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Addressing the Needs of Patients – as a Parent and a Provider

For 28 years, I've worked as a clinical research coordinator and physician assistant in Montefiore's Division of Pediatric Endocrinology. I have seen and cared for patients with a range of medical conditions - from thyroid disorders to early puberty. As a mother of four children I understand that parents tend to blame themselves for the health problems that afflict their kids. I also know all things can't be perfect, but we all want what's best for our children.  

In our division, we pride ourselves on providing the best care for kids with a wide range of conditions, those that are well known and those that people are largely unaware of. Our team strives to address all aspects of a child's needs - physical, social and emotional. One specific group of patients that requires this kind of specialized care is girls with Turner Syndrome.

Turner Syndrome is a condition that affects 1 in 2,000 live births and occurs when there is an absence of all or part of the second X chromosome in the female body. This abnormality affects many parts of the body - potentially leaving girls with infertility issues, kidney abnormalities, hearing loss, cardiac problems, scoliosis, dental problems, webbed necks, social issues and anxiety.

Most girls with this genetic abnormality don't get diagnosed until they're in their early teens, when the first symptom that appears is usually poor growth. I can remember a cute "tween" girl, who came to me years ago because of poor growth. Her standard workup included doing a test to check for chromosomal abnormalities. When the diagnosis came back as Turner Syndrome, both the patient and the mom were distraught, since there were no other physical abnormalities that were evident. Mom blamed herself and would cry.  However, after enrolling the patient in a novel research protocol which treated her short stature with synthetic growth hormone, she began to grow and felt more "normal." All of a sudden she wasn't the smallest in class anymore and both mom and patient felt happy and relieved that one obvious problem was corrected.

With this often late diagnosis, it is essential that these girls have access to a range of pediatric specialists including endocrine, cardiac, ENT, gastrointestinal and ophthalmology. Guidelines for the care of Turner girls do exist, yet many patients fail to get the care they desperately need because public awareness is low and many doctors have limited experience with this condition.

To rectify this, I, along with the Turner Syndrome Foundation, coordinated a workshop for girls with the condition. This was a first for Montefiore and it offered a host of difficult-to-find resources to families from around the Tri-state area.

The workshop featured lectures from clinicians on how to treat the various conditions associated with Turner Syndrome and also addressed issues such as bullying, self-esteem and identity. Child Life Therapists, including art therapists and music therapists, worked with the girls during break-out sessions, encouraging them to discuss common experiences and learn how to cope with various aspects of the syndrome. The families asked important questions, found connections to vital resources and, most importantly, formed bonds and friendships with other girls and family members that will last a lifetime. It was truly a wonderful event.

Working with girls with Turner Syndrome over the years, seeing their potential and possibilities for the future, I know that despite all the obstacles they face, with proper care, these girls can truly develop their full potential and lead a healthy, productive life.

Susan Wesoly, RPA-C, is a senior physician assistant and clinical coordinator in the Division of Pediatric Endocrinology at The Children's Hospital at Montefiore.

Posted by blogmoderator on 10/25/2013 at 2:25 PM Add Comment