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.