Recent discussions regarding genetic testing have brought me to realize a couple of things about myself. Which in turn led me to contemplate how others may deal with the same eventual realization. This in fact has to do with self advocacy and not allowing the healthcare community dictate your path.
Allow me to elaborate. Having been in patient care my entire military career, I have a very healthy respect for those in the field. This includes the nurses, allied health professionals and of course the physicians. So when I was first diagnosed, the trauma of such a gut punch led me to relinquish my condition to the professionals. They know what’s best, right? Let me clarify that this is not meant to disparage the dedicated healthcare professionals; this is a personal realization.
Initially I digested all the ALS information thrown at me, it was a reflection of everything I was being told, so why question it. Through interactions with others living with ALS, I have come to learn there are many gaps in ALS care. This is to be expected, primarily due to the conservative number of persons diagnosed and treated. But this is changing as persons living with ALS and their families become more vocal and are empowered by organizations such as I Am ALS.
But what does this have to do with genetics, you ask?
I, for example, didn’t believe I needed to do this, I have no family history of ALS. Again, my interactions with advocates, researchers and those living with ALS educated me on the importance of genetic testing. I know this is a very sensitive subject for those afflicted with Familial ALS, positive gene mutations and newly diagnosed persons. The first thing out of my son’s mouth, when we told him of my ALS, was “is it hereditary?” I understand the apprehension of both, knowing or not knowing.
I am as random or sporadic as they come, given current known mutations. In a recent webinar I also learned the value of repeat testing, new gene mutations are being identified; so six months from now you may test positive for the newest discovered mutation. I know it is an extremely personal and difficult choice to be tested, especially if you have a family history of ALS. So I will simply appeal to you as such.
Genetics hold the power to unlock not only ALS, but many other related conditions. You hold the key within you. I encourage you to consider genetic testing if diagnosed, with or without a history. As a family member with Familial ALS, you have an unenviable and extremely difficult path on either side of this conversation.
The take away is this…
Be your own advocate, don’t assume the professionals are current on all matters ALS and lastly, do not underestimate the value you bring to research, the conversation and the ALS community. I for one continue learning and evolving as a person living with ALS.
So true. There was no history of ALS in my husbands family. The doc said it was a sporadic case, not to worry since there was no family history. We got his genetic testing done later as part of a study. Turns out he does have a genetic mutation, SOD1. An extremely rare type that has only found in one other person, so far. Now our kids have a 50% chance of having the same gene. They have chosen not to be tested as of right now, and maybe never since they’ve chosen not to have biological children. Another devastating blow to our family. I am watching my husband die and live in terror that the same will happen to one or both of my kids. I HATE ALS.