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Old 08-30-10, 09:50 AM
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Thumbs up It's (almost) official

We saw the developmental pediatrician and she officially diagnosed Alex with Ehlers-Danlos Syndrome. She wants some help in ruling out Muscular Dystrophy just to make sure we're covering all of our bases so we're seeing the geneticist in October to discuss it all with him and see if he concurs with the EDS diagnosis.

For now, he's started trying to walk. He can't make it very far and he's VERY wobbly/stumbly/awkward/funny looking but he's really trying and so proud of himself.

The biggest obstacle for him is that because his joints are so loose, he has to lock his knees with every step so he's not really fluid. Additionally, to stand up he has to crawl to a stationary object and pull up because his knees aren't strong enough for him to squat/stand on his own. Most kiddos can stand up right in the middle of the room and go--but not Alex. he needs assistance to stand and then he can walk a few feet before his legs just fatigue and he falls.

BUT--he crawls to the table/chair/couch and starts all over again. He'll totally wear himself out trying and you can see how proud he is of himself. I'm sure this has NOTHING to do with the fact that we make a BIG deal when he does walk--with lots of praise, snuggles, clapping, smooches, etc. So he loves the attention.

I'm hopeful that he'll be able to walk independently someday and this certainly feeds that hope. I just don't want to get my hopes up too high and find myself feeling disappointed in his lack of skills. I don't want to ever be disappointed in him and most especially for something that he has no control over.
So for now, we're relishing in the fact that he's trying and we're keeping our fingers crossed that this newfound desire to walk continues to grow into something amazing for him.
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Old 08-30-10, 10:09 AM
rudolphia's Avatar
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Rudi - VIP CL & mom of 2
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What a trouper!
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Old 08-30-10, 10:55 AM
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just melts my heart to hear you talk about Alex! Way to go buddy! Glad they are still leaning towards the ED, although I am sure that you will be MUCH relieved when they finally rule out the MD. He will walk independently, I have NOOOO doubts about that!!!
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Old 08-30-10, 11:29 AM
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Deanna you guys are wonderful parents. I'm happy to hear that he's trying so hard and that is very encouraging. I'm sad that you even have to endure this process but Alex is perfect the way he is and you guys were blessed with him you YOUR family because God knows that he fits there.
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Old 08-30-10, 12:34 PM
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WTG! Alex! The fact that he is compensating for his condition to try and walk is a great sign.
I'm praying everyday for you guys Deanna. I sincerely hope that everything is confirmed for EDS and not MD.
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