January 4: Orthopedics - nothing new. Wants her feet / ankles to be stretched more because he feels she is is too tight in that area.
January 11: ENT - still amazed she has been adhering to her CPAP use for so long. Also impressed that she hasn't had any hospital admissions for infections (KNOCK on wood!) He said that basically at any point now, we could request him to schedule the repair of her right sided choanal atresia. This will be our task to "research" at this year's CHARGE Syndrome conference - how many people have single sided choanal atresia. Then we will find out which ones have gotten it repaired, what the complications were, when they did it, and whether it helped them eat, breathe and coordinate.
February 3: GI - Dr was eager to finish diagnosing Alexis' needs with more testing. Final test that we needed to do was a glucose test which would help identify if she had GI issues. See follow up at bottom of the page.
February 14: Genetics - Dr offered for Alexis to be tested with more in depth genetic / genome testing available at Children's Hospital because of $25M donation from Manton Foundation to study rare diseases. Since we joke that Alexis has her own syndrome, I suppose that is rare enough and interesting enough for them.
February 25: GI Glucose Test: Alexis FAILED a test. They called it. What did they have to call? Well, basically she was NPO (no food) and so they got her an IV, gave her a bolus of sugar water and watched her blood glucose every 30minutes. So, Alexis ended up spiking to 200 (which is really bad). They halted the study and told her to behave herself. :-) In all seriousness, they were very scared for her. The GI doctor was paged and they decided to stop the testing. Matt fed her her normal g-tube food and Alexis' blood glucose returned to normal range.
So, this means we have a new diagnosis. It's got a great name: DUMPING SYNDROME
Gastric dumping syndrome, or rapid gastric emptying is a condition where ingested foods bypass the stomach too rapidly and enter the small intestine largely undigested. "Early" dumping begins concurrently or immediately succeeding a meal. Symptoms of early dumping include nausea, vomiting, bloating, cramping, diarrhea, dizziness and fatigue. "Late" dumping happens 1 to 3 hours after eating. Symptoms of late dumping include weakness, sweating, and dizziness.
My understanding is Alexis needs slow releasing carbs to keep her glucose in balance and needs to avoid SUGAR products. This obviously impacts her diet greatly, given that Alexis actually enjoys sugar. We will have to find natural sweeteners that don't "undo" the effect of her good diet changes.
This probably explains many of Alexis' high energy and low energy periods throughout the day - truly blood glucose working against her. We are working with her Nutritionist to see what we can resolve by changing her diet.
Naturally we're not thrilled to add to the list of diagnoses, but obviously thrilled to make sure Alexis has a safe lifestyle. The sugar highs were obviously quite dangerous.
March 1: Annual physical with local pediatrician. A good appointment. I was in Seattle, but Matt handled everything quite well - including shots!
March 8: Eye Doctor - who thought Alexis' glasses prescription are actually a little too strong! Fantastic news! Alexis hated the appointment because they dialated her eyes and she hates hates hates that. Matt did a fantastic job at that appointment as well!
March 21: Nutrition to discuss Alexis' diet changes, Modified Barium Swallow test to identify if she still aspirates liquids
May 18: Cardiology follow-up from her Heart Repair (June 2010)
May 25: Augmentative Communication Program (Children's Hospital)