I'm mama to Dashiell, who was born July 14th and who is just over 3 months. On Wednesday he was diagnosed with Cri du Chat Syndrome ("Cat's Cry") which is a partial deletion of the 5th chromosome.
It's an extremely rare disorder, occuring in 1 in 15,000 to 1 in 50,000 births. Only about 50-60 kids a year are diagnosed in the US. The most distinguishing feature is the fact that many babies cries sound like that of a cat or kitten, hence the name. This isn't a feature my son has though.
While the news is still devastating, it's not a total shock, as I had thought something was different since he was born. His eyes are spaced more widely than with "normal" babies, so that was a characteristic I'd noticed. Also he has a small head (roughly 2nd percentile) which is a trait. At his first pediatrician's visit at 2 days old we were sent to the hospital to test for hypothyroidism as a result, which it turns out he didn't have. When I had been searching on Google about that disorder, and many other disorders, I came across information about the single palmar crease, or simian crease, on his hands, which is common in several genetic disorders, including Down's. I knew he didn't have Down's because he didn't have the distinctive facial features, but ever since that discovery I'd had a kind of sinking feeling, which was confirmed this week after he had blood drawn last month for genetic testing.
We have no idea how this will affect him though. This syndrome often has mild to severe retardation as a result, with both mental and physical delays. Because he has mild symptoms now, I'm hoping that it will be mild, but I guess there's no knowing, just watching how he develops against the usual milestones. Also, from what I can tell, there are many things not known about this syndrome... for starters it's not common, up to the mid 80s it was common to institutionalise children with CdCS until they realised homereared children did much better. And the improvements in genetic testing mean that many mild cases might have gone undiagnosed up 'til now. Had it not been that I'd wanted his palmar creases checked, and a few other small things, I think he might have been one of the kids that went undiagnosed for a while, though we do have a very attentive set of pediatricians who picked up on a couple of other issues.
He also has a heart murmur, because of a Patent Ductus Arteriosis and a Patent Foramen Ovale. He's being monitored for both for now (and has since he was about a month old), these are both things that occur fairly regularly and often close by themselves. If there is no improvement then he'll get medication first to try and correct it, otherwise it's a minor surgical procedure via a catheter.
For now he's doing well. CdCS kids are often born with quite low birthweights, so at 7lb6oz (which is pretty average) he has a much better chance already. His weightgain will be slow (he's only about 11lb6oz now at just over 3 months) and I hope to exclusively breastfeed him as long as I can.
Sometime soon he'll be evaluated for NY state's Early Intervention programme which offers Speech, Occupational and Physical therapy, as well as various other services and support. My husband and I will be getting tested soon to see if it's just a random occurance or if it's possibly from either of us having a balanced translocation of our genes, handy to know as we would like other children in the future.
Sorry if this is a bit rambly
I'm still sifting through a lot of emotions, feelings and information. I'm glad to find a forum where there are parents with special needs children... other people who'll better understand what I'm going through.
I'm trying to steer clear of many of the "why me/us/him?" lines of thinking, because the situation is unchangeable and beating myself up over it is fruitless. Sometimes I feel bad for feeling like I'm mourning a child that isn't even dead, because that's what it's like when you hear this kind of news. The "good" news is that it wasn't anything I did or didn't do during or before pregnancy, but the bad news is also that because it's a genetic disorder, there is nothing to fix it, unlike most medical conditions. Thankfully there is therapy to maximise his potential.
The worst part so far is just not knowing. All the set expectations you would have with normal children just go out the window and everything is up in the air. In a way I guess it might be a good thing that he's my first, so there's no precedent for me to measure him up against.
Other than that I love him to pieces, and he's beautiful to me. Nothing will ever change that.
Anyway, nice to meet you all