diagnosis confirmed

For the past 5 months we have been on a journey with Adam.  From the time my little man was born he was small, well not his weight, but his height.  He started off in the 25% and gradually went down to the 3-5% from there.  I knew from the very beginning, actually while in utero, that something was different.  I saw his little legs on the sonogram and noticed his measurements, but no one seemed to see any cause for concern.  When he was born his legs were so short, but otherwise seemed "normal".  I asked his pedi every visit about his height, but he wasn't too concerned until his 18 mo check up in August.  He started to plateau on the growth chart, and was no longer on the curve.  Now his pedi was concerned enough to send us to the endocrinologist,  who totally freaked me out, and then sent us to a specialist.  The specialist visit eased some of my fears and did some tests-bone scan, bone age, and DNA testing to look for a mutation in a specific gene. 

Today, 5 weeks later, I get a phone call from the genetic counselor.  The genes they were looking at came back normal-no mutation, but the xrays/bone scans were sent to Cedars Sinai hospital in California where they specialize in bone disorders.  The specialist there did agree with the diagnosis of hypochondroplasia, which is a bone disorder that affects the growth of the long bones in the arms and legs.  What this means is that Adam will be small, like me.  He will develop normally except that his arms and legs will be of disproportionate size/length compared to his body. 

Although I have always know that he was different as far as his size goes, it is hard to think about all the challenges he will face.  As a child, I was always the shortest in my class, but it didn't really bother me because I am a girl, and being small is acceptable for females.  Not so much for males.  I just hope that he will continue to keep his happy little personality and not allow these things to interfere with his life.  I will always feel a little heartbroken for him, but will never allow him to see this.  No matter, he is perfect just the was he is!

Our next steps are to continue to see the doctors on a regular basis to follow up on his growth, have bone scans/xrays every couple of years, and live our lives as we normally would.  Ava is next in the process because she is small as well, and then me.  I know that I am the carrier of this disorder.  My parents are both average/tall-dad 5'11-6'0, mom 5'8, brother 6'0, and me 4'10--quite the discrepancy.  If we choose to have more children they have a 50/50 chance of inheriting this disorder as well.  Another thing to think about, but we will cross that bridge soon enough. 

No matter what, I know that we are blessed to have beautiful, healthy children (and I wouldn't trade that for the world!)  They are just packaged a little differently!