Have tricky situation..experts needed!!

[lilywhite]

I think the fake soc is right.  

I have two different perspectives on this.  As a mother with a jerky ex and even worse ex's wife, I really don't think either one of them will agree to it.  Just let it go.

As a scientist, it depends on why they want the parents' DNA.  It could be they're looking for a transversion or something of that sort to see how it is transmitted.  If it is a transversion, it could have been inherited from one parent or the other or it could be new in this particular child.  If it's a different type of mutation, they may want to use FISH or some other such technology to see if other siblings and parents have the same mutation.  BUT, on the other hand, if they have 600 patients, there are 1200 other parents and having each and every one might not make much difference.  Or they might not have a clue what kind or where the genetic defect is.

Does this condition have a name?

[Sunshine1]

It does have a name and you have hit the nail right on the head.

They want to see if it is denovo or if one of us is a carrier.  If one of us is a carrier then our other child must be tested as well because then he may be a carrier.  They are also able to tell if a certian piece or chunk is missing in certain regions what seems to be affected by these pieces missing...ie speech, walking, talking, kidneys, seizures etc...

Are you a scientist?  I would be happy to speak to you in private, it is rare enough that it wouldn't take much for anyone to figure us out and I would like to protect the identity of myself and my children on this board.

Thanks!

[mistoffolees]

>It does have a name and you have hit the nail right on the
>head.
>
>They want to see if it is denovo or if one of us is a carrier.
> If one of us is a carrier then our other child must be tested
>as well because then he may be a carrier.  They are also able
>to tell if a certian piece or chunk is missing in certain
>regions what seems to be affected by these pieces missing...ie
>speech, walking, talking, kidneys, seizures etc...
>
>Are you a scientist?  I would be happy to speak to you in
>private, it is rare enough that it wouldn't take much for
>anyone to figure us out and I would like to protect the
>identity of myself and my children on this board.

But there's nothing there which indicates any reason to believe that they have a treatment plan which would improve his condition based on the results of testing the father.

If you can't demonstrate that, you don't have any chance. Even if you CAN demonstrate that the father's test results would result in an effective treatment protocol, you don't have much chance, but I just can't imagine why a court would order his testing.

Furthermore, you don't seem to understand the genetics involved. If your one son has it, then the other son could be a carrier. Testing the father doesn't tell you anything new.

[notnew]

>>It does have a name and you have hit the nail right on the
>>head.
>>
>>They want to see if it is denovo or if one of us is a
>carrier.
>> If one of us is a carrier then our other child must be
>tested
>>as well because then he may be a carrier.  They are also
>able
>>to tell if a certian piece or chunk is missing in certain
>>regions what seems to be affected by these pieces
>missing...ie
>>speech, walking, talking, kidneys, seizures etc...
>>
>>Are you a scientist?  I would be happy to speak to you in
>>private, it is rare enough that it wouldn't take much for
>>anyone to figure us out and I would like to protect the
>>identity of myself and my children on this board.
>
>But there's nothing there which indicates any reason to
>believe that they have a treatment plan which would improve
>his condition based on the results of testing the father.
>
>If you can't demonstrate that, you don't have any chance. Even
>if you CAN demonstrate that the father's test results would
>result in an effective treatment protocol, you don't have much
>chance, but I just can't imagine why a court would order his
>testing.
>
>Furthermore, you don't seem to understand the genetics
>involved. If your one son has it, then the other son could be
>a carrier. Testing the father doesn't tell you anything new.


Mist - I have to disagree with you here. Testing the father will allow them to map the genetic code and figure out how the condition is behaving, passing on, etc. It could well determine if the healthy son should decide to have children or not. It could also indicate if the father has passed this condition on to the child he has had with his new wife should the father be shown to be the carrier.

I had decided to bow out of these postings as obviously, Sunshine has made a connection with someone who has a lot more knowledge then any of us on this matter however. I felt that I had to reply to you though, there is information needed that is critical for the father to provide a sample.

Perhaps the father is dragging his feet because he doesn't want to deal with the ramifications in his mind that he may have also passed this to the other healthy children he has. Maybe it's a mental block thing with him. Who knows, but all of those children deserve to know the answers.

JMHO.

[mistoffolees]

>
>Mist - I have to disagree with you here. Testing the father
>will allow them to map the genetic code and figure out how the
>condition is behaving, passing on, etc. It could well

Wrong. Knowing the FATHER's genetic makeup will not tell you how the condition is behaving in a child. In the rare cases where the genetic makeup is relevant, they can determine it by testing the child, not the father.

