Our Members - Their Stories

MDANZ members share their personal stories of living with a Muscular Dystrophy condition. 

Rare disease teaches Louise to be kinder to herself and others

09 February 2021
Melanie Louden

From a GP who said it was all in her head, to facing her fears, Louise Davy is determined not to let the rare disease she has limit her. She shares her story with Melanie Louden ahead of Rare Disease Day on February 28, 2021.

Nothing is holding Louise back from making the most of life. 

Fifty-one-year-old Louise Davy is “really happy with where my life has gone and where I am now

But when she was first diagnosed with Episodic ataxia Type 2 at the age of 37, she couldn’t have imagined ever saying that.  

Episodic ataxia Type 2 is a neurological condition that impairs movement. People experience episodes of poor coordination and/or balance (ataxia) which can last several hours, they may also have difficulty speakingdouble visionringing in the earsmuscle tremors and temporary paralysis. 

Episodes can be triggered by external factors such as stresscaffeine, alcoholmedication, fever and physical exertion. 

It is believed to affect 1 in 100,000 people worldwide.  

When it comes to New Zealand, Louise, a member of the Muscular Dystrophy Association of New Zealand’s Canterbury Region, has been told by theNZ Neuromuscular Disease Registry that she is the only Kiwi registered with the condition.  

However, she has heard anecdotally of one other New Zealand family where the same condition is present.  

Louise, a school teacher for 21 years, says having a rare disease isn’t easy when it comes to getting a diagnosis.  

She first had symptoms at the age of eight, and when she was 12 she was misdiagnosed as suffering from migraines. 

“I had blurry vision, I was vomiting, unable to walk straight, it was like I was drunk. But migraine medication didn’t help. The only thing that helped was sleep,” she says. 

Louise continued to have episodes, but it wasn’t until she was in her 30s that she had one while she was at school. 

Louise, pictured with her daughter Jo, and son Ben. 

My GP told me it was all in my head and said I should see a psychologist. But my brother encouraged me to see a private neurologist. 

The mother of two says she was “incredibly impressed by the neurologist.  

He said he thought he knew what it was, but he didn’t want to tell me until he had confirmation, because he knew I’d go home and Google it and read all about it.” 

Her neurologist invited her to speak to a group of 20 other neurologists, and they all agreed it was Episodic ataxia Type 2. 

“I went back to my GP, but he still didn’t believe me. Hsaid, it can't be that because it's too rare. 

Louise says when the diagnosis was confirmed she felt very lonely. 

“There was depression, anger, why me?’, but that didn’t last long. 

There was also uncertainty about whether anyone else in her family had Episodic ataxia Type 2 

She says in hindsight her mother and grandfather most likely had it, and while her eldest child Ben has not yet been formally diagnosed, he is now experiencing mild symptoms.  

The Rangiora resident feels the effects of the condition all the time – she has bad balance and repetitive eye movements. She is unable to walk straight, and vomiting and slurred speech appear when she has an episode. 

Louise and her husband Pete.

As time went on I started realising one was coming on. You become really aware of what’s going on in your body.  

I look like I’m drunk or having a stroke – that’s what people can relate to. 

Louise is grateful the medication she is on is government funded and says without it she’d be in a wheelchair. 

Stress brings on an episode, so Louise uses breathing techniques and mindfulness to help. 

She also likes to challenge herself and has been known to face something stressful head on to help her overcome the fear.  

was scared of public speaking, so I joined a Toastmasters group. I was scared of heights, so my brother took me gliding.  

Once I take away the stress, it means I don’t have an attack when I’m in those situations. 

Louise says her children Ben and Jo, and her husband Pete, are her greatest support, along with an international Facebook group. 

“Initially I asked lots of questions, but now I’m helping other people. I’m making sure that other people don’t feel as alone as I did in the beginning. 

She says being able to connect with people all over the world and support each other is an important part of having a rare disease.  

Having Episodic ataxia Type 2 has taught Louise to be kind to herself and kinder to others.  

To look at me you wouldn’t know I had a rare disease. You look at other people and you don’t know what they are walking with, what they are going through. 

Louise says the key is to make sure your rare disease does not define you or limit you.  

Im normal. I just happen to have a rare disease. 

Louise and Pete on their wedding day.

The teacher of Year 7 and 8 children certainly hasn’t let Episodic ataxia Type 2 limit her in anyway – she has been hot air ballooning, travelled overseas by herselfclimbed Mount Vesuvius and seven years ago she married Pete. 

Louise says when she was younger, she swore that when she got better she would run a marathon – not because she liked running, but because it was something she couldn’t do.   

But I’ve had to let that go. I have other dreams now. 

 

* Louise is sharing her story in the lead up to Rare Disease DayThe international day aims to raise awareness amongst the general public and decision-makers about rare diseases and their impact on peoples’ lives. Rare Disease Day takes place on the last day of February, a month known for having a ‘rare’ number of days. 


For more information please contact:     
Melanie Louden 
Communications and Marketing Advisor 
Muscular Dystrophy Association of New Zealand 
027 509 8774 
[email protected]