eSCAping Type 1

Last week I had asked for anonymous questions about Ataxia from my blog readers in hope of fueling awareness and understanding for #IAAD22… and y’all did not disappoint!

Hopefully, my honest answers don’t either.

How close do you think they are to finding a cure / rapid slowing of symptoms in the next decade or so?

Ready for the most perfect answer ever? Soon! (Ha, that’s literally what they’ve been telling us for YEARS.)

Really though, the NAF just launched an Ataxia Treatment Pipeline – “a visual look at drug development progress” – and I’m really excited about it. I’ve included the SCA1 graphic below (yay, Biohaven!!), but I strongly encourage visiting that link to see other timelines/learn about the requirements of each step/read specific trial details/etc.

 

I was diagnosed 2.5 yrs ago with SCA3 – Familial Cerebral Ataxia. Since that time things have progressed and I feel I am losing my way of life. The ability to go to the store, or anywhere for that matter, takes so much consideration. I have put in for a visit to a Mental Health office through my insurance but it’s 3 to 4 months out. I need help. Any suggestions you could give would be appreciated. Thank you so much!!!

I am so glad you asked that because I know there are a ton of people out there thinking the same exact thing! First of all, you ARE losing the ability to do a lot of things you were once able to do – change is scary; you’re allowed to be upset. But life can still be fun, just in different ways. This post (*Helpful Posts*) provides links for both “physical” activity suggestions and mental help!!!

 

How can I know what type of ataxia I have? I mean, what are the differences between ataxias? I’ve been diagnosed with spinocerebellar ataxia for ten years now and my doctor is now hesitating if I really have ataxia or muscle dystrophy, because my MRI in the brain showed no problems.

Since Spinocerebellar Ataxia is hereditary, knowing family history is extremely helpful. For example, my dad and grandpa both had SCA, so I was able to go right to genetic testing (a simple blood draw) through Athena Diagnostics to confirm and specify my diagnosis of SCA-1.

However, unfortunately, it’s very common to be diagnosed with “Unknown” ataxia. (“Between 15,000 – 20,000 people are estimated to have Spinocerebellar Ataxia in the US. Tens of thousands more are affected by recessive, sporadic, and as yet unknown forms of Ataxia.”)

Below is a brief outline of some different types of Ataxia, but you can find more extensive, individualized information for each type (including MSA) on the NAF Fact Sheets and testing options on their Ataxia Diagnosis page. 

 

How is your novel coming along?

Not Ataxia-related, but I’ll take it since I really love the person who asked. (She told me!) I’m finally done writing and am now querying literary agents. It’s a lot like applying to colleges in that you attempt to narrow it down to a few that fit your needs, and then send them all a whole bunch of stuff, and then wait foreverrrrrrrrrrr to see who wants to read more, and then wait again for them to decide if you’re a good fit…

Harry Potter was rejected 12 times before being published, so I’m doing OK with my three so far.

Read part of chapter one HERE.

 

How do you get over the fear of losing your mobility?

Ugh, I got you. So much so that I’ve written 4 posts about it – one when I got my rollator, two when I got my first wheelchair, and one when I got a motorized one. READ THESE – I swear they’ll help. But, basically, try thinking of it as just a different means of mobility, not a loss. You can still get around, just not in the way that you’re used to. Plus, I honestly feel MORE independent (and safe, and confident…) using an aid vs. when I did not.

 

Can I ask about work for ataxia patients? Because my brain is still working fine, only my body isn’t…

This is difficult for me to answer since I stopped working a few years ago once my symptoms really started to show, and now I’m a Stay-at-Home Mom… Luckily (?) the Covid Pandemic spurred an increase in stay-at-home jobs, which tend to be better for people with physical disabilities. Asking an entire online support group (linked below) would be a great place to start!

 

Are you scared of dying?

Are you??? Sorry, this question has always rubbed me the wrong way because we are all in the exact same boat here – we’re all going to die, but none of us know when.

