“My Beautiful Mystery Baby” A 7q11.23 Duplication Diagnosis
April 8, 2015
I can remember like it was yesterday knowing that something was different about my Chloe. From the day Chloe was born she was a mystery baby. Chloe was born three weeks early and was still the size of a full term baby. She was peaceful and always sleeping. Most parents would find this as a blessing, however I saw it as a sign. As Chloe got older she didn’t seem to be very interactive with me. When talking to her or moving about the room making noises she never followed me with her eyes. I remember the frightening thought that maybe my baby was blind.
For Chloe it was simply that the muscles in her eyes were not strong enough. In fact the muscles throughout her body were not strong. Chloe has low muscle tone and extreme flexibility. I called her my sack of potatoes. She never stiffened up and I always felt like I was going to break her when I picked her up. Chloe also had an above average sized head.
These first signs pushed me to bring it up to her doctor. I didn’t start the process of finding a diagnoses until she was one years old. She was diagnosed as being developmentally delayed. At one she tested as being 3 months old. Being developmentally delayed was not a diagnoses for me, I wanted to know why. Chloe ended up having an MRI which showed delayed myelination. While she was under for the MRI they agreed to take her blood for a Micro Array analysis. With this analysis we were able to confirm the duplication. Chloe was diagnosed with 7q11.23 duplication, commonly referred to as the duplication of William’s Syndrome.
7q11.23 duplication is having 3 copies of the gene as opposed to the normal of 2 copies. This genetic disorder was first diagnosed in 2004. Chloe’s genetic doctor did not have much to tell me. We were given a pamphlet and we were told of an online support group.
As Chloe gets older we have added more and more to her list of conditions as a result of this genetic disorder. Chloe has a heart condition, severe speech apraxia, Oppositional Defiant Disorder, severe social anxiety and severe asthma. The asthma itself has hospitalized her several times. Chloe gets sick an average of 4 times every three months because of her asthma.
Chloe’s biggest hurdle is her speech. She talks very little. She talks in 1 – 2 word sentences and usually cannot be understood. She is in speech classes at school four days a week and then has a class outside of school one day a week. My biggest fear for Chloe is her speech not improving.
7q11.23 duplication is not very well known. Every doctor Chloe comes in contact with has never heard of it. I, the parent, have to educate everyone in Chloe’s life. Because of this I don’t have much to go off of for Chloe’s future. Will she ever talk? Will she overcome her anxieties? Will she have friends? Will she ever potty train? Will she be able to live on her own?
Chloe has taught me as a parent to be more patient, more loving and more empathetic. Chloe is my beautiful mystery baby. Every day is a new adventure and every day we learn more and more about her. As a parent of a child with a rare genetic disorder, I only wish I knew the future.
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