Sorry for the delay in getting this update prepared. I was held up or 6+ weeks waiting for some lab results.
NEUROLOGY:
Originally the results of Áine’s 72 hour telemetry came back negative for seizures which seemed impossible. However after viewing some video of the events, it has been determined that the seizures have a brain stem onset which are difficult to see on a scalp EEG. A new medication has been added to her regimen. It does have a sedating effect so we are hoping she will adjust as we titrate slowly.
Áine is also experiencing events that fall under the category of autonomic phenomena -- sudden episodes of flushing, sudden episodes of pupil dilation (mydriasis), sudden episodes of pupil contraction (miosis), pallor, the inability to sweat (anhidrosis). She had an unfortunate bout of overheating a few weeks ago so this will need to be closely monitored.
ENDOCRINOLOGY:
We finally heard from the endocrinology department yesterday. Áine's test results are in and overall she is in normal range except for two areas. There is an elevation in one of the thyroid tests that they will monitor.
Her major issue is very low levels on the tests administered that measure growth factors. She will be having what's called a growth hormone stimulation test which is the gold standard for any diagnosis in this area apparently. She is scheduled for 8am on Mon 11/23 at UCLA and it's a 4 - 5 hour procedure. Results will be ready (allegedly) two weeks later. The doctors do feel she has a growth factor deficiency, but need this test to confirm. She can't eat or drink after midnight and will be given meds intravenously and have blood drawn every 30 minutes of the multiple hour procedure. They suggested I bring DVDs for her. Looks like the iPod batteries will be getting a workout :o)
GI:
This is a new component to Áine’s testing. She is being referred to UCLA for a barium swallow and some sort of scoping as a GI issue may have been overlooked all along in terms of Áine’s cessation in eating which is easy to do given all that has been going on with body of late. She has become increasingly challenged when it comes to food and even at times when drinking her bottle. She gags, vomits, and has choked twice in the past three weeks. Using her Dynavox Minimo, she has indicated now more than four times in the past month that her throat hurts. She has been put back on her specialized formula and continues to lose her hair :o(
Her barium swallow test is scheduled for Mon 11/16 at UCLA at 12:45pm. No food or drink after midnight. Hopefully a few hours at school will prove to be just the distraction she needs :o)
Orthopedics:
Áine’s leg braces were causing some fairly serious wounds and have since been adjusted. However she seems to have done something to her right leg (the unaffected one) over the past few days and cannot bear weight on it. Looks like the scheduled visit to her orthopedist on Monday came just in time.
Áine is such an amazing girl. Hopefully all these tests will bring answers. Thank you for your continuing prayers and good thoughts.
A few quick notes on the older kidlets… We are still working on getting a hearing test scheduled for Brendan who is doing wonderfully at school and everywhere else! Such a happy boy he is.
Ciara is joining big brother’s swim team starting this weekend and is looking forward to being an altar server at Mass for the first time on the 15th.
