Michael Conway, a grandfather from Scotland, believes that there should be increased rare disease screening after he was diagnosed with adrenoleukodystrophy (ALD) in 2016. Like many other rare disease patients, he spent years seeing specialists, being misdiagnosed, and receiving no answers. He doesn’t want anybody else to endure the journey to diagnosis that he did, and earlier diagnosis often leads to better outcomes for patients. This is why he believes in a push for more children to be screened at birth for rare conditions.
About Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy is a rare disorder that damages the myelin sheath, which is the protective membrane of neurons. This damage is caused by the buildup of chains of fatty acids, which accumulate in the brain and adrenal gland. Males are mainly affected by this disorder, with an incidence of about one in every 18,000 births. The symptoms of this condition may differ depending on the type of ALD one has. Age of onset varies between these forms, but symptoms commonly begin between age four and ten. Typical effects include ADD, intellectual decline, Addison’s disease, aggressive behavior, a loss of hearing and vision, crossed eyes, muscle spasms, seizures, issues with swallowing, loss of muscle control, disability, and progressive dementia. Another form of ALD sees the onset between age 21 and 35, while the least common form affects females.
This condition is caused by a mutation on the ABCD 1 gene on the X chromosome. This gene results in the accumulation of fatty acid chains, which then causes the damage to neurons. Because this mutated gene is on the X chromosome, males are typically affected while females are carriers.
Michael first noticed his symptoms in 2011, specifically on the night of the royal wedding. On his way to meet friends, he noticed that something was off. His fingers were tingling, and he couldn’t stop scuffling his feet. Before, he had dismissed any issues as clumsiness and a lack of coordination. After this episode, he realized that he needed to see a doctor.
It was this decision that launched him into five years of frustration, misdiagnoses, and numerous doctor’s appointments. At one point, he was told he may have multiple sclerosis (MS). Nearly a year after this incorrect diagnosis, doctors were finally able to correctly name his condition. He was diagnosed with ALD in May of 2016.
With Rare Disease Day being held on February 28, Michael feels that now is the perfect time to increase screening for rare diseases at a young age. He points out that an earlier diagnosis can lead to better treatment outcomes, along with save patients a lot of time, stress, and money.
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