True, my SCA1 does shorten my lifespan, but that doesn’t guarantee you’ll outlive me… But, when it comes down to it, no, I’m not scared. I’m looking forward to reuniting with diseased friends and family. Plus, this body isn’t exactly a great one to be stuck in.

Am I angry about potentially missing a lot of my son’s milestones? YUP. Am I worried about leaving him motherless? YUP. Am I sad about abandoning the people I love? YUP. Am I upset about not having an active role in their lives? YUP. But am I scared? Nope.

 

Did you try having your son naturally at first?! Can you still have sex? Are you still in control of your bladder and bowels? What is your life expectancy? Sorry if too invasive just genuinely curious <3

Nope – I asked about my ability to have kids wayyyy back at my very first neurologist appointment, so we always knew we wanted to do PGD.

Yup!

Kind of? Having diminishing muscle control really sucks sometimes.

I really don’t know. My dad died from SCA on his 53 birthday. My friend died in her 40s. But there are Ataxians in my support group in their 70s. Google says 10 years from your diagnosis. Soooo???

 

Hey Meg, I also have SCA and these are questions I’ve gotten:

1. What do you miss the most that you used to be able to do?

2. Has the pandemic been a bigger hindrance to you?

3. What assumptions do people generally make that drive you mad?

…In my experience, most people are afraid to ask questions, probably because they don’t want to hear the answers. BUT a few do and I’m always willing to answer them.

1. What I want, when I want. I know that’s a vague answer, but the activity itself really depends on the day. I really don’t miss driving or running… I miss being able to get a glass of water when I’m thirsty, rather than having someone find me a tumbler with a lid and a straw and ice at noon just in case I want it later on. I miss being able to crawl into bed when I’m tired, and plugging my phone in when it needs to be charged, and lighting a candle when my kitchen smells musty. I miss not having to plan and explain EVERYTHING to EVERYONE.

2. The pandemic actually, weirdly, helped me – it was suddenly easy and normal to grocery shop online, and have dinners delivered, and not leave your house. I mean, it sucked that no one ever got to hold my tiny baby buttttt honestly, lockdown didn’t really change MY life.

3. That I’m not doing something because “I just don’t want to.” That I’m lazy. That I could do more if I “just tried.” That me complaining is me being ungrateful.

 

Where can someone with Ataxia go to get support? Thanks!

The NAF has a whole section of their website dedicated to this! You can find in-person, virtual/Facebook, and international support groups HERE. I also recommend searching hashtags on social media (#ataxiaawareness #spooniesisterhood). Connecting with Ataaxians who are MY AGE helped a lot (two words). Everyone should really do the same.

 

What were your onset symptoms? How did you feel emotionally once they started? How quickly did they progress? And how do you stay so positive?!

I had ALWAYS struggled with running. Like, since I was 7. It was just hard getting my legs to move the way I wanted them to – they were so heavy. But when they started to feel that way whenever I jumped or climbed stairs, I figured maybe it was more than poor endurance or sport-induced asthma. Soooo it was around 2011 (when I graduated college and accepted that feeling wasn’t going away) when I secretly diagnosed myself with Ataxia.

I really didn’t know ANYTHING about this disease since we DID NOT talk about it (hence me curring my childhood trauma with a blog), but I knew my dad couldn’t walk, so I probably had what he had??? I really wasn’t upset or scared – I just figured I’d eventually be in a wheelchair. Whatever.

But thennnn, a few years later,  my symptoms started progressing. In 2015 I was officially diagnosed, 2016 I got a cane, 2018 a walker, 2020 a wheelchair… And although my pregnancy did not speed up my progression, my 2022 battle with pneumonia sure did!

So I’m definitely not positive all the time. But I have Ataxia regardless of my feelings on it, so I might as well enjoy life, right? Writing helps, since it forces me to view situations in a new perspective with the goal of helping others. And Leo helps, of course. And Prozac. And weed.