These Are The Days of Our (Genetic) Lives

I have had so many people asking questions about the genetic testing and the results we are finding. And I thought I should answer some of them. :)



Q: Have we gotten any results back yet?

Well, as of right now, we still don't have any results. In fact, we still don't have a lab to do our tests yet. I am THE WORLD'S most impatient person and I called the geneticist last week to see if she had any news. As of last week, she had JUST received Gavin's medical records from the hosptials and was going through them with "a fine tooth comb." Since Gavin had oodles of medical records from his three months in the NICU - they had to copy and mail the records and well, that just took a few extra days. Our doctor is SO nice though, and I just can't complain about her being ultra-specific while reading his records.



Q: So, did Gavin have a syndrome, or not?

That's a freaking great question. Yes. Gavin had some type of syndrome. It's just that we don't know what syndrome he had. He did not have an IDENTIFIABLE syndrome, but he did have some anomalie or mutation within his genes. According to the geneticist at PCMC, "Everything is genetic. Good or bad."



Q: So what are they looking for?

The problem with Gavin was that he didn't fit the criteria for any specific syndrome. However, he did have many characteristics in a class of syndromes called Otopalatodigital and this is what we are testing for right now. I know it's bad to do your own research, but as I read about it online I found that he really does fit a lot of the criteria. Within this cluster of syndromes there are four or five different specific syndromes. Some of them have only been diagnosed a few times . . . EVER, but they know exactly what tests they need to run to look for this family of syndromes. The sad thing is that if this is what Gavin had . . . there is a chance that it's hereditary and our future children will have it too.



Q: How do you get an Otopalatodigital syndrome?

OK - I'll try to explain this the best way I can . . .



1) It could be a syndrome de novo which means that for some random reason that specific gene in Gavin mutated during his development. The chance of having a child like this is the same for every mother. Nothing could have been done to prevent or predict this. I guess we could consider this a freak accident (but I would never call Gavin that - he was this way for a purpose)



2) It could be an X linked problem. I'll try to be as brief as I can, so here it goes . . . Every woman has a XX sex chromosome and every man has a XY sex chromosome. When a baby boy is conceived the mother passes on an X and the father passes on a Y. Well, if I have a mutated X gene and pass that on to my son . . . he will have that mutation as well. So, why doesn't the mutation present in the mother? Since the mother has 2 Xs the one that is normal can compensate for the X that is mutated. Therefore, as a woman you can be a carrier but not have the syndrome. If this is the case and I have this specific mutation to cause an Otopalatodigital syndrome all of my children will have it, but it will always be lethal in my boys because their Y can't compensate for the X that is mutated. Yeah, I know I just babbled . . .



Q: Do you think it will happen again?

My gut used to tell me that this was just Gavin and that this wouldn't happen again. But with all of these new possibilities and syndromes we are looking into, I am just not so sure anymore. We don't know that he had an Otopalatodigital syndrome . . . but so many issues these children deal with sound a lot like Gavin. And there isn't a little boy with this syndrome that has lived past a year old. This makes it a very real and critical decision. I just can't say I feel one way or another about the chances yet. I think I just need a little more information first.



Q: What happens if the tests come back negative for Otopalatodigital? What do you do then?

Another great question . . . and we ask each other that all of the time. Yes, we think we may be headed down the correct path with this "lead", but what do we do if this syndrome isn't the diagnosis either? I guess that means we have to try something else and start this process all over again. The thing about genetics is that you can dig and dig forever and still not find an answer. It is a lengthy process, but it's a necessary process as well. We are just praying that we find some type of answer.



So, there you go. I know there really isn't any answers to give yet but at least we have a direction. Maybe it will turn out, maybe it won't. The important thing is that through this process we depend on each other, our families, friends and the Lord. I am sure that someday we will know - it just may take awhile. Ugh! More patience!