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Tahnie’s Story (Cystinosis)

Tahnie's Story (Cystinosis)LRWhen I was 16-months-old, on the cusp of toddler-hood, doctors told my mother and father that I would not live to see my 10th birthday.

I was diagnosed with cystinosis, a condition so incredibly rare, that the majority of doctors have never ever heard of it, let alone have any experience treating anyone with it. There are less than 10 people in my home state of Utah who are living with it.

Cystinosis causes cystine crystals to build up in every single cell and organ of the body. It causes kidney failure, diabetes, muscle wasting, blindness, voice problems, swallowing issues, and many other complications. There is no cure and the only treatment to slow down the progression is a drug called Cystagon. It is a sulfur-based medication that causes intense GI problems, extreme fatigue, and headaches. Treatment hasn’t changed in over 30 years and I fight every day to make a difference in that through fundraising and awareness. Because the disease is so rare, there are very little funds for research available.

When I was 11 years old, my mother gave me life for a second time and donated her kidney to me. Throughout the past 18 years, my kidney has worked incredibly well. But I have faced many other issues after the transplant, and on top of all the hurdles of cystinosis. Every day is an intense medication regimen of pills every 6 hours (yes, of every single day) and eye drops that must be done every hour I am awake, in order to prevent the cystine crystals in my eyes from causing me to go blind.

I blog at sharing my challenges and struggles, along with my victories. I am 29-years-old today and a momma to our miracle girl. There are only about 10 other women with cystinosis (in the entire world) who have been able to have a child.

I believe I am blessed beyond all measure. There are so many reasons I shouldn’t be here right now and endless miracles have had to occur to ensure that I AM.

Submitted September 27, 2012

This story is intended to convey a personal experience and, because every person’s experience is unique, should not be relied upon as a substitute for professional healthcare advice.

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