About 60% of people with CDLS have a gene mutation called NIPBL, these can be some of the most severe cases. Jameson tested negative for NIPBL while in the hospital. We've been told that about 20-25% of cases are from an unknown genetic source. The main reason for this is because CDLS is not something inherited, it is a random genetic occurrence that happens early on during pregnancy.
As far as living with CDLS, there is such a large range of severity. Some children and adults have difficulty with everyday tasks and have major health concerns while others have slight delay and function quite normally. Most all have communication delays, especially with the prevalence of hearing issues. Jameson also has common traits of CDLS such as his facial features, lots of hair, GERD which is just severe reflux, difficulty gaining weight, and feeding problems. We don't know all the answers as far as developmental delays yet but we hope for the best. Autistic tendencies can be common but with his amazing eye contact we're hopeful that it will be on the less severe side.
We have all the faith in the world that Jameson will get to live a happy and full life much like any other child. We appreciate your support with following our journey and kind words of encouragement. As he gets bigger and stronger I hope to be able to bring him out into the world more so people can meet him. I know how difficult it can be understanding something like this from the outside. None of our family ever expected or knew how to deal with this. To think this time last year when I was 4 months pregnant that we would be taking this little angel to every kind of doctor and specialist there was, we would've never believed it. And yet, when God gives you something like this you find strength and understanding you didn't even know you had.
Love to everyone and thanks for being an amazing group of family and friends.
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