ALS Educational Symposium

IF YOU ONLY READ ONE...READ ME-IT'LL BE WORTH IT!

With this disease, there is so much searching you can do on the internet, which of course we have done. But we learned of this Georgia Educational Symposium, put on yearly by the ALS Association, and decided that although it was more than an hour away and all day on a Saturday, it would be worth it to learn and help with our acceptance of everything. Symposium-I joked that there better be clowns and balloons there (there wasn't). It was hard to attend. There were booths that I simply did not want to stop at yet (transportation, breathing machines, talking machines...to name a few). We came home with folders of information to store away until the time comes.

We were surrounded by people all in our same situation and at different stages of the disease. Also, we shared stories with other pALS (person with ALS) and exchanged phone numbers with one family that lives 15 minutes away. It was a good thing for us to see and also taught us more about the disease and the fact that it presents in so many different ways. Jason's disease presented traditionally, but one lady went a full year before ever being diagnosed. I cannot imagine not knowing what is "wrong" for a full year. And everyone seems to present slightly differently, some effecting lungs before extremity movement, some caught by accident, some only effecting upper OR lower, but not both.

There was a doctor session where you can ask a doctor panel questions. We learned that the reason there isn't a good treatment is because all the different forms of ALS are grouped together, instead of treated separately. For example, cancers are all treated completely different. 15 breast cancer patients may have 15 different treatment plans according to the expression of proteins and look of their cancer (as an oncology nurse, there are more than 30 treatment plans-I kid you not!). Then there are treatment plans for colon cancer, lung cancer, renal cancer, skin cancer (you get my point!) In ALS, no matter spontaneous or familial, no matter how it presents, no matter the degree of progress, no matter what genes, are ALL grouped into the same category. Makes sense why there has been no progress in treatment-no new effective treatment since 1995 when riluzole was FDA approved.

Another key thing we learned is that treating mice in research studies helps a VERY LITTLE percentage of the ALS population. And guess what? They use mice. Bear with me....I'll go back to cancer, because this is what I know! You can give a mouse cancer by inserting cancer cells into the mouse and then see what works. You cannot give a mouse ALS. You can give a mouse a gene and figure out how to treat that. The majority of research has been based on the SOD1 gene discovered back in 1993. However, the SOD1 gene only accounts for about 10-20% of familial ALS cases and 1-2% of sporadic ALS cases (no family history).

These are the numbers...

• There are approximately 5000 new diagnosed ALS patients in a year

• 500 patients will have familial disease (SOD1 gene would be in only 50-100 patients)

• 4500 patients will have sporadic disease (only 45-90 will have the SOD1 gene)

• With these numbers, the SOD1 gene studied since 1993 is only present in 95-190 patients....of 5000 diagnosed yearly. The only FDA approved drug was based off the study of this gene.

devastating, but These are the numbers...

Only recently have any other identified genes/DNA mutations even been looked at. The TDP43 and FUS genes were discovered in 2008, UBQLN2 gene in 2011, and NEK1 gene in 2016 (the doctors seem most excited about this one right now, but it is because they know very little about it and they are hopeful).

But what about the 90% of total ALS patients diagnosed with spontaneous or sporadic disease? Which of course, is what Jason has. There is not an easy way to sequence genes associated, although they are researching it. We cannot drawn 18 tubes of blood as of today and find the one gene Jason has.

Of course, what I mention in the last 2 paragraphs is pretty basic. More info here... or here....

The best phrase I can use to describe the experience is empowering. It empowered us with knowledge and resources.