Children with Trisomy 13 and 18 attend special Primary Children’s clinic

Families from throughout the United States–even from as far away as Uruguay–recently attended clinics for Trisomy 13, Trisomy 18, and other rare genetic disorders at Primary Children’s Hospital.The clinics were offered as part of the SOFT (Support Organization for Trisomy 18 and 13) Conference, which was held in Salt Lake City this year.

Primary Children’s Hospital offered the clinics to families attending the conference and physicians provided their consultations – all at no charge to the families. “This is a congregation of families from around the world,” said Primary Children’s geneticist John Carey, M.D., a founder of the annual conference. “It’s really almost like an exchange.” The clinic visits gave parents the opportunity to add to their knowledge on their child’s condition, along with the opportunity to receive a second opinion and observation for a child with complex conditions that require multiple medical specialties.

Trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, a baby born with three #21 chromosomes, rather than the usual pair would be said to have trisomy 21, which is also known as Down Syndrome. A child with trisomy 18 would have three #18 chromosomes. Children with trisomy often have multiple medical problems. They may have eye problems, cleft lip and palate, feeding problems, slow growth, seizures, kidney and heart problems, among others.

The SOFT conference families were offered the opportunity to visit three specialists in 12 clinics, including:

• Gastroenterology
• Orthopedics
• Feeding problems
• Cardiology
• Neurology
• Ear Nose and Throat
• Pulmonary/Sleep
• Audiology
• Physical Therapy
• Occupational Therapy
• Dental
• Eye Care

“This clinic was a great experience,” said Kristin Haynes, from California, whose 18 month-old daughter Sophie Marie was diagnosed with Trisomy 13 shortly after birth. This was the family’s first visit to the SOFT conference. “It gave me a chance to see that we were on the right track in addressing Sophie Marie’s medical issues.”

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