Teen Talk TSC: An A-Z Guide to Living with Tuberous Sclerosis Complex (TSC) G-AFI

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1 D Teen Talk TSC: An A-Z Guide to Living with Tuberous Sclerosis Complex (TSC) G-AFI

2 Living with a chronic disorder such as tuberous sclerosis complex (TSC) can be challenging for anyone teenagers included 1. This A-Z guide aims to make it easier to understand some of the challenges faced by teenagers with TSC, touching on specific topics that are especially important for adolescents with TSC.

3 CLIC ON ANY OF TE BELOW ICONS TO LIN DIRECTLY TO A SECIFIC TOIC D ANXIETY BODY IMAGE COLLEGE or UNIVERSITY DIALOGUE EILESY FRIENDS & FAMILY GYMS/ EXERCISE EALTCARE INCIDENCE JOINING IDNEY TUMORS LUNG DISEASE MANAGING TSC NUTRITION ORTODONTICS/ DENTAL CONCERNS ROGNOSIS UESTIONS RELATIONSIS SIN TRANSITION UNGUAL/ERIUNGUAL FIBROMAS VARIABILITY WELL BEING X-RAY/MRI/ MEDICAL TESTS YEAR-TO-YEAR ZZZZZs (SLEE)

4 D ANXIETY Because TSC is a complex condition that can affect everyone differently, it can be hard to grasp the different aspects of the disease, including the emotional impact of living with TSC. Research has shown that 45% of individuals with TSC develop anxiety and 29% report symptoms of depression. Attention-deficit/hyperactivity disorder (ADD), which can cause problems with inattention, hyperactivity and/or impulsivity, can also be more common in children with TSC. To help manage these conditions, teenagers with TSC may need emotional and psychological support systems, including a mental health professional as part of the core medical team 2.

5 BODY IMAGE D Individuals with TSC may develop symptoms in different parts of their body throughout their lifetime, with the natural course of the disease varying from person to person 1. During the teenage years, someone with TSC may experience brain lesions, seizures, skin lesions, kidney tumors, fingernail and toenail tumors, dental conditions and/or lung tumors 3. Sometimes symptoms associated with TSC that are visible to others, such as skin lesions, may affect the way teenagers feel about their body image, but it is important to remember that these symptoms are part of living with the disease and that healthcare professionals are available to help manage these aspects of the disease 1,3.

6 COLLEGE or UNIVERSITY D College or university is often an enriching and exciting time. With so many activities and changes in life, it is important for teens to prioritize TSC care and to ensure their disease is actively managed. On almost every campus there is a medical professional that can serve as a resource. While these individuals may not have a lot of information on TSC, teens may find it helpful to set up a meeting to discuss specific medical needs prior to attending school. In addition, it might be helpful to tell school officials, counselors or professors that you have TSC to help create a more flexible learning environment. These conversations early on may help ensure that you receive the right support throughout your time at school. Once you embark on your college journey, it is important that you set high expectations and goals for yourself. With the right support, teenagers living with TSC can excel and be extremely successful in school despite their diagnosis with TSC. To help ensure that you achieve high academic success during your time at school, consider having discussions with your professors about assignment deadlines, where you sit in the classroom and one-on-one meetings to review material or assignments. Always remember, college is a new and exciting experience, which comes with freedom, responsibility and the opportunity to experience new things. Don t let your TSC diagnosis hold you back from having a wonderful college experience!

7 DIALOGUE D As with any chronic disease, it is important that teenagers living with TSC stay in touch with their team of doctors, their family and friends, as well as their educators. When speaking with your TSC medical team, it is important to have ongoing conversations about disease management. This might include discussing any recent challenges, letting them know about new symptoms or feelings, as well as raising questions about care. Friends, family and your teachers are another valuable support system with whom you can have open conversations on everything from daily challenges of living with TSC to how to talk with others who are unfamiliar with the disease. Additionally, to help ensure you achieve high academic success while in school, it is also important to discuss with your teacher and school system about these challenges and how they may affect school performance.

8 D EILESY Some teenagers with TSC have a condition known as epilepsy. Epilepsy is a brain disorder that causes individuals to have repeated seizures over time. A seizure occurs when the body cannot manage brain signals properly. Seizures are present in up to 90% of individuals with TSC and may occur in individuals with TSC during childhood, continuing through adulthood. Seizures associated with TSC can be difficult to manage and can span an individual s lifetime 4.

