We have a diagnosis

This morning was a bit rough. Zachary and I were at the hospital at 8am for his CT scan. He was such a trooper! He did so good and made lots of friends. He impressed everyone with how still he was. We then headed over to the Geneticist appointment.

A stomach bug had hit our house on Friday starting with Zachary, then Jonathan, me and now Jason. None of us are 100% but to see Zachary smiling again and Jonathan not sitting still is a good sign. I was afraid Z would start puking at his appointment. We first met with the Genetics Counselor and reviewed some family history and why I suspected Noonan Syndrome. As soon as the doctor walked in she began showing me pictures of kids with NS and confirmed the characteristics that I felt Z had...droopy eyelids, low set ears, blue eyes and then she added in several more which I hadn't heard of. She asked what prompted me to think he had NS and I told her about the link to JMML and how a friend pointed out his facial features to me ( her sister has NS). She confirmed what I suspected...Zachary has NS.

Obviously he did not meet all the characteristics but he had so many of them. She took lots of measurements and our little Z sat very patiently and smiled at her. He reached for a picture of her daughter that she wore on her badge and tried to kiss it. He is such a lovey.

My friend showed me this:

What is the association between JMML and Noonan syndrome?In rare cases, infants with Noonan Syndrome develop a JMML-like disorder. Noonan syndrome is characterized by distinct facial features, growth retardation, and heart anomalies. Notably, the JMML-like disorder in patients with Noonan syndrome often resolves without aggressive treatment by the time the child turns one year of age.

Could this seriously be the cause of everything my guy went through last year? Wow!

So where do we go from here? Well as I sat in the office taking it all in, calming Z and trying to think of questions and just wrap my head around all this she rattled off some stuff about genetics testing and ultrasounds. We were sent down for a blood count, coagulation test, spine xray and lung xray. She agreed with me that his spine is for sure bowing out and she wants it looked at. We will then get an echocardiogram, ekg, abdominal ultrasound and kidney ultrasound. She was concerned at how his belly was "puffy". He will also see an eye doctor, have a hearing test and be referred to Early Intervention for physical and occupational therapy. Once she gets all his test results, we will meet with her again. She was wonderful. See why my head was spinning? Thank goodness the nurse wrote it all down for me.

We went to have his xray's done and would you believe this kid was still for the techs? I am so amazed! They were very impressed too! And when he had his blood drawn he sat on my lap and didn't flinch! He cried b/c he didn't like his arm being held down and I'm sure it did sting a bit.

The Dr. recharted him on an NS chart and he was in the 75% for weight and head circumfrence and I think 80% for weight. He will now be charted on an NS chart and at least he makes it on the chart there! On a "normal" chart he is like 5% for weight and head. Poor buddy. So this explains why my Peanut is just that...a Peanut!

Its a lot for me to take in but I feel good about this. I know he is going to get excellent care and NS is so much better than JMML!!! He doesn't seem to have the heart condition that goes with NS so I am optimistic about this. I'm still a bit sad that my baby has a "syndrome" of any type. No one wants their child to have to live with any chronic condition but I'm sure as I get use to it, it will just become part of our life and we will do what we have to do for Z.