The symptoms of cerebral ALD are quite varied. Boys can start to show symptoms that include vision changes, hyperactivity, and learning difficulties. Some have difficult writing, behavioral changes, clumsiness, and difficulty understanding speech.

If the disease spreads throughout the brain, symptoms grow worse, including blindness, deafness, seizures, loss of muscle control, and eventually a vegetative state or death.

ALD is diagnosed through a blood test, which analyzes the amount of very long chain fatty acids (VLCFAs). Individuals with ALD have elevated VLCFAs. The diagnosis of cerebral ALD is made chiefly by MRI and visualizing white matter changes accompanied by contrast enhancement.

ALD Connect hosts a Community Call for Cerebral ALD families each month. Be sure to follow us on social media and subscribe to our newsletter to watch for the announcements. You can also bookmark our Community Calendar, which is were we post the links to register for the Community Calls.

On May 12, 2021, ALD Connect hosted a Bootcamp for Cerebral ALD families. The recordings are below.

Transplant 101: BMT and Gene Therapy
Dr. Troy Lund
Dr. Florian Eichler

The Transplant Journey: A Mother’s View
Gina Cousineau

The Lapin Family

We are Eve Lapin and Bobby Lapin, and we would like to share our family’s story with you.

Our oldest son, Oliver, was diagnosed with Adrenoleukodystrophy (ALD) in December 2000. When Oliver was born, he was a happy and healthy baby and, as a toddler and young boy, he was sweet and smart and an absolute pleasure.  However, when he was 7 years old, Oliver started forgetting things and repeating himself.  By the end of first grade, he started having trouble staying focused and paying attention, and this once bright and wonderful little boy started to misbehave.  We took Oliver to many doctors and specialists who continued to mis-diagnose and incorrectly medicate him as his symptoms continued to worsen.  Finally, when Oliver was 8 1/2 years old, he underwent an MRI of his brain which revealed that he was suffering from ALD.

By the time we learned of Oliver’s true diagnosis, the disease had progressed too far for any medical treatment to help him.  We cared for him at home and gave him love and comfort and dignity as he continued to lose abilities.  Over the ensuing four years, he lost his ability to see, to walk, to talk, to move and, ultimately, he passed away at home the day before his 12^th birthday.  There is a big hole in our hearts, and we miss him every day.

When  Oliver, as our oldest son, was diagnosed with ALD, we learned it was a genetic disease, and so we tested everyone in the family.  We learned that our middle son, Elliott, had the defective ALD gene, while our youngest son, Alec, thankfully did not. Elliott underwent a stem cell transplant in May 2002 to halt the disease and is now doing well.  Elliott, graduated from Stanford University in 2016 and is working as a reporter for the Houston Chronicle.

The Smith Family

I thought he had too much wax in his ears. That’s how this started, wax. My boys always have gross waxy ears, no matter how much I clean them. Pretty gross right? I thought Grady couldn’t hear me well because of waxy ears.

After about two weeks, I decided to bring Grady to his pediatrician. She checked and they were clear. We proceeded to do a hearing test. He passed. Gut punch #1.

His pediatrician suggested we follow up with ENT. I asked if it could be neurological. She didn’t think so, everything else was perfect. About an hour after we got home, she called me saying, “You are not an alarmist with the kids, let’s see an ENT today”.

She got us in, and he passed most of the exams. Gut punch #2. I knew something bad was coming. My husband and I took Grady to Boston Children’s Hospital right from the ENT.

I felt like we had to push to really get them to listen. Neuro came and did a consult. Physically he checked out perfect. Then, the doctor asked, “What is 3×4…” Grady said, “Football”. Now we were crying. Something was really wrong. They came back and said they felt he was fine to go home, and out came Mama Bear. We told them we did not feel comfortable bringing him home. Twice. We told them SOMETHING is wrong with our son. I begged to scan him then. Sobbing. They felt a scan could wait and would book it in the weeks to come. So, we went home. Sick to our stomachs. The next morning, I woke up, called the pediatrician, and told them that I was bringing Grady back to Children’s and I wasn’t leaving until they scanned him. Long story short, a few frustrating hours later, they did. Gut punch #3…….and the death of the “old me”. They told us that they believed Grady had ALD. What the hell is ALD?!? I Googled it, alone in the “quiet room” after an ER doctor told me not to. Google was obviously lying because there was no WAY my football and basketball obsessed boy was going to die in 1-5 years. Part of me died then.

We were referred to a neurological team specializing in ALD. With a Loes score of 10, our new team felt that perhaps Grady might lose some hearing, some vision, he might have a change in his gait. We could handle anything as long as he was with us. With newfound strength we got ready to fight. Admitted to the hospital on 9/11/18 and met what came to be some new “family” members (his loving nurses), chemo started the next day. Grady was a rockstar. Me, not so much – I dubbed myself “the neurotic mom in room 613” . He was transplanted 9/20/18.  Celebrated his 8th birthday on 10/2/18 and also started engrafting that same day. We were home 10/11/18.

We were trying to come to terms with some signs of ALD that presented post-transplant, like an Auditory Processing Disorder. Grady can hear us, but he struggles to understand language. Luckily – that’s his ONLY deficit. He is a miracle boy!

Other than not really looking like Grady from all the prednisone and stupid hairy cyclosporine, he is still the same Grady, but he is angry.  So angry, and rightfully so. Some days are better than others, but he is here and doing amazing. There is hope – so much hope.  This disease is awful, but if he has to have it, I’m glad to have found the people I have in this ALD community.