My name is Sue. I am a *young* 60 year old 😉. When I was ~48 years old, my kidney function started declining. I was very healthy, so everyone (doctors included) believed that it must be high blood pressure related (which was actually being caused by the kidney disease). Nothing else seemed to be wrong...
Now, 5 years after I had a kidney transplant (thank you Michelle – a complete stranger at the time!), I know!
I had a DNA/genetic test specific for kidneys done recently after hearing about it at an AAKP (American Association of Kidney Patients), virtual conference.
It turns out that I have a RARE (at least “rare” until we find out if others have this), genetic mutation. It's called "Autosomal Dominant Tubulointerstitial Kidney Disease" (a mouthful!), or simply ADTKD. This form of ADTKD causes a mutation in the UMOD gene. UMOD is passed down from generation to generation.
There is a 50% chance that off-spring will get this gene variation IF a parent has it. Sadly, Mum, my maternal grandmother and her brother (my great uncle), both died from kidney failure during their 60s. My ancestry research shows that others in that branch of the family tree died in their late 50s and 60s (before dialysis or transplant "prescriptions" were available). I am sure it is due to this gene.
Fortunately, a transplanted kidney (like I have) is NOT affected! I found and joined the RKDF (Rare Kidney Disease Foundation) after doing a Facebook search. I know now that there is hope for future generations due to scientific advances in research, free gene testing, and a cure/therapy that is in the works!
So far, scientists only know of a small number of people in the US that carry this gene mutation! ~1,800 people worldwide. BUT the ADTKD - MUC genetic mutation was only discovered about 20 years ago: More families/people may have it than is known at this point.
I am hoping that through my story, and others’ stories, we can help spread the word, get people with “mystery” kidney disease tested, and find a cure for this now known gene mutation!
#UMOD #ADTKD #genetherapy #raredisease #genemutation #RKDF #RareKidneyDiseaseFoundation