9 FRIENDS and FAMILY D Friends are an important part of any teenager s life and one or two close friends can provide the additional emotional support valuable in the management of a chronic disease like TSC. Research has shown us that family and friends can play a huge role in helping people manage a chronic illness 2.

10 D GYMS/EXERCISE Some form of daily exercise or physical activity can be important to maintain a healthy lifestyle. owever, it is important to take the appropriate safety measures before participating in any demanding activities. Individuals with TSC who have epilepsy should avoid participation in sports where moments of inattention may lead to injury, such as skydiving, motor racing, gymnastics or swimming 5. Talk to your doctor or healthcare professional about which exercises and activities are right for you.

11 D EALTCARE Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor to actively manage the disease over the long term. eople with TSC may see multiple doctors since the disease affects many parts of the body 4. For instance, when individuals are first diagnosed with TSC, the focus of medical care tends to be on some of the clinical manifestations of the disease, such as heart tumors, skin lesions or brain tumors called SEN and SEGAs (subependymal nodules and subependymal giant cell astrocytomas) if an individual is diagnosed in infancy or childhood; and on kidney tumors (renal angiomyolipomas) and lung disease (found mostly in women), if an individual is diagnosed in later in life. These symptoms may not initially take into account the emotional toll that having TSC may bring. Therefore, it can be important to involve mental health professionals, such as psychiatrists and psychologists, to help monitor the emotional and mental aspects of the disease 2. While there is currently no cure for TSC, there are different options available for individuals with TSC to help manage a number of the symptoms 1,2.

12 D INCIDENCE eople living with TSC are not alone. Up to one million people worldwide, including up to 50,000 in the United States (U.S.), are affected by the disease 1,6. TSC occurs in all races, ethnic groups and both genders. The disease affects an estimated one in 6,000 newborns, though many cases are undiagnosed in infants due to mild forms of initial symptoms. About one-third of all people with TSC genetically inherit the disease, while in the remaining people with TSC, the disease is acquired as a result of spontaneous genetic mutation 1.

13 JOINING Throughout the world, many different TSC advocacy organizations provide resources to individuals and their families who are affected by this lifelong condition. For example, Tuberous Sclerosis Complex International (TSCi) is a collection of TSC organizations that support individuals with TSC around the world. The TSCi serves as a forum for the organizations to share information, exchange ideas, and support individuals with TSC and their families, caregivers, educators and healthcare providers. There are currently 28 local TSC advocacy organizations throughout the world. Visit to locate an advocacy organization in your area and to find out about ways you may be able to get involved. Tuberous Sclerosis (TS) Alliance is the primary advocacy organization in the U.S. The TS Alliance provides a full-time advocate available by telephone and , and has a comprehensive website with free publications, videos and recordings designed to educate and offer support. The TS Alliance also supports 32 volunteer-run branches across the country called Community Alliances that offer experience, knowledge and support. Online social networks dedicated to TSC are sponsored by the TS Alliance to connect those affected by TSC regardless of where they live. Visit to find out more information.

14 D IDNEY TUMORS Non-cancerous kidney tumors associated with TSC, also known as renal angiomyolipomas, are one of the most common manifestations in people with TSC and tend to develop between the ages of 15 and 30. Often times, these kidney tumors cause little or no harm and may not even produce symptoms, but sometimes they can be hard to manage depending on the size, number and location of the tumors. eople with TSC should have their kidneys scanned using an MRI, CT scan or ultrasound at the time of diagnosis and then monitored regularly throughout their lives 1.

15 D LUNG DISEASE Lymphangioleiomyomatosis, or LAM for short, is the most common type of pulmonary (lung) lesion in people living with TSC. There are two forms of LAM; one that occurs mostly in women and another, sporadic LAM, that occurs for unknown reasons. Earlier studies have reported that the prevalence of LAM in TSC patients is between approximately 1% and 2.3%. owever, more recent studies have demonstrated a higher prevalence in female patients: between 26% and 34%. In male patients, the reported prevalence is very low 7.

16 D MANAGING TSC TSC may be a lifelong condition therefore individuals need to be monitored by a doctor to ensure they are receiving the best possible care. To address the multisystem nature of the disease, many individuals with TSC may see several doctors including a neurologist, nephrologist, urologist, dermatologist, psychologist, epileptologist, geneticist and pulmonologist. In most people with TSC, the first element of managing the disease is making the appropriate diagnosis by identifying major and minor diagnostic features 3.

17 D NUTRITION While there is no recommended diet specifically for people living with TSC, eating a balanced and nutritious diet is an important part of maintaining an overall healthy lifestyle, just like getting regular exercise, plenty of sleep and taking care of your physical and emotional health. It is important to eat healthy foods like fat-free and lowfat dairy products and seafood and to try to consume less sodium, saturated and trans fats, added sugars and refined grains. Talk to your doctor or healthcare professional about a diet that is right for you.

18 ORTODONTICS/DENTAL CONCERNS Many teenagers have some form of orthodontia like dental braces, so it s common for people with TSC to wonder if having braces affects the regular scans (such as MRIs) that are needed to monitor for tumors 8. Wearing braces during a scan doesn t pose a health risk, but it is important for you to inform the medical professional conducting the scan if you have braces so they can take any necessary precautions. Another concern for teenagers with TSC may be what are called gingival fibromas, which are growths involving the gingival, or gums, of the mouth that can sometimes cause bleeding. Gingival fibromas may be surgically removed by a dentist or oral surgeon 9. Dental pits, another common symptom that frequently occur in individuals with TSC, are holes in the enamel of permanent teeth and can be a concern for individuals with TSC 10. One way to treat dental pits can be with sodium fluoride, which strengthens enamel. Sometimes sealants (clear, plastic coating applied to the surface of the tooth) can be used to shield against bacteria and prevent decay 11. Talk to your dentist or orthodontist about the best way to manage dental pits.

19 D ROGNOSIS TSC may be a lifelong genetic disorder. owever, because symptoms vary from patient to patient and can take years to develop, many children and teenagers are not diagnosed until later in life. Since signs and symptoms of TSC may differ for each person and change over time, people with TSC should ideally be monitored by a specialist experienced with the disorder to ensure they are receiving the best possible care. Those with mild symptoms have a normal life expectancy, while those who are severely affected can suffer from debilitating and potentially life-threatening symptoms 1.

20 UESTIONS TSC is a complicated condition and it is important to fully understand the symptoms. Each medical appointment offers an opportunity to discuss questions or concerns. Some questions relevant to teenagers may be: I have renal angiomyolipomas (kidney tumors) and am afraid they may start to bleed. Will I be able to feel it if my kidney tumors start bleeding? Is it safe for me to play sports or exercise? Are there any precautions I should take or activities I should avoid? ow much exercise is healthy for someone with my condition? I want to be sure I am doing everything I can to maintain a healthy lifestyle. Is there a recommended diet for someone with TSC? Sometimes I have seizures, but I have never been in a situation where my parents are not with me when I have one. What do I do if I am by myself and have a seizure?

21 RELATIONSIS As a teenager, you may find that you and some of your friends are considering entering into serious relationships. This is an exciting time in any teenager s life; however, entering into a serious relationship comes with responsibility. Teenagers in serious relationships may be faced with the question of moving into an intimate relationship. This question is a personal one and it is important to be well informed. Before entering into an intimate relationship, it is important to have all the facts. Even though it may feel uncomfortable, it is helpful and reassuring to speak with your parents, guardians, a trusted relative or healthcare professional. They can direct you toward helpful resources to help you make an informed decision.

22 D SIN Skin lesions affect more than 90% of people with TSC 3. One type called facial angiofibromas are reddish raised lumps or spots that some people with TSC have on their face, often around the nose and across the cheeks. These sometimes resemble acne and tend to become more prominent during adolescence 10.

