Our trip continued Thursday with clinical photography, a visit to Audiology to check his hearing, an appointment with a nutritionist to discuss his current needs and his post-Keto diet, and an attempt to check his vision with an ophthalmologist. (He screamed almost as hard at his eye exam as he did during his blood draws. So obviously, that didn’t go super smoothly.)
His hearing seems to be fine, but the ophthalmologist said there are signs of optic nerve atrophy in his eyes. So another thing to monitor. Late afternoon, we were able to chat with the principal investigator of the clinical study and ask him many of the questions we haven’t had a chance to get to. We went over some of what they know about other CDG patients, and treatments that have been discussed/explored for other genetic disorders. He was familiar with many of the people we’ve come into contact with, and added a few names of people we should get in touch with.
On Friday, Emmett got a skin biopsy done. They injected lidocaine, a numbing agent, then took a small piece of skin from his arm. That enables them to grow cells that can be used down for the line for research and other tests. It wasn’t on our original schedule, but we were glad to be able to get it done so we have his cell line accessible to us. (When they said some of their cell lines “grow quite well,” I was picturing blob-like pieces climbing the walls. Apparently that’s not the case and even when it gets “big,” you still need a microscope to see the cells.)
We had our final consultation with a genetics counselor, and spent a couple of hours wrapping up the entire week with the core team.
Then it was a mad rush to pack and head to the airport, all the while hoping the incoming storm wouldn’t get our flight cancelled. (We made it with just a short delay, thankfully!) We got home late Friday, exhausted but excited about all that we got out of the trip.
The week was, for me, both a humbling experience and a reminder of all the progress we’ve made in understanding Emmett’s condition. We have so much more learning and work to do, but the experience connected us to a network of people around the world who are at the forefront of CDG research and treatment, both doctors and families alike. When you have a child with a severe but rare condition, you sometimes feel like you’re operating on your own, but the more people we get to know, the more we feel like we can be the advocates that Emmett needs.
Of course, the “excitement” never stops, so not long after we got back, before we even got a chance to unpack, Emmett got admitted into the PICU at UCLA Mattel Children’s Hospital. He spat up a couple times and seemed to have trouble breathing, so – remembering to pack our toiletries and iPhone chargers this time – we brought him to the ER at 8 a.m. Sunday morning. They started respiratory treatments once we got to the PICU, and are continuing to run tests and complete X-rays to pinpoint the cause of his labored breathing. We’re hoping – as always – that this stay won’t be too long. Anyway, more to come! ❤ Thanks for the continued support and kind wishes!!!
We’re really happy that NIH was able to provided you guys with resources, help you build additional networks, locate support groups, and also provide you with much needed answers to your questions. No matter what, we know you two are Emmett’s #1 advocate! We hope you feel better Emmett!