Neurogenetics Multidisciplinary Clinic at Children’s Hospital Colorado
“The whole team at Colorado is talking about your child and really coming up with holistic plans. With all of the challenges they are all communicating as a team, and I think there is great benefit in that. “
-Yssa Woody, co-Founder of ring14 USA, a partner advocacy group in the Neurogenetics Multidisciplinary Clinic at Children’s Hospital Colorado
Children’s Hospital Colorado
Rare genetic disorders often cause a variety of health issues including seizures, sleep and breathing disturbances, gastroenterology issues, motor disabilities, and communication challenges. Children and adults with the STXBP1 disorder suffer many of these problems. That’s why a multidisciplinary strategy is so important for patient care. And, having a center that approaches the whole condition is paramount to ensuring each patient receives the highest-quality care, designed just for their needs.
We are thrilled to launch a Neurogenetics Multidisciplinary Clinic at the Children’s Hospital Colorado. We have partnered with 3 other rare disease organizations to develop the most comprehensive program possible by sharing the clinic space and expert practitioners. In this clinic, we aim to provide comprehensive patient care while better informing research on each disorder. Now, we have multiple multidisciplinary clinics in the US with specific expertise in STXBP1 disorders. Our list of clinics is here.
The Neurogenetics Multidisciplinary Clinic at the Children’s Hospital Colorado clinic launched January 2022, and is held on two Fridays of a month. An optional neuropsychology evaluation is provided the day before.
The Clinic flyer is here.
The Neurogenetics Pediatric Clinic website is here.
To schedule an appointment, contact Nurse Coordinator Tristen Dinkel at +1.720.777.7453 or BNDP@childrenscolorado.org.
An informational webinar was held on 10 January 2022 with clinic co-Directors, Dr. Scott Demarest and Dr. Margarita Saenz.
What's the motivation for a family to come in a day early for a neuropsychology evaluation?
There is immense value from completing an evaluation like this because it really targets the strengths and areas of growth of your child. And this way, we don't lose any ground where we could be implementing certain interventions, or even targeting existing interventions to try to get the most of our time that we can, so that your child can reach their learning potential because that is everyone's shared goal.
-Dr. Andrea Miele, PhD
Hear Dr. Andrea Miele discuss the value of neuropsychology evaluations.
Purpose of the Clinic
Children’s Hospital Colorado’s services include consultation and evaluation for all people attending our clinic of all ages. Colorado’s expert providers ensure they are receiving the needed therapies, treatments, and services to support the best possible quality of llife. They work to participate in natural history data collection and ground-breaking clinical research trials, collaborating with providers across the country and the world. Colorado’s hope is to work with families and their primary medical team to create a care plan that places the child’s needs at the center of care.
Neurogenetics Multidisciplinary Clinic Team at the Children’s Hospital Colorado
Program Providers
Neurology
Neuropsychology
Special Care Clinic
Rehabilitation Medicine
Physical Therapy
Occupational Therapy
Speech Therapy
Palliative Care
Social Work
Nutrition
Nursing
Family Navigator
Geneticist
Genetic Counselor
Developmental Pediatrician
While we work hard to discover a cure for STXBP1 disorders, we can do a great deal right now to enhance the quality of life for those afflicted with this rare genetic disorder by participating in multidisciplinary centers like the Children’s Hospital Colorado. And, by working with these clinics we will help researchers improve their understanding of the whole STXBP1 disorders condition while designing cutting-edge management strategies for our patients.