Gitelman syndrome

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I got my diagnosis at 46

I used to faint quite often in my adolescence and get cramps very often. That didn't stop me from practising swimming and training at a high level and doing competitions. I have always felt very tired and I had anxiety and depression episodes. But after having my second child, at 37, the symptoms worsen. They realised I had low potassium and magnesium levels but doctors couldn't figure out what I had. Finally a doctor in Hospital Sant Pau (Dr Susana Web) suggested I could have Gitelman Syndrome and sent me to Fundació Gispert, a medical center specialised in renal diseases. My current doctor, Dr Alba Herreros, ordered a genetic analysis and it came back with a diagnose: Gitelman Syndrome. Now I am worried that my oldest daughter might have it as she shows symptoms similar to mine at her age. I will speak to her pediatrician and will get her tested. I have to say that receiving a clear diagnosis has improved my humor and I am more relaxed as I know that the disease can be treated with potassium and magnesium supplements, as well as plenty of fruit and vegs in my diet.

Your daughter should not have it, unless her dad is a genetic carrier. Though others that have this, however it is very possible that the children can have symptoms, however not have the mutant genetics. Please find the Face Book group I noted in your question and there are several others from Spain, France, England, Ireland, Italy, besides USA, Australia and South America that have this disease and we communicate regularly in that group and offer support and ideas on how to feel better.

Posted 6 years ago by Jerry Balek

Thank you very much for your help Jerry, much appreciated. I found Fighting Gitelmannâs Syndrome Facebook group and I asked to join. I havenât found the group I belong to Gitelmanâs Syndrome. Could you provide the link? I canât wait to start sharing my experience with other patients, I worry quite a lot as I have quite bad muscular pain and inflamation on the left side of my body and i am sure that it is caused by the disease but my doctor denies it. Thank you very much again for your help. Best regards, Teresa Bau

Posted 6 years ago by Teresa Bau

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