For the past five years it has been overwhelmingly obvious that there is a missing puzzle piece in Emma's medical diagnosis. A few months ago we submitted a whole genome sequencing for genetic testing. This included my blood, Scott's blood, and Emma's blood. Last week I received a call from the genetics department at children's medical center in Dallas. The results were back from Emma's genetic testing and the results were that Emma has an abnormality on arid 1B gene. This syndrome that is associated with this abnormality is called Coffin-Siris syndrome. When the genetics doctor was reading the list of issues associated with this syndrome it was like she was describing Emma. Here's where it gets even more intriguing, according to the National Institute of Health, there have only been approximately 140 cases of this syndrome. That's right, Emma is one of approximately 140 people to ever be diagnosed with the syndrome.
Here is a brief synopsis of medical issues typically associated with CSS:
(National Institute of Health)
When I received the news from our genetics team, I felt this overwhelming since of relief....this doesn't change Emma's prognosis, but perhaps it will help us better understand how to better care for her. I'm honestly glad we didn't know five years ago. I'm not sure what the medical team would've done or not done. Since this is such a rare genetic abnormality, little is known which makes it difficult.
You see, what's hard is that we have had phenomenal care over the past six years. Surgeons, doctors, nurses, respiratory therapists, and other medical professionals have worked tirelessly to try to figure Emma out, scratched their heads at her body's responses to surgeries, meds, procedures, etc. They have consulted other doctors, experimented on her, went against the norms, etc. It has been frustrating for both them and Scott and I to watch her struggle and reject what should work. Maybe, just maybe we were/are fighting something that is fighting harder back, creating obstacles that haven't been figured out yet, and adding extra stress on Emma's body.
I don't want Emma to be one of 140 people in the world; I don't want every aspect of Emma's life to be so incredibly hard; I don't want her to stump all the doctors, I don't want her to not have any more surgical/transplant options; however, that is our life....our obstacles.....our blessings in disguise.
Emma will not be defined by statistics....by what ifs.....You see, Emma knows no different. She is surrounded by family and friends who love her for WHO she is. We have never underestimated her...more importantly, we have never underestimate God. Our God is bigger...no matter the Earthly outcome. We know. Our faith gets us up in morning to continue living, loving, and being a light for HIM!
Thank you for the continued prayers, love, and support. Enjoy some pics of our sweet sassy girl loving life!
God is good! All the time! God is good!
Easter Egg Hunt with the Cousins