SOD1 testing

[Ann]

Hi everyone! My mother is 54 and was diagnosed with ALS last february. Unfortunately, she is progressing really fast. As some of you surely know, the phase 3 of SOD1 trial is on its way. And they are admitting PALS from Russia and Belarus now too! My mom is a Belarusian citizen, and we haven't done genetic tests yet, as we don't know of any relatives who had suffered from the disease. But we also don't know much about our extended family, many of them died years ago, so there still might be a chance. So she wants to do a test. The problem is that she is currently staying in China. The doctors in the lab seem to be not very knowledgeable of the disease so I want to provide them with superexact information of what we need from them. As far as I know there might be lots of variations of SOD1 mutation. Can somebody please provide a detailed description of test? That would really help a lot! Thanks!

 

[Nikki J]

In the West the test is just ordered for SOD1 ALS mutation. The report if positive comes back with the specific variant of which, as you say, there are many. It is a blood test with only one tube required

sod1 accounts for about 20 per cent of FALS and 2 percent of ALS. The most common variant is extremely penetrant so people usually know because their parent, grandparent etc died from it usually before 50. Wild type ( no family history) SOD1 is rare.

 

[Nikki J]

I should add in the US there are only certain labs that do the test . I would imagine the same is true in China. Is she seeing an ALS specialist ? S/he would know

 

[Ann]

Thank you very much for replying, Nikki! I've already done some research, so I know that the chances are highly unlikely. She is seeing specialist back at home in Moscow, but not in China. He gave us the name of the test and that's all. You see, in Russia and Belarus, we don't have ALS clinics, and the doctors in usual hospitals are not actually much aware of the disease. But when you finally get diagnosed, you are pretty much on your own, meaning the government and medical institutions don't provide any support or information, they just send you home to die. The only people who really help here are the charitable fund "Live now", dedicated to the disease. They are super nice people, and very knowledgeable, but very busy, as they have many patients and not so many resources. So most of the information we need we have to find out by ourselves.