It is clear from reading the OPs post that there's really no clear benefit to the child, but that she has been asked to participate in a research study which might someday lead to something useful, particularly for future generations. That's not something that obligates the father to be tested - particularly since it's not at all clear that testing him adds ANY value other than in a theoretical sense.

>determine if the healthy son should decide to have children or
>not. It could also indicate if the father has passed this
>condition on to the child he has had with his new wife should
>the father be shown to be the carrier.

Whether the father has passed the condition on to his other children by a different woman is none of the OP's business. Do you understand what divorce means?

Besides, they don't need the father to be tested, anyway if the interest is simply finding if he's a carrier. If it's dominant and if the child has it and the mother does not, then it must have come from the father. If the mother has it, it's extremely unlikely that it came from the father (since it's quite rare) (plus, they can usually determine if the child has both copies of a dominant gene).

However, it almost certainly recessive since the parents don't suffer from the disease (although there are a few very rare dominant genes which are activated by the environment, for example). If it's recessive, then both parents must have it by definition and therefore both parents are carriers.

It really would be helpful if you didn't discuss scientific concepts you don't understand.

[notnew]

It would be really helpful if you didn't make offensive statements.

I never offered a scientific slant on the matter, only my opinions. I also stated that it was obvious that the OP has connected with someone who is obviously knowledgeable about the medical side of this issue. It is also clear to me that you aren't a scientist or an expert in the medical field either.

Sometimes Mist, this site is a place to just be able to bitch and get a shoulder to lean on and a sypathetic ear. You seem unable to recognize that from time to time. You give great advice quite often but you also cut to the bone with scathing comments at times that are not always necessary.

Sometimes we need to realize that we are edgy and being short with others and check ourselves. I feel I've been nothing but respectful and would appreciate the same in return.

[krazyfamily_6]

>
>
>Whether the father has passed the condition on to his other
>children by a different woman is none of the OP's business. Do
>you understand what divorce means?
>
>


That is true BUT the OP and the father have another healthy child together too.

[mistoffolees]

>It does have a name and you have hit the nail right on the
>head.
>
>They want to see if it is denovo or if one of us is a carrier.
> If one of us is a carrier then our other child must be tested
>as well because then he may be a carrier.  They are also able

Sounds to me like you're not understanding what's going on. If it's recessive, then both parents are carriers. If it's dominant, they simply have to test you, not both of you (considering that it's quite rare, it's unlikely that you both have it). Furthermore, if one son has it, then the other son should be tested - no matter what the father's test results indicate.

So there's nothing in that description that indicates any benefit to the child.

>to tell if a certian piece or chunk is missing in certain
>regions what seems to be affected by these pieces missing...ie
>speech, walking, talking, kidneys, seizures etc.


OK, so you're talking about a chromosomal abnormality. That makes it even less important to test the father. If you want to know which genes are mislocated or missing, knowing the son's configuration is what matters - not the father's. Any benefit to the child will come from mapping HIS chromosomes, not the father's.

It looks again like they're trying to study the disease to determine more about how it is carried, as well as perhaps something about environmental triggers. The lab would like to have as many family members as possible to make a better study and possibly learn how the disease occurs, but that doesn't affect treaatment. I can't think of any similar examples where mapping the parent's genome would tell you anything about treatment for the child.

Oh, and btw, I have a PhD in chemistry with undergraduate minor in biochemistry.

[mistoffolees]

>>
>>
>>Whether the father has passed the condition on to his other
>>children by a different woman is none of the OP's business.
>Do
>>you understand what divorce means?
>>
>>
>
>
>That is true BUT the OP and the father have another healthy
>child together too.

Yep. And no one's stopping her from having the healthy child tested.

If they test the father, it would only indicate the possibility that the other child is affected - and they'd still need to test the other child. But since they have one affected child, they already know that the other child is at risk.

Testing the father adds absolutely nothing.

[mistoffolees]

I apologize.

However, you were making scientific statements that were erroneous. For example, you stated that testing the father would provide certain results - but there's no way that it could (as I explained in my other posts).

There's nothing wrong with complaining about the situation but when people are making erroneous judgements based on incorrect 'facts', then they need to be corrected. When they criticize me (also based on incorrect 'facts'), I will tell them so.

This is a matter of fact, not opinion. ANd your 'facts' were wrong.