ALD is an inherited condition caused by a faulty gene. In children with ALD, the body can’t break down certain fatty acids, which are the building blocks of fat.
As a result, levels of these fatty acids build up in the brain and nervous system. This prevents nerve cells from sending signals to the body.
ALD Symptoms
Symptoms of ALD may include:
- Trouble swallowing or understanding speech.
- Impaired hearing or vision.
- Muscle spasms.
- Seizures.
The faulty gene that causes ALD is on the X chromosome.
The childhood form of the disease affects boys and symptoms often appear between ages 4 and 10.
Your Child’s ALD Consult and Care: What to Expect
If doctors diagnosed your child with adrenoleukodystrophy, we want you to know that you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help.
Here’s what you can expect when you and your child come to us for a consult.
What will happen during our first visit to the CRDT?
Your first visit will take 4 to 6 hours.
Your child will receive a thorough exam by our experts of the Neurodevelopment in Rare Disorders (NDRD) Program.
They’ll confirm or make a precise ALD diagnosis and decide how much the disease has progressed.
Since we work as a team, other doctors and staff may also see your child.
They include such as experts in:
- Genetic diseases.
- Brain diseases.
- Child development.
- Hearing.
- Physical therapy.
What happens after my child’s ALD consult?
We’ll talk with you about:
- What to expect is likely to happen with your child in the near future.
- How you can care for your child at home.
- What ALD treatment options might be right for your child.
If surgery is an option, we’ll give you details on what to expect and how to prepare.
Please ask us any questions about your child’s ALD, treatments, or anything else on your mind.
By the end of your visit, you will have:
- An ALD care plan tailored to your child’s needs.
- An appointment for a follow-up visit to the CRDT in 3 months.
- A brief meeting with our nurse practitioner. You can call or or video conference them with questions or concerns before your next appointment.
How long will I wait for my child’s ALD test results?
You can expect a phone call within 2 weeks to explain test results and discuss next steps.
You can also find your child’s test on MyCHP.
MyCHP is UPMC Children’s Hospital’s patient portral, free to our patients, parents, and guardians.
Partners in Your Child’s ALD Care
When a child has a rare disease like adrenoleukodystrophy, it affects the whole family.
You know your child better than anyone else. That’s why the CRDT sees you as our partners in your child’s ALD care.
The best care approach happens when we merge our ALD knowledge with your expertise in what’s best for your child.
Meet Our Rare Disease Center Patients