It’s funny, I have to laugh every time someone asks me if I am pursuing a degree in Genetics because of my own genetic disease. Actually no. I knew I wanted to do something in the science ever since I was young and as I grew my fascination with genetics did as well. By the time I reached middle school I was so excited to see that genetics was part of the curriculum- I fell in love.
I remember sitting watching GATTACA and being so excited to start the genetics unit in my 7th grade science class. By the end of the unit I was dying to know more (and was so disappointed that it was over). I was so overwhelmed and excited by the prospect of genetics I never questioned why it was that I needed to go see a Geneticist myself. The years went on and I continued to pursue my passion in my free time, I even did a High School Capstone on Epigenetics.
Then the day came- I was on my way to a therapy session from my college class and my mother mentioned not taking any medications. I of course had heard this throughout my life but never understood why my mother was so against it. So I finally asked. She said
“Well it’s about time I told you… you have a genetic disease.”
The shock itself made it feel like the world stopped turning and everything came crashing down. Let’s just say I was lucky I was already on my way to a therapy session. I was 19 years old and of course it took me some time to come to terms with my disease. Much longer than I would have liked- years really. I went to a really dark place for awhile- anger, fear and confusion all played a role. It was tough because I really felt like I was alone even when I was seeking out help.
Not many physicians have heard of alkaptonuria, and some don’t have any interest in finding out what it is. Of course I had to have a run in with one of those. Which of course didn’t help my confidence in finding a caring supportive doctor of my own. I think the cherry on top was the fact that a treatment was in the works… in the U.K. (and is still to this day not available in the United States). Not to mention the fact that even if it was available the financial cost was (and still is) WAY above what most of the country could afford to pay.
This is a theme that seems to reoccur in the rare disease community- a treatment may be available but there is no guarantee that insurance companies would cover the cost. That or the insurance companies can’t cover the cost of the treatment because it’s not FDA approved. Anyone in the rare disease community can tell you what an ordeal it is to get the FDA to approve a treatment in the United States. Three words. RED TAPE EVERYWHERE.
Navigating that nightmare is not for the faint of heart- I admire those who try and have to give a hearty round of applause to those who have succeeded. This is where my hopes and dreams come in. I dream a dream where rare disease patients never have to worry about financial costs, insurance coverage, or even if their doctor is willing to learn with them. Gone are the days where we are fraught with intrusive insecurities about treatments and behold a new day where physicians work together with specialists and support their patients on all aspects of their diagnosis. I know, a lofty goal indeed, but hey, my favorite quote isn’t “Shoot for the moon, even if you miss you’ll land among the stars” for nothing.