Although many young girls diagnosed with Turner syndrome lead healthy, happy lives, they are not without medical burdens.
The genetic disorder classified as Turner Syndrome can be diagnosed with a chromosome analysis prior to birth or a number of tests at any stage of development following birth. Usually, those tests are performed because of suspicions raised due to physical findings. However, it's also the host of non-physical ailments that accompany Turner Syndrome that the pediatric endocrinologists at Children's Mercy Hospitals and Clinics want to address and treat in the most efficient and effective way possible.
Partnering with pediatricians in other subspecialties, the Division of Endocrinology launched the Great HeighTS Turner Syndrome Clinic in 2011 to address those needs for patients with Turner Syndrome - a one-stop shop approach to treating the disease. The clinic partners with specialists in cardiology, nephrology, developmental medicine, adolescent medicine, pediatric gynecology, orthopedic surgery, genetics, hearing and speech, nutrition, and social work to provide a full range of expertise.
"Turner Syndrome is a genetic disorder we cannot cure and the treatment is not limited to what a pediatric endocrinologist can provide," says Joseph Cernich, MD, a pediatric endocrinologist at Children's Mercy Hospitals and Clinic and an Assistant Professor of Pediatrics at the UMKC School of Medicine. "Girls with this condition require care from multiple specialties in order to sustain the best quality of life."
The multi-specialty clinic offers a unique, comprehensive, medical approach to providing health supervision and care for more than 70 Turner syndrome patients from six states in the Midwest.
"We offer a one-day clinic every four months where our patients can see multiple pediatric specialists in one, convenient location," adds Dr. Cernich, the clinic's medical director. "They are screened for health and developmental concerns and we manage their needs with a multi-disciplinary approach. This structure minimizes the number of medical visits that the families need to make, which means less missed school and work."
Often diagnosed by the distinctive physical features, Turner Syndrome also produces a wide range of clinical abnormalities. Along with a delay in puberty and ovarian failure, major complications that trigger an unsuspected first diagnosis are also heart murmurs associated with narrowing of the aorta and kidney problems.
Specialists also watch for hearing loss, vision concerns and scoliosis, which occurs in approximately 10 percent of adolescent girls with the disease, as well as thyroid and weight management issues.
And, although it differs by age, developmental delays and social behavior are also closely monitored and addressed in an effort to help these patients, who often tend to be hyperactive, immature and anxious with nonverbal IQ scores lower than verbal. Naturally, as Turner Syndrome patients get older, the social differences may create anxiety, depression and strained peer relationships.
That's why Dr. Cernich and his staff feel one of the strengths of the special one-day clinic at Children's Mercy isn't in the exam room, but rather in the social activities, relationship building and group lunch and learn for patients and families.
"The goal is to increase communication and education regarding the condition," says Dr. Cernich. "Often, these girls are the only one in their town or school with the condition. We want them to know that they aren't alone and there are other girls like them."
The remaining 2014 Turner Syndrome Clinics are:
FRIDAY, July 25th and FRIDAY, November 14th.
To speak directly to a Turner Syndrome Clinic Nurse Coordinator, contact Kristy Hendrix, RN, at (816) 960-8810, or visit www.childrensmercy.org/TurnerSyndrome.