With under 100,000 known cases in the USA, Machado Joseph Disease (MJD) easily fits into the "Orphan Disease" Category, as named by the National Organization of Rare Disorders (200,000 cases). And so, if you know me, congratulations! You know an unexplained, scientific anomoly!
Now for the symptoms: MJD steals your balance, speech and ability to swallow. Pretty much in that order. It also causes double vision, pain in the extremities and frequent urination. Im 32 and walk with a cane. In ten years, it could be a wheelchair and in ten more years, I might be in the ground. If one parent has it and the other doesn't then there's a 50/50 chance of the offsping having it. Kinda like a genetic coin toss. (It came from my Mom who passed away three years ago at age 50.)
It is fatal. There is no cure. And nothing can slow it down. I can only hope to curtail the symptoms with some sort of drug therapy. And that's not very likely either. There's zero money and prestige in fighting an illness that no one knows about.
Onset of the illness varies. Symptoms didn't start to really impair me until I was 30. Although there were days that it was apparent that something was wrong before then. Strikes and Gutters, I guess! I was lucky enough to escape it's debilitating effects during the first part of my life. (I was a three sport athlete in High School.)
Although accepting my limitations is difficult, I'm trying now to live with them. And incorporate the changes it entails into my daily life. I'll let you know how that goes.
- M
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Comments: 2
A disease which has effected quite a few of my extended family. And an unfortunate coincidence that "Friedreich's" is a lot like our family surname.
My grandfather had it. But it only really effected him much later in life. He had ten children and when they said 50/50 chance they weren't joking. 5 of them had it. And effected them a lot earlier in life than their father.
My father didn't have it. So I'm in the clear. But of my cousins from the five aunties and uncles, again you could cut it down the middle when it came to the toss of the coin. And they succumbed to the disease even earlier. Only a few of them have had kids. But one died by the time he was 15. So the disease got quite aggressive with each generation.
It was not easy to forget about or ignore, as one of my cousins who had it (RIP) was like a brother to me (he came to live with my parents before I was born, so he's always been my brother).
Stay strong Matthew. Keep positive. And thank you for writing about it. I hadn't heard about Machado Joseph Disease but now that I have I will find out more about it.