Diagnosis of Rare Genetic Kidney Condition
Natalie Gee, from Suffolk, has been living with Gitelman Syndrome, a rare genetic kidney disorder, since she was born. However it wasn’t diagnosed until 15 years ago and, as many people (medical professionals included) still know little about it, she made it her personal mission to raise awareness.
“Gitelman Syndrome is a life-threatening genetic disorder which affects your kidneys. A key component of the kidney doesn’t function correctly. This means that your body ends up losing salts like potassium and magnesium in your urine to dangerously low levels. This can make your heart not be able to beat correctly, or cause your muscles to not work properly, as well as other critical functions being affected.”
Living with a Rare Disease
“Living with Gitelman Syndrome can be a massive struggle. I personally, have to take up to 40 tablets a day and the medication can make me feel pretty ill at times. I suffer with painful muscle cramps and numbness due to the low levels of potassium and magnesium in my body, and often find myself quite short of breath, exhausted and dizzy.
“Whilst being treated by a doctor during an emergency hospital admission, I was asked what my medical history was. When I mentioned Gitelman Syndrome his face looked blank and it was obvious he didn’t know what it was. He actually used his laptop in front of me to Google my medical condition, and then proceeded to use the information he found on Wikipedia as his basis for treatment, which shocked me.
“Wikipedia is hardly what can be considered a reliable medical resource, as anyone who can see the site can submit information to it. So to think that this was where he was getting his information from, in order to make his decisions on what medication to give, frightened me.”
“At that point I decided that one day I would take it upon myself to create a single, credible, resource that could be used to educate and raise awareness, so that no-one else would have the same experience as I did.”
Creating an Awareness Website
Natalie registered a number of related domain names, in preparation for future use, and started to gather as much information from reliable medical sources as possible.
“I was fortunate enough to be referred to Addenbrookes Hospital in Cambridge, where they have one of the leading renal clinics in the country, and was put under Professor Fiona Karet, an expert on Gitelman Syndrome.
“The information has taken a long time to collate but I managed to get the support website up and running in time for its launch on World Kidney Day in March of this year, at www.gitelmansyndrome.co.uk
“During the creation process I mentioned to Professor Karet that I was personally creating a website about the rare condition, to help other people learn more about it, and she has been kind enough to help by checking my facts to ensure that I don’t put anything on the website which is medically incorrect.”
Medical ID Jewellery
Natalie was fully aware that if she became seriously ill due to her condition and needed to be rushed to hospital, medical staff would need to know how to treat her. She knew that a medical ID band was what she needed.
“I wanted something which was both practical and comfortable. I decided that a wristband or bracelet was what I wanted an after looking around the Internet, I found the ID Band Company website. From the vast selection immediately available, I knew I’d find something suitable.
“I’ve only got little wrists and I wanted something which was comfortable enough to wear every day. I’d had a favourite sports watch years before which had a very comfortable fabric and Velcro buckle less strap which I wore all the time. When I saw the red Velcro wristband, it fitted the bill perfectly. Its waterproof ID insert gives me the ability to make sure medical staff know of my condition in an emergency, and any allergies I may have. It looks like a sports watchstrap, but is identifiable enough to be easily recognised as medical ID.
Professor Karet also agrees that medical alert products are invaluable, stating “In the case of an emergency, getting access to vital information as quickly as possible is a potential lifesaver.”
Strong Support System
Natalie never imagined that her website would receive such positive interest.
“I’m so pleased that the website has been really well received. It has had visits into 5 figures, and is now the official UK National Gitelman and Bartter Syndrome Patient Support resource.”
As a direct result, Natalie has recently been promoted onto both the Rare Renal Hypokalaemic Alkalosis Group as a Patient Representative, and the National Gitelman and Bartter Syndromes Patient Support Group as Patient Facilitator, allowing her to promote and raise awareness to an even larger audience.
For more information on Natalie’s condition and the support network her site offers, visit www.gitelmansyndrome.co.uk
The ID Band Company offers a huge range of medical ID jewellery which can be personalised to include important information about your health condition.