Congential Central Hypoventilation Syndrome (CCHS)

        This is intended to provided information about the "CCHS Network" to parents of CCHS children and to inform other Health Care professionals about the existance of the "CCHS Network & Newsletters".

        CCHS stands for Congental Central Hypoventilation Syndrome (previously known as Ondine's curse). In layman's terms, CCHS means the neurological absense of the appropriate trigger mechanisms to provide adequate breathing over an extended period of time. CCHS was discovered in the late '70's with the advent of pediatric respirators that provided the mechanism to recognize and treat the symptoms. With increasing knowledge of CCHS and different treatments modualities, CCHS is now considered a treatable disorder. Previously, these children would have been diagnosed upon death as SIDS (Sudden Infant Death Syndrome) or as Congential Heart Disease (cor pulmonale).

        With increasing knowledge and trials of different treatment modalities, these children can now live a full and productive life. As with other diseases, CCHS has multiple presentations and degrees of severity. CCHS can be complicated by other neurological and/or cardiovascular disorders. In the severest form, the child does not adequately breathe when awake or when asleep. More typically, the child breathes adequately when awake but has elevated CO2 levels when sleep. Chronic high levels of C02 can lead to right-sided heart failure with an onset as late as nine months after birth. Thus, in the mildest of cases, the child may not demonstrate any problems identifiable by the parents until up to 10 months of age. This corresponds with the onset of deep sleep in infants. Early trials of weaning these children off ventilators have failed. Thus, this appears to be a permanat condition.

        In CCHS children, there appears to be about 25% incidence of Hirshspring's disease (a bowel disorder). Thanks to the CCHS network, parents and doctors have realized various common eye disorders are prevelant in many CCHS patients.

        With improvements in technology and an understanding of the disorder, CCHS children can live active and productive lives. Treatments of the disorder have include phrenic nerve pacing, trachestomy and positive pressure ventilation, negative pressure ventilation, and more recently positive pressure nasal mask ventilation or combinations of the above.
        Typically, the CCHS child breathes adequately when awake but lacks an effective respiratory drive while asleep. The CCHS Newsletters has reported additional abnormalities including; "temper tandrums" or breath holding spells, unconsciousness, marked heart rate variability (bradycardia and tachycardia), cardiac arrhythmias and cyanotic episodes. Symptomatology is frequently prevelent when the child concentrates on a task, is engrossed in very active play, or is feeling "under the weather" secondary to a viral or bacterial infection.
        In 1989, Many VaanderLaan of New York, mother of Nico, founded the CCHS Network from her home as a way to share information about her son's condition with others with the same condition. She published and distributed the first CCHS Newsletter to about 20 identified families in the USA. As word of the Network and Newsletter spread, the Network encompassed more families. There are now over 100 identified families and the Newsletter is distributed internationally to families from Scotland, New Zealand, and Canada. Together the families raised corporate sponsorship to put on a "first successful" CCHS conference in Michigan in 1993 with 13 families in attendance. This conference represented the first time families could discuss many common problems and was truly enlightening and educational. The second CCHS Family Conference, with 45 families represented was held in Fort Myers, Florida in June 1995.
        The Newsletters provide parents with personal family accounts of their child and family life. Articles are written and submitted by the parents, nurses, physicians and respiratory therapists. Through the newsletter, parents and caretakers have learned about findings common to CCHS children such as heat intolerance, irritability, apnea, cold sweats (sign of hypoventilation), seizures, loss of unconsciousness, cyanosis, steady heart rates (that is, heart rates that do not flucuate with absense of breathing), heart rate variability and abnormalities (most often bradycardia), etc. It should be noted that not all children exhibit the same traits.
        The Newsletters also disseminate information about ongoing clinical research. There are Pediatric Ophthalmologists specializing in ocular abnormalities in CCHS children. Other scientists and Pediatric Subspecialists are concentrating on finding a genetic link and identifying the pathophysiology of the disorder.
        The network distributes a physician directory and a family directory to facilitate "learning by experience". A talk back section provides families with common insights, advice to situations raised in the newsletters. Families now regularly communicate with each other by telephone, letters, and small family get-togethers. Some families have met socially while on vacation and others have visited for a first hand account of "life with CCHS".
        One mother commented on the newsletters, "It's so nice to have the support of other parents and to not feel alone anymore!". Another family writes about the first ever CCHS Family Conference: "One week after our CCHS Conference and my head is still spinning! I have learned so much. Seeing older kids doing so well helped to resolve alot of anxiety."
        If you know of any family who would benefit from these newsletters, please forward a copy of this information to the family and their physican.
      For more information please contact:
        Mary VanderLaan (USA or abroad) 71 Maple Street Oneonta, New York USA 13820 VanderlaanM@hartwick.edu