Teacher’s struggle to get rare disease diagnosed
A Canterbury schoolteacher was told she could not have a particular neurological condition because it was ‘‘too rare’’.
Despite Louise Davy’s diagnosis by a 20-strong team of specialists, and years of successful management through medication, the doctor maintained his position.
Davy is now 51, and has come to terms with having episodic ataxia type 2, a genetic condition so rare she is believed to be the only New Zealander diagnosed with it. Only an estimated 100,000 people have the condition globally, which is characterised by sporadic bouts of severe uncoordination and can last from hours to days.
Davy’s health issues began when she was 8.
‘‘We were playing chase at Girls’ Brigade and I suddenly went all dizzy and I had to stand completely still until it stopped.’’
She was taken aback by what happened so did not mention it to anyone initially. When she was 12, she was sent to Dunedin Hospital for a scan. ‘‘They found nothing, so I was diagnosed with atypical migraines. It always struck me as really weird because I never had headaches.’’
Her symptoms were more to do with balance and were normally brought on by stress, although other triggers included caffeine and alcohol.
She would be unable to stand or walk and could only find relief through sleep.
Davy lived with the migraine diagnosis until her 30s, by which time she had trained as a teacher and started working in classrooms.
‘‘It began happening in class, about once a week by that stage.’’
Her doctor told her it was all
in her head and to sleep it off.
‘‘I was gutted, I knew it was not in my head ... it was almost the ultimate insult.’’
Her brother eventually insisted he pay for her to see a neurologist, as the doctor would not refer her to one.
‘‘[The neurologist] said: I think I know what this is but I am not going to tell you because you will go home and Google it.’’
He instructed her to go for a run around the park and return after he had seen his next patient.
‘‘I wobbled back into his office like I was drunk, I could not walk ... and he said: yeah, that is what it is.’’ He still would not tell her the name of the condition but admitted her to hospital so she could have a scan.
He then asked Davy to attend a meeting with some other neurologists the following day, where he interviewed her about her symptoms in front of his peers. He only told Davy about her incredibly rare condition after the other specialists agreed with his diagnosis.
He told her she was the only person he had met with episodic ataxia type 2.
She was put on medication, which had helped.
She believed she would have needed to use wheelchair by now if the medication did not work so well but she chose not to dwell on what could have been.
She has two adult children and a husband, a job she loves, and a supportive family who never believed her condition was imagined.
Davy said the experience had taught her to take any opportunities that came up.
‘‘I have learned how to manage my stress by jumping into things feet first.’’
She joined Toastmasters to help her with public speaking and, while she was not comfortable in the limelight, she wanted to share her story in the hope others with rare diseases would be taken more seriously.
‘‘I had to go back to my original doctor to get a repeat of my medication ... he said to me: I still don’t think you have it, it is too rare.’’
Episodic ataxia type 2 is a genetic condition and Davy has passed it down to her son, now 30, although his case is much milder.
Sunday is Rare Disease Day, an annual initiative to raise public awareness of rare diseases and their impacts.
‘‘[The neurologist] said: I think I know what this is but I am not going to tell you because you will go home and Google it.’’ Louise Davy