Thread by @ElizabethJBond

THREAD:
I'm pleased that today is #RareDiseaseDay as I'd like to raise awareness of something close to my ❤️ - a condition called "Genitopatellar Syndrome".

Chances are you haven't heard of it as only a handful of people in the world have been officially diagnosed with it. /1

Sadly, one of them is my three-year-old niece. She's a sweet, smiley little girl who brings joy to all who know her. But she has also suffered multiple health problems since birth. These include blindness, club feet, hole in the ❤️, a missing corpus callosum, & kidney issues. /2

This #RareDisease is caused by a mutation of the KAT6B gene. Not much is known about it as it was only identified as the cause a few years ago. This link provides a good overall summary, though I believe the gene can mutate in different ways dovemed.com/diseases-condi… /3

Hence, not all children with it will have exactly the same symptoms. There may also be some overlap with two other #RareDiseases called "Ohdo syndrome" and "Say-Barber-Biesecker-Young-Simpson" syndrome (SBBYS) - which are also caused by KAT6B mutations. /4

Sadly, the prognosis for Genitopatellar syndrome is not great. Many children with it don't even survive infancy. I literally cried for three days after my niece was diagnosed & read how parents have lost children to this cruel condition. 😢😭😭 /5

However, I have resolved to raise as much awareness of it as possible. Although GPS is a #RareDisease, it is definitely underdiagnosed. It took doctors over 2 & a half years to diagnose my niece. And I know one lady whose daughter was only diagnosed 3 years after she passed. /6

The earlier the diagnosis, the better the chances of survival. Parents would know what they're dealing with and the danger zones to watch out for. I must mention here that malrotated bowels/sepsis are one of the major things to keep an eye on. I know of 3 kids who had this. /7

I have so much love for my beautiful niece who has taught me more about patience, resilience, and appreciating every moment of life than anyone I've ever met.
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#RareDiseaseDay #ShowYourRare #ThursdayMotivation #RareDiseaseDay2019 #GenitopatellarSyndrome

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