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eSpecially Parents July Edition: Denise's Story

Matt and I have been married for 12 years. I always wanted to be a mother and I was finally blessed five years ago with a healthy baby boy, Jason. Two years later we welcomed Luke to our family. Luke was born after a normal pregnancy but was sent to the NICU since he was 5 ½ weeks premature. During his hospital stay we learned that Luke had some health issues and was later diagnosed with CHARGE syndrome.


Despite his health issues Luke was a great baby. He has an easy-going and happy personality even while under-going multiple surgeries and procedures. The decision to have more children after Luke was not an easy one. On one hand, I loved being a mother to my two amazing boys and yearned for one more child, hopefully a daughter this time (although I would have been happy with three boys too). On the other hand, would we want to take the chance that our next child would be born with a disability? Luke’s expression of CHARGE is relatively mild and I knew it can be so much more debilitating.

After consulting a few specialists including an OB-GYN who handles high risk pregnancies and two geneticists, we learned CHARGE syndrome is caused by a sporadic genetic mutation. It occurs in 1 in 10,000 pregnancies and the reoccurrence rate is at most 1-2%. Most of the time kids with CHARGE are born to families with no family history of the syndrome. The exception is when a parent has mild symptoms of CHARGE the reoccurrence rate can be as high as 50%. Since Matt and I don’t fit into this category our risk was estimated to be the same as the general population. We had a higher chance of having a baby with any other genetic abnormality since these occur at a rate of 3-5% in any given pregnancy.

When Luke was 2 years old we found out we were expecting again. Since I already knew the facts, I wasn’t too concerned about having another child with CHARGE. Still, we made sure I was seen monthly by a high risk OB-GYN and had frequent high resolution ultrasounds because there was still that small chance something could go wrong. After each ultrasound I was able to breathe a big sigh of relief. Our baby girl seemed perfectly healthy.


Madelyn was born after a full term pregnancy this past November and she is such a gift to our family. Her brothers adore her, especially Jason, who will show her off any chance he gets. I even caught Luke lovingly stroking her head one day which was sweet considering how rough and tumble he can be. Life with three kids under the age of five can be crazy but it is well worth it.


After having a special needs child it is often difficult to consider another pregnancy. Not only did we worry about the reoccurrence rate of CHARGE but we also wanted to make sure that each child would be able to have their needs met. Although it can get hectic around our house at times (or most of the time) I feel very blessed to have three wonderful children who each enrich our lives more than we could have ever imagined.

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