I knew something was not quiet right. Everyone around me was saying, "Don't worry they'll catch up." But I knew they were not exactly like other kids.
We got a call from the pulmonologist and he referred us to a neurologist. Many tests were done. We ruled out a lot of things. One chromosome test took 10 months to get back and it pretty much told us that they were "all boy." (Thanks! Like we didn't already know that!) I was pretty mad about that, they doctor explained to me this would show any genetic problems they may have. So I believe she ordered the wrong test.
They we were referred to a genetic doctor at Emory Genetics in Atlanta. He decided to do a metabolic study on one of them and a DNA Micro Array analysis test on the other. Eight weeks later Erin (genetic counselor) called and said, "Luke has a 'tiny' deletion in a gene commonly known as the CoHN1 gene. And because of their physical and mental qualities I believe this may just be your answer. But we will have to conduct one more test and send it to Maryland to be totally positive."
So of course I look it up on the Internet, read everything I can find. Try to find someone who is going through the same thing. "Cohen syndrome..........Cohen syndrome." What does this mean for my two little guys? Should my husband and I tell everybody we have a diagnosis? Or do we say, "We have an answer now, it explains their developmental delay." And just leave it at that.... My problem is this, I don't want to put labels on them. We don't know just how mild or moderate this tiny deletion is yet.
So that is where we are today (Sept. '08). We will go to the doctor next week so send their blood off to Maryland and I think it takes about twelve weeks to get it back.
I believe the sky is the limit for Luke and Lane and I want to do what is going to benefit them the most.
Update: February 2, 2009
We got a confirmed diagnosis on both of our boys over these past few months. And we did decide to tell our family and friends (as some of you already know) because we realized that label or no label it will not change who our boys are, they are very special. And we wanted to try and help other families find a diagnosis as soon as possible, because it can go undiagnosed forever if you do not know what to look for and sometimes "who" to talk to. We hope their story will help other families in any way possible.