Stories about: Dr. Anjali Sadhwani

After a rough start, Joey is finding his voice

Joey, born with trisomy 14 mosaic and several congenital heart defects, poses in front of kangaroos at the zoo.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.

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Our family’s journey of the heart

Nicolas and twin sister EmmyWhen our son Nicholas was 5 weeks old, we brought him and his twin sister Emmy to our pediatrician for what we thought was a routine well visit. Though the twins had been born four weeks early, Nicholas had only been in the neonatal intensive care unit (NICU) for a few days with low blood sugar and jaundice. Both babies seemed healthy and we had no major concerns.

However, as we watched our pediatrician listen to Nicholas’ heart and pulse, we realized something wasn’t right. He told us the pulse in Nicholas’ lower extremities was weaker than the pulse in his upper body. He suspected Nicholas might have coarctation of the aorta and referred us to our local heart center, where they confirmed the diagnosis and immediately scheduled us for surgery at Boston Children’s Hospital.

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