So, I've had several people ask over the past few months about Cohen's diagnosis and I'm finally getting around to writing about it.
Cohen's blood tests came back negative for Thanatophoric Dysplasia. They are still going with the diagnosis they came up with in the NICU - Odontochondrodysplasia. There is not blood test for this so his diagnosis is just clinical. The Geneticist here and the ones over in Germany feel fairly confident that this is what Cohen has. It is a form of dwarfism characterized by:
* short arms and legs
* bowing of the long bones
* small ribs and therefore small lungs
* possible development of scoliosis that requires surgery
* normal facial structure
* flat vertebrae that have delayed ossification
* soft and sometimes discolored teeth causing dental issues
* delayed physical development
* typical mental development
Some have asked why this wasn't a dysplasia that they threw out as a possibility when I was pregnant with Cohen. The biggest reason is because it is just VERY rare. It was only recently identified as it's own classification of dysplasias. Cohen is currently the only known case in the US and only like the 15th or so known case in the world. They do believe that is probably under identified but still...
The life expectancy is good for the most part - there have been a few children( of the few they know about)that have died later in life due to respiratory insufficiency. It is also most likely that other babies are born with this but do die at birth due to chest size and either are identified as an unknown skeletal dysplasia or misidentified. The oldest known case is in her upper teens. On another down side, there are also sibling pairs among the few identified making it most likely that this is a recessive genetic disorder - meaning hereditary. ( I have lots of jumbled thoughts and feelings about this but that's a post for another day)
Here's the thing - we don't put a lot of stock into this diagnosis. Not because we don't think it's what he has but in a sense it doesn't effect us that much for several reasons. One, it is so rare, that there is VERY LITTLE info about it and there certainly hasn't been enough identified children with it to really get a good idea of what the future holds or what type of medical care he needs. Two, we're waiting on a few things like his teeth to come in and some older xrays to be sure that he continues to match this diagnosis as he grows.
It is very strange to have a diagnosis that doesn't tell us much. I struggle not having anyone to relate with - having worked in the special needs I am so use to the idea of having lots of info about disorders and connecting with other people going through the exact same thing. It is scary to me that we don't know "the best coarse of action" to take with Cohen.
Now, on the flip side. I LOVE that no one can put Cohen in a box. There is no set path for him to take. He is not defined by his disorder. ( i believe this to be true of all children but society tends to differ) To us, our son does have a form of dwarfism. This is something that we and he will deal with for the rest of his life. But above all - he is God's child. He is my son. He is a miracle. He is Cohen.
I also want to be very clear about our perception of what happen the day that Cohen was born. It is clear that there was a misdiagnoses. Cohen does not have thanatophoric dysplasia. Some have responded to this as if it means this was a simple case of medical misdiagnoses. To us, this is simply not true. Now, I do not pretend for a minute to really be able to explain what God did on March 5, 2008 - but his much I know... God breathed life into Cohen where there should have been no life. We did not have an amnio to determine Cohen having Thanatophoric dysplasia for 2 main reasons:
1) we didn't want to risk miscarriage when there would be in utero treatment nor would it change our decision about carrying him
2) The reason Cohen was not suppose to live was not because he had Thanatophoric dysplasia - it was because his ribs were too small - there is a ratio they use to determine compatibility with life that has a 95% accuracy rate in utero - the number should be .16 or higher - Cohen's was .08 in every single ultrasound.
They were certain, regardless of diagnosis, that Cohen would not be able to live. We were certain to love this little boy with all we had while I carried him - to get to know him as much as possible. We were certain to enjoy every second God gave us with him even when we couldn't see him yet. We were certain that God was in control. We were certain that God was and would be enough to carry us through our pain and fears. We were certain that God could heal our son. We are certain that God gave life to Cohen.
We stand on the other side now, uncertain of where God is taking us - uncertain of what purpose the rest of our lives hold - uncertain sometimes at our thoughts and emotions -there is sometimes still fear and pain. But we stand certain of our Father's mercy, grace, love, and power. We know that trusting in Him is exactly where we need to be now - pray for us that we can do that. It is interesting and frustrating to me that after having gone through what we went through I would ever struggle with trusting God but here's the thing - when we were pregnant we really had no choice because there was nothing else we could do but trust Him - now on the other side a little more "control" is placed in my hands and I don't want to give it over. Arghhh - I remember saying when I was pregnant with Cohen that one of my biggest fears was that on the other side I wouldn't be changed enough. I use to pray about that - that God would move in me in a way that I would never forget - I continue to pray that now - I pray that for people who have been touched by Cohen's life but I also pray that for me - that i would always give God the glory - that I would always recognize that Cohen and Cort are both God's children first - and that I will take joy in every day they are lent to us.... that I would never be the same as I was yesterday.
