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Old 12-04-10, 11:02 AM
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Arrow Update on Alex (long)

Hi ladies! Things have been unusually busy in our house these last couple of months. With all three kids going in different directions, it makes for little free time.

I wanted to give a quick update on the latest news with Alex.

Most of you know that his gross motor skils have been delayed by about 6-8 months since he was 6 months old. He didn't sit unassisted until about 9 months old, didn't crawl until 14 months, and finally started walking at 20 months. We've been working with several docs to figure out a diagnosis and he's been in physical therapy since he was 7-8 months old.

Our developmental pediatrician diagnosed him with Ehlers-Danlos Syndrome in August and we proceeded accordingly, getting a confirming opinion from a geneticist. Well--that guy was a TOTAL WASTE OF TIME. He basically blew me off and seemed more interested in impressing his female med student than addressing my concerns.

We saw a new neurologist at Cincinnati Children's (different hospital) this week. This doc agrees with me that EDS may not be the correct diagnosis and suggested that we investigate Congenital Muscular Dystrophy.
 
The presenting symptoms are similar in many of these collagen disorders but he is an expert in the CMD field and thinks Alex fits the classic profile.
 


So Alex will have a muscle biopsy on December 20th and some Collagen VI gene studies done as well. The biopsy is an outpatient procedure but it still requires general anesthesia and he'll have an incision on his calf. They will remove a portion of his calf muscle to evaluate it and, combined with the genetic studies, will be able to arrive at a diagnosis.

Congenital MD has a sliding scale of severity so we're keeping our fingers, toes, eyes, hearts crossed that he falls on the less-severe end of the scale. We should know more after all of these tests. The results will be ready sometime in January. We should know something before his 2nd birthday.

On one hand, I'm totally heartbroken that my little guy has to endure this and potentially suffer the effects of this disease for the remainder of his life. On the other hand, I feel "relieved" that someone is actually taking my concerns seriously. I've been expressing concern since he was TWO WEEKS OLD so for it to take until his 2nd birthday to see some real action toward diagnosis is excruciatingly frustrating.
 


The girls are busy with school and doctor appointments of their own and Andy recently received a BIG promotion at work so he's been consumed by all of those new responsibilities so we're kind of swamped lately. I finally am relieved of a 19-day migraine. I had a migraine for 19 straight days in the last month so that has knocked a lot of the wind out of my sails. But for the last two days, I've been headache-free---thankfully.

I do check in at TBC many times every day but don't always have time to post. I'll try to make more of an effort in the coming weeks.


 

Last edited by Dopey406; 12-04-10 at 11:05 AM.
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Old 12-04-10, 03:38 PM
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Aww Deanna if anyone ever need a big hug and a shoulder to cry it's you. I'm always so thankful how healthy and well-developed Joseph is and when I see the struggles you are having with Alex I remember that it is just luck that I'm not in the same shoes as you and Andy. My prayers are with you.
I'm glad you finally kicked that migraine's butt. Praises for Andy promotion even if it is hard to manage right now.
I'll be sending up an extra prayer up on the 20th for you guys to go along with my regular prayers for your well-being.

 

 
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Old 12-04-10, 05:46 PM
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Laura, you're just swell.
 
THANK YOU!!
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Old 12-04-10, 08:56 PM
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I am sorry as well that so much is going on but at least you are on your way to hopefully answers & finding out just what your little man has. Many thoughts & prayers coming your way. Glad the migraine is gone that is way to long to have to endure a headache.
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Old 12-04-10, 10:08 PM
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I'm glad you're finally moving toward some answers. I know how you feel as I've been working toward getting some help and answers with Lukas (so far we've learned that he has sensory integration disorder, fine motor and speech delays, and he will be evaluated by a developmental ped to determine whether he's on the autism spectrum). All this finally came to light after I changed pediatricians. My original ped kept telling me he would outgrow his chewing and drooling, and looking into those minor issues brought me the information I need to finally get him some help.

I'll be thinking of Alex and hoping that you get good news!
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