A New Year

Happy 2018 everyone! (I know I’m late, but at least it’s still January. 😉)

At midnight (during the countdown), I sent some good thoughts into the universe for Emmett for this coming year… that his condition stabilizes, that we’re able to make meaningful progress toward a treatment, that he continues to find joy in his daily life. We already have some stuff planned for this coming year, so while we’d love some quiet time, it doesn’t look like 2018 will be the year for that!

Thank you to everyone who reached out with advice and contacts based on my last post. We were able to make sure great progress on Emmett’s initiative. In just the past couple of months, we:

(Thanks to a business school friend) Got connected to a couple people at Amgen who works with the FDA on a daily basis… they were able to put us on the right track and point us to the right FDA department.
Contacted the FDA and were able to determine our next steps.
Got a physician to agree to sponsor his FDA application (when the time comes) and to work with UCLA’s Institutional Review Board, which is one of the big hurdles in getting Emmett’s trial approved.
Connected with the president of CDG Care, a nonprofit organization dedicated “to promote greater awareness and understanding of CDG, to provide information and support to families affected by CDG, and to advocate for scientific research to advance the diagnosis and treatment of CDG.” We ended up presenting to their board of directors, and instead of starting our own nonprofit, we are going to partner with CDG Care, which we’re very excited about… more information to come!

We also started Emmett on CBD oil early December after deciding not to wait for the trial. (We decided to go this route because 1) we were having a hard time getting our questions about the trial answered and 2) we wanted to have more control over dosing. Dosing in trials tend to be quite high, which – we think – isn’t necessarily the best when it comes to CBD oil.) Once we started it, he seemed to sleep better, which made such a big difference in our lives. That came and went in the following weeks (maybe because he’s teething?) but overall, I think the CBD is helping his overall mood. We just have to figure out the right dose for him.

Next month, we’re attending a big CDG conference in San Diego, where we get to meet other CDG families and doctors from all over who specialize in CDG care. We’ve also been invited to participate in their “poster session,” where we’ll present the work we’ve done to now and discuss our plan moving forward. They also have a cool daycare designed for CDG patients so we’re planning to have Emmett there while we attend the various sessions.

In addition to all that, Emmett is getting many more therapies on a weekly basis from the Westside Regional Center. Physical therapy (which he was already getting), occupational therapy, vision therapy, infant stimulation, speech therapy. All very needed, so I’m glad to be getting those in place.

So lots of things happening, but all in a good direction. 😊 We’re still keeping a close eye on his day-to-day to make sure nothing comes up, but I know that’s often avoidable so we’ll deal with things as they come. Again, happy new year! We have high (but cautious) hopes for progress this year and will continue to keep everyone updated.