Welcome to the CCHS Family Network!
ANNOUNCING: CCHS Family Network Foundation AND Research Advisory Boards
The CCHS Family Network is pleased to announce the establishment of the CCHS Family Network Foundation and the CCHS Research Advisory Board. After 25+ years of international networking and advocacy, the Family Network will expand its mission to include research development and support. The fundraising effort will be led by Melinda Riccitelli and Rebecca Martine. Monies raised will be used to fund Research Grants (70%) as well as continue the Network’s mission of Education and Outreach (20%), and Family Support (10%) (e.g. conference scholarships).
A major focus of the CCHS Family Network Foundation will be to support CCHS research through research grant awards. All grant applications will be carefully reviewed by the newly established Research Advisory Board following strict NIH protocol. Dr. Eddy Yang will Chair this team of exceptional CCHS professionals and family members that includes Dr. Ha Trang, Dr. Maida Chen, Dr. Adam Froyum Roise, Sheila Kun, RN, BSN, BA, MSN, Dr. Vandana Dole, and Dr. Mary Vanderlaan.
We hope you and your loved ones will consider making a donation to the CCHS Family Network Foundation. Donations can be made online by clicking the “Donate” button on the Family Network webpage (www.cchsnetwork.org) or mailing a donation to:
CCHS Family Network, CCHS Foundation
PO Box # 51088
Livonia, MI 48151
All donations are tax exempt and you will receive an acknowledgement of your donation for your tax records.
We are grateful for your support. Please follow our announcements on Facebook (CCHS Family Network at https://www.facebook.com/
CCHS - Congenital Central Hypoventilation Syndrome
CCHS is a multisystem disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS patient’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is sluggish during awake hours and absent to varying degrees during sleep, serious illness, and/or stress.
In 2003 independent research efforts in France, the US and Italy confirmed the key role of a de novo mutation of the PHOX2B gene in over 90% of CCHS cases. But the “size” of that mutation varies among CCHS patients, ranging from 20/25 to 20/33. Studies confirm that there is a wide range of affectedness in CCHS and suggest that there may be other candidate genes for explaining CCHS. Research confirms that each child of a CCHS patient has a 50% chance of also having CCHS. Since 2003, a blood test for the PHOX2B mutation has been available – see the Diagnostics page. For a discussion of the genetics involved in the phox2b mutation see an explanation >here. written for us by Melinda Riccitelli, CCHS mom and Professor of Biology at Mira Costa College
While most CCHS patients breathe adequately, though shallowly, while awake, observation of their respiratory status is required for optimal outcome and mechanical ventilation is required for sleep, illness or other periods of low blood oxygenation. O2 and CO2 monitoring during sleep is optimal. Studies suggest that up to 17% of CCHS children may require 24-hour ventilation support. These patients can benefit from phrenic nerve pacing during the day and alternative ventilation support overnight.
One study (2004) of 196 CCHS patients found that about 16% of CCHS patients also suffered from Hirschsprungs Disease and 18% reported gastro-esophageal reflux. A range of ophthalmologic and cardiac issues were reported in 46% and 19% of CCHS patients respectively. Patients also reported seizures (42%), recurrent pneumonia (41%), developmental delays (45%), learning disabilities (30%), fainting episodes (25%) and irregularities of body temperature control (43%). Thus, significant numbers of CCHS patients report being affected by a range of accompanying medical issues (Vanderlaan, et. al., Pediatric Pulmonology 37: 217-229, 2004).
Success in Care at Home
While these health issues initially appear daunting, with appropriate home care, family support and careful medical supervision, CCHS children can lead fulfilling and productive, near-normal lives. The study cited above found that over 60% of the children were making normal progress in school, while another group required some or significant special educational support. With advances in home health care technology, such as portable ventilators, oximeters and ETCO2 monitors, has come optimal health management and much-improved prognoses for the infants diagnosed with CCHS. (On topics such as schooling, nursing support, annual testing and medical care, see this study and other reading cited on the Literature page.) The oldest CCHS patients today are in their 30s and 40s—CCHS young adults are in college, in the workplace, and some are having their own families.
Key to the CCHS patient’s longevity is informed medical supervision by medical professionals who also work to support the family in optimizing the home healthcare and school or work settings. This team approach has translated into good outcomes for the great majority of CCHS families.
Educating families and medical professionals about CCHS is a principal purpose of the CCHS Family Network. We work to share research findings, family observations, “survival techniques,” and other news and information to all those affected by congenital central hypoventilation syndrome. One recent example of a serious issue we educated patients and their physicians about was the use/abuse of alcohol among a few CCHS young people. That the use of alcohol or illicit drugs can very easily become deadly for these patients with impaired respiratory drive is news that we could very quickly send out with warnings to our families and their care-givers. In 2008 we alerted CCHS families to the association of various mutation levels with the risk of sudden death due to long cardiac pauses. We urged all patients to use Holter monitoring annually to watch for these intermittent pauses. When pauses of 3 seconds or more are observed in the CCHS patient, cardiac pacing may likely be recommended by CCHS physicians.
We Are Here
…to support CCHS patients and families. Let us know how we can best support you, and, please share your experiences with us! Caring, Sharing, Learning...Together!
Do you need help registering? Please read this >tutorial