Hi ladies and gentlemen, thank you for taking the time to read this post. If the title has caught your attention or you want to know why I'm a one in 2.4 billion person, please keep reading!
I have a condition called Witteveen-Kolk Syndrome. Now, generally, the rarity of this condition is 1-1,000,000 but because of what 'symptoms' or other medically issues I have with it, I'm basically the first person ever to have all 3 of these things.
So, what is Witteveen-Kolk Syndrome, you ask? It is a genetic deletion/micro-deletion/misspelling on the SIN3A gene on the 15th Chromosome. SIN3A is at 24q on the 15th Chromosome.
What does it do? Ohhh boy. This is where it gets fun. It causes upto 107 different issues (which can be found here -> https://www.malacards.org/card/witteveen_kolk_syndrome) of which, I have 14. Now, 14 out of 107 doesn't sound so bad, right? Well. The 3 major ones for me are my survival of a Diaphragmatic Hernia at birth. CDH, as it's known, is a condition where the diaphragm doesn't form properly, causing the intestines/liver/stomach etc; to enter the chest cavity, making things rather squashy where the lungs are meant to be. Mine was a little different, it went undiagnosed with 6 weeks. So basically, I had no food for 6 weeks. Lost a lot of weight and nearly died, but now I have an amazing 6 inch scar running from my belly button to my chest so that's cool. Very rare to have CDH and WITKOS, but here I stand. It's even more rare to have Epilepsy with it, which, surprise surprise. But the rarest of all conditions associated with WITKOS is Hypogonadatropic Hypogonadism, or Kallmann Syndrome. I was diagnosed with KS 10 years ago in August, and take regular hormone replacement therapy for it, due to the fact that my brain doesn't produce any hormone at all essentially. All because genes on my X Chromosome, including, but not limited to, GnRH1, KAL1, PROK2, PROK2R, TAC3, LH, FSH, TSH, FGFR1 etc have all become mutated and don't do what they're meant to. Which is a b*tch. All these things together, well... I'm the first reported case of having all 3 together, plus other things like dental issues, joint flexity, etc.
So there you have it folks. I'll put a link to my YouTube page so you can check it out in further detail what KS and WITKOS are. If you have it, or know anyone that does, even KS, please, for the love of God, message me. Thank you!