RARE Child Neurology Workgroup

Children and their families who live with rare conditions often feel isolated. We want to change isolation to empowerment.

The CNF/Global Genes RARE Child Neurology Workgroup* was created to better understand the needs of children living with rare genetic conditions that have a neurologic component. The Workgroup’s first priority was to determine this population and in February, we introduced The RareChildNeuro 75% Fact: It is estimated that over 3,000 genetic conditions affect the neurologic system – 75% of these conditions affect children. 

Further exploration into “The RareChildNeuro 75% Fact” is important for future initiatives. We want children and families to know that they belong to a community that can share support, educational resources, and opportunities for networking. The RareChildNeuro community should feel empowered to actively participate in their health care in partnership with their provider teams; including child neurologists.

We want to reach out to this population, to uncover needs and how we might be able to help. If you’d like to be a part of the network we are building, please let us know:

*The RARE Child Neurology Workgroup includes select members from Global Genes Corporate Alliance and CNF Corporate Advisory Board that advise both organization’s educational and advocacy priorities for children living with rare neurologic conditions.

 

Global Genes is one of the leading rare disease patient advocacy organizations in the world whose mission is to Connect, Empower and Inspire the global rare disease community. Visit  www.globalgenes.org to see the resources they have for patient, parents, caregivers, and advocates.

SUPPORT IS AVAILABLE! The Child Neurology Foundation Family Support and Empowerment Program (FSEP) offers families a free, direct connection with an experienced, compassionate Peer Support Specialist to help navigate the journey of disease diagnosis, treatment, and management for a child living with a neurologic condition. Along with offering relational support, Peer Support Specialists seek to empower families by sharing sound information and helpful resources. To connect, click here.

The RareChildNeuro 75% Fact was estimated from data mining efforts in OMIM (Online Mendelian Inheritance in Man®): An Online Catalog of Human Genes and Genetic Disorders, in collaboration with and in-kind assistance from the Monarch Initiative and Lapidus Data Inc.

We thank the following individuals for their assistance with this effort: Monarch Initiative colleagues: Dr Sebastian Kohler (NeuroCure Cluster of Excellence; Berlin, Germany); Dr Peter Robinson (The Jackson Laboratory for Genomic Medicine; Farmington, CT, USA); Dr Melissa Haendel (Department of Medical Informatics & Clinical Epidemiology; OHSU; Portland, OR, USA); and David Lapidus (Lapidus Data Inc, Oklahoma City, OK, USA)