You'll likely 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 genetic specialists for more 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
Before your appointment, make a list of:
- Any signs and symptoms your child has been experiencing, and for how long. If your child has had one or more seizures, make notes about what happened before, during and after the seizure and how long it lasted.
- Your child's key medical information, including other recent health problems.
- All medications, vitamins and other supplements your child is taking and the dosages.
- Information about your family history, including whether anyone else in your family has tuberous sclerosis.
- Questions you want to ask your doctor.
Ask a trusted family member or friend to join you for the appointment. Take someone along who can offer emotional support and can help you remember all of the information.
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 are the treatment options 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 help my child cope with this disorder?
- How can I find other families who are coping with tuberous sclerosis?
What to expect from your doctor
A doctor who sees your child for possible tuberous sclerosis will likely ask you a number of questions. Be ready to answer them to reserve time to go over points you want to talk about in-depth. The doctor may ask:
Nov. 25, 2014
- 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?
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 28, 2014.
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Sept. 23, 2014.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Sept. 23, 2014.
- Tuberous sclerosis. National Organization for Rare Disorders. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/35/viewFullReport. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Genetics, clinical features, and diagnosis. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Management. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Krueger DA, et al. Tuberous sclerosis complex surveillance and management: Recommendation of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49:255.
- About TSA. Tuberous Sclerosis Alliance. http://www.tsalliance.org/. Accessed Sept. 30, 2014.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 4, 2014.