Linda Spencer

Our youngest son Connor was born on a beautiful fall morning. He was the youngest of our three children, so he had a sister who was 7 and a brother who was 3.  He was and has always been so loved and adored.

When he was six months old, I, being a speech-language pathologist who worked with many individuals young and old who had a variety of neurological issues, noted that he was having a mild seizure. I timed it …67 seconds of sphinx-pose he was stock still, staring into space. I watched him closely for the next day and this did not repeat. I reported this to his pediatrician and we monitored him.

All his developmental milestones were right on target. He had been sitting  for a few months, he crawled on time, walked on time and said his first word on time. He did have ear infections and got ear tubes at 14 months. Even so, we called him our little drunkard. This, because he would be walking fine, and then inexplicably, he would stagger and sometimes fall.

By the time he was 18 months I asked for a referral to a Physical Therapist. The diagnosis, “He is trying to keep up with a busy family, and he walks until he is too tired.”  I was told to slow our family down or let him walk and then carry him if he seems to be stressed about keeping up. He was usually very healthy, but if he did get sick his fevers would skyrocket and he had febrile seizures.

We kept Tylenol, Motrin and suppositories on hand and practiced ‘aggressive fever control’ which minimized the seizures. His speech and language developed with some concerns. He had a few speech sound errors that lingered longer than they should have, and I noted that his prosody (simply, the melody of his speech) was a bit flat. 

Reading was very hard for him, and he had trouble tracking the words with his eyes, and his processing for recognizing words was slow. He could not learn to ride a bike, despite hours of patient practice. He struggled learning to swim. In Junior High, he was swimming in gym class and suddenly, as the teacher reported, he seemed to go limp and lose all muscle control. They excused him from gym class for the rest of the swimming section.

In high school he loved track and soccer and excelled at both.  In Soccer when running hard or on hot days, he would have ‘spells’ becoming so dizzy that he lost all control of his coordination. He was rushed to the hospital and was tested for cardiologic issues, and neurological issues, MRI scans.  We received no diagnosis. Then at age 20, his spells became so severe, even playing card games or video games would set him off. I could see he had nystagmus (pulsating of the eyes).

We tried another neurologist in Provo, UT. She talked to Connor, asked questions, listened to my stories and my insistence that ‘he becomes ataxic’ and within 10 minutes diagnosed him with Episodic Ataxia. She prescribed acetazolamide, a drug that reduces the activity of a protein in your body called carbonic anhydrase and is sometimes used for altitude sickness. Connor’s ‘spells’ reduced from over 10 times a week to sometimes less than once a month. His life was transformed. Then his doctor had to leave Utah, as it was not hospitable to transgender individuals, and she was transgender.

The next neurologist sniffed at the diagnosis and discontinued the acetazolamide, saying, “it takes a genetic test to diagnose this, I don’t think you have episodic ataxia.  Three days later when I picked him up from work, Connor was staggering and back to baseline. I asked him what was going on and he told me his new neurologist discontinued his meds. Furious, we demanded the prescription be reinstated. Connor’s new neurologist ordered genetic testing. Today we got the results. He has tested positive for abnormalities seen in Episodic ataxia type 2.