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Joining the Spinocerebellar Ataxia Club

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.

 

Spinocerebellar-AtaxiaBefore 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.

 

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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

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I’ve Lost That Loving Feeling…Or Really Just Any Feeling in My Foot

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I am a career counselor at a community college and I feel like I have been going non-stop since the middle of August.  To say this semester has been busy would be a complete understatement – this semester has been completely insane.  I have no idea what has made it different than any other semester but it has been shear madness!  Today is my first day of fall break and tomorrow we leave for Las Vegas – I am beyond excited!  I need a break from work and life more than anything right now.  Of course, things can’t be that easy, you can’t get a few days away without first paying the price.  Paterno Dog was sick all weekend with stomach issues and had to be switched to a rice diet to get his tummy back on track and late last night I found a weird bump on Coaly Dog’s ear that needs vet attention before we can drop her off at Camp Bow Wow first thing tomorrow morning before heading to the airport.  The joys of being a dog parent!  But, I am trying to be optimistic and get through the day by repeating “In-n-Out Burger…In-n-Out Burger…In-n-Out Burger” over and over again and dreaming about a Neapolitan milkshake and a margarita (or daiquiri – I’m not picky) the size of my head.

So, this little mini rant wasn’t even the purpose of why I was writing today.  I was going to give you an update on my foot which has been injured since we got back from Peru in June.  In September I first told you about my foot and told you about being diagnosed with metatarsalgia and what I had deemed were the suspects of how I had got metatarsalgia (hiking, running in Newton’s, etc.).  Since then my toes on my right foot have still been numb and nothing really has seemed to help them.  After going to the ortho doctor in August I drastically cut back my running as per their request but, I was still half-heartedly training for the Lake Powell Half Marathon.  I actually wasn’t sure if I was going to be able to run the half in the middle of October, but I wasn’t feeling any pain when I was running – just the constant numbness, so I was tentatively planning on running it or at the very least walking it.  After loosely following the doctors’ orders for a couple of weeks without any feeling returning to my foot I followed-up asking about next steps.  The ortho doctor made two suggestions: one was to get an EMG to make sure there wasn’t any nerve damage we were dealing with and two was to schedule a second opinion with a foot and ankle surgeon.  Both seemed liked solid plans so I got both appointments scheduled and was ready for my next plan of attack to figure out what was going on with my foot.

 

22549726_10212105313560597_8252096818915267053_nIn early October I went to the neurologist for the EMG.  I was extremely nervous for the EMG because I had never been to a neurologist and have never had any testing like this before.  It was actually pretty interesting, but I have to be honest, it was not the most pleasant experience I have ever had.  First, the doctor stuck probes to my legs and sent different levels of currents through my leg and foot in different areas to see how the nerves reacted.  Some were pretty light while other currents were very strong and would lift my leg right off the table.  After that test, she then inserted a needle into the muscle in the back of my lower leg and conducted some more current tests, these were my least favorite and kind of made me want to throw up.  After about 45 minutes of testing, we were done and the tests showed absolutely nothing, my nerves were all behaving normally.  It was at this time that the doctor mentioned that the EMG wasn’t really good at diagnosing nerve issues in the foot.  (This would have been good information at the beginning of the test).  But, at least we were able to rule out any bigger issues.

 

After ticking off nerve issues from the list it was back for the second opinion with the foot and ankle surgeon.  I was already a little nervous because surgeon was in his title instead of just doctor and soon after meeting him he did let me know that he did prefer to fix problems through surgery, which was slightly concerning.  He looked over my foot, my x-rays, my nerve conduction study and once again diagnosed with atypical metatarsalgia.  Meaning I really only have one symptom of metatarsalgia, the numb toes, and no real pain.  He immediately started talking about how he felt that my issues stemmed from my tight Achilles and he could solve all my problems my simply cutting open the back of my lower leg, elongating my Achilles and stitching me back up.  This would only take me out of commission for about 4-6 months and it wasn’t a guaranteed fix for my problem of numb toes.  I let him know, very firmly, that surgery would be my absolute last resort.  Mostly because there was absolutely no guarantee that the surgery would improve the numbness in my foot because my symptoms did not clearly match those of metatarsalgia.  I like to gamble, but not when it comes to cutting into my own flesh.  So, we compromised.  He gave me a cortisone/steroid shot to see if that would give me any relief from the numbness and put me on a new stretching regimen.  After the steroid/cortisone shot I got no relief.  My toes were still numb and absolutely nothing had changed.  As you can imagine my frustration and desperation level was continuing to grow.

