When the baby was about a month old, we started up with the specialist appointments. We are lucky enough to live within a relatively short driving distance from Children's National Medical Center in DC. When the radiologist first discovered there was an issue, we were sent to CNMC and saw the top geneticist. Thankfully, we were able to get in to see him again so soon after her birth. What amazes me the most about Children's is how accommodating they are. The drive is maybe an hour to an hour and a half from our house, yet they always try and cram as much in as they can so you do not feel like you wasted the day!
In February, we went for the day - we saw the geneticist, the orthopedic doctor, and had X-Rays and bloodwork done. The ortho doc indicated we should come back in about 6 months to see her, but that the baby's primary specialist will be the Hand Specialist (who, thankfully, works closer to our house!!!). We went back for a visit to the geneticist around 3 months and coincidentally happened to be there on a Friday, which is the day the neuro developmental specialist is on a rotation with the geneticist, so we got a two for one in that office (except not really because they billed us for the co-pay after the visit). What they did not bill us for was the time the geneticist took with not only the baby, but with all of the kids. He did a thorough exam of the baby, but also talked to and looked at the other kids. He asked about the munchkin's "short stature" and asked to be copied on her CNMC reports. He told us to bring the other kids to all the visits. He just genuinely cares. And that is freaking amazing!!!
Fast forward another few months and we are back - around 6 months. The geneticist wants us to get a sonogram of her sacral dimple, but says it can wait a few weeks for when we come in for the ortho appointment - unfortunately, that time we could not do it all at once. We saw the development doc again and she had presents for the older girls :) The bloodwork came back normal, there are no "puffs" around her chormosomes suggesting Roberts Syndrome (this was a bit of a stretch as they only "symptom" she has is the phocomelia). In 5 or 10 years genetic testing will become more advanced and we will have more bloodwork and tests. But, for now, things are what they are and we do not have a label or a roadmap. We will just let the baby develop, work with the OTs and see what services she requires. In the meantime, there is no need for these frequent visits, so we are done with genetics until her first birthday!
A few weeks later we were back for the ortho appointment and to get updated x-rays. This one was tough - getting up early with all the kids in tow, driving downtown in rushour traffic, which of course included multiple accidents. The ortho doc came in, looked over the baby for all of 60 seconds, said "I still stand by what I said before, the hand specialist will be her primary specialist. No need for me to get X-rays". I thought my head might have exploded because hello, I did not take the morning off work to do this!!! Thankfully, she quickly followed up with, "it just so happens today is the day the hand specialist works from the DC location, let me track down her assistant." From there, it was a bit of a whirlwind. I ended up taking the whole day off, but once again, it was so worth it because CNMC is so great!!!
We got x-rays, we got a sonogram of the sacral dimple, we got more bloodwork done (for a deeper chromosomal analysis), the Hand Specialist fit us in for a visit with her, and we got a prescription for OT outside of the county provided services with a list of recommendations. And, we don't have to go back until the baby is about a year old! It was more than worth the trip. And the older kids were rewarded for their awesomeness by the staff of young adults that came into each waiting room with a cart full of games, arts and crafts, and coloring stuff. The girls played Candy Land, made bracelets, and colored pictures. They walk away with stickers and see the whole experience as fun.
I cannot say enough how blessed I feel to be a part of the CNMC family. These doctors, these administrators, they care - really, truly, care about the kids, about your role as a parent, about their job. It is a wonderful thing to feel so cared for when you are dealing with the unknowns of a special needs child!
Thanks for listening!