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Does this disease have a different name in the UK? Some of my US family are heavily into raising awareness and fundraising, but I must admit I'd never heard of it.
Apparently 1 in 40 people carry the gene, and children born with the severe variant of the condition waste away and die by the age of two or three...
Dunno exactly but it sounds like a type of muscular dystrophy.
Two brothers I went to school with had it. One of them lived to 16, the other was still alive when I lost contact with them; I think he was mid 20s at the time.
Motor neurone disease would be my guess
I had to look it up; the wiki page seems very informative about what appears to be a nasty but thankfully rare problem.
http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
Hmm, this data:
After cystic fibrosis, spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease in Caucasians.[10]
The international incidence of SMA is 7.8-10 cases per 100,000 live births.[1]
Carrier frequencies in the UK are 1 case per 60-80,000 individuals.[1]
SMA type II is the most common form.
From patient.co.uk seems to indicate it's much rarer than the 1 in 40 statistic from the charity pages would suggest...
Although jtsma.org.uk, a UK charity, suggests 1:40 is reasonable, and also says this:
The reported estimates differ from study to study, due to sampling from different countries, and inclusion of different races, but the numbers tend to agree that SMA affects approximately 1 in 6,000-10,000.
It's still called SMA.
One of my 2 1/2 year old twin nephews has it and it's ******* sh*t. [url= http://www.aboutgeorge.co.uk/ ]It would be awesome if you said hello to him here.[/url]
It's properly rare: about 100 people a year are diagnosed with it, apparently, and most of the doctors I know (a lot!) had to look it up.
There are two charities the I know of in the UK. One is the [url= http://www.jtsma.org.uk/ ]Jennifer Trust[/url] and the other is the [url= http://www.smatrust.org/ ]SMA Trust[/url].
WARNING: LONG BORING BIT:
Basically, you need motor neurons to carry signals from the brain to your muscles. These motor neurons need a particular protein to survive and if you have SMA, you don't produce enough of this protein, so the neurons die away and the signal doesn't get through. Obviously, muscles then don't develop and, as a baby grows heavier, they effectively get weaker. Bizarrely, hands etc aren't affected too much, just the bigger muscles - including those in the torso needed to sit up, to cough. Worst case scenario, a baby dies by the age of two. Best case, you're just a bit weak. My nephew will need help with EVERYTHING and basically ends up in hospital every time he has a cough, as he can't clear his chest. Luckily, he's a happy little chappy and there are loads of people around to help him.
I just wish I could take him riding with me. Or swimming. Or even out for a walk.
It's a friend of my wife's that has a three year old daughter with this condition. She can't move or even sit up, needs a load of life support gear, and she's not got long left.
Properly sad.
No SMA is SMA wherever you are in the world. It's recessive disorder and one of the most common in the world, although it does have different prevalence in different parts of the world. Incidence 1:10000
My company has just developed a new prenatal test for it since it's quite tricky to diagnose and we perform PGD for it.
The genetics bit. Carrier status (whether you carry the mutation) of 1:40-1:50 is very different to incidence. Basically you need two carriers (at 1:50 each) to have to produce an affected child and then there is a 1:4 risk for carrier couples of having an affected child. Giving 1:10000 incidence.
I suppose I should have done that particular bit of mathematics 😳
Terrible disease.....