I had already done a bunch of research on this one because it is common for babies with this deletion to have the cleft palate and heart defect, so when I searched chromosomal issues with these two symptoms, this one came up periodically. So I was prepared, but this wasn't what I wanted to hear. I wanted to hear that these two being together was just bad luck. That the heart defect was genetic and the cleft palate just happens sometimes. But those were not the cards we were dealt.
Some other common problems we may encounter are that baby may be more prone to infections and have immune system difficulties and may develop autoimmune disorders such as rheumatoid arthritis, kidney problems, low levels of calcium (which may result in seizures), hearing loss. Baby may also have developmental delays including delayed growth, speech development, and learning disabilities. Later in life babies with this syndrome are more likely to develop mental illnesses such as schizophrenia, depression, anxiety, bipolar disorder, and it is quite common for them to have ADHD or be on the Autism Spectrum, there are also a plethora of other problems that may occur, but those are just the ones that jumped out at me.
One of the things that my OB/GYN stated is that all of these things are on a spectrum. Not all babies have all of these problems. And the "micro" part of the diagnosis is a good thing, it means the deletion is small, so in theory, this baby will not have as many difficulties as a baby with a "macro" diagnosis would.
Of all the possibilies of troubles that this baby could have, the one that worries me the most is the possibility of my baby developing Schizophrenia. That is one of the scariest possibilites for me. I have seen too many people in jail with schizophrenia, and after my neighbour's suicide last October, which I came to conclude was partially due to schizophrenia... it's too much to just shrug that one off, and that is one we probably won't know about until adolescence, which is also scary.
The next one that concerns me the most, but not nearly as much as the schizophrenia, is the calcium deficiencies that may lead to seizures. I have never seen anyone have a seizure and I know that for the most part all you can do is just let them pass. To be so out of control when things like that happen, scares me.
Almost everything else, I can deal with without losing too much sleep, I think. We already know about 2 physical issues that will require surgery, if there are kidney problems that may be another surgery, I am sure there are also medications for a lot of the physical things. As for the learning disabilities, I am not even remotely concerned. Life might be a bit tougher, but that's ok. We will deal just fine. The other mental illnesses... well... lots of people are walking around with depression and we don't even know it. We have the advantage of knowing that my baby may be prone to it, and thus can act accordingly if it shows up. I think that the advantage of depression over schizophrenia is that people that are depressed generally are not paranoid about being on medication. They want to feel better and they will let someone know if the meds aren't working anymore. People that are schizophrenic tend to want to go off medication because they don't think it's working or think that it's a control mechanism and not in their best interests.
Right now, all we need to worry about is getting this baby to term, but it seems like after this diagnosis we will have even more specialist appointments. There will be a lot more we need to be concerned about, but we will know more when we talk to the geneticist on Wednesday. Hopefully we will learn what more we can to expect, and maybe this doctor will be able to eliminate some of the possible problems due to the "micro" diagnosis, or narrow it down to a more specific syndrome due to the location of the deletion. But we will just have to wait and see....
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I found this page very helpful in understanding this syndrome: http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
The schizophrenia thing is scary. To be honest, I keep thinking about the Buckwold boy who killed his father last year. But on the flip side, I feel reassured by the fact that everyone knows that this kid will be at risk for it and everyone kind of will be on the lookout for it, and maybe even preventitive measures can be taken before it becomes an issue or because it's being dealt with, it'll never get very severe.
ReplyDeleteIt is good to have the information before anything actually comes up.
- JMc