God has a funny way of preparing one for life's surprises. I have amazing friends who have been there for every step of this journey with Isaac. In addition to those friends, we have wonderfully helpful and giving parents. I've been thinking a lot today about the ways God has been preparing me for this day and it all started before Isaac was born, beginning with our move to our current house, just a few weeks before his birth, and then to conversations with friends where I shared that I just had a feeling that something was going to be wrong with Isaac when he was born. And then it was something small, like, the blog that Sarah sent the link to where Kelle, a mom in Florida, had just had a baby who was unexpectedly born with Down Syndrome (Sarah and I follow her blog and pretty much think Kelle is one of our friends even though we've never talked to her and have never met her). Every Sunday we have dinner at my parent's house and one Sunday, when Isaac was a few months old, I told them that I thought Isaac was trying to tell me something. Not just that his head was abnormal, but something else--that something else was wrong. As you know, we started seeing doctor after doctor and had test after test with nothing turning up other than a few things recently, including the success of this last surgery.
Because I haven't heard from anyone, I've been assuming that all of Isaac's blood work came back normal. We went on Thursday for an ENT follow up (where Isaac screamed the entire time--probably a total of over an hour) and I asked that the doctor just double check if the blood work was normal. It turns out the genetic testing results were abnormal. The ENT doctor couldn't give me any information and I was told that I would have to wait one month until our genetics appointment before I would know anything. Obviously, this was unacceptable and thankfully, we were able to meet with a Genetic Counselor today. Here's the scoop:
Isaac has, Alfie Syndrome or P9 Deletion (Monosomy). This means that a piece of his ninth chromosome is missing. This occurs in 1 in 50,000 births. What does that mean?
-craniosynostosis
-short stature
-failure to thrive
-speech and language delays
-fine and gross motor delays
-mild to moderate mental retardation
-life expectancy is normal
-low muscle tone
-feeding difficulties
The genetic counselor (who was absolutely amazing) is still trying to dig up more information for us and she recommended that we join a special needs support group. The good news is that Isaac does not have the related heart defects and all of his sexual organs are as they should be. The easiest way to explain it, is that it has several similarities to Down Syndrome.
It's hard to know what to think right now. Obviously as a parent, you never want to be told that your child may never be able to participate in a regular classroom, live on their own, attend college. We have no idea where Isaac will be on the spectrum. All I know is that at this moment, we see that he is smart, funny, social, entertaining, learns quickly...and to the best of our ability we will continue to work with him so that he can meet his fullest potential because we want him to have every possible opportunity.
We were told that children with this syndrome are extremely social and affectionate. Because of their sociability, the language delay is that much more frustrating to the child. So I got a book today on baby sign language and I'm going to make a more concerted effort to work with him so that all of us can learn and give him the tools to communicate in his own way (without hitting his head, which at the moment is his response to frustration).
Isaac is our special little guy! He went from being 1 in 2500 (Cranio stat) to 1 in 50000...pretty impressive, right? I guess what we're feeling right now is mainly sadness. But we know that God gave Isaac to us for a reason and that He made him this way for a reason. I think Isaac will surprise us and exceed our expectations.
There so much more I want to share, but I'm so tired and I'm still processing all of this information and I feel like my thoughts are jumbled and aren't coming out the right way. I'll leave it at that, and I'm sure you'll learn more as I learn more.
p.s. The Geneticist wants some pictures of Isaac..."if it isn't too much trouble" -- haha! I told her that I'm a photographer and there is no shortage of pictures in our house!
Sierra, I am sad to hear your news, but so glad that you have some answers that will help you and Walter to make sense of Isaac's difficulties and learn more about how to help him. I am so relieved to hear that his condition will not affect his life expectancy, and that his heart and other organs are all healthy. I, too, think Isaac will exceed expectations, largely because of the love and nurturing of his family, especially you and Walter. He is a delightful baby who will keep bringing more and more joy to your lives. You are lucky to have such a sweet little guy, and he is a lucky baby to have such devoted parents and grandparents.
ReplyDeleteI responded to the bulk of this post on facebook, but forgot to add that the "ps" made me laugh. I think you have plenty of Isaac pictures to share, lol :)
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