Defeating a Rare Disorder: After two of their children died from a mysterious illness, Laurian and John Scott pushed to find the gene that caused it—and brought new hope to dozens of families. by Debra Gordon as originally seen in Neurology Now
First of all, I had never heard of this disorder. It seems to be a rare progressive muscle wasting disease, characterized by respiratory difficulties and facial weakness in the early stages. If you follow the link, first you have the story of the featured family, but down below are specifics of the syndrome. I thought the pathophysiology of the disorder is interesting. The genetic malfunction doesn’t allow for the efficient uptake of vitamin B2, which causes the above symptoms to progress until death within approximately a year of the first symptoms. But the answer is so simple– put more vitamin B2 into the system so there’s a better chance of absorption!
Even though this is more of a medical/genetic issue, since some of its symptoms involve the neuromuscular system, this is a good rare disorder to file away under “just in case” in the back of a therapist’s mind. Remember, we are often times the first people to actually physically touch patients, so we may be the first ones to connect the missing dots.