 

22555212_10212105312640574_8935000541392214211_nWhile all this was going on we were getting closer and closer to the Lake Powell Half Marathon and before I knew it, it was the middle of October and time to pack up the car and head to beautiful Page, Arizona.  I decided, probably against my better judgment, to run the half marathon.  In all fairness, I had asked the doctor about it and while he didn’t seem thrilled about the idea he did say that it probably wouldn’t hurt my foot any more.  So, on October 21st I successfully ran the Lake Powell Half Marathon.  It wasn’t my fastest time, but it wasn’t my slowest, and I ran the majority of it and it felt amazing to be running in such a beautiful place.  I think I really took in the experience because I knew that after this half I would be hanging up my running shoes for a while and really be focusing on recovering and so it was just a great experience.   Yes, I had pain (by the end it kind of felt like someone was stabbing me on the bottom of the foot), and yes, my toes did feel number (if that was even possible), but I was proud of myself for overcoming adversity and achieving a goal I had set for myself.

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Okay, back to reality…the race is over, the glow of success has faded and my foot is still freaking numb.  The cortisone/steroid shot hadn’t worked AT ALL and I am feeling pretty frustrated and hopeless.  So, I reach back out to the foot and ankle surgeon to talk about next steps.  As I suspected (and was avoiding), the next step was to completely rest my foot.  My doctor wanted to put me in an old-school plaster cast (the one where you can’t shower, or drive, or function).  I asked if a removable walking cast could be as effective and he was agreeable.  The main reason for my request was 1) I have to drive work and 2) I already had a walking cast (for my right foot) from when I was battling from plantar fasciitis (oh the good ‘ol day when my biggest problem was plantar fasciitis).  The main purpose of the cast was to rest the foot and NOT TO RUN!  We decided to start with two weeks and see where we were after that.  Two weeks came and went and I got absolutely no relief from the cast.

 

I’m really not sure where to go from here.  The fact that none of the suggestions from the doctors have helped at all and the fact that my symptoms don’t really line up with metatarsalgia makes it really difficult for me to even start considering surgery.  But, the doctors don’t have many more suggestions except surgery.   I am not a believer in alternative medicine (my better half is even less of a believer) but I am frustrated that I am willing to try anything.  Even when that anything is something like going to a chiropractor because I have read some articles where it was helped people with similar situations.  I’m not a person who doesn’t believe in modern medicine, I believe, and respect, doctors and medicine, but I have had a really bad bout of care and advice regarding both my foot and my sinuses lately so I have become a little jaded and skeptical.  Add to that the fact that running has always been what centers me and makes me sane and I haven’t been running in over a month, so my decision-making abilities are at an all-time low.

 

I wish I was writing to tie the saga of my foot up in a neat little bow, but here I am six months later without any answers or solutions…but still a very numb foot!  So, this is just more of an update and if anyone out there has any suggestions or ideas I am all ears. 

Liar, Liar, Pants on Fire

00000-liarIn my last blog post (remember the one WEEKS ago when I said I would write more), I wrote “if you have time to complain about being too busy, you obviously have some free time.”  Apparently writing this simple little sentence made someone, somewhere, very angry and they decided to put me in my place.  I’ll start by admitting this one of the busiest times at work.  A new semester means wrapping up an old one and starting a new, all at the same time.  It means freaked out student who need career guidance NOW.  And it means that there is so much energy and excitement that you can get caught up in which may cause you to over extend a little.  Over the past week, I have gone in early, stayed late, and worked weekends.  I worked almost 60 last week and my endless to do list just keeps growing and growing.

I haven’t gone for a run, strength trained, or been to the gym in over a week.  I haven’t felt like cooking (this isn’t much of a surprise), going out after work, or even turning on my computer to even look at other people’s blogs in the evening.  I have become a couch potato who binge watches old ABC Family shows on Freeform and goes to bed before it gets completely dark outside.  Then, the next day I am up when the sun starts rising and I start the same routine all over again.

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In just under 9 weeks I have my third half marathon in Lake Powell.  I am woefully unprepared.  I know I need to train.  I spend time each week updating my training plan, erasing the previous week when I only finished maybe one training session.  As I plan out my new training plan I tell myself that Monday I will start and nothing is going to stop me from my plan.  I will get up early and run or workout before work.  I know it’s going to feel good, that it’s going to set the stage for the rest of the day, but when the alarm goes off I tell myself that the plan can wait another day, I’ll start tomorrow – today I will just enjoy another 25 minutes of sleep and then I’ll go in to work early.

When I sat down to write this I thought I was going to prove to myself that you can be too busy, you can complain about it, and you can prove you don’t have any time for anything else.  But, instead I just feel like a whiney twit who, if they can write this post, obviously has a little free time.  So, no more excuses.  No more do overs.  No more waiting until Monday to start again.  The writing will get more regular because I realized I have a lot to share.  I haven’t even started to tell you all about our amazing trip to Peru!   So, I leave you with a picture from a Peru and a promise to fill you in on the details of our trip.IMG_5987