Okay, today's post has nothing to do with DBing, but is just some news I'm very excited about. You see, my H's niece has a genetic condition known as Spinal Muscular Atrophy. It is caused by a recessive gene, and is second only to cystic fibrosis as a cause of death in young children due to recessive genetic diseases. (Fortunately the niece has a milder form and her life expectancy is normal). Many of the kids you see on the Muscular dystrophy telethon have this - but it's not a muscle problem, but a problem with the nerves leading to the muscles - kind of like being born with polio.
Anyway, there is a fabulous woman named Audrey who started an organization called Families of SMA after her son was born with it (he's now a teenager). This volunteer organization answers phone calls from distressed parents who have just been given the diagnosis, distributes information, and lends electric scooters and other vital equipment. They also raise funds for research. More importantly, Audrey has managed to bring together researchers from all over the world to coordinate their research approaches - and holds an annual conference that includes these researchers AND parents.
6 or 7 years ago, we didn't even have the gene identified in this illness. Now not only has the gene been identified, and an animal model developed, but FSMA took the novel approach of hiring a biotech firm to use its high-throughput screening technology to screen 10,000 compounds to look for a drug which might help these children. (It's really not a big enough market for pharmaceutical firms to invest in, even though one in forty of us carries a (single) defective copy of this gene).
Well, two drug candidates have been identified which show great promise of being able to reverse some of this disease, and clinical trials are starting. To think of how far the research in this field has come in just a few short years! And I credit it all to Audrey, who is one of the most dynamic, energetic women I know. Whenever I feel overwhelmed with the details of running my household, I think of her, and how much she has accomplished despite having to care for a disabled son. And I think of how the little things can add up, because this research money was raised through garage sales, bake sales, neighborhood golf tournaments - everybody chipping in.
Just thought I would share this with everybody, because to me, it represents such a triumph of the human soul. If you want to learn more, visit www.fsma.org .
