Children with trisomy

When Morghan Kubena was less than a week old, doctors told her parents, Faye Kaufman and Mark Kubena, not to get too attached. She wasn't going to survive a rare chromosome anomaly called trisomy 18. Her parents were given a do-not-resuscitate order, which they declined to sign.

Kaufman, from Houston, tells the story a decade later as she watches her husband and daughter walk hand-in-hand down the hall outside a special clinic at Primary Children's Medical Center. The two look just like each other, father slightly supporting his daughter as she moves on skinny little legs down the hall, a smile on her face visible behind the pacifier she likes to suck.

They have come, along with more than two dozen other families from around the country, to the annual gathering of SOFT — Support Organization for Trisomy 18, 13 and Related Disorders. Each year, they convene for group sessions, socializing, workshops and fun. But one of the highlights is the clinic, this year at Primary Children's, where parents check in with experts from various disciplines, including orthopedics, genetics, physical and occupational therapy, cardiology and ophthalmology.

This year's ophthalmologist, Dr. Steve Cantrell, made the trip from St. Louis to hold a clinic. His own son, Ryan, was born with trisomy 18 and died when he was just 8 months old. Cantrell understands the loss, the hope, the drive to do everything for such children. As many as half the families in SOFT are still involved although their own child has died.

They also embrace families with related conditions. "We are the home for conditions that have no home," says Dr. John C. Carey, medical director of SOFT and a pediatric geneticist at Primary Children's, which has hosted the clinic several times in the last few years.

He's also a leading authority on these trisomies — so named because a child with trisomy 18 has three No. 18 chromosomes, while one with trisomy 13 has an extra copy of No. 13.

They are very different but oddly similar syndromes, both affecting the mechanics of swallowing and eating, both often accompanied by heart defects and slow growth and poor muscle tone and neurological difficulties, among other challenges. A child with one of the trisomies may have spina bifida or hearing loss or vision problems. All have developmental retardation and most will not walk.

About 1 in 6,000 live births includes a child with trisomy 18, while the number is 1 in 10,000 for trisomy 13. Many babies with these severe chromosome abnormalities die before birth and Carey says 90 percent who make it to birth will die in the first year.

Those that don't, he says, "seem to be declaring themselves to be survivors."