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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.
Symptoms of ALD may include:
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.
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.
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:
We’ll talk with you about:
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:
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.
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.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.