Unsteady Steps: Navigating Life with Ataxia

Spinocerebellar ataxia7

Keep your face always toward the sunshine – and shadows will fall behind you.

Walt Whitman

Look up the definition of Ataxia and most of the time, the definition will be “a neurological condition that affects coordination, balance, and muscle control.”  But the world of ataxia is so much more complex.  Living with ataxia presents unique challenges, but it also showcases the remarkable resilience and determination of those of us that face it every day. 

Genetic Testing: Unveiling the Mysteries of Ataxia

When it comes to understanding ataxia, genetic testing plays a pivotal role in unraveling the mysteries hidden within our DNA.  Ataxia can have various underlying causes, including genetic mutations that affect the functioning of the cerebellum or other parts of the nervous system.  Genetic testing allows individuals and their healthcare providers to delve deeper into their genetic makeup, identifying specific gene mutations or alterations that may be responsible for the development of ataxia. 

By analyzing an individual’s DNA, these tests can provide crucial information about the type of ataxia, its progression, and even potential treatment options.  And this brings me to the reason for my focus on this subject.

SCA 15 or Spinocerebellar Ataxia 15

According to NIH, “Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. SCA15 is caused by genetic changes in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases.”

  • Population Estimate:  Fewer than 1000 people in the U.S. have this disease.

Haha, my parent always told me I was special but wow, that number shows just how unique I really am!  But let me backtrack……………….

I was diagnosed with Ataxia when I was 28.

And at that time, they did not have enough information to give me a specific form.  Remember, sometimes the technology is not yet advanced enough to give a specific diagnosis.  That wasn’t good enough for me as I wanted comprehensive answers.   So, I visited a few other institutions such as Johns Hopkins and Mayo Clinic.  But even after those appointments and further testing, nothing could be determined as to my form.

Fast forward to 2013

After a new genetic test provided by UCLA Medical, the diagnosis is SYNE 1.  This was something new and I was excited to finally have a more definitive answer.  I assumed I would have more opportunities for clinical trials by having a specific form.  Ultimately, I was not able to participate in any trials other than a new medication study.  And as always, just keep pushing forward.

2022 – New Possibilities

I was attending my annual neurology appointment with a new Ataxia specialist, and he had a new insight.  Apparently, the SYNE 1 abnormality from the earlier test is now considered benign.  With that new information, his recommendation was to take a new genetic test.  So, I set up a time to talk with the genetic counselor and arranged a cheek swab test. 

As I waited for the results, I felt excitement and nervousness.  Finally, I received an email telling me the results were in.  Here is a summary of what I received:

We have your genetic testing results (finally!). It does show something interesting; it revealed a deletion in a gene called, which is associated with autosomal dominant spinocerebellar type 15. SCA15 is associated with slowly progressive ataxia with onset from childhood to adulthood. Deletions of this gene have been reported in those with SCA15 in the medical literature, but true haploinsufficiency data (data that missing one copy of the gene causes disease) is not available for this gene.

Conclusion:

Every step taken is a testament to the resilience, determination, and unwavering spirit of our community.  It is crucial to remember that while ataxia may present physical and neurological obstacles, it does not define those of us who live with it.  Genetic testing has emerged as a powerful tool, offering a clearer understanding of the underlying genetic factors that contribute to ataxia.  It has revolutionized the way medical professionals diagnose, manage, and provide targeted treatments.

By raising awareness about ataxia, I want to promote understanding, empathy, and a sense of community.  It is through combined knowledge and support that we can advocate for better resources, treatment options, and advancements in research.


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