News about My Disability

In the link below is an article about a minor breakthrough in research about my kind of disease known as Spinal Muscular Atrophy Type II.

I want to give a little context about this article… I have SMA Type II and this study was with SMA Type I. The type I patients exhibit extremely weak muscles at birth and rarely reach their first birthday. It is basically an extremely severe version of what I have. Both types of SMA are caused by a problem with something called the SMN1 gene. The treatment described in this article is called gene therapy. Basically they give you a virus that is designed to insert a repaired version of the gene into your system. It basically infects you with a cure. They tested nine patients. Three of them got a low dose. Six of them got a midsized does. This was mostly just to test that the treatment was safe and did no harm. It wasn’t really to determine how effective the treatment was. However the results showed that the three patients that got the low dose did show some muscle improvement on a standardized test of infant muscle capability and that the six who got the midsized dose showed even more improvement. And none of them died nor did any of them have to go on a ventilator. Basically it’s an extremely preliminary indication that it worked. So the good news is that he may have found some extremely preliminary indications that this treatment can cure my disease. That’s the good news. The bad news is this is working on people who are basically newborns. In someone like me who have had the disease for 60 years, it’s done a crap load of damage to my body so the best I can hope for is that if the treatment ever became available down the road for Type II patients like me, the best I would hope for would be I wouldn’t get any worse. I’ve known for a long time that if they did come up with a treatment, that would be the case. Still it’s good news.

New Gene Therapy Results Announced at World Muscle Congress.

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