Monday, February 29, 2016

Rare disease day

Hi family and friends, it's Leah.  I wanted to take a little time today to write about our sweet Eliana Jane.  She has been such a joy to add to our family.  Jeremiah loves his little sister, and she is finally getting big enough where we don't have to worry about him rolling her around and driving cars on her. :)  She was 8 months old on February 22 and the light of our life.
We have had some news in the last few months though, that has opened our eyes to new experiences in our family, and our new "normal. " Let's go back a few months.  When Ellie was 2 months old, her pediatrician detected a slight heart murmur.  We have since found out that it was pretty impressive she would notice this on a 2 month old.  So we were referred to a cardiologist at Beaumont Children's hospital.  We took our 2 month old down for a echocardiogram and EKG.  They discovered that she has PPS (Pulmonary Stenosis-can't remember what the other P is for), where her heart pumps the blood too quickly through channels in her heart.  It's ok, she might outgrow it.  2 Echos later every 6 weeks, it's still there, but nothing worse.  Then he suggests we go see a geneticist to rule out some genetic conditions that could cause this.  We go there and they send us to more specialists - an eye test, X-ray, abdominal ultrasound - fun stuff. :)  Finally, we got clearance to do a chromosome blood test.  Well, the pieces of the puzzle come together and we find out that Ellie has been diagnosed with Williams Syndrome at 4 months old.  This is a chromosome disorder where she is missing part of the genetic sequence on the #7 chromosome.  Now, this is where I must say - please don't Google Williams Syndrome.  We haven't said anything about it to people really, because we don't want Ellie to be Ellie with Williams Syndrome.  We just want her to be Ellie - God's perfect gift who is "fearfully and wonderfully made."  She is not doing to be defined by this diagnosis.  God has a plan for her, and He will see that plan carried out, we are sure.  
So, having said that, this diagnosis does come with some health complications.  But, it also comes with some facial features and personality traits that make her who she is.  Those beautiful eyes and face like a doll?  Yep, that's a Williams characteristic.  Her ability to make anyone and everyone smile when she smiles at them - also Williams.  The fact that she is the most social baby I have ever seen, also Williams.  She may also get a special love of music and ability to see the best in people and all situations.  That's pretty cool too.
The heart thing is staying stable, so that's good.  The eye test and skeletal X-ray came back fine.  Last week we got a call that her calcium levels were way too high from a recent blood test. (we knew there was a chance of this happening)  This can be very bad, so we had to take her to ER at Royal Oak Beaumont and she was hospitalized for 5 days as they flushed the calcium out of her system.  While we didn't love this complication, God took care of us and we had wonderful friends who watched Jeremiah and took care of things so we could be with Ellie.  Now she is on a low calcium formula and we have added an endocrinologist and nephrologist to our cardiologist on her doctor list.  But it's going to be ok.  Ellie is ours for a reason and we will do everything within our power to be sure she has the best care and gets the best services.  On Thursday a nurse will come and evaluate her in 9 different areas of development to see how she's doing.  I think she's pretty remarkable, but I guess I'm biased.  If there's anything that's not developing, we'll seek therapy for that.  
So there you have it, a quick introduction to Williams Syndrome on Rare Disease Day.  Our sweet daughter has a diagnosis, and two parents that will fight and advocate for her for the rest of their lives.  Oh, and a big brother with a heart of gold that will love her and defend her.  Along with a wonderful network of family and friends for support, Eliana Jane Meyer has a great big God that made her perfectly for us and will give her a testimony that she can share about a diagnosis and how His perfect plan gave her an amazing life.  We didn't get a "special needs child," we got a gift from God name Eliana Jane.  And that's pretty special. :)