Elinor:
Ellsies got fitted last week with splints for her thumbs. They are worn
all the time, not including baths and eating. They keep her little
thumbs out so she doesn't keep them in like she does and scratch them
and all that bad stuff. If they do their job, they should train her
brain not to do that and make them used to being out and have her hands
eventually work like normal little hands should. She has really gotten
good at adapting to no thumbs and holding stuff with them in and that is
no good, we would much rather her use her hands like humans, as opposed
to apes. They don't seem to even phase her, she is just fine with them
on (of course she is, given the tolerant little thing that she is), and
we are noticing that she really doesn't do the hand flapping with them
on. She relaxes them a lot more. Once I take them off however, she has
a hand flapping party, but it's only been a couple days, so I would
love to see that stop too. Wouldn't that be awesome? We are surprised
that she stops the behavior with them on though. Didn't think it would
be that dramatic, but it seems to be right now. So we are encouraged.
We are heading to Primary Children's tomorrow, going to an appointment/
meeting with her doctors. Dr. Carey arranged a meeting with us,
himself, Dr. Filloux (her neurologist), and I think some interns, etc.
where we are going to go back to square one with her diagnoses. He told
us on the phone that it isn't really that strange if she has Angelman's
that we haven't picked it up on the tests yet, (I assume this is
because since she only has about 20% of the symptoms, it isn't a stretch
that she would be in the lesser 20% cases that aren't picked up by the
tests he has run thus far. He listened to Rob tell him his concerns
about her symptoms and things we feel she has lost and digressed in and
he mentioned that it could possibly be something biochemical. I googled
biochemical and got a lot of talk about bio polar disorder and
schizophrenia and I know that can't be right, so I decided quickly to
not google anymore and just wait for the appointment. I did however
mention it to her cognitive therapist and she said he would be talking
about babies that are born with an inability to process some metals or
proteins or something like that, and so as the thing they can't process
builds up, their body starts acting strange and reacting to it. This is
very interesting to me, thinking about the slight possibility it is
something like that and wondering if she could be treated with a pill or
something. I don't know, trying not to think about it and for sure not
getting my hopes up. Just interesting. I'm sure we'll know more
tomorrow. The appointment is at 4, and I will for sure update soon. I
would like to point out how horrible and complicated our day could be
tomorrow if Scout actually had to be admitted to the hospital.
Seriously? Could that actually happen? Cause I think that is just a
little too much don't you agree? Fates? Heavenly Father? Karma? I am
letting you all know I'm not seeing that as being very nice. (and if
it is the way it is going to be, I'm going to need some instructions on
how to figure it all out and make it work.)
***************Elinor Update****************\
Last night's appointment went great. Dr.
Filloux was unable to make it at the last minute, but that didn't really
matter to me. Dr. Carey has been discussing Elles with colleagues from
around the country. Since he had a few directions to go when it comes
to our next step in trying for a diagnosis, he thought it best to see
Elle again in person before he decided the smartest direction to go.
His recommendation is to go with a broader rett test (his other idea at
this point (the idea from a Angelman expert in Boston), is to do an eeg
test -which measures brain waves) apparently Angelman brains have
really screwy eeg tests even if seizures aren't present. If she gets a
screwy test result that will tip the scales towards it being Angelman's
quite a bit. BUT given her (I forgot what he called it- the movements
she has developed with her fingers), he would point more towards rett.
Here is some good news: 1. She would definitely have a lesser variant
of the syndrome, and he would not expect us to see any dramatic losses
at this point (ie my fear of losing eye contact and eating capabilities
are very very unlikely given how she presents). 2. Seizures starting
at this time in her life with rett (after 2) are highly unlikely. 3.
Since she has shown improvement in all areas of development according to
her last evaluation in August and even though we have seen some things
drop off her abilities/stuff she does, he said that she would not
classify as "regressing". We figured that any loss would mean she is
regressing, but apparently since she is overall showing improvement,
that is a promising thing. 4. Dr. Carey upon observation, feels that
her limitations with her hands and body are affecting her cognitive
abilities more then we might guess. This gives me great hope that we
will see greater things from her. She really is more interested in toys
these days and she is showing quite a bit of improvement in her motor
skills- therefore, they will improve and as they improve, her cognitive
skills should improve. 5. He gave us a bit of hope about some things
rett kids can do given her possible variables (ie some verbal skills,
etc.) 6. It was nice again to see with my own eyes such a wonderful
doctor being so invested in our little girl and the long amount of time
he was willing to spend talking to us and listening to our concerns and
explanations (not to mention all the time he has spent discussing her
with his peers). It makes me sad to think that everyone in a situation
similar to ours doesn't have the same experience. We have absolutely
hit the jackpot with Elle's team of doctors and therapists. It makes me
a little weepy thinking about how great everyone is and how much they
invest in and love our daughter. That is soooo important to you as a
parent.
Also--- Dr. Cary pretty much shelved the
idea that she has a biochemical problem yesterday given her overall good
health. She really is super healthy and almost never sick. That
doesn't mesh with having a biochemical problem.
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