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New diagnostic path? (Kinda long)

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Old 02-27-11, 10:16 PM
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Arrow New diagnostic path? (Kinda long)

I received a call from Alex's neurologist late Friday afternoon. Usually the nurse calls to report information/results but this time the doctor HIMSELF called so I was all ears.

He used a lot of medical jargon, all of which I understood because I've been studying genetics like it's my job.

Here's the low down:

Muscle biopsy

*increase in central nuclei indicating that there's definitely something going on in his muscles (anything greater than 3% in adults is considered abnormal and Alex's was MUCH higher than that)
*grouping of Type II fibers indicating that there's also likely a contributing nerve problem


*Lower leg (calves) most affected

ck Levels

*One elevated above normal
*One within "normal" range but at the very upper limit

Because of the increase in central nuclei and the involvement of distal muscles, he believes it to be a distal myopathy. In the category of distal myopathies, only a few present this early in childhood. The one he thinks Alex has is called centronuclear myopathy. There are three "types" of CNM: x-linked, autosomal recessive, & autsomal dominant. He think Alex has the autosomal dominant because he fits the clinical presentation profile and the test results all seem to match up.

He said that he didn't get in touch with me sooner because he's been "searching through the literature" to find all the information he could find about CNM.

The problem is that CNM is incredibly rare. The incidence of X-linked CNM is believed to be about 1 in 50,000, and the auto-dominant form is believed to be closer to 1 in 100,000. For comparison sake, the incidence rate for Down Sydrome is 1 in 733, Duchenne Muscular Dystrophy is 1 in 3,500, and Hemophilia is 1 in 5,000. The doc said that he could only find about 50 cases ever documented for comparison to Alex so information is sparse.

So for now, the plan is to run another genetic study on him to check a stand of the 19th chromosome called Dynamin 2. Kids with this kind of CNM have a problem with this gene so hopefully this test will help us get a diagnosis and move on with a course of treatment. Fortunately, the main treatment methods aren't really different than what we're doing now so I feel good about that.

Okay, is your head spinning yet?
That's where we are for now and we have an appointment scheduled with the neurologist for mid-April. Hopefully by then the results of the latest gene studies will be back and we can either solidify his theory or re-route in a different direction.

THANK YOU all for being supportive and encouraging. It's been a bit of a rocky road toward diagnosis but I'm keeping my
that we're in the homestretch.
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Old 02-27-11, 10:29 PM
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Wow - a lot to take in. It's great that the neurologist is really digging in to get the right diagnosis, and it sounds like you're getting somewhere.
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Old 02-27-11, 11:18 PM
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It sounds like you have an awesome neurologist. It's good that what you're doing now is helpful already and not hindering his potential progress.
We'll keep praying for you as ya'll go through what looks to be a pretty tough road.
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Old 02-27-11, 11:26 PM
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That sure is a lot of information for you all but with no real answers. Sounds like a VERY thorough and concerned doctor. Especially calling you personally. That is a blessing for certain.

It does sound like they are headed in the right direction and that you have headed down the right path regarding all therapies/treatments. :-)

I hope this is the direction to getting Alex the best possible diagnosis and treatments. It is scary to hear how rare it is and to not have too many case studies, other stories, etc....but the blessing of that is there won't be any preconceived limitations or expectations. Alex will write his own story of life with his diagnosis. With all your love and support and his determination it will be a very happy story I just know it!!!
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Old 02-27-11, 11:33 PM
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I am very impressed with you to understand all of that..and it write it to us so that we could understand! I am also glad that you have such a good neurologist and that Alex is getting what he needs. Sending lots of hugs your way!
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