We met Clement Chow at the CDG Conference we attended at the end of February, and a project grew out of our conversations. đ Read more about the project the Chow Lab started for us on their blog! http://www.chowlab.org/blog-native/2018/4/6/wtdc3kqe1j8ezo4mfeems53q2of2b7
Next week, Emmett turns two. I still remember the day Emmett was born. I went in for a routine doctorâs visit at 38 weeks, 3 days, but the doctor thought he mayâve seen meconium in my amniotic fluid, so recommended I have my c-section that very day. âAre you ready to have the baby today?â... Continue Reading →
Last Thursday, we packed up what felt like all our earthly belongings and headed down the coast to San Diego for the 2018 SBP Rare Disease Day Symposium and CDG Family Conference. (I say that because our car was packed to the brim with all of Emmett's stuff, and he comes with A LOT of... Continue Reading →
In addition to Emmettâs more health-threatening symptoms, he also has Cortical Visual Impairment (CVI). CVI is a little different from other visual impairments because the issues arenât really caused by physical problems. Instead, thereâs an issue with how the brain communicates with the eyes. So as Little Bear Sees explains, the eyes can physically see,... Continue Reading →
Happy 2018 everyone! (I know Iâm late, but at least itâs still January. đ) At midnight (during the countdown), I sent some good thoughts into the universe for Emmett for this coming year⌠that his condition stabilizes, that weâre able to make meaningful progress toward a treatment, that he continues to find joy in his... Continue Reading →
It has been about 10 months since we learned about the underlying cause of Emmettâs condition. Iâve talked a lot about what has gone on with him from a day-to-day perspective, but from January, weâve also worked on understanding and researching his disorder to see if thereâs any hope of improving his underlying disorder. Getting... Continue Reading →
Since weâve been back from the NIH, itâs been an endless cycle of hospitalizations. First for six days in the Pediatric ICU once we got home for respiratory distress. After that stay, we received an array of large respiratory machines so we could give him twice daily treatments at home. A vest designed to shake... Continue Reading →
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.... Continue Reading →
We started off the day yesterday with another blood draw â this one for something called a flow cytometry test they only process once a week. (We did a flow cytometry test when we went to Seattle Childrenâs Hospital, but the results came back inconclusive, so weâre hoping the NIHâs ability to process the blood... Continue Reading →
We arrived on Saturday after a pretty uneventful (in the best way) flight and checked into our housing for the week, which is called the Childrenâs Inn. The Childrenâs Inn is a place thatâs offered to families with children participating in NIH research studies. They do their best to make it welcoming and cheery, and... Continue Reading →
Life by Emmett 