Wednesday, February 10, 2016

18 Months Old!

Aberdeen is 18 months old today! A year-and-a-half!!! So impressed with this kid. She has had a lot of extra appointments lately and has been handling them amazingly well. In the past couple of weeks she has seen the craniofacial team at TCH, neurology, pulmonology, GI and nutrition, had an EEG, and had her 18 month check today. That's in addition to speech, OT, and PT! She has another nutrition appointment and her monthly Synagis injection this week, as well as an unsedated MRI and cardiology follow-up next week. Yeesh! 

With all of these appointments, we've made a few changes here and there. We're working on transitioning Abby to a blended diet through her g-tube. This means REAL FOOD! After consulting with the nutritionist that works with GI, we've decided to start with a commercial product called Real Food Blends, but eventually may cook and blend up her food ourselves. It's going to be a slow process, but we love the idea of her getting whole-food nutrition instead of formula (since she's never tolerated formula very well). Hopefully this change will also help push Abby past the growth plateau she's hit.

From a cardiology standpoint, we're holding steady for now. We heard back with Cincinnati's opinion on her heart status, and while they noted considerable narrowing of her left ventricular outflow, they agreed with TCH's treatment plan. So, we'll keep monitoring her closely, and managing with beta-blockers, but hold off on any surgical talk for the time being.

With heart stuff being relatively uneventful right now, the pendulum has swung back to concern about Aberdeen's head. The craniofacial team definitely thinks she'll need another surgery to release the re-fused coronal sutures in Abby's skull, but nobody seems too keen on putting Abby through any sort of sedation currently (anesthesia and cardiomyopathy is tricky business). Neurology has requested imaging to make sure everything looks ok brain-wise, so we did an EEG yesterday and will attempt an MRI next week. Hoping things are looking ok on that front and we can continue putting off cranial surgery.

Abby's been doing lots of fun new things this month! She has started picking up her feet reciprocally and walking while we hold her hands! Her PT has decided it's time for ankle braces (SMOs), and we hope this will help her find her balance while standing! She has demonstrated knowledge of many new words: head, nose, mouth, ears, eyes, foot, sock, book, and ball. She's actively opening and closing her hands in response to Twinkle Twinkle Little Star (and Baa Baa Black Sheep, which makes me super proud, since they have almost the exact same melody), she's discovered and plays with her shadow, and has taken some masterful selfies!

On a broader level, this month is awareness month for Noonan Syndrome, congenital heart defects, and feeding tubes! We love inviting others into our little world of the medically complex! A few facts:

• Noonan Syndrome is variably expressed, it does not affect any two individuals identically. Some have very few medical complications, some have many. Some have intellectual delays, some have none. Some have 'characteristic' facial features, while others don't. It is diagnosed through the identification of certain genetic mutations (i.e. PTPN11, SOS1, RIT1, RAF1, KRAS, etc) or the suspicion of a yet-undiscovered genetic mutation based on presentation and symptoms.

• Congenital Heart Defects affect nearly 1 in 100 live births and there are over 40 different types of CHDs. Many CHDs require surgical correction, but even with surgery, individuals may continue to struggle with feeding issues, developmental delays, and other complications long after correction. Though treatment of CHDs is one of costliest issues facing our hospitals, research toward causes and prevention is grossly underfunded.

• Feeding Tubes are used by roughly half a million people in the United States for hundreds of different reasons such as chromosomal and genetic conditions, neurological conditions, connective tissue disorders, craniofacial conditions, diseases, heart conditions, and so on. Some feeding tubes feed directly into an individual's stomach (NG, G-tubes) while others bypass the stomach into the intestines (ND, NJ, G/J, and J-tubes). Diets for tube-fed people vary from broken-down, elemental formulas to breastmilk, to blenderized table food depending on the individual's conditions and needs.

We invite you to take a moment and light a candle tonight in memory of all of our little heart angels gone too soon.

1 comment:

  1. Thanks again for sharing another chapter of Abby's story. She is precious & I can't help but smile when I read & see her pictures..LOVE her heart warrior shirt...She truly is a WARRIOR.....Keep up the good fight, Miss Abby!!