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... Continue Reading →
It has been about 10 months since we learned about the underlying cause of Emmett’s condition. I’ve talked a lot about what has gone on with him from a day-to-day perspective, but from January, we’ve also worked on understanding and researching his disorder to see if there’s any hope of improving his underlying disorder. Getting... Continue Reading →
Since we’ve been back from the NIH, it’s 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 – 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 Children’s Hospital, but the results came back inconclusive, so we’re hoping the NIH’s 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 Children’s Inn. The Children’s Inn is a place that’s offered to families with children participating in NIH research studies. They do their best to make it welcoming and cheery, and... Continue Reading →
This weekend, we leave for a week-long trip to the National Institutes of Health (NIH), a government entity responsible for biochemical and public health research. We were invited to take part in a clinical study they're conducting on Congenital Disorders of Glycosylation (CDGs). (And by invited, I mean we found out about the study and... Continue Reading →
(I'm stuck in the hospital, which means lots of posts to pass the time. 😀 So sorry!) Ever since we've been on this journey, I've sought out information and experiences, largely from online blogs, sites and social media. (Facebook has honestly been one of the greatest things in terms of getting in touch with people... Continue Reading →
This week, we’re back to UCLA Mattel Children’s Hospital to start Emmett on the ketogenic diet, which is basically a stricter/modified Atkins diet (high fat, low carbs). No one is really sure why the keto diet has been proven to show improvement in some types of medication-resistant epilepsies, but it has helped many babies/kids. It... Continue Reading →
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... Continue Reading →
