We have been anticipating this visit for quite some time. Dr Cohn is well known in the Hypotonic child circles as the Dr to go to when a diagnosis alludes you. He runs the quite newly formed Hypotonia Clinic in Johns Hopkins Hospital in Baltimore. We have been putting off the visit for a while as I felt our local geneticist had been very thorough with Ryan's testing but felt recently now was the time to look further afield. I booked a few days off work and John, Ryan and I made the long car journey to Baltimore.
Having fun in the hotel before the appointment
A little cold at the harbor. We stayed in a hotel right near Baltimore's beautiful harbor and within short driving distance to the hospital
Killing time in the reception area with Daddy
Finally it was time to meet Dr Cohn and his team. First thing he asked was does Ryan always move around when sitting, not sure what he meant but he seemed to think it was important. I just always thought he did that as the hypotonia makes it hard for him to keep his balance without adjusting. He then removed Ryan's socks and said he wanted to take a look at his feet. We also went over Ryan's long medical / developmental history. Not much of a surprise but he didn't have very many new ideas, nothing was jumping out at him. He said our own geneticist had been very thorough (which i knew) and had tested already for many of the same things he would think of when looking at Ryan. he did think that Mitochondrial Disorders would still be a possibility if Ryan continued to have the medical involvement or God forbid had a regression. He disagreed with Ryan's neurologist that a new MRI was not needed and also gave us a script for a spinal tap for cerebral folate deficiency. He is testing for a few other very unlikely suspects eg CDG and we called it a day. He felt Ryan was indeed much more cognitively ahead that his testing showed, very alert and really puzzling doe to the fact he has absolutely no speech. He advised us to make sure they keep pushing him in school and to try to get him into an inclusion classroom as soon as its possible. He was very lovely in the fact he said he would write whatever letters needed to the school board to insure this happens.
The last thing he did mention before we left was that in the next year or so exome sequencing will become clinically available at Johns Hopkins and Ryan would be a great candidate for that.
After the appointment we met up with a lady Katia and her son Connor who live quite close to Baltimore for some fun at the aquarium. I met Katia on one of the hypotonia boards when Ryan was still very very young. We struck up a bond as our sons are very similar age and on quite similar developmental journeys. Its was so nice to finally meet her in real life and get to know her beautiful boy.
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