What would you say if I asked you if you wanted to be part of a super elite club? Sounds pretty cool, huh? What if I told you there absolutely no charge to join? Sounding pretty good, right? How about I sweeten the deal and tell you that you would be one of 150,000 members in the United States, impressive right? Let’s move on to the perks of this exclusive club. The main perk of this club is that you get to retain full mental capacity. You will be the same person, with the same personality, the same intelligence, and the same memories.
Oh, you have a question? Ask away? “Did you just say I ‘get’ to retain my mental capacity? What the hell does that mean?” That’s a great question! While you get to retain your mental capacity, your body will slowly start to fail you. You have another question? Feel free to ask any questions as we go along? “Why the hell would I want to be part of this club?” Fair question.
In all honesty, there is no way in hell you would ever volunteer to be in a club like this. I was just trying to make it sound really cool. But, now that I have your attention, you do want to know more don’t you? What is the club that I am talking about? The club I am talking about is the club that about 150,000 American are in because they all have one thing in common and that one thing is that they all have spinocerebellar ataxia or SCA for short. Actually, they have two things in common. The first is that they all have SCA and the second thing they have in common is they would have never EVER chosen to be in the exclusive club if given the choice.
Before we go too far it’s probably good to have some idea of what SCA is. According to all-knowing Wikipedia, SCA is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination. SCA is hereditary, progressive, and degenerative and there are 29 different gene mutations of SCA and each mutation can have significantly different symptoms. There is currently no cure for SCA and little research is going on in the area because of the relatively small number of individuals affected. There is currently one larger clinical trial being conducted by BioHaven in New Haven, Connecticut but the trials did not see a significant difference between individuals receiving the drug and those receiving the placebo. You can read more about the trial here.
Until a couple of years ago I had no idea, like most of America, what SCA was. It swooped into our family slowly and quickly all at the same time. My dad was having some medical issues and was having trouble getting answers. He went through a back surgery that was supposed to solve some issues and the issues never fully resolved sending him and my mom on a whirlwind tour of various doctors and specialist throughout northwestern Pennsylvania and northeast Ohio. After several years and many doctors, the diagnoses of SCA appeared and the education of what it was and what it meant for our family began. I am not going to go into the details about my dad’s condition here because that is his story to tell (although he is welcome as a guest blogger ANYTIME…hint, hint…). He lives it every day and I can’t even begin to imagine what that is like, so I will leave it up to him to share. I just want to share my perspective as someone who loves someone who has SCA, and someone who may be genetically predisposed to SCA.
The two things that I struggle with the most are 1) that I live 1,500 miles away from my parents and I can’t help out and be as much of as a support that I want to be and 2) what does my future look like if I have SCA.
The guilt of not being close to my parents is the worst for me. I want to be there to help my dad and I want to be there to support my mom who is doing a kick-ass job helping my dad. But, there is the reality that moving back isn’t a reality for me either. While being there to help would be great, being unemployed would be completely unhelpful and there aren’t a ton of opportunities where they live. Also, I think moving back to my hometown that I left at 18 would probably spiral me into a deep depression…also, unhelpful. I know that so many people deal with this when they move away from their hometowns or their parents move during retirement and there is never a good answer or solution, but it’s just always hard. Luckily, we live to a major airport that can get me to Pennsylvania in a couple of hours and so when I’m needed I can be there as soon as possible and I will work on being there as much as I can.
Tackling #2 would mean doing some genetic testing. According to Ataxia.org children of someone who has SCA has a 50% chance of inheriting SCA from an affected parent. My current insurance will do the genetic testing for me if proof of diagnoses in my family can be provided. Genetic testing is always a very personal decision but my better half and I have discussed it and really believe that if there is information out there that you can have about yourself and your future you should arm yourself with as much knowledge as possible. Of course, that’s easier to say right now when it’s a hypothetical, but I definitely do want to know. While there isn’t a cure right now, I don’t have symptoms right now either. But, if necessary, I can be keeping my eyes and ears open for potential studies and trials in the future. Or my chemist better half could move back into pharmaceuticals and get busy finding a cure.
This is just a really short intro to SCA and kind of a warning that there will probably be lots more on this topic in the future as I learn more and have more experiences.
Interested in learning more? Visit Ataxia.org