The ALS Association

A Very Personal Look into Familial ALS

Jessica S. Stoystown, Pennsylvania

A very personal look into the face of Familial ALS. ALS Awareness - Day 14......Familial ALS sucks on a whole new level. 90% of ALS is sporadic, then there is the 10% who are unlucky enough to have one of the many gene mutations that cause ALS. My dad donated a blood sample before he died. This sample was tested by the NIH (National Institute of Health), and they finally found the exact gene mutation that cause my dad and his sister's ALS...it's commonly known as the C9orf gene (read more here.... http://ghr.nlm.nih.gov/gene/C9orf72). My dad also developed the FTD or frontotemporal dementia toward the end of his battle with ALS. What does this mean for someone like me who is the biological child of someone with this gene? It means I may also carry the gene...the scariest thing I have read...."If a parent carries one copy of the disease gene, there is a 50-50 chance of passing along that disease gene to any one child. If the disease gene is dominant, the child will develop the disease (since only one copy is needed)." The words "the child WILL develop the disease" scares me to no end and has kept me up at night more than once. Having a parent die from ALS is horrible, losing that parent and knowing you could have that same ticking time bomb inside of you can be absolutely paralyzing. I live with fear. Fear that every time I have a muscle cramp, trip while walking, have a muscle twitch....it's ALS. Things that most people wouldnt think twice about can send me into a tail spin of fear. The thought that I could pass that gene on to any of my children is absolute torture. The cruelness of ALS knows no bounds. It doesn't end after the person passes, for those of us unlucky enough to deal with Familial ALS, it creeps into your life and hits you...the worst part? There is NOTHING you can do. No drug regimen, no treatment, NOTHING. So when I say I HATE ALS. I mean it. I hate this invisible killer that has taken so many loved ones, friends, and amazing people from me and others, and now causes such fear in my soul on a daily basis. ALS SUCKS!!!!!!!!!

 
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