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So you've inherited a gene that is causative of ALS. Does this mean you will certainly develop ALS?

There are various known mutations that are causative of ALS. Some of these mutations are dominant and some recessive. The mutation present in Tucker's family occurs within the superoxide dismutase 1 gene, otherwise referred to as SOD1. There are various known variants of the SOD1 mutation occurring and different variants are referred to as having complete or incomplete penetrance.

 

The SOD1 variant Tucker inherited from his father, who had fALS, is the L144f variant. This variant is currently known to have complete penetrance. This means that, during an average lifespan, Tucker will develop ALS. The average age of development for this variant is 49 years old, meaning there is a 50% chance Tucker will develop ALS by age 49. It is possible that Tucker develops ALS before becoming 49 years old and it is possible that he develops ALS after age 49. As age increases beyond age 49, the likelihood of disease development continues to increase.

So you've inherited a gene that is causative of ALS. Does this mean you will certainly develop ALS?
Are there any promising treatments or cures being developed?

Are there any promising treatments or cures being developed?

The short answer: Yes, there is. Below Tucker will explain why.

Biogen is currently conducting the Phase III trial of the antisense oligonucleotide BIIB067 (referred to as Tofersen) that was developed and licensed by IONIS Pharmaceuticals. While the Phase I/II trials are meant to measure the safety and tolerability of the treatment, the Phase I/II trials can provide a sense of the treatment's efficacy (how effective it is). At the conclusion of the Phase I/II trials, Biogen stated "The Secondary outcome was the change from baseline in cerebrospinal fluid (CSF) SOD1 protein concentration. Treatment with Tofersen 100 mg (n=10) over a 3-month period resulted in a 36 percent reduction of SOD1 concentration compared to 3 percent in the placebo group (n=12)". The complete publication of this study can be seen here: Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

Tucker is currently eagerly waiting for the conclusion of the Phase III trial and the publication of its results.

Now that you know you have the SOD1 gene mutation that causes ALS, and if it does, how has that affected relationships or how you approach relationships?

Approaching and navigating romantic relationships since receiving my genetic testing results is a topic that I admittedly struggled with for quite some time and previously sought out the advice of others for. More specifically, the question of “When is the appropriate time to share my genetic information?”.

 

As a single man that desires to have a wife and children someday, I would describe my dating approach as “dating with a purpose” as opposed to the more casual dating that is common for people in their early to mid-20s. As such, I do think it is my responsibility to be forthright about my genetic testing results and explaining the implications those results may have. That said, I think there is a fine line to walk between not oversharing too early while also not coming across as withholding information that may be considered a dealbreaker to some women.

Now that you know you have the SOD1 gene mutation that causes ALS, and if it does, how has that affected relationships or how you approach relationships?

Knowing you have a gene that is causative of ALS, has your unique situation influenced your career choices?

Yes, I would say they have. Immediately after receiving my genetic testing results, I said to myself “Well, it looks like I’ll have to accomplish my career goals at a faster pace”. Furthermore, after an employment change in early 2019, I took it as an opportunity to try living in other states. So I packed up with my cocker spaniel Lady and I moved us to Dallas, Texas followed by Chicago, Illinois.

Ultimately, I did not want to wake up someday with ALS and say to myself “I wish I would have taken more risks”. After going through those experiences, I've better realized what matters most in life is family and friends. Which is why I recently purchased a house in my hometown of Fort Wayne, Indiana.

Knowing you have a gene that is causative of ALS, has your unique situation influenced your career choices?
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