Journey to Diagnosis

My name is Darcy and this is my story of “Life with Ataxia,” and my journey to diagnosis.

The Beginning of My Journey to Diagnosis

I was born July 26th 1992 and I was considered a developmentally delay child. I was late to walk, talk, and use motor skills. I started school in the special education programs. I was a transfer student throughout my schooling up until about 7th or 8th grade. I would move around to different schools in different areas while I lived in another district or area. I was in a variety of special education programs such as speech and language support, then later the autistic support,  learning support and emotional support.

The Start of Symptoms

I started having strange symptoms around age 9 or 10 years old. Initially, it started as occasional “dizzy spells” that would happen about twice a year but as time went on the dizziness became worse and more frequent. I then started having additional symptoms where I would become nauseous and throw up. Vomiting and vertigo became severe at times where I couldn’t stop throwing up. It would interfere with my schooling and daily activities. I also would have blurry, double vision and my eye muscles would feel like they would tighten. People would tell me that my eyes would do strange things like pupils dilating and eyes crossing. I would frequently get headaches.

Diagram of Ataxi types and where in the brain ataxia originates. You can click the image to enlarge the image.
Ataxia Diagram of the brain and types of ataxias

These symptoms would happen in “episodes” and last several hours at a time. I started having issues with my balance and feel uncoordinated, at times and I had difficulty walking in severe cases. The nurse at school would frequently have to get a wheelchair for me to take me where I needed to go, such as the bus at the end of the day. It was convenient because my mother drove a bus to my school at the time. This happened in high school. Despite all this, I participated in chorus, school musicals and fall play as well as went on chorus trips to New York City and Chicago.

Diagnostic Tests as a Kid

Growing up I was quite often going to doctor, doctor to doctor. I had tests done after tests, with several MRI’s,  EEG’s, EKG’s , blood work to try to figure out what was wrong with me. Unfortunately, they found “nothing “. My blood sugar was checked, my heart was checked, I was checked for seizures but nothing showed. Even my MRI’s were considered normal. I even went to the psychiatrist. The only test that showed positive was a tilt table test I had done at the Cleveland Clinic Ohio Cardiac Center. I had occasional “fainting” spells growing up but fainting never became a huge problem. It wouldn’t happen frequently. I was then diagnosed with pre-syncope condition and was placed on blood pressure medication, which I’m not currently taking. 

My family then was investigating inheritable ataxia that has been in my family for generations. Many of my family members had the same symptoms. The only difference between my situation and theirs was that they had an abnormal MRI that showed Cerebellar Atrophy among additional symptoms in between episodes like issues with balance. I was then seeing an eye doctor and he told me to come in during one of my bad episodes, so I did.

Episodic ataxia, an autosomal diaminantly-inherited disease affecting the cerebellum. 

Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p13

Affected individuals are normal between attacks but become ataxia under stressful situations
Episodic Ataxia Disease

I arrived and threw up in the parking lot. The eye doctor checked my eyes and said “this is neurological” and  suggested I go into the Emergency Room so I did with my mother. At the hospital we got in contact with a great Neurologist in Pittsburgh Pennsylvania USA. The same doctor that diagnosed my other family members. I was then diagnosed with a rare neurological degenerative condition called Episodic Ataxia type II in 2009 at age 17. I never understood to this day, why tests didn’t show, but the doctor went by the symptoms and family history to diagnose. I was prescribed this medication often used to treat Episodic Ataxia symptoms called Acetazolamide and it has done wonders on me. The medication helped my debilitating symptoms of the disease. 

So how could tests not show I had this? Why does the medication used to treat it help??

Author, Darcy

I don’t have Cerebellum Atrophy according to my MRI. I may never know the answers to these questions. Despite all the challenges in living with Ataxia. I have a lot to be grateful for.

I was diagnosed with a rare neurological condition called Episodic Ataxia type II, when I was 17 in 2009. It took a long time to get the diagnosis because doctors ran tests after tests and “nothing “ showed. I was then just diagnosed based on my symptoms & family history of Ataxia. I was put on Diamox often used to help the debilitating symptoms of EA II and it had helped me. It has decreased the severity and frequency of the episodes, and most of the time I’m episode free. So I still wonder to this day why all the tests didn’t show that I have this? My MRI’s were considered normal, but still have the symptoms of EA II on top of the medication most often used to treat it helps. 

Symptoms I have Experienced from Ataxia 

  • Severe unbalanced or Uncoordinated
  • Severe Vertigo Or dizziness
  • Cognitive Problems
  • (being unable to function during an episode)
  • Nystagmus
  • (jerky unusual eye movements)
  • Nausea & Vomiting
  • (can be severe)
  • Difficulty Walking
  • (in severe cases, the need for a wheelchair during an episode)
  • Shaking or Tremors
  • Hot Flashes
  • (at times of literally turning red with low-grade fever during an episode)
  • Slow Motor Skills, being unable to keep up with others in a fast-paced environment
Graph of Episodic ataxia type II genes
Graphic of genes associated with Episodic Ataxia
(click or tap to enlarge)

We would like to thank Darcy for sharing this inspirational story with us. If you’d like to know more about her, be sure to follow her on Twitter and YouTube as Ataxia Awareness.

If you would also like to get involve and share your experience with Ataxia or other rare condition, please get into contact with us through our social media.


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