Rare Disease at Children’s Mercy
Rare Disease at Children’s Mercy
It can be lonely and frustrating to have a child with an undiagnosed condition. Often families must be their own advocates during the long journey to find a diagnosis.
Children’s Mercy is here to treat children with rare disease. With highly trained clinicians focused on multi-disciplinary care for numerous rare diseases, Children’s Mercy is the best place in the region for rare disease diagnosis, treatment and research.
Our care and services are informed by those who understand rare disease best – our patients and families. Read more about our Rare Patient Family Advisory Council.
Our expertise for your child
Children’s Mercy offers several specialty clinics for children who have rare diseases.
The Super Q Express Clinic at Children's Mercy provides expert medical care from a comprehensive team of clinicians for children with 22q11.2 deletion syndrome and 22q11.2 duplication.
The Angelman Syndrome Clinic at Children’s Mercy is one-of-a-kind in the region and designed to be a medical home for children with Angelman syndrome and their families.
Our clinic provides coordinated screening, diagnosis, management, and genetic counseling for genetic cardiac disease in children.
Children’s Mercy has a cross-disciplinary team of specialists who work together to address the full range of issues affecting patients with Dravet Syndrome.
The Pediatric Joint Hypermobility (pJH) and Ehlers Danlos Syndrome (EDS) Program at Children’s Mercy Kansas City offers multidisciplinary, coordinated care provided by EDS-knowledgeable providers to families and children with pJH and EDS.
The Genetics Clinic at Children's Mercy provides state-of-the-art evaluation, diagnosis, treatment and counseling for a variety of inherited conditions and chromosome disorders and genetic birth defects.
Our Comprehensive Colorectal Clinic takes a team-based approach to care through surgery and long-term care options.
The multidisciplinary Prader-Willi Syndrome Clinic provides children and teens with Prader-Willi syndrome (PWS) the comprehensive care this complex disorder requires.
In this multidisciplinary clinic, doctors in several different specialties work together to address your child's medical needs in a single visit.
Children's Mercy's Turner Syndrome Clinic, Great HeighTS Clinic, is one of the largest Turner Syndrome programs in the country, providing comprehensive care for more than 70 children in the region.
Researching rare disease
Genomic Answers for Kids (GA4K) is changing the landscape of pediatric genomics through the most advanced system for rare disease diagnosis in the world. The team has surpassed 2,000 rare diagnoses through their groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to a number of “firsts” in the field of genomics research.
Rare disease research programs
This lab studies how human genetics impacts an individual's immunity, and aims to improve immunotherapies and vaccines.
Also known as the Yadav Lab, this lab's mission is to develop more effective treatment options for kids with brain tumors.
This lab studies pharmacogenetics, the effect of a person's genetic code on his/her response to medication.
Dr. Kaela Varberg and her team study the development of the placenta and its effect on pregnancy success.
Dr. Jay Vivian is researching potential effective therapy for the devastating pediatric genetic disorder Vici Syndrome.
This group of research programs aims to understand how genetic differences in humans can affect how diseases are diagnosed and treated.
11Q Chromosome deletion: Londyn's story
Londyn's mother, Karla, knew something was wrong with her baby. She followed her gut and persisted until Londyn received the diagnosis and care she needed at Children's Mercy Kansas City.
Angelman Syndrome: Maddie's Story
When Maddie was diagnosed with Angelman syndrome, it changed the course of her family’s life forever, setting them on the path to help launch the Angelman Syndrome Clinic at Children’s Mercy.
Rare Patient Family Advisory Council
The Rare Patient Family Advisory Council works in partnership with the Children’s Mercy Genetics Clinic staff members to advocate on behalf of parents and patients for the best quality of care and research.