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.
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.