My One in a Million Girl (Part 2)

I wrote, My One in a Million Girl, back in 2019 to help family, friends, and anyone working with Keelie understand her condition. At the time, she was diagnosed with Cerebellar Hypoplasia. The problem is Cerebellar Hypoplasia is not progressive and we were watching as her tremors that started in her hands in 2018 progressed to her legs in 2020, and now those tremors are much more noticeable.

We went to the University of Michigan for a second opinion. Keelie had her fourth MRI, a second neuropsychological test, and a series of two genetics tests. In July 2023, Keelie’s genetic test came back positive for Spinocerebellar Ataxia type 8. SCA8 is a very rare, slowly progressive, degenerative, genetic condition that affects less than 1/100,000 people. Of those people, most don’t experience symptoms until they’re well into their adult years (typically between the ages of 30-50). As far as what to expect, Keelie is a bit of a “wild card.”

Keelie was adopted, so we don’t have a lot of information from her biological family, but SCA8 can affect people differently, even within the same biological family. I’ve joined a couple Spinocerabellar Ataxia support groups on social media to learn everything I can from the people dealing with this condition first-hand.

People with SCA8 can have the following symptoms:

• Trouble with balance and coordination
• muscle spasticity/tremors
• Slow/slurred speech: Dysarthria
• Uncoordinated walking
• Trouble processing and remembering information
• Dysphagia: difficulty swallowing
• Nystagmus: Involuntary eye movements
• Cerebellar degeneration

There is currently no known cure or specific treatments to delay or halt the progression of SCA8, but physical therapy, occupational therapy, and speech therapy can help manage the symptoms. Keelie is going to Physical Therapy two times a week and started doing yoga and mindfulness techniques with a good friend of mine.

Needless to say, Keelie has been dealt a tough hand, but if you know Keelie, she is one of the sweetest, kindest, bravest people I’ve ever encountered in my life. She asked me to write this blog post to help others understand her condition.

Here are 10 things you should know about Keelie:

1. Keelie loves to bake cookies, knit, and sew. She wants to be a pet photographer and work in retail after high school.
2. When talking with Keelie, have patience. Give her a few extra seconds to process and respond.
3. Keelie is smart, smarter than most people give her credit for. She needs extra time, but her answers are typically correct, especially when playing music trivia!
4. Keelie is as authentic as they come. She is unapologetically herself at all times and genuinely one of the sweetest, kindest people I’ve ever met.
5. She is not concerned with being trendy. She’s much too practical for that. She values comfort over fashion and does not judge others based on material things.
6. Keelie just does not judge others in general. I’ve never heard her say anything negative about anyone…ever. (She makes me a better person.)
7. Keelie may seem shy at first, but once she is comfortable around people, she will really open up. Keelie was my most outgoing child when she little. She would say hi to anyone and everyone.
8. Keelie identifies with the LGBTQ+ community as both PAN and A-Sexual. In her words, Keelie “loves people for who they are on the inside, not on the outside and is not interested in sexual activities.”
9. Keelie can NEVER drink alcohol or use anything that affects your cerebellum. One drink for Keelie would have the same effect as five shots for the normal first-timer. Beyond that, it could increase the speed of the SCA8 progression. We’ve told her that she is allergic to alcohol to help her avoid it in the future.
10. Spinocerebellar Ataxia type 8 is a thief that slowly takes away one’s abilities. Things she was looking forward to doing, like driving, she can’t do because her response time is not fast enough. Things Keelie used to be able to do, like skiing (both water and downhill), wakeboarding, and riding a bike, are becoming increasingly difficult or she can no longer do them. She knows her body well and will let you know what she is and is not comfortable with doing. Believe her.

While there is no cure and no fixing this, we are going to do our best to live in the moment, stay positive, and have as much fun as we can.

If you can choose to be anything, choose to be KIND, like Keelie!

This blog post has been approved by Keelie.

For more information on SCA8, click on this link: https://www.ncbi.nlm.nih.gov/sites/books/NBK1268/