Patient Stories: Michael's Journey to Diagnosis

Michael Conway lives with Adrenoleukodystrophy (ALD) - a neurological condition that affects 1 in 20,000 men in the UK, and like with many other rare disease patients, he spent years seeing specialists, being misdiagnosed, and receiving no answers.

“I started seeing a consultant neurologist and had several MRI scans of my head and neck. I also had lumbar punctures, nerve conduction tests, blood tests and more. My doctor told me on Christmas Eve 2015 that I had multiple sclerosis. I can understand why, as a lot of the symptoms look similar, but neither of us were completely convinced by that diagnosis, so he continued performing tests until May 2016. That’s when he finally diagnosed me with adrenoleukodystrophy.

Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired bodily functions or paralysis.

Earlier diagnosis often leads to better outcomes for patients, which is why Michael believes there should be a push for more children to be screened at birth for rare conditions as he doesn’t want anyone to endure the journey to diagnosis that he did.