Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

[Mike Miller <EMAIL:PROTECTED>]

On Thu, 13 Mar 2008, Vern Green wrote:

> Thank you for the nice words. My pediatrician was trying to say that 
> there was no test for this that would be conclusive, but then agian, 
> this might be the first time he has ever seen this in one of his 
> patients. He did tell me he knew a nurse who had it before.

There are some very definite rules for diagnosing this disease and they 
were probably developed fairly recently.  He should look them up.  The 
genetic tests have validated the diagnosis -- no one informally diagnosed 
with Holt-Oram who did not also meet the formal criteria had a mutation in 
TBX5.  That is pretty impressive.


> I would like to know for sure, if nothing else to understand why Jeremy 
> had his heart condition. I did not like the explanation that it "just 
> happens sometimes" but that is all I was getting. While it might not 
> make a difference, mentally it is comforting to know where it came from.

If they can identify a mutation in TBX5, they should also test you and 
your wife for the same mutation to see if it is there or if it was a new 
mutation.  My guess is new mutation but that needs to be checked.  If you 
and your wife don't have it, then it was a new mutation and you don't have 
to worry about the other kids.


> I am not sure if I told everyone the story, but it was a little rocky 
> there for a while with his heart condition, while Mike may scoff, we 
> prayed hard, had a lot of other people praying hard, and we followed the 
> doctor's advice. Where he had 5 different holes before, one of them was 
> 9 mm in diameter. Now he has 3 holes, and the largest one is now 4 mm in 
> diameter. The cardiologist is saying that he will likely not need 
> surgery now and that he fully expects the holes to close completely.
>
> In the end, if all we have to do is deal with his odd little finger and 
> giving him support as he deals with the gawks, points, and laughs about 
> his hand, I feel that our prayers have been answered. At least we may 
> not have to face the dreadful operation that in all practical purposes 
> kills our little boy (stopping his heart), in an attempt to make him 
> better. If it came to that, I would walk into it knowing that it is in 
> God's hands and that he would guide the hands of the surgeons.

I don't pick on people for their religious ideas when they are coping with 
such a stressful challenge.  The religion helps to unite people and it 
will help you to get through it.

Congratulations on the good outcome.

Speaking of surgery -- you'll probably find that surgery on the thumb is 
highly effective.  I'm just guessing, but it looks like something that can 
be repaired quite well.  Look for a good orthopedic surgeon who has a lot 
of experience with deformities of the hands and see what he thinks.

Mike

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