If you run into Joey Vautour in the grocery store, he’ll probably wave and give you a big “hi!” What you might not realize is that saying “hello” is still a big deal for the happy 4-year-old. Although Joey loves people and is social by nature, speech has not come easily for him.
Shortly after his birth, Joey was diagnosed with trisomy 14 mosaic. This is a rare disorder that causes an extra chromosome on some, but not all, of the body’s cells. Kids born with trisomy 14 mosaic can have a variety of medical problems, which for Joey included three congenital heart defects, serious gastrointestinal defects and a cleft palate. He has also faced a host of physical and developmental delays. …
Learning that your baby has a cleft lip or palate can be upsetting, but these birth defects are quite common. They occur early in pregnancy when tissue from each side of the head grows together to form the face. If these tissues don’t completely join, the result is a cleft, or gap, on one or both sides of the upper lip. A cleft palate occurs when the tissue that forms the roof of the mouth doesn’t fully come together, leaving an opening between the mouth and nose. …
Jennifer Ryan is a disability expert. She started her career doing home visits with drug-addicted and abused babies, then ran a center and started a program for kids with autism and now works in a collaborative elementary school.
But nothing prepared this new mom for the challenges she would face with her own child.
“It’s completely different when it’s your own,” she says now, after her son Jack was treated at Boston Children’s Hospital’s Cleft and Craniofacial Center for a group of birth defects known as Pierre Robin sequence or just Robin sequence.
For the first and second trimesters of Jennifer’s pregnancy, everything looked perfect. At 30 weeks, a blood clot put Jennifer in the hospital and her pregnancy at risk. As a standard precaution for any high-risk pregnancy, more ultrasounds and tests were ordered. Doctors were concerned about one of the scans, so Jennifer was sent to Boston Children’s for an MRI.
That’s when things got complicated.