I cannot say enough good things about Children's National Medical Center.The personnel - from the doctors to the administration - are wonderful. I called the genetic counselor to set up an appointment not long after we got home from the hospital. She asked all about Maggie and how we were doing, then asked when WE wanted to come in for a visit and said she would get back to us. When she did, it was to ask about a few dates, so I picked one and then she said she would get back to me to confirm. She called back just a few days later to say that not only did she get us an appointment with the Geneticist, but also had coordinated with the Orthopedic doctor so that we could "head up" after we were done in Genetics. Both appointments were going to be at the DC location so that they would have access to the labs and x-ray machines if they wanted to do any tests that day. She apologized that we would have to drive in to DC, but thought that was the best option so that we could get everything done at once. The whole experience was mind-blowingly awesome! A hospital apologizing for my inconvenience! Someone willing to make all the calls and set up appointments around my schedule! What more could a busy parent want?! It is awesome that we can rely on the genetic counselor to help us coordinate appointments and to work with our insurance to get pre-authorization for things. Plus, everyone gives us their card and encourages us to call with any questions. They even encourage us to email or call anytime - they would rather we ask the question than to work ourselves into a frenzy or google ourselves into anxiety! We are so blessed to have such great doctors essentially right down the street!!!
So, last week we met with the Geneticist (Dr Rosenbaum) and the Orthopedic Doctor (Dr Tosi) at Children's. The genetic counselor for Dr Rosenbaum set everything up for us so that we were able to see Dr Rosenbaum and then go right up to Ortho. Both doctors agree that basically Maggie appears to be a perfectly healthy baby with "limb reduction". Dr Rosenbaum wants to do chromosome testing to see if she has SC-phocomelia, which is on the Roberts Syndrome spectrum. The spectrum is huge, so he cautioned us not to get too caught up in the language of the syndrome because even the doctors have to be careful not to generalize. For instance, Maggie has a stork bite on her nose and also her eyelids and the back of her head, which can be associated with Roberts. But she does not have a cleft palate and appears cognitively on point (she can focus on and follow keys when waved in her face). The bottom line with Genetics is - there is not much for them to do, but they do want to do the Chromosome testing and see her back in 6-8 weeks just to "chip away at the list of possibilities". The geneticist believes her limb reduction was caused by two vascular events, where the blood vessels feeding her arms were pinched or somehow affected during the critical development time period.
After genetics, we went up to Ortho, where they did x-rays of her spine, hips, arms, and hands. Her hips and spine are great. Her arms have the humerus (top half) bone in each arm, some of the bones that make up the palm, and fingers. Each hand is connected at a joint, which is good. The ortho doctor wants to see us back in 6 months for an updated x-ray, but does not see much involvement for ortho. She recommended we see a hand specialist, who thankfully is based out of fairfax (much closer to our house!). But, yesterday, there was a hand specialist at the DC location, who came in to check Maggie out. She agreed the hand doctor would probably be Maggie's primary "specialist" and gave us a hand out with some great websites to check out for resources and community support.
Maggie can just about reach her mouth with her hands now, so her biggest challenge will be toileting. The hand specialist will likely recommend physical therapy and occupational therapy. According to the Geneticist, there is a great children's therapy center just minutes away from us, which is great too! Through PT and OT, hopefully she will be able to develop her hand/finger muscles to get more use of them. Her right hand can grasp pretty well, but her left arm is significantly more under-developed. We will see what kind of program we get on with PT and then hopefully after a few months will be able to project more of the future. The hand specialist may recommend surgery to "turn" her hands - they are currently like club-hands - pointed backwards. They would also discuss prosthetic options and would be the place to get fitted for prosthesis if we choose that route. At this point, that is very far into the future as we want to develop what she has. Plus, we don't want her to become dependent on something like that when kids born with limb reduction seem to have much success with using what God gave them.
Thanks for listening!
~Erin
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