Depending on your child's signs and symptoms, he or she may be evaluated by several different specialists with expertise in tuberous sclerosis, such as doctors trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist), kidneys (nephrologist), and other specialists.
Your child's doctors will do a physical exam, discuss symptoms and family history, and look for typical growths (benign tumors), commonly associated with tuberous sclerosis. They will also likely order several tests — including genetic tests — to diagnose tuberous sclerosis and identify related problems.
If your child has had seizures, diagnostic testing will likely include an electroencephalogram. This test records electrical activity in the brain and can help pinpoint what's causing your child's seizures.
Brain, lungs, kidneys and liver evaluation
To detect growths or tumors in the body, diagnostic testing will likely include:
- Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
- Computerized tomography (CT) scan. This X-ray technique produces cross-sectional images, and sometimes 3-D images, of the brain or other parts of the body.
- Ultrasound. Also called sonography, this test uses high-frequency sound waves to create images of certain body parts, such as the kidneys.
To determine whether your child's heart is affected, diagnostic testing will likely include:
- Echocardiogram. This test uses sound waves to produce images of the heart.
- Electrocardiogram (ECG or EKG). This test records the electrical activity of the heart.
A light and magnifying lens are used to examine the inside of the eye, including the retina.
Developmental or psychiatric evaluation
If needed based on routine screening, an evaluation with a psychiatrist, psychologist or other mental health provider can identify developmental or intellectual disabilities, educational or social problems, or behavioral or emotional disorders.
Screening and genetic testing
If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may consider screening for tuberous sclerosis as well.
Parents may also consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, and to understand the risk of tuberous sclerosis for their other children and any future children.
People with tuberous sclerosis may consider genetic counseling before their reproductive years to understand their risk of passing on the condition and their reproductive options.
Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example:
- Medication. Anti-seizure medications may be prescribed to control seizures. Other medications may help manage heart arrhythmias, behavior problems or other signs and symptoms. A drug called everolimus (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be surgically removed. The topical ointment form of a drug called sirolimus may help treat acnelike skin growths.
- Surgery. If a growth affects the ability of a specific organ — such as the kidney or heart — to function, the growth may be surgically removed. Sometimes surgery helps control seizures caused by brain growths that don't respond to medication. Surgical procedures such as dermabrasion or laser treatment may improve the appearance of skin growths.
- Various types of therapy. Early intervention services, such as occupational, physical or speech therapy, can help children with tuberous sclerosis who have special needs in these areas improve their ability to manage daily tasks and activities.
- Educational and vocational services. Early intervention and special needs services can help children with developmental delays and behavior issues adapt to the classroom so that they can meet their full potential. When needed, social, vocational and rehabilitation services may continue throughout life.
- Psychiatric and behavior management. Talking with a mental health provider may help children accept and adjust to living with this disorder. A mental health provider can also help address behavioral, social or emotional issues and recommend resources.
Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many signs and symptoms may take years to develop. A schedule of regular follow-up monitoring throughout life may include tests similar to those done during diagnosis. Early identification of problems can help prevent complications.
Coping and support
If your child is diagnosed with tuberous sclerosis, you and your family may face a number of challenges and uncertainties. One of the most difficult things about this condition is that it's impossible to predict how your child's health and development will unfold over time.
Your child may have only mild problems and track closely with peers in terms of academic, social and physical abilities. Or your child may have more-serious health and developmental problems and lead a life that is less independent or is different from what you may have expected.
To help you and your child cope, here's what you can do:
- Establish a screening schedule. Learn all you can about tuberous sclerosis, and work closely with your child's doctor to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will reduce complications.
- Get help early for behavioral problems. For parents, the behavioral issues that may accompany tuberous sclerosis can be challenging. Remember that the behavior is not your fault — and it's not your child's fault. Talk to your child's doctor if problems develop, and work with the school or a mental health provider to discuss education and behavioral and mental health services. The earlier you and your child get help learning how to manage these problems, the more likely your child will do well in the long term.
- Provide love and support. Your love and support are essential to helping your child reach his or her full potential. When needed, counseling with a mental health provider may help with adjustment and coping. Respite care services may provide helpful support for parents.
- Connect with other families. You may find it helpful to connect with other families who are coping with tuberous sclerosis. Ask your child's health care team to recommend a support group in your area, or contact the Tuberous Sclerosis Alliance to find out about support.
Preparing for your appointment
Signs and symptoms of tuberous sclerosis may be noticed at birth. Or you may initially bring up your concerns with your child's doctor. After an exam, your child may be referred to one or more specialists for more testing and treatment.
You may want to 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.
Here's some information to help you get ready for your first appointment.
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. Note any birthmarks of concern to you.
- Your child's key medical information, including other health problems.
- All medications, vitamins, herbs 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.
Questions to ask your child's doctor may 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 underway 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 focus on. The doctor may ask:
- What are your child's symptoms?
- When did you first notice these symptoms?
- Has your child had any seizures?
- If your child has had seizures, tell me about them ― what happened before, during and after the seizure and how long did it last?
- Haves symptoms included nausea and vomiting?
- Has your child had any behavior problems, such as hyperactivity, aggression 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 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?