriovenous malformafon AnFthrombin (AT3) deficiency Alpha - anftrypsin deficiency q3.3 delefon syndrome p36 delefon syndrome MSUD Methylmalonic acidemia Hirschprungs GM3 synthase deficiency Galactosemia Factor V Leiden Dilated cardiomyopathy Congenital diaphragmafc hernia Muscular dystrophy Duchenne muscular dystrophy CysFc hygroma Club foot PolycysFc kidney disease Neural tube defects Severe combined immunodeficiency (RAG) 6p. microdelefon Trisomy 8 Other aneuploidy CysFc fibrosis Hypospadias Hypertrophic cardiomyopathy Down syndrome Congenital adrenal hyperplasia Charcot Marie Tooth disease Cle_ lip +/- palate Hemophilia Congenital heart defect PKU Von Willebrand disease
24 Other Data Maple syrup urine disease Zellweger syndrome 4 Spinal muscular atrophy I 5 Refsum disease 3 ITCH E3 ubiquifn ligase deficiency CysFc fibrosis 5 SymptomaFc epilepsy and skull dysplasia 5 GM3 synthase deficiency 4 Propionic acidemia 7 Methylmalonic acidemia Duchenne muscular dystrophy Charcot- Marie- Tooth disease Deceased Living Severe combined immunodeficiency - RAG 8 4 Severe combined immunodeficiency - ADA deficiency 9 3 NonketoFc hyperglycinemia 7 6 Dystonia 6 Phenylketonuria Congenital adrenal hyperplasia 7 CarFlage- hair hypoplasia 8 Limb- girdle muscular dystrophy
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