“Imagine not knowing whether your child is a ticking time bomb.” That was the frightening situation Maria and her husband, Brian, found themselves in 2023. The couple had learned that their son Patrick had a gene/variant of unclear significance for a rare genetic disorder called adrenoleukodystrophy (ALD) which causes damage to nerve cells. What remained unknown was whether Patrick had the more serious form of the disorder – a condition that could end his life before he reached adulthood.
X-linked ALD affects mainly boys and is a progressive form of ALD that causes the brain and spinal cord to deteriorate, leading to rapid onset of medical challenges and eventually early death.
In standard practice, clinical teams monitor the patient over time for disease progression with regular brain imaging and blood work and clinical examination. The medical surveillance process required that Patrick undergo blood testing and an MRI of his brain every six months over a period of years to monitor disease progression. These two procedures present challenges for any child. Because Patrick is on the autism spectrum, the testing was particularly stressful for him and his entire family.
Happily, the family was referred to Dr. Parul Jayakar, Director of Neurogenetics/Metabolic Program and the Undiagnosed Disease Clinic at Nicklaus Children’s. Through the clinic, Dr. Jayakar contacted experts in Netherlands and was able to arrange for a sample of Patrick’s blood to be tested by one of only a small handful of labs worldwide that offer a test for confirmatory diagnosis of ALD through a blood sample.
The happy news is that ALD was ruled out for Patrick. That has spared the family many stressful years of medical monitoring.
“I feel very fortunate to have been referred to Dr. Jayakar and have been able to take advantage of the latest testing offerings to rule out ALD,” said Maria. “This has really given our family peace of mind.”