You'll probably initially bring up your concerns with your child's doctor. But after an exam, your child may be referred to one or more medical and genetics specialists for further testing and treatment.
Here's some information to help you get ready for your first appointment, and know what to expect from your doctor.
What you can do
- Write down any signs and symptoms your child has been experiencing, and for how long. If your child has had one or more seizures, take notes for the doctor about what happened before, during and after the seizure, and how long it lasted.
- Write down your child's key medical information, including other recent health problems and the names of all prescription and over-the-counter medications that your child is taking.
- Ask a trusted family member or friend to join you for the appointment. If your child's doctor mentions the possibility of tuberous sclerosis, you may have difficulty focusing on anything the doctor says next. Take someone along who can offer emotional support and can help you remember all of the information.
- Write down the questions you want to ask your doctor.
Questions to ask your child's doctor at the initial appointment include:
- What is likely causing my child's symptoms?
- Are there any other possible causes for these symptoms?
- What kinds of tests does my child need?
- Should my child see a specialist?
Questions to ask if you're referred to a specialist include:
- Does my child have tuberous sclerosis?
- What treatment options are available for this condition?
- What treatment approach do you recommend for my child?
- What are the possible complications of this condition?
- How often will you want to evaluate my child's health and development?
- Are my other children or family members at increased risk of this condition?
- Should I or my child be tested for the genetic mutations associated with this condition?
- What other types of specialists should my child see?
- Are there clinical trials under way for which my child may be eligible?
- How can I find other families who are coping with tuberous sclerosis?
- How can I help my child cope with this disorder?
What to expect from your doctor
A doctor who sees your child for possible tuberous sclerosis is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to talk about in-depth. The doctor may ask:
Nov. 01, 2011
- What are your child's symptoms?
- When did you first notice these symptoms?
- Has your child had any seizures?
- If your child has had one or more seizures, what had he or she been doing right before the seizure?
- What happens to your child during a seizure?
- How long have your child's seizures lasted, and how has your child felt and acted afterward?
- Have your child's symptoms included nausea and vomiting?
- Has your child had any behavior problems, such as hyperactivity, aggression, rage or self-injury?
- Does your child have difficulty paying attention?
- Has your child seemed to withdraw or become less socially and emotionally engaged?
- Does your child seem developmentally delayed compared with his or her peers?
- Have any of your child's first-degree relatives — such as a parent or sibling — been diagnosed with tuberous sclerosis, or had symptoms without ever being diagnosed?
- Do you plan on having more children?
- What else concerns you?
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Oct. 4, 2011.
- Seibert D, et al. Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences. Annals of Internal Medicine. 2011;154:806.
- Tuberous sclerosis complex. http://www.uptodate.com/home/index.html. Accessed Oct. 5, 2011.
- My child has tuberous sclerosis: A brochure for parents. Tuberous Sclerosis Alliance. http://www.tsalliance.org/publications/52810_NTSA.pdf. Accessed Oct. 4, 2011.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Oct. 4, 2011.
- DeKlotz CMC, et al. Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: Optimizing a treatment protocol. Archives of Dermatology. 2011;147:1116.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 8, 2011.