23 D As teenagers with TSC enter and transition into adulthood, they may experience a gap in care 12. Typically, pediatric TSC specialists are professionally equipped to treat all disease symptoms, but adult physicians usually specialize in symptoms associated with a specific organ/body system, such as nephrologists who treat kidneys or neurologists who treat the central nervous system 3,10. As a result, it becomes even more important during this transitional phase to engage all of the necessary specialists to ensure they are collaborating and communicating about your appropriate care. Additionally, the transition from school to community is also an important time in the life of any teenager with TSC. For those with learning disabilities, in some countries like the United States, each school system is required to provide a transition plan for students in special education at age 16 to help with a smooth transition. The transition plan should include plans for college, advice about employment, information about assistive living and goals and services needed for the individual to accomplish all that he or she wants in life. TRANSITION

24 UNGUAL/ERIUNGUAL FIBROMAS Ungual and periungual fibromas, also known as oenen tumors, are fingernail and toenail tumors associated with TSC. These tumors can be smooth or flesh-colored bumps under or around the skin of nail beds. Ungual and periungual fibromas usually appear more commonly in adolescents 10.

25 VARIABILITY TSC is a multisystem disorder that can affect many different parts of the body, including the brain and kidney as well as the heart, lungs, eyes and skin. Individuals with TSC can have a variety of symptoms depending on the severity of their diagnosis. Some individuals can develop kidney tumors, while others can develop SEGAs or facial angiofibromas. The symptoms of this disease vary from individual to individual. While TSC is an autosomal dominant disorder meaning the disorder can be transmitted directly from parent to child children who inherit TSC may not have the same symptoms as their parent and may have either a milder or more severe form of TSC 1.

26 D Because TSC is a complex condition that affects each person differently, it can sometimes be hard to understand the many aspects of the disease and to sort through the emotional impact of living with TSC. In addition to regular medical appointments, it may be helpful to also periodically meet with a psychiatrist or other mental health professional. As part of a complete healthcare team, a mental health professional can help identify and manage symptoms of depression or anxiety, monitor progress and help address emotional concerns 2,12. WELL BEING

27 X-RAY/MRI/MEDICAL TESTS In order to manage TSC, teenagers may undergo many types of exams and procedures throughout their lifetime including, but not limited to, ultrasounds, CT scans, X-rays, an MRI and ultraviolet light examinations. While an MRI and X-rays are both imaging techniques for organs of the body, the difference is that MRI images provide a 3D representation of organs, which X-rays usually cannot 1.

28 YEAR-TO-YEAR Everyone s body is different and each teenager with TSC may develop different symptoms. Teenagers, in particular, may experience epilepsy/seizures, skin lesions, kidney tumors, fingernail and toenail tumors and dental conditions 3. It is important to have routine medical appointments throughout the year to help stay healthy and avoid any complications.

29 ZZZZZs (SLEE) Many individuals with TSC suffer from sleep issues including not being able to fall asleep or not being able to stay asleep throughout the night. Additionally, some individuals with TSC might experience sleep problems after an epileptic episode 2,13. Seizures can occur sporadically or on a consistent basis. Some individuals experience seizures only at night, while others experience them at different points throughout the day 8. Talk with your doctor about ways to make sure you are getting the right amount of sleep.

30 References: 1. National Institute of Neurological Disorders and Stroke. Tuberous Sclerosis Fact Sheet. Available at Accessed April rather et al. Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex. J Child Neurol Sept;19(9): Crino, et al. The Tuberous Sclerosis Complex. N Engl J Med Sep; 355(13): Thiele E. Managing Epilepsy in Tuberous Sclerosis Complex. J Child Neurol Apr;680(19): National Library of Medicine and the National Institutes of ealth. Seizures. Available at Accessed April Budde, et al. Tuberous Sclerosis Complex Associated Angiomyolipomas. Am J idney Dis. 2012; 59: Adriaensen et al. Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex. Clinical Radiology. 2011; 66: atel, A et al. MRI scanning and orthodontics. Journal of Orthodontics. 2006; 33: National Center for Biotechnology Information. Oral Findings in 58 Adults with Tuberous Sclerosis Complex. Available at pmc/articles/mc /. Accessed April Leung A, et. al. Tuberous Sclerosis Complex: A review. J ediatr ealth Care Mar;21(2): National Institute of Dental and Craniofacial Research. Seal Out Tooth Decay. Available at Accessed April de Vries,. et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis. Eur Child Adolesc sychiatry. 2005; 14: van Eeghen, A. M. et al. Characterizing sleep disorders of adults with tuberous sclerosis complex: A questionnaire-based study and review. Epilepsy & Behavior. 2011; 20: Novartis harma AG C 4002 Basel Switzerland Novartis 2014 April 2014 G-AFI Novartis harmaceuticals Corporation East anover, New Jersey

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