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. 

Sunday, October 5, 2014

Kingergarten Kid

Ella has been in Kindergarten for a little more than a month it's about time I get back to this blogging thing. I have so much to update and so many feelings about school, growing up and the future! Kindergarten is a BIG deal. I am proud to say I handled the first day a lot better than I ever expected I would. Not a tear was shed (on that day). As expected, Ella did great and was so proud to march right into school. She spent six weeks in the summer program getting to know her teacher, Miss Chew and the lay of the land. She was ready to go.

We have had a good month overall. It's been busy with dance class, both girls are taking swimming lessons (on different days) and Kellen is already 6 months old and full of energy. There have certainly been ups and downs as Ella adjusts to school. It's an adjustment for all of us. Kindergarten is a full day, so Avery is getting used to not having Ella around for much of the day. She misses her sister a lot and is always asking if it is time to go pick up Ella yet. It is very sweet to see her run and hug Ella every afternoon...and then of course there are the days when the tenderness only lasts so long and they are duking it out before we even get to the car! 
Hat Day at school!

Ella is learning a lot and it is so encouraging to see how she is picking things up. She is writing her name and pointing out some of her sight words on things at home (Wheel of Fortune especially, haha) There are some challenges as well. As homework becomes more difficult, Ella is getting a little more frustrated. She will tell me she can't do something and move back to something she is more confident in. It's happening at school as well. While I know a lot of this is very typical 5 year old behavior, I do worry that Ella will become frustrated. Her speech delay is pretty significant. The gap is closing, but at a snails pace. I hope that she doesn't regress because of this...shut down and not talk because she is frustrated or feels like she can't get anywhere. Everyone—learning disability or not—has their own unique learning style. Some people learn best by seeing or reading, others by listening, and still others by doing. Right now we are figuring out day by day what works best for Ella. One of the strongest assets I have seen this year of her teacher and the staff is that as soon as something doesn't work or progress isn't what everyone thought, a new plan, a better technique is tried. Most importantly there is constant communication which always puts me at ease at the end of the day.

We know Ella is smart. We know she is far more capable of doing and learning things then even she often lets on. Miss Chew is a master at getting many of these things out of her. She is so good for Ella and so reassuring to me. She has only been in school a month and Rome wasn't built in a day. 99% of the time I bring my positive attitude and know Ella has already surpassed any doctors or diagnosed expectations. There are still those fleeting moments (often when I have a rare moment alone or when I am deliriously tired) that I get upset. I can admit that there are times where I long for things to be easier for Ella, for her speech to be clearer, her muscles to be stronger. I snap out of it pretty quickly though. Ella is awesome, strong, smart and HAPPY. I am so proud to be her mom and so proud of how well she is doing.
Ella's artwork hanging in the hallway at school!

All children need love, encouragement, and support. I am so confident in the setting Ella is in right now and with the teacher and therapists and classmates she has. All of these positive reinforcements will no doubt help ensure that she emerges with a strong sense of self-worth, confidence, and the determination to keep going even when things are tough.

PS - Stay tuned for my next blog...this week I have to dedicate an entire post to Aves. She is my quirky, funny, strong willed two year old who makes me laugh (and lose my patience) every day. Her one-liners and "weird" little ways must be shared!