:School:
Where do I begin with the updates?? How about with the fun stuff! Maryelle started SCHOOL this week!Her IEP with the Middleton School District is in place and she is attending the early childhood intervention (special ed) program on Monday, Wednesday and Friday afternoon for two hours.
She was soooo thrilled to ride the bus like her siblings do! She's excited to go and excited when she gets home. Here's to hoping she keeps that attitude!ha
:Gene Codes:
On Tuesday, we met with our geneticist for a follow up consult about the
results of M's genetic testing. Long story short- no big new news. Which at this point, we just keep hoping for no new news! Maryelle's gene coding error
is typical of CHARGE syndrome. There were lots of specific numbers and gene sequencing/coding information, but it all comes down to the fact that there was a coding error in the gene that was necessary for proper inutero development. Hence, birth defects. We've already done all of the testing for the potential defects; other than
cognition. The Dr talked more about that. Her progression is very slow and she exhibits behaviors
that are likely due to cognitive delay rather than developmental. We meet with
Waisman developmental specialist on March 30th. That will begin the process of assessing and watching her cognitive progress. But really, only time will tell and we continue to pray for healing.
One added thing we found out is that Charge kids can have endocrine system problems (hormones). She seems to be growing appropriately so they're not concerned now, but we'll need to monitor her down the road for hormones not being adequate for puberty.
So I was thankful for no big new news and pretty much
trying to just not think too much about the cognitive piece. We're doing all all we can
right now and we'll keep focusing on that!
Wednesday morning, Maryelle had an echocardiogram and EKG then saw
the cardiologist. She had two different holes in her heart (birth defects) that were repaired well in China. They found a small amount of leakage of the mitral
valve (which separates the left atrium from left ventricle). Not of big concern
now, but will be something that is monitored for change.
M also has a lower heart rate which is a bit concerning. This could be connected
with her thyroid/hormone levels or an issue with her heart's electrical system. We
will have a blood draw to check hormones (which also will answer the geneticists endocrine concern). The Dr also recommended that M wear a 24hr heart monitor
to give us insight into how her electrical system is controlling her heart rate in various scenarios. We'll probably tackle the blood draw and heart monitor in a few weeks once she's had a little more time adjusting to her hearing aids and school.
:Ophthalmology:
The Dr said that with glasses she has gained a little bit of function in the eye with the defect. She can't get better eyesight in that eye, but right now the brain is mainly relying on the good eye and he thinks that we can engage the bad eye to get more function or use out of it. So we'll be putting drops in the good eye each day that
will penalize the function of that eye so she's forced to put the bad eye into
use. We'll also try patching a little in the evenings and see how that goes. As you can imagine, the first attempts with drops has not gone well, but we're happy with the news that the eye isn't getting worse!
