Author Archives: hcps-snesilhc

Edward’s Syndrome–Hannah and Biz

This is a baby who has a cleft palette.

This is a baby who has a cleft palette.

This is the karyotype of a person’s DNA with Edward’s.

We received horrible news last night. When Eddie was born two days ago, we knew immediately that something was wrong. We knew from the ultrasounds that he would probably be small, but didn’t realize to what extent. He was underweight, with a large head that bulged in the back. He seemed fragile and weak, with difficulty breathing.  His cleft palate was obvious. His hands were clenched into fists, and his fingers overlapped. Most disturbing of all, he has webbed toes and his left foot is a club foot. The doctors tell us that he will not walk normally.
The doctors karyotyped a sample of his blood to confirm his diagnosis: Edward’s Syndrome. Eddie has an extra chromosome eighteen, and this one genetic mistake will affect the rest of his life. This defect appeared during meiosis. Although no testing has been done as of yet for the heart or kidney defects that are common with this syndrome, we are prepared for more bad news.

The doctors sat us down and talked with us about his prognosis. 50% of children born with this disorder to not live beyond their first week, and only 10% live to see their first birthday. However, 95% of fetuses with Edward’s Syndrome die before they’re born. This just shows how much of a fighter he is for surviving this long. The doctors told us how unusual it was for a male to have the syndrome, since most affected are girls.

There is no cure for this syndrome. We know that the cleft palate can be fixed through surgery, but many of the other symptoms can only be alleviated. His poor abdominal muscles will cause constipation and he will have motor skill problems. He may need to be fed through a tube, and will have to have regular ultrasounds of his stomach. Eddie is at more risk for infections and immune system issues than a healthy baby as well.

I’m devastated not only for Eddie but for my eldest son, JimmyJohn, who has been excitedly asking, “When’s the baby coming, Momma?” for the past month. He’s been talking about how much he’ll have fun playing with a baby brother, and now the odds are against Eddie even coming home from the hospital, let alone playing baseball.

I am trying to come to terms with this event in my life by learning as much as I can through resources such as http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002626 and trisomy18.org. This website has stories from other parents with children with Edwards syndrome. It is also a great resource that has helped my husband and I make choices about Eddie. One thing that I have learned is that I am not to blame for this genetic defect. Our goal is to make him as comfortable as possible and celebrate his life while it lasts. The defects in his vital organs means that he will need professional care by doctors. One option is to send him to the University of Texas Health Science Center. Also, we can give him occupational therapy to help with his motor skills. In the end, we’re glad to have Eddie as long as we can and will be very sad to see him go.

 

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