Deborah's Story

Hi!  I'm a young adult with CCHS (Congenital Central Hypoventilation Syndrome.) Normally, you don't have to think about breathing - the autonomic center in your brain tells your body to breathe even when you are asleep.  In kids born with CCHS, however, something goes wrong with this center, and they "forget" to breathe, especially while asleep. CCHS used to be called