Walking In My Shoes: Living WITH FALS ( Episode 5 )

Come and embark on an emotional journey for answers. In this six-part series. You will read about the struggles that many PALS face in the pursuit of a diagnosis. ( Episode 5 )

Blog Post 5: From Bad To Worse ATXN2

As time passed, I was able to find more resources and support. I signed up for a great online doctor service called Synapticure. My nurse Michelle and I have become great friend's. They asked me if I would like to meet with their genetic counselor. I said sure, I wouldn’t mind meeting with them. My first meeting was close to the end of 2022. Brooke was very nice and asked if I had ever been tested for my genetics. I had never been checked, so we started the process of ordering a kit for me to get the test done. The kit came weeks later, and my wife helped me collect the sample. She mailed out the test for me.

In January of 2023, my world was changed once again because of ALS. Brooke emailed me about making an appointment. We met within that week and discussed the results. She told me that the test had found something in my genes. This is where I went from being a PALS to becoming a FALS. Brooke explained to me about the test and the gene it found called ATXN2. At the time, I didn’t know how bad having this gene meant. It turns out to be one of the worst genes to have. It can give its carrier more than half of the neurological diseases. I was blown away by the second life-changing news.

I had to try to understand all of this. It was all new to me, and it was hard to understand how I got the gene. Telling a teenager that his father is going to die is one of the hardest things to do. Now, years later, telling him that there is a 50/50 chance he could get FALS is even worse. Telling my son, who was 23 at the time, that because of his dad, he could have a horrible life and die too—this broke my relationship with my son even more.

Now came the task of how to tell my mother’s side of the family what we carry. Brooke helped me out with this by writing me a letter, which I posted on Facebook to inform my family.

Understanding and living now as a FALS is not easy. Not even a PALS can understand how much different it is. The stress of being a carrier is unbearable, knowing that I could pass this on to my children. I come from a long history of Alzheimer's in my family, not knowing that the ATXN2 gene was to blame for it. I lost five out of six uncles on my mother’s side of the family to Alzheimer's. I lost my grandmother to Huntington’s Disease (HD). Our oldest cousin also passed away from Huntington’s Disease. I have a cousin who has both Parkinson's and MS together. She was the reason I wanted the test done.

Every disease I mentioned comes from the ATXN2 gene. After finding this gene, Synapticure offered my family the opportunity to get tested free of charge. Not one of them wants to know if they are a carrier of ATXN2. My son refused to get tested for ATXN2. I spoke with my wife about our daughter and the possibility of getting her tested. My wife said no, that she was too young to get the test done. So, I will die without knowing if my children are safe from this hell. This is something no parent should go through.

( Final Episode Will Post Next Sunday )