Okay, So I'm finally getting around to posting about our trip to Delaware. I can't say that we really knew what to expect both from the long travels with a one and a half year old( isn't that crazy?) and from the doctors but we were excited to go and thankful for the opportunity.
I need to share a bit of background that I haven't made public on the blog yet. We booked these appointments back when Cohen had just turned one and were operating on the diagnosis of
odontochondrodysplasia simply because we wanted to see doctors who had experience with skeletal
dysplasia to make sure that we weren't missing something crucial in our medical care with Cohen. This summer we amazingly got word that the geneticist in Germany had found and isolated the gene/mutation for
odontochondrodysplasia (something we didn't expect any time in the near future if at all!!) and that they could NOT find the mutation in Cohen's DNA. This didn't come as a total surprise to us....we were never 100% sure of the
diagnosis and his four pearly white teeth weren't quite fitting the
odonto part as "nicely" as they thought they would.
How did we feel about not having a specific classification? Well, like I said, not surprised. Not really all that bothered...I care about it simply for information in caring for him, not for something to call it....we just call him Cohen. I won't say it isn't hard to not have some type of "map" and I do worry that we aren't aware of something that we need to be but we're doing our best to check everything out and trusting God with it all.
In Delaware, we saw an orthopedic doctor and a geneticist. There was also a doctor there from Brazil( who happened to be a LP too) who came to all our appointments with us. So it was great to get another opinion too! The orthopedic doctor took new
xrays and even did some in positions that we hadn't had done yet. The two main things we learned from this appointment that was a little different than what we went in knowing was that his back is not all curved as far as his spine and bones are concerned and then curving we see when he sits is just positional and more muscle tone issues. This was great news both to just know and to know not to allow for any bracing right now. Second, was that he didn't feel like there was any need for bracing or surgeries anywhere anytime soon - this wasn't necessarily really different from what we were being told here but there had been some talk of it for the near future. He said that he saw no reason structurally for Cohen not to walk without interventions once he's ready. As far as bracing and surgeries in the future, we just have to wait and see. They were surprised at his small chest size and we did talk some about his restriction. They said it was smaller in person than they were expecting based on
xrays.
The most surprising thing to us was about how is femur is actually bowed. Due to proper
positioning in
xrays, they told us that his femur is actually bowed backwards( the curve goes to the back of his leg). This was really interesting to them because they said they have personally never seen a child with bowing in that direction( leave it to Cohen, right?)
In talking with our geneticist and after a very thorough history and examination, we got down to the business of medical care and
diagnosis( or rather, classification).
I'll try to make this as
succinct as possible and if anyone has more questions feel free to shoot me an email!! So, there are hundreds of types of skeletal
dysplaisas..under that there are categories mainly based on what parts of the
skeletal system is effected...and then within those categories there are specific classifications(
ie.
achondroplaysia,
odontochondrodysplasia, etc..).
Odontochondrodyplasia is in the
SMD category. This means that the spine,
metaphysis(end of the bones) and
diaphysis(long part of the bone) is effected. Well, the doctors there feel like Cohen has a
SEMD type. Where all of the above are effected and so are the
epiphyses( the bone above the growth plate). He feels like Cohen's are actually enlarged.
Epiphyses aren't ossified at birth so this isn't something they would have seen at birth.
So what does all that mean? They are fairly certain that Cohen does not have any type of dwarfism that has already been classified. Again, not really a shocker to us!! They will review other cases they have info on and see if they can find anything that matches up in places but that's not something that will most likely happen. This info. does at least give us a new starting place and at least some direction in figuring things out for Cohen medically. I haven't done as much research as I plan to on the types of dwarfism that fall into this category yet.
As far as medical treatment goes, we were pleased that really we had done all the testing and
surveillance that we needed to so far. There were two things that he wanted further information on and we're working on( though I'm not having as much luck as quickly as I'd like) getting those things up there. He wants to see his MRI and sleep study in full to check for neck stability issues. Even thought this is why we did the MRI and it came back clear ( as do his
xrays) he said that central sleep apnea can be the only symptom and since Cohen is having some, he wants to see how mild is and just look at everything with his own trained eye.
He also wants us to watch his hearing and vision a little more closely due to collagen issues( this is common). We already see the eye doctor regularly enough but need to do hearing checks more often. We see the
ENT in a few weeks so we'll get that set up. They also
concurred that odd behavior we have been concerned might be seizures could just be his reflux. He was also able to tell us of some doctors that after one more clear check, we can discontinue!! ( woo,
hoo!!!)
A little bit more info for fellow LP parents if your interested....
Cohen has more pronounced
mesomelia shortening in his arms and
rhizo in his legs. His feet and hands are much more typical size that than his arms and legs and his toes and fingers are very long. His head is little bit larger in percentiles than his weight and length but not by much. He is only about 25 inches long(maybe only 24.5) at 20 months old and weighs about 14.5 lbs. His skin is softer than typical for his age. There is some debate about his facial structure but overall he is considered to have "normal" face structure. He sits, rolls over, scoots backwards on his belly, turns while sitting, and stands supported at a toy or
funiture, etc. He has normal range
kyphosis and a little underdeveloped
lordosis(in both places)
We will continue to follow up with the doctors there. Most likely, we'll go yearly(
ish) and communicate with them about what's going on with our doctors here in the meantime.
We didn't go expecting all the answers and are very satisfied with our visit. They were so thorough both in exam and in explaining things to us. And while, our doctors here really have been great, it was so nice to feel very confident in things we were being told and in getting confirmation that we're doing the right things.
We had a good trip as far as travels go. We stopped part way going and coming in Raleigh, NC and visited with family on the way up( getting to see Chris' sister new house) and friends( who are back in the US after living in Singapore for two years) on the way back.
Cohen actually slept in the car
everytime we drove - this was a HUGE praise as he never naps in the car.
We were able to stay at the Ronald McDonald House for our stay, which was another HUGE blessing both financially and just because it was a really great experience.
We met some new friends, Matt and Ashley, who follow our blog but that are also family of some friends of ours. We all went to the same college as well and we had at least met Matt briefly in college. We arrived in Delaware to a nice
homecooked meal. It was really nice to do something social up there in an unfamiliar place and it was such a pleasure to meet them. Thanks Matt and Ashley!!
We also, with some more help and guidance from Matt(thanks again), went into Philadelphia for a few hours one afternoon and did a quick run through of all the historical stuff in liberty square.
