Meet Chloe. She's almost three years old, though many thought she would never make it to birth. At a routine ultrasound at twenty weeks we learned things no parent wants to hear. Three chamber heart. Cleft lip and palate. Club feet. Fluid on brain and lungs. It took not one but two amniocentesis to get a solid diagnosis of a chromosomal disorder called Mosaic Trisomy 22. Any chromosome can have a trisomy (3 of that chromosome instead of 2). But Chloe's mosaic status means that not every 22nd chromosome carries the extra 3rd chromosome.
This was a very scary diagnosis because there's so little research for this. My OB gave us the diagnosis from the amniocentesis results along with a handful of material he'd found, but there's so little info that our own research had already found the same exact material. At this point all we knew was that complete trisomy 22 was most likely one of the top trisomies to naturally end a second trimester baby. We had no idea what Mosaic would entail.
We were blessed to find an online FB group for MT22 parents (or those who have this), and it has given us a wealth of information. Never underestimate the power of a support group.
What we do know is that there's a list a mile long of possible symptoms that go with MT22, and that no two MT22 people can share the same exact set of symptoms, mainly because there's no real way to test every cell or organ to know which has a set of 3 on the 22nd chromosome, or which is the normal pair. Any given cell can be affected or not affected. For example, it's obvious that her lip and palate, ears and heart are all affected, but she has ten fingers and ten toes and a perfect liver and perfect smile. MT22 people can range from severely affected, even death, all the way to living full lives on their own. The most common traits are lower set ears, thicker neck, shorter stature, slightly wider set eyes, and a fighter's spirit.
But the good news is that because there's still so much unknown about this trisomy that means there's no statistic out there to say we shouldn't be fighting for her. Even a NICU cribside consult with our hospital's bio ethics director resulted in him agreeing that we just don't know what she's capable of. A grey zone baby. So we fight with her to prove she's more than some rarely documented trisomy, and as long as she shows us she's got fight in her, then we fight for her. She's our Little Warrior.
Currently Chloe is meeting milestones that the world told her she'd never meet, like learning to sit up and sign language, and weaned off her ventilator after her Glenn heart surgery, another thing we were told she'd never be able to do.
For more information about Mosaic Trisomy 22, or to learn more about Chloe and her journey, visit her blog at www.ourchloeelizabeth.blogspot.com. There you'll also find a link to a children's book I've written to help Chloe's siblings better understand their sister and all her tubes, which is available on Amazon.
Chloe and her family live in Kansas where her daddy is a worship director at a church and her mama homeschools (because germs!) her older two siblings and volunteers as a graphic designer for the Thrive Moms ministry. Her nurse who she plays with four days a week is her BFF.
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