The CCHS Family Network (CCHSFN) is a voluntary, non-profit, self-help organization dedicated to providing support and information to families with children affected by congenital central hypoventilation syndrome. Congenital central hypoventilation syndrome is a rare neurological disorder of infancy and childhood characterized by a decrease in respiratory function during sleep. Established in 1989, the CCHS Family Support Network consists of families in the United States, Canada, and across the world who have children with CCHS. The network seeks to promote ongoing medical research into the cause, course, and treatment of CCHS; promotes the continuing education of the medical community about CCHS and affected individuals’ special needs; provides appropriate referrals; promotes patient advocacy; and provides members with a phone directory of affected families. The network also produces a regular newsletter and holds family conferences every few years.
1.) What does it mean to you personally to be a patient organization serving the rare community?
For the CCHS Family Network, it means ending the isolation and angst of families dealing with a rare diagnosis
where knowledge and treatment is extremely limited. Our focus is on education and family support first, and then networking families around the world in hopes of fostering greater advocacy and research. As CCHS is a multisystem disorder, affecting breathing, heart health and autonomic functions, our community manages a wide variety of unique medical issues. The CCHS Family Network delivers a platform where families can access information, advice, and encouragement. We also serve as a primary contact for physicians and researchers interacting with the CCHS community.
Additionally, in 2014, the CCHS Family Network established the CCHS Foundation with the mission of raising funds to support the expansion of research as well as enhance education and family support. This step has allowed our community to have a stronger voice in the search for better treatment options and hopefully someday, a cure. The Network also oversees a Research Advisory Board, which reviews research proposals and will disseminate annual grants beginning February 2016.
2.) What do you find your patient community values most from your organization?
Being such a rare disorder, with only ~1200 cases worldwide, our CCHS community is widely dispersed without access to area support groups or specialists in most cases. The CCHS Network offers a website with relevant patient materials and literature in an effort to empower families when making medical decisions. Our CCHS Family Network Facebook group allows families to interact in a secure environment where they can ask questions and share tips all hours of the day. Families especially value the CCHS Network educational conferences that take place every 2-3 years, allowing patients, parents and siblings to interface with peers as well as international experts. The Foundation also gives families an avenue to get involved and directly impact the direction of CCHS research by participating in fundraising activities.
3.) What are some of the challenges your organization has faced?
Like all rare disease organizations, we deal with the reality of reduced research funding and availability. CCHS is still treated with mechanical ventilation via ventilators or phrenic nerve pacers despite global medical advances. The rarity and complexity of CCHS, coupled with inadequate funding opportunities, has prevented the development of any drug intervention therapies for CCHS. However, recent advances in molecular research has led one researcher, Dr. Diego Fornasari, MD, PhD, University of Milan, to suggest we are on the cusp of medication breakthroughs for treating CCHS. A secondary issue centers on developments that have allowed our children to reach adulthood, serve as active members of society, and begin having children of their own. We are behind in preparing adult-care practitioners to manage this new generation of CCHS patients, leaving a gap in available care.
4.) What has been your most successful awareness campaign and/or fundraising event?
It has been an exciting year for the CCHS community. In January 2015, a short Polish documentary titled Our Curse was nominated for an Academy Award. This moving film depicted the trials and triumphs of a family dealing with a CCHS diagnosis shortly after birth. The stage was then set for a large marketing campaign shared by the CCHS Network, CCHS Foundation, and international CCHS organizations. Families were given a sense of hope and motivation based on the response of the film.
The CCHS Foundation then designated November 14th, 2015 as the first International CCHS Day with the intention of harnessing this new energy and recognition. A social media campaign titled “The CCHS No-Show Pajama Party”” was a great success with several hundred participants posting pictures of themselves in pajamas in support of CCHS. Several media outlets covered the story, community fundraisers were held around the world, and a 24-hour video game challenge took place. The Foundation exceeded its goal many times over and the monies will fund a research grant in 2016. This is all just the beginning of what promises to be a new era for CCHS as our community calls for action and change.
To watch the Academy Award nominated documentary, Our Curse, free of charge, please visit www.nytimes.com/video/opinion/100000003489430/our-curse.html.