Visiting Seattle Children’s Hospital

Last month, we packed up and took a trip to Seattle to see Dr. Christina Lam, who is a biochemical geneticist at the Seattle Children’s Hospital. She is also a specialist in CDGs (Congenital Disorders of Glycosylation) which we’ve found to be the broader category of where Emmett’s PIGA gene mutation falls under. CDGs are still rare at an estimated 2,000 people, but a helpful category for us given how rare Emmett’s gene mutation is (fewer than 20 documented cases).

We got in Thursday night, and went bright and early to the Children’s Hospital the next morning. For three hours, we spoke with Dr. Lam and a couple others on her team about the treatment options we were considering, other cases she knew about (PIGA or just other CDGs), various avenues parents have explored for treatment, clinical trials that had been done, etc. She and her team had obviously spent some time reviewing Emmett’s history, and was able to suggest others we should get in contact.

After meeting with Dr. Lam, we took Emmett to get his blood drawn so she could conduct a flow cytometry test, which is a technology that is used to analyze the physical and chemical characteristics of cells. It’s the closest technology available for us to determine how his PIGA gene is actually functioning. (She also requested we do a urine test, but it’s hard to get a baby to pee on command, so that task was abandoned after three hours of walking around the hospital aimlessly.)

Post blood draw, which is never fun for him (or anyone)

In the hospital’s courtyard waiting for him to pee =/

All in all, a worthwhile trip. We were able to sneak in a sushi dinner (with one of Steve’s college friends) and a trip to the Starbucks Roastery before we left. But the weather was great and the flights were smooth. What more could we ask for?

Sorry Emmet, just a quick stop, we promise!

Leaving Seattle, based on Dr. Lam’s input, we decided to keep Emmett on pyridoxine (Vitamin B6) until we could start him on the ketogenic diet. We also decided to hold off on a couple untested treatments we were contemplating until we could get more information. Treatments are tricky when it comes to rare disorders, we’ve found. Lots of difficult trial and error, cautious hope and logistics to coordinate. I’ve been meaning to detail all the different treatments we’ve tried and what we’re planning for the future, so look for that soon!