Friday, October 10, 2014

100% Compatable

Thumbs up!

A recent article popped up on my Facebook feed. It was actually shared a few times now and after noticing the headline included something about a child with Trisomy 18, I took notice. A link to the article can be found here. It clearly illustrates how the medical community is flawed, especially when dealing with rare diseases and disorders.

This article hits home for me. It talks about a family with a beautiful, 2 year old daughter who was born with Trisomy 18. Part of Ella's genetic diagnosis includes a mosaic trisomy of chromosome 18 (meaning some of her 18th chromosomes have three copies). It is a serious diagnosis. To learn more about it, you can check out one of my first posts from a few year ago. It's a diagnosis that we learned is one with very little hope from the medical community. The genetic councilor who delivered the news of Ella's results told us flat out that our child was "mentally retarded" (exact words used) and that she was "incompatible with life". Imagine our horror, sadness and confusion hearing this. We were first time parents, sitting in the NICU, after the most chaotic episode of our lives. I remember Jason hugging Ella and me and saying over and over, look at her, it's just not true. They are not right. She is our beautiful little girl and this makes no sense.

This story out of Michigan reminded me of an encounter we had with a specialist here in the Albany area when we first had a hunch Ella wasn't growing at a normal pace. During our first visit, the doctor told us that she didn't feel any hormone testing would be necessary because "growth hormone would never help a child with a chromosome 18 abnormality". I remember fighting hard to get the blood work done. I also remember the doctor calling back with the results and all of sudden it was an urgent matter. This was the first time I really felt like my mom intuition was in full force. I felt vindicated that I fought for my daughter and advocated for her health and I was right. There was something wrong and she did deserve to be treated. Five years later and growth hormone and thyroid replacement medication has had a tremendous impact on Ella's life. I can't imagine where we would be today without these treatments. I have never stopped fighting for Ella. I will never stop doing everything in my power to make sure she has the best treatment. I will never let a diagnosis define my daughter.
Ella just after starting her daily shots of growth hormone!

It's a constant battle. Ella has been fighting a stomach bug on and off for almost a week now. I wasted no time getting her checked out. We are very lucky to have an incredible pediatrician who has been with us since Ella was born. She treats Ella for Ella and not what it says in her lengthy medical history. She knows when I come to see her for  a sick visit that it's the real deal and she works hard until we find answers. It took almost all week this time and some tests, but we have answers and Ella will be in tip-top shape again in no time.
Learning, growing, thriving!

Getting other people to get past Ella's complicated diagnosis has been incredibly challenging at times. I have had to deal with more than one doctor who was either hesitant to treat Ella, afraid to treat Ella, or fascinated by Ella. None of these scenarios are good when all you want is the BEST care for your child. I have learned a lot over the past five years. I know Ella's diagnosis inside out and I know Ella better than any doctor in the world. I have learned how to present information to doctors and I have also learned which doctors that we will not be seeing again. So much more needs to be done to educate doctors and genetic councilors, specialists and others in the medical community. It is not okay to discount any person's life. It is not right to not give any child or any person the ultimate chance at living a fulfilled life. 

1 comment:

  1. Thank goodness you didn't give up, Nicole! Mother's instinct is more powerful than all those ridiculous misdiagnoses! This happens all too often in my experience with my own health issues. Left a few dr/specialists' offices and never went back until I found some answers. You have one amazing little Pnut and a beautiful family.