Darcy Downing – My Life With Ataxia
This week, Darcy Downing shares her story of her EA2 diagnosis and how she’s coping with it.
My name is Darcy Marie. I have a diagnosis of Episodic Ataxia type2. It took me 9 years to receive a diagnosis and yet my diagnosis hasn’t been proven. I still have all the symptoms of what seems like Episodic Ataxia type2. I was diagnosed in 2009 with this condition.
Episodic Ataxia is a rare neurological condition that affects a person’s mobility, coordination, and balance. Some people with it experience seizures, nausea, vomiting, vision problems like double vision. It affects less than 1 in 100,000 people.
Many symptoms come and go in episodes of imbalance, vomiting and feeling sick, vertigo and dizziness, but many eventually develop a secondary progressive Ataxia along with permanent nystagmus which are involuntary eye movements also known as “dancing eyes” eyes that would “beat” when moving them back and forth.
Episodic Ataxia is how your body reacts to stimuli in your environment neurologically. Factors such as stress, exercise, physical activity, heat, caffeine can bring out the symptoms. It started when I was 9 years old and feeling “dizzy”. Then eventually progressed to nausea and vomiting. By that time, I was seeing many doctors and neurologists, as well as having a neurological exam in which I appeared fine.
They kept insisting everything was and looked normal. My exam was normal, my blood work was normal, my cat scan was normal, my MRI’s were normal, EEG normal, and EKG normal. EVERYTHING never gave me any answers. By the time I was going into high school, I’d noticed I’d become uncoordinated, imbalanced, and dizzy, sick pretty much daily. This would last several hours at a time and it became worse and more severe. I couldn’t walk, and the nurse would frequently have to get me a wheelchair. I started developing unusual eye movements such as my eyes crossing, and headaches. My eye muscle would feel as if they’d tighten and people would tell me my pupils would dilate.
I went to Cleveland Clinic between this time and was tested positive for presyncope condition in which my blood pressure would drop and heart rate would abnormally increase upon a tilt table test in Ohio US. Then I was diagnosed with presyncope. I also went to see a psychiatrist, as it was thought that a panic disorder or anxiety was the cause of my symptoms. I was put on meds for both these conditions without success. I then saw an ophthalmologist for the eye problems I was having, like my eyes crossing and seeing double. I went in to see this doctor during a bad episode I was having and he looked into my eyes claiming that it’s definitely neurological, suggesting I’d go to the emergency room so I did and I was with my mother.
That’s when I was referred to a neurologist in Pittsburgh Pennsylvania US at UPMC for the symptoms I was having. Despite all the previous testing, I was diagnosed with Episodic Ataxia type2 based only on my symptoms, positive family history, and my response to a medication called Acetazolamide. I was episode-free for a number of years before the return of some symptoms, to a lesser severity, and frequency. The office wanted to do genetic testing after the age of 18 at the time but I was 17 and moved away. I had prior genetic testing in 2005 which resulted in an inconclusive result. My brain scans showed a normal cerebellum with no atrophy or shrinkage at the time and my last MRI was in 2017 after some of my symptoms returning. I noticed now I have tremors about daily, I get twitching in my hands, and jerks, as well as jerking during some of my episodes. I can’t drink anything with caffeine as it brings out my symptoms. My symptoms are also brought out by physical activity, stress, and heat.
Nowadays, I’ve had episodes where I’d slur my speech. I have permanent nystagmus but many doctors shrugged it off as a sign of the condition and refused to prescribe me a medication called Acetazolamide because “tests did not show I have this condition” It is in my family history but going back generations before me, they had a mild progressive permanent Ataxia in addition to episodes or ataxic exacerbations and nystagmus. My other family members showed cerebellar atrophy on an MRI as I’m the only one in my family so far without this evidence.
I’ve also had a family member with Friedreich’s Ataxia. There were many times, I couldn’t walk and needed a wheelchair, but at other times I’d manage without one as I looked like I don’t have Ataxia, I get nausea and vomit. Currently, I’ve transferred back to Pennsylvania US and I’m going back to Pittsburgh to see a neurologist, the same person that knows my family history personally and has helped my other family members with Ataxia.
I saw my neurologist in Pittsburgh Pennsylvania September 18th, 2020 and he saw on my MRI, that I do indeed have cerebellar atrophy (shrinkage) that others claimed to be normal or looked over. I had recently learned this happened to another one of my family members with the same condition. This neurologist was the first neurologist to see it and point it out, compared it with an MRI in 2008 as I had about 5 between this period which indicated no significant changes between 2008-2017. He referred me to a geneticist or counselor to see about genetic testing for Episodic Ataxia since my symptoms seem pretty identical to these types.
There are about 8 known types of Episodic Ataxias. I showed him the videos I’ve been taking for documentation as my symptoms fluctuate a lot and he says “looks like you have Episodic Ataxia “ prescribed me a medication to help with nausea if I were to continue having problems with the sickness related to this condition. He had all my prior testing and genetics that were done previously, which wasn’t a specific diagnosis for Ataxia, as the gene variant found wasn’t known at the time. Early on with the disease, I appeared “fine” during most of my neurological exams. I was just getting sick and dizzy but now I have permanent cerebellar signs when seeing the neurologist, a few examples are muscle weakness whether in general or on one side of the body, tremors (involuntary shaking of hands) nystagmus (involuntary jerk eye movements) and dysmetria(a form of ataxia with the inability to judge distances and coordinate, a target from a distance such as seen in finger to nose testing).
It gets me really sick but despite my condition, I horseback ride and have two beautiful horses. My gaited mare, Annie, and my gelding, Waylon. I absolutely love it and enjoy them both. I see it as very therapeutic for my balance troubles. On a downside, I’ve been to the hospital several times due to the severity of my symptoms however I encourage people to enjoy life to the fullest on what you can do, and not your limitations as everyone has some sort of limitation. This is my life with Ataxia. My story.
Thanks, Darcy Downing for sharing your story at length about coping with EA2.
Please consider sharing your story – whether you have Ataxia, are a caregiver, friend, or relative. You may fill out the form below to get started.
March 4, 2021 @ 6:42 am
Hey Darcy,
I also have the symptoms of EA2 but in genetic testing, the results were inconclusive (Uncertain Significance). All of my other tests have come back normal as well. Would you be willing to share the contact info of your neurologist who was able to determine your cerebellar atrophy from the MRI. Here in India all doctors I have gone to have been unable to form a diagnosis and my MRIs appear normal.
regards
Pujeet Jha
March 4, 2021 @ 9:27 am
Hi Pujeet. I saw your comment. Darcy likely won’t see this, so I’ll copy it and your email address and send it to her. I hope this helps.
Mark
April 22, 2021 @ 6:03 pm
Wow, my daughter has ataxia. In 2004 & 2006 she had MRI and it was “normal”. Growing up she had episodes where her ataxia worsened and she’d regress then come out of it. She had genetic testing in 2006 and the EA2 came back as a missense. On repeating it was decided it was an artifact. She was diagnosed with benign paroxysmal torticollis and then paroxysmal vertigo and then cyclical vomiting and migraines. Her episodes as got older decreased and her less severe. At least we figured out triggers and could avoid as well as having zofran to stop vomiting. At 16 she’s started have episodes of dizziness and sometimes nausea. She was eventually referred back to neurology and got another MRI. This time the neurologist noted some minor atrophy in her cerebullem which looking back to 2006 was also observed and now about the same. Now she’s being referred back to genetics. I was just struck by the similarities in your stories. Thank you for sharing
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