Made it to 30
When I was a senior in college, I took an Entrepreneurship course and our teacher made us write down 10 goals you wanted to reach by the time you were 30. I won’t bore you with the details of my goals, some seem now very lofty and I most definitely didn’t reach them, some I am still trying to figure out, and a very small percentage, I accomplished. Yet, I felt like a million bucks when I reached 30 and I will tell you why.
I have Jeune Syndrome, also called asphyxiating thoracic dystrophy. An estimated 1 in 100,000 to 130,000 babies are born with this syndrome. Not only are we rare, but for each one of us our diagnosis is expressed very differently. The majority of children born with Jeune syndrome have severe breathing problems. Some children will grow out of these after age 2, while others may need lifelong ventilator support.
People diagnosed with Jeune may also develop high blood pressure, liver disease, pancreatic cysts, dental abnormalities and retinal disease, leading to night blindness and/or tunnel vision. My condition is so rare, that back in the early 1990s when I was born, most of this information wasn't available. So it wasn’t until a week before my 30th birthday, that I was getting my first retinal exam done.
Although I am not proud that I waited this long to learn more about my diagnosis, I am aware that its better late than never. I know that I waited partly because of how mild my condition is, which kept me away from doctor offices and hospitals for the better part of my childhood. However, I am also painfully aware that I waited so long to learn more about my genetic condition because of the stigma I felt of having a condition that made me different, that made me rare. And this stigma kept me from the truth. And I know exactly, that against all odds, I live a resilient, fulfilled and joyful life because of my genetic condition. I have been conditioned to live my life in no other way.
I am here to say, that if you feel bad for sweeping under the rug your diagnosis, for fear of what it may or may not be, don’t be. Fear is normal and natural but don’t let fear bar you from eventually taking action, because perhaps if you are as lucky as you are rare, learning about your diagnosis might just make you feel whole again.
From September 14- 25th we will be partnering with Global Genes to raise awareness about the experience of having a rare condition. This organization has educated over 75,000 advocates on the challenges of having a rare condition and reached over 6 million patients.
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