Tuberous sclerosis

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What is the life expectancy of a child with tuberous sclerosis?

Tuberous sclerosis is a highly variable disorder. This means the way the disorder affects one person can be very, very different from how it affects another person. This is true for people in the same family and even true for identical twins. This makes it very difficult to make broad statements about life expectancy for a person who is diagnosed with tuberous sclerosis. The disorder can cause mild symptoms and some people may go undiagnosed well into adulthood. In other instances, it can cause severe complications including intellectual disability, seizures that are resistant to treatment, and kidney problems. According to the Tuberous Sclerosis Alliance, most people with the disorder will have a normal life expectancy. However, every person is unique. People with tuberous sclerosis should discuss their individual situation with their or their child's doctors and entire medical team. Genetic counselors can offer information about how a gene change (mutation) in the TSC1 or TSC2 genes can cause tuberous sclerosis and how it affects the immediate family. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • What is TSC? The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/about-tsc/what-is-tsc/
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Where can caregivers of people with tuberous sclerosis get support?

If my child didn't get tuberous sclerosis from one of their parents, why is it called a genetic disorder?

What can I do for siblings of kids with tuberous sclerosis?

How do children with tuberous sclerosis do in school?

Are there early intervention programs for tuberous sclerosis?

Will my child outgrow tuberous sclerosis?

When should I tell my child about her tuberous sclerosis diagnosis?

How do I tell family members about my diagnosis of tuberous sclerosis?

How do children with tuberous sclerosis go from pediatric care to adult care?

What can I do if my child with tuberous sclerosis has mood problems or signs of depression?

Is tuberous sclerosis a form of cancer?

Is there anything people with tuberous sclerosis should avoid?

Is there a patient registry for tuberous sclerosis?

What kind of tumors form in tuberous sclerosis?

Where can I get financial help for tuberous sclerosis?

Where can caregivers of people with tuberous sclerosis get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with tuberous sclerosis. Caregivers of children with tuberous sclerosis have been shown to have lower physical and mental health-related quality of life scores. Caregivers need to take care of themselves as well as the person who has tuberous sclerosis. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for tuberous sclerosis include the Tuberous Sclerosis Alliance in the United States, the Tuberous Sclerosis Association in the United Kingdom and the Tuberous Sclerosis Canada Sclerose Tubereuse.

References
  • The Caregiver Action Network website. http://caregiveraction.org/
  • Rentz AM, Skalicky AM, Pashos CL, et al. Caring for Children With Tuberous Sclerosis Complex: What Is the Physical and Mental Health Impact on Caregivers? J Child Neurol. 2015;30(12):1574-81.
If my child didn't get tuberous sclerosis from one of their parents, why is it called a genetic disorder?

Sometimes there is no history of tuberous sclerosis in a family when a person is diagnosed. This is because sometimes an alteration (mutation or other change) to the gene can also happen at random for no known reason. This is called a de novo mutation. Sometimes, one parent of a child with tuberous sclerosis has a very mild form of the disorder and does not know it until testing is done after the child is diagnosed. Sometimes, this is because of mosaicism. Mosaicism is when a person has an altered gene in some of their cells, but not all of them. They may have very mild symptoms or no symptoms of the disorder, but can pass the disorder on to their children.

Talk to a genetic counselor to learn more about the genetics of tuberous sclerosis. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
What can I do for siblings of kids with tuberous sclerosis?

When infants and children have a chronic disorder like tuberous sclerosis, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

References
  • Houtzager BA, Oort FJ, Hoekstra-Weebers JE, et al. Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol. 2004;29(8):591-605. http://jpepsy.oxfordjournals.org/content/29/8/591.long
  • Barrera M. Siblings of Children with Rare Diseases are Psychosocially Vulnerable. [PowerPoint]. Vancouver, BC: Sibling Appreciation Day Children's Organ Transplant Society & Rare Disease Foundation; 2012. https://s3.amazonaws.com/childrensots/Siblings-Vancouver-2012_final.pdf
How do children with tuberous sclerosis do in school?

Tuberous sclerosis is a highly variable disorder. Some people do not develop symptoms in childhood or only have mild symptoms. These children can attend school and excel like all children. However, some children may have seizures, delays in reaching developmental milestones and other neurological problems.

Because they have a chronic illness, can experience learning disabilities, and some children have physical limitations, they may need special accommodations. Because they may need special accommodations in school, they may eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on tuberous sclerosis and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

The Tuberous Sclerosis Alliance runs an Educator Mentor Program (EMP) that was developed to support school systems in understanding the learning needs of children with TSC. This program includes administrators, therapists, physiologists, and teachers from pre-kindergarten to college level having experience with tuberous sclerosis. They provide one-on-one support to any professional in the school system needing education and support in understanding the educational complexities of the disorder. The Tuberous Sclerosis Alliance provides information and advice on how to deal with school issues in children with tuberous sclerosis.

References
Are there early intervention programs for tuberous sclerosis?

The first few years of a child's life are critically important to a child's development. Some infants and children with tuberous sclerosis have significant problems including seizures, delays in reaching developmental milestones, learning disabilities and other issues.

States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provides information about early intervention programs and assistance.

References
Will my child outgrow tuberous sclerosis?

Tuberous sclerosis is a genetic condition and there is no cure. A person will never outgrow the disorder. Tuberous sclerosis can affect people very differently. Some people have significant symptoms in infancy and childhood, while others have very mild symptoms and go undiagnosed until adulthood. Tuberous sclerosis is a progressive disorder and specific symptoms may develop at different times during a person's life. The tumors that people develop in tuberous sclerosis are not cancerous, meaning they don't spread (metastasize) to other areas of the body. However, these tumors can slowly grow larger damaging the surrounding tissue and causing symptoms. The rate of growth of the tumors can different in one person when compared to another. According to the Tuberous Sclerosis Alliance, most people with the disorder will have a normal life expectancy.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Curatolo P. Tuberous Sclerosis Complex. OrphaNet website. Accessed June 8, 2017. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=805
When should I tell my child about her tuberous sclerosis diagnosis?

Parents of children with chronic illness often struggle with when and how to tell their child about the diagnosis. Tuberous sclerosis is highly variable. Some children will have significant problems and it will be obvious that they have a medical disease. Others may have milder symptoms. Some parents may be unsure when to tell their child that they have a rare disorder. Most studies show that waiting to tell a child about a chronic or lifelong illness causes feelings of betrayal and anger. Additionally, keeping a diagnosis secret for too long has been shown to have an adverse effect on well-being throughout the person's life. Parents should talk to their pediatrician, a therapist or a genetic counselor about the best ways and time to talk to their child about diagnosis.

The Tuberous Sclerosis Alliance has advice on how to tell a child about their diagnosis including information on how families have handled this issue in the past. Global Genes, a rare disease advocacy organizations, has a RARE Toolkit that discusses how to explain a disease to the child.

References
  • How to Discuss Genetic Diseases with your Loved Ones. Global Genes website. https://globalgenes.org/toolkits/discussgenetics/who-to-tell/
  • Parents/Caregivers. The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/individuals-families/parentscaregivers/
How do I tell family members about my diagnosis of tuberous sclerosis?

Individuals with tuberous sclerosis and parents of children with the disorder often struggle with when and how to tell people about the diagnosis. Tuberous sclerosis is highly variable. Some children or adults will have significant problems and it will be obvious that they have a medical disorder. Other children or adults may have milder symptoms. It may not be readily apparent that they have a disorder. Some individuals or parents may be unsure when to tell relatives, friends or other people that they have a rare disorder. Individuals and parents should talk to their pediatrician, a therapist or a genetic counselor about the best ways and time to talk to their child about diagnosis.

The Tuberous Sclerosis Alliance has advice on how deal with a diagnosis of tuberous sclerosis including explaining how other families have handled these issues. Global Genes, a rare disease advocacy organizations, has a RARE Toolkit that discusses how to explain a rare genetic diagnosis to family members, children and friends.

References
  • How to Discuss Genetic Diseases with your Loved Ones. Global Genes website. https://globalgenes.org/toolkits/discussgenetics/who-to-tell/
  • Parents/Caregivers. The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/individuals-families/parentscaregivers/
How do children with tuberous sclerosis go from pediatric care to adult care?

Many children with tuberous sclerosis find it challenging when it's time to move (transition) from pediatric to adult care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and yourself. It can feel like 'starting over' as you'll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their therapy. They must bear greater responsibility for decisions concerning their health. Some hospitals have programs to help children with chronic disease transition to adult care services. Some families create a transition plan to help children move from pediatric care to adult care.

The Tuberous Sclerosis Alliance has information and advice about how young adults can take charge of their lives and manage their diagnosis. Global Genes, an organization that provides support and information for rare disorders, has a RARE Toolkit about young adults gaining independence and taking command of their healthcare.

References
  • Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia. 2014;55 Suppl 3:29-33. http://onlinelibrary.wiley.com/doi/10.1111/epi.12722/full
  • Taking Control: Gaining Independence as a Young Adult with a Rare Disease. Global Genes website.
  • Young Adults. The Tuberous Sclerosis Alliance website
What can I do if my child with tuberous sclerosis has mood problems or signs of depression?

It is recommended that children and adults with tuberous sclerosis received psychosocial support. This means that they should receive help for any psychological or social problems they may have. Tuberous sclerosis can cause children and adults to have to alter their life and can lead to feelings of isolation, anxiousness, depression and frustration. These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. For behavioral problems, or depression and other mood issues, counseling by a psychologist or being treated by a psychiatrist may be helpful as well. It is also beneficial to talk to other people and families that are dealing with the challenges of tuberous sclerosis. Support groups can provide support and networking opportunities. Support groups for tuberous sclerosis include: the Tuberous Sclerosis Alliance in the United States, the Tuberous Sclerosis Association in the United Kingdom and the Tuberous Sclerosis Canada Sclerose Tubereuse.

References
Is tuberous sclerosis a form of cancer?

Tuberous sclerosis is a genetic disorder. The main symptom is the development of a variety of benign (noncancerous) tumors. Tuberous sclerosis is not a form of cancer in the traditional sense. Most of the tumors in tuberous sclerosis do not become cancerous and spread (metastasize) to other areas of the body. Symptoms occur because these benign tumors grow and begin to damage the surrounding tissue. People with tuberous sclerosis are at risk for developing certain types of cancer, particularly those affecting the kidneys, brain and soft tissues of the body. Soft tissue is tissue of the body that does not harden (calcify) including ligaments, tendons, fat, skin, and muscle. Some tumors associated with this disorder can become cancerous including angiomyolipomas in the kidneys and subependymal giant cell tumors of the brain. Adults are at a greater risk of developing a form of kidney cell cancer called renal cell carcinoma.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220/[/link] Accessed 11JAN2020.
Is there anything people with tuberous sclerosis should avoid?

Some women with tuberous sclerosis are at risk of developing a lung disorder called lymphangioleiomyomatosis (LAM). Doctors believe that estrogen is a factor in this lung disorder developing. Because of the risk of lung disease, adolescent and adult females should avoid estrogen use and smoking.

People with tumors in the kidney should avoid undergoing surgical removal of a kidney (called a nephrectomy) because there is a risk of complications in people with tuberous sclerosis.

Most individuals with tuberous sclerosis develop benign tumors of the skin. Doctors recommend that these people take precautions to protect themselves from the sun. Many people have hypopigmented macules, which are white patches or spots that are lighter than the surrounding skin. These macules are susceptible to sunburns.

References
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220/[/link] Accessed 11JAN2020.
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
Is there a patient registry for tuberous sclerosis?

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. There is an international patient registry for tuberous sclerosis called TOSCA, or TuberOus SClerosis registry to increase disease Awareness. The Tuberous Sclerosis Alliance has a natural history database that collects clinical data about the disorder throughout a person's lifetime. This information is made to investigators.

Talk to a genetic counselor about the pros and cons of participating in a patient registry.

References
  • Kingswood JC, d'Augères GB, Belousova E, et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(1):2. https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0553-5
  • Natural History Database. The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/researchers/natural-history-database/#
  • Patient Registries. The National Center for Advancing Translational Science website. https://ncats.nih.gov/clinical/registries
What kind of tumors form in tuberous sclerosis?

Doctors will often use the term hamartoma when talking about the tumors that form in people with tuberous sclerosis. Hamartoma is a general term. It means that a tumor is made up of the cells normally found in the part of the body where the hamartoma is located. Hamartomas are benign (noncancerous) and do not spread to other areas of the body. They can grow larger and damage the surrounding tissues and organs.

Some people will develop tumors in the brain called glioneuronal hamartomas, subependymal giant cell astrocytomas (SEGAs), or cortical dysplasia. A common tumor of the kidneys is called an angiomyolipoma, which is made up of fat, blood vessels and smooth muscles cells. Some people have a tumor in the heart called a rhabdomyoma. Sometimes this tumor can form before a person is born and can be seen on a routine ultrasound of a developing fetus during pregnancy.

Nearly all people have problems affecting the skin. Infants may have white patches or spots on their skin. The affected skin may be lighter than the surrounding skin and can easily be missed on infants with fair skin. Between 3 and 5 years old, some children develop small bumps or red spots called angiofibromas. Angiofibromas most often appear on the face. Some people develop a dimpled, rough skin rash or patch of skin called a shagreen patch. There may be raised, thickened patches of skin called fibrous plaques.

These are some of the more common tumors associated with tuberous sclerosis. Talk to your doctors and entire medical team about how tuberous sclerosis is affecting your or your child.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: genetics, clinical features and diagnosis. UpToDate Inc. website. Accessed May 24, 2017. www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
Where can I get financial help for tuberous sclerosis?

For some families or individuals, the medical cost of tuberous sclerosis can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. Some individuals with tuberous sclerosis may find it difficult to deal with the financial costs of their disorder. Families or individuals may have trouble finding or affording health insurance. There are several organizations that provide financial assistance. The Tuberous Sclerosis Alliance can provide advice and guidance in managing these issues.

The Social Security Administration provides disability benefits for people who qualify. Tuberous sclerosis is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, some people with tuberous sclerosis may have specific symptoms that do qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

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