By Darcy, Episodic ataxia type 2, United States, March 29, 2020
My name is Darcy & this is my story "Life with Ataxia" my journey to diagnosis.
I was born July 26th 1992 & I was considered a developmentally delay child. I was late to walk, talk & 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 & language support then later the autistic support, learning support & emotional support.
I started having strange symptoms around age 9-10 years old & they started out as occational "dizzy spells" that would happen about twice a year but as time went on the dizziness became worse & more frequent. I then started having additional symptoms with the dizziness , where I would become nauseous & throw up. Vomiting & vertigo became severe at times where I couldn't stop throwing up. It would interfere with my schooling & daily activities. I then would have blurry & double vision as well & my eye muscles would feel like they would tighten. People would tell me that my eyes would do strange things like pupils dilating & eyes crossing. I would frequently get headaches. These symptoms would happen in "episodes" & last several hours at a time. I then started having issues with my balance & feel uncoordinated, at times 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 conveniant because my mother drove bus for my school at the time. This happened in High School. Despite of all this, I participated in Chorus, School Musicals & Fall Play as well as went on Chorus trips to New York City & Chicago.
Throughout growing up I was quite often going to the doctor & doctor to doctor. I had test done after tests, with several MRI's, I had 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 occational "fainting" spells growing up but fainting never became a huge problem. It wouldn't happen frequently. I was then diagnosed with Pre-Syncope condition & was put on blood pressure medication 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 & 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 & he told me to come in during one of my bad episodes, so I did. I arrived & threw up in the parking lot. The eye doctor checked my eyes & said "this is neurological" suggested I go into the Emergency Room so I did, & I was with my mother. We went to the hospital & that's how 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 2 in 2009 at age 17. I never understood to this day, why tests didn't show, but the doctor went by the symptoms & family history to diagnose. I was perscribed this medication often used to treat Episodic Ataxia symptoms called Acetazolamide & it had done wonderous 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?? I don't have Cerebelum Atrophy according to my MRI?! I may never know the answers to these questions. Despite of all the challenges in living with Ataxia. I have a lot to be grateful for..
My Journey Begins
My Life then and now with episodic ataxia type 2
It’s been a long journey to receiving a diagnosis for episodic ataxia. My journey began with occasional “dizzy spells” which eventually progressed to nausea and vomiting. I went for several tests, EEG’s, EKG’s, blood work to find out what was going on with my heath. But nothing showed anything wrong besides a positive tilt table test I had done at Cleveland clinic in Ohio. I went from doctor to doctors and they claimed everything was “ok” I then started seeing the psychiatrist because it was thought I had a panic disorder. As time went on I felt depressed with no hope I was gonna have any help with this illness.
The illness became more frequent by the time of high school, where I would have episodes almost every single day , lasting several hours which would interfere with my ability to function in class and school. I would take frequent trips to the nurses office. I would have trouble participating in physical education at school due to the condition. After physical education, I would frequently get dizzy and throw up. I would get hot, sweaty , weak and feel unstable. A couple times during school I would physically collapse in gym class. These episodes continued. I would frequently need a wheelchair during episodes at school, or assistance with walking, keeping my balance. I’ve been to neurologists and they would do a neurological exam but claimed all my exams were normal for the longest time. I eventually seen a neurologist in Pittsburgh Pennsylvania that agreed I had an intermittent ataxia(episodes) and was prescribed Diamox to treat the symptoms. The symptoms disappeared for years but the longer on the medication, the more it becomes less effective, my body has currently adjusted to this medication. That’s when I was diagnosed officially.
NOW with Episodic Ataxia type 2 Currently my episodes are still well controlled and not as severe with this medication but as my body got adjusted to the medication, the vertigo (dizziness) started to re appear. Neurologist appointment 3/11/2020 I seen my neurologist at University Hospitals an hour away on March 11th of 2020. Told him what has been going on with my vertigo which would provoke nausea and vomiting from my ataxia. He then got an opinion from someone else on what medication to take for vertigo and then prescribed me an anti seizure medication. He gave me a neurological exam, he DID see signs of my ataxia without having an episode of severe ataxia, along with vertigo and vomiting. He saw I had some dysmetria in finger to nose testing, my heel to toe was “ok” he said in fact was good. Dysmetria is a type of ataxia that’s overshooting or undershooting a target from a distance when they ask during the exam to touch your nose with your finger to there finger which displayed some coordination problems. He then took a look at my eye movements and had me follow his finger with my eyes, which indicated nystagmus which has been there since school from what I know of. Nystagmus is an eye movement disorder caused by episodic ataxia type 2 where eyes jerk repeatedly. In which he said was a clear sign of the condition. I’ve had a couple instances where I had a couple trips to the emergency room due to my condition being provoked by anti seizure meds. The last time I visited the emergency room , I was put on this medication to help with the vertigo I experience. Along with the vertigo, I get nausea and sick. This last experience, I started jerking real bad, felt like I was going into a seizure, I felt so weak and couldn’t coordinate my arms and hands to put my shoes on. I then laid back and started jerking uncontrollably. I couldn’t walk for 3 hours after the incident which took place shortly after taking my morning pills. The ambulance came to pick me up, and took me to the emergency room to get checked out. They did an EKG which was normal and did blood work and found I had low potassium in the blood. They then prescribed me potassium pills for 5 days until I were to get follow up blood work done. As hours passed I felt better that day but felt a little funny. They didn’t want me leaving the hospital until they seen me walking. All and all I’m still working, riding my horse Episodic Ataxia is a debilitating illness that takes away your ability to do things and you feel limited. Cure Episodic Ataxia Episodic Ataxia general symptoms Not everyone experiences the same symptoms Nystagmus (jerky eye movement) in between episodes and during Vertigo during episodes Nausea and vomiting during episodes Ataxia (imbalance) can happen during or in between episodes Seizures during episodes Difficulty walking (may need a wheelchair during episodes) Tremors To name a few Symptoms at first can mimic other illness’s like Panic attack Anxiety disorders Heat exhaustion Among other disorders Episodic Ataxia are often brought out by certain factors like Medication Fever Physical exertion Heat Stress Depending on your triggers.
Episodic Ataxia is a group of neurological conditions that cause problems with movement. People with episodic ataxia have recurring episodes of poor balance and coordination, vertigo and even vomiting. Others may experience seizures, ringing in the ears, paralysis on one side of the body and tremors. In Episodic Ataxia type2 episodes last hours to days affecting your every day life and people may eventually develop permanent symptoms in between episodes like nystagmus and ataxia. Episodic Ataxia is very rare effecting only less than 1 in 100,000 people.