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Jane's Story

I first noticed that something wasn't right when I was 19 years old. I was tired all the time, got sick with virus after virus and never had energy to do anything. More symptoms started to present after I had started a permanent job. I got chest pains and heart palpitations, sore muscles, and I constantly felt fatigued. I couldn't even walk up stairs without becoming breathless. My mother took me to see our family GP and after consulting with her, she sent me straight to the hospital. I was given a bed in emergency where I had all kinds of tests. The doctors found that my potassium was incredibly low. I was put on an infusion of potassium and admitted under the renal department. I was then diagnosed with Gitelman’s Syndrome. 

 

Gitelman’s Sydnrome is an autosomal recessive kidney disorder caused by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia.  Both my parents had to carry the gene mutation in order for me to inherit the syndrome. From that moment on I was put on magnesium and potassium supplements, potassium sparing diuretics, reflux meds, and infusions when needed. My whole life turned upside down. As I’ve gotten older my body’s needs have changed and so has my treatment. I'm now doing daily infusions of potassium & magnesium. I have to be attached to my IV machine for up to 20hrs of the day. 

 

There are so many things that can affect this illness and make life incredibly hard, such as hot weather, stress, hormones, foods, and medications. I am constantly dehydrated, tired and have weak muscles. I have issues with partial and full body paralysis too. In the past, receiving treatment from hospitals has been a nightmare, because Gitelman’s Syndrome is so rare and they have either never heard of it or they don't know how to treat it. Unfortunately there is not enough known about the syndrome and treatment is fairly limited. There's not enough funding for research and awareness is pretty much non-existent. However, I'm incredibly lucky to have access to great doctors and a hospital and I have an amazing support system behind me.