Genetic Tests Part 1


(Since 12/20/18 as of about 2:29 PM on 04/05/19)

💜Well y’all… The time has come!💜

🦋We finally have gotten our test results on our Emmy Lou. We haven’t gotten the secondary findings yet on Ryan and I yet. But the genetic counselor did not want to hold us up from getting the results on Emma. Rachel our genetic counselor will go through all the information she received and call us next week with the rest of the results, but she wanted to let us know what she knew was for certain.🦋

🦋We know that what Emma was diagnosed with was in fact spontaneous as they had suspected. Meaning that the gene mutation in Emma was not carried over from Ryan or myself. Which is WONDERFUL news, it does not take away the fact that we lost our precious baby girl, but it does however let us know that there is a less than 1% chance of this recurring in any future pregnancies.🦋

🦋We were even told that if we for whatever reason wanted to test future pregnancies, that there was a test that could be done at about 10-13 weeks to look for the gene mutation. We aren’t sure if we want to pursue that or not, because well we are not pregnant, so it’s not something we are worried about right now.🦋

🦋Emma had a genetic mutation in her Piezo2. Everyone has 2 copies of this gene and Emma had a change in 1 of her 2 copies. This is commonly found in many other conditions as well, but collectively is considered Piezo2 associated disorder. This is actually not a lethal diagnosis, and there are other people with this who survive. Most people with Piezo2 associated disorder have been seen to have Arthrogryposis, Pulmonary issues, cleft palate, dandy walker malformation, and craniofacial problems, which is why this fits perfectly into what Emma was diagnosed with.🦋

🦋We do know that this mutation was found in ALL of Emma’s DNA, not just the egg cell or just the sperm cell. So it was there from the beginning, and there was nothing we did or could have done to change the outcome. Which is another huge relief, because let me tell ya, no matter how many times or how many people tell you that it wasn’t your fault, it is still a hard pill to swallow that you lost your child moments after birth.🦋

🦋Rachel said it’s the best possible outcome we could have gotten because it says exactly what was wrong with Emma, and she said scientifically and personally it’s a very satisfying answer for her to have received. Nothing is ever 0% or 100% in medicine. But with the results we received today, we are very positive and optimistic that Emma’s condition will not happen in future pregnancies.🦋

🦋We will update more when we get the results of the secondary findings of Ryan and I. As for now, we are both so happy and overjoyed to get this news and can’t wait to update when we are finally pregnant again! Thank you to everyone for the support, prayers, check ins etc. we could not have gotten through this long tedious process without you all.🦋

💜Katie, Ryan and Emma💜

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