Wednesday, August 17, 2011

Our boy

I don't talk much about our kids health as I have said before, but we are in the middle of some stuff with out little guy and I figured I would detail it out here just in case someone else comes across this and it rings any bells.  So here is what is happening with our little Finn.

Finn was seen by the genetics team at Children's Hospital yesterday as he has three distinct heart defects and is not growing properly.  They determined he does not have Williams Syndrome which is the chromosomal defect most often related to his specific heart defects.  They determined this based on his physical appearance and that he did not have the traits of a child with Williams.

Here is his history:
In utero-normal growth, normal fetal echocardiogram, Chroid Plexus Cyst in brain found and then resolved by 25 weeks gestation

At birth-Finn was a normal size for 39 weeks gestation, 8 lbs 7 ozs and 19 inches long

Since birth:
Finn was checked for hip dysplasia, his hip "clicks" when manipulated-x-ray did not show any malformation

Finn experienced an "episode" of either a seizure or passing out-blood sugar when checked was very low, subsequent blood tests did not show anything alarming or out of the ordinary

Finn was seen by two cardiologists, he has SVAS-supravalvular aortic stenosis (I have this as well), bilateral arterial pulmonary stenosis and a leaky aortic valve.  He is being followed by cardiology to see how the defects change during his growth.

Finn is hitting most of his milestones, but not always on time or slightly delayed.  At 8 months 3 weeks he can sit, army crawl, palm items and pass them back and forth.  He can bear weight on his legs.  He is not very good at grasping with his finger and thumb, he does not pull up and cannot when we try to show him, he does not crawl with his belly up, he can not get to sitting, he does not wave but will reach for me and cries when I leave the room or put him down.  He does not babble, no consonants, but makes vowel sounds (ahhh, ooooo), he does not seem to recognize his name or when we say no.

He has not grown at all in the last 2 1/2 months, he has been stuck at 17 lbs and 27 inches this whole time which puts him close to the 10% for height and weight, although he eats a lot still nursing every 2-3 hours at night and eating a lot of solid food.  He cannot eat chunkier solids, like small pieces of banana or cheerios because he will gag, but he has a hearty appetite otherwise.

He is a very poor sleeper, naps OK but up many times during the night to eat.

He is "floppy" and the geneticist says he is "doughy" and his skin and muscles are very soft and he has low muscle tone. They also stated that he has hyper mobility and is very flexible.

Finn is a very happy baby most of the time, he smiles a lot and likes to be held, but he seems like a much younger baby not only due to size.

The genetics team suspects some sort of elastin issue and believe it may be genetic and will be testing me first to see if I have it.  If I do, we will then see how Finn is doing and proceed from there with either more testing and/or therapies.  If I do not have an elastin issue, they will then begin screening him for different genetic and chromosomal defects.

As a mom, my main concern is development and growth.  We are not sure why he is not growing when he eats so much, and he is very different than the other four kids who hit all miles stones on time and never fell below 50% for height (most are closer to 75%)

I am beyond frustrated.  I understand that the genetics team needs to do things one step at a time, and that they need to watch him to see how he grows and develops, but it is hard for someone who is a control freak to have to sit and wait.  Regardless of what is going on, we will do whatever it takes to figure things out for Finn, but if you have experience with any of this and want to share, we would appreciate it.


Anonymous said...

I'm sorry. Nothing is worse than a sick child. I am currently being worked up for connective tissue issues by a genetist at Johns Hopkins. Some similar traits, but connective tissue disorders can manifest themselves in so many unique ways. Check out Ehlers-Danlos Syndrome or Marfan and see if it fits. It's a hard process and I respect your tenacity to find an answer!

Tribe Mama said...

Thanks Anon, and I am sorry that you are going through testing too, it is so hard to be patient and wait for results. Hoping for a quick diagnosis for you! We are pretty sure it is not Marfan, he is actually really small-closing in on 10% percentile and falling and his cardiologist said his defects are not the ones associated with Marfan. Ehlers-Danlos is what I am thinking they may be looking towards. He is not classic to any of the six main groups, but he is flexible, low muscle tone and he has that velvety skin. His heart conditions are also not classic for E-D, BUT familial SVAS would make sense since I have it. Ugh...confused, but thanks for the ideas, I really appreciate it!

Anonymous said...

have you heard of Mitochondrial disease? Some of his symptoms sound similar to the children in other blogs I read.

Tribe Mama said...

Anon-I had not heard of mitochondrial disease. I looked at the info and some of it is a good fit. I will definitely keep it in mind to discuss with his doctors should the testing not show the elastin deficiency they are suspecting. Thanks so much, it really helps to have other avenues I have not explored.