We connect individuals and families in the Turner syndrome community and create and support local resources, including a Turner syndrome clinic program.
eXtraOrdinary Kids Turner Syndrome Clinic
The eXtraOrdinary Kids Turner Syndrome Clinic at Children’s Hospital Colorado is the result of a partnership between family advocates and health care professionals working together to create a vision for coordinated care for girls with TS. In four years, the local family group raised $127,565 of which gave $90,000 has been given to Children’s Hospital Foundation designated for the support of Turner syndrome resources. These funds have helped to cover the start up costs of the Clinic as well as continue to pay the salary of the Clinic Coordinator.
Under the leadership of Dr. Laura Pickler, the Clinic opened in May 2015. It is staffed by a dedicated team of professionals who seek to address all of the health and social needs of patients attending Clinic. At the same time, family members from Turner Syndrome Colorado are present to provide information on our local group and offer parent-to-parent support.
Information about the Turner Syndrome Clinic
Turner syndrome affects 1 in 2500 live female births. Turner syndrome (TS) results from a partial or complete absence of one X chromosome. Medical features of Turner syndrome may include short stature, skeletal abnormalities, cardiac abnormalities, kidney abnormalities, endocrine problems, hearing loss, vision problems, dental problems, absence of sexual development and infertility. Developmental and psychological features of Turner syndrome may include delays in motor development, nonverbal learning disabilities, executive functioning problems, and social and emotional problems.
Due to the complex nature of TS, local Colorado families worked tirelessly with health care professionals to create a dedicated multidisciplinary Turner Syndrome Clinic at Children’s Hospital Colorado. With the support of active volunteers and generous donors, the Turner Syndrome Clinic opened in May 2015. Through the Clinic, families have access to a local and comprehensive medical resource to find information and ensure that their child with Turner syndrome receives excellent health care and support.
What is the Turner Syndrome Multidisciplinary Clinic?
The Turner Syndrome Clinic is a multidisciplinary clinic designed to address the medical, developmental and psychological needs of girls and adolescents with Turner syndrome. Providers on the Clinic Team include:
- Geneticist and Genetic Counselor
- Developmental-Behavioral Pediatrician
- Adolescent Gynecologist
- Clinical Child Psychologist
- Referrals to other specialists as needed
Why a Multidisciplinary Clinic and how can it help my child?
The Turner Syndrome Clinic is staffed by providers who specialize in the care of children and adolescents with Turner syndrome. The Clinic is designed to be a comprehensive clinic in which families interact with multiple providers during a single clinic visit, and care is coordinated among the providers seeing the child.
Will the Turner Syndrome Clinic replace my other doctors?
No. The Turner Syndrome Clinic will provide you and your child with recommendations specific to the care and management of Turner syndrome and should not replace your daughter’s other providers.
What to expect at an appointment in the Turner Syndrome Clinic?
Appointments during clinic are consultative; meaning the providers scheduled to see you that day will meet with you and your child for a discussion about your concerns and your child’s health. Since there are many providers on the team, these appointments may last 4-6 hours. Any additional medical procedures or psychological evaluations, such as ultrasounds, echocardiograms, ECGs, full neuropsychological testing, and blood draws will need to be scheduled before or after the appointment. At the end of your clinic visit, you will receive an After Visit Summary, which will include the recommendations from each provider you met with, as well as recommendations for future appointments.
In addition, representatives from the Turner Syndrome Colorado will be available during Clinic to provide families an opportunity to connect with other families as well as offer distracting and snacks for the children.
How often should my child be seen in the Turner Syndrome Clinic?
Typically patients will be seen in the Turner Syndrome Clinic on an annual basis, unless the Clinic Team recommends otherwise.
What should I to prepare ahead of time for an appointment at the Turner syndrome clinic?
In order to best serve your child, the Clinic requires that you complete a health history questionnaire prior to your appointment. In addition, the following records may be needed:
- Copy of the chromosome report (also known as a karyotype)
- Copy of the most recent IEP and Triennial IEP (if applicable)
- Significant medical records (cardiac studies, ultrasounds, lab results, etc.) or results of psychological testing.
How do I schedule an appointment in the Turner Syndrome Clinic?
The Turner Syndrome Clinic is held on the 4th Friday of each month. Not every child will need every provider, so families discuss their concerns during a call with the Clinic Coordinator, who then specifies which providers on the team may be able to help.
If you are interested in having your child seen in the Turner syndrome clinic, please contact:
Susan Howell, MS, CGC,
Genetic Counselor and Clinic Coordinator
Office: (720) 777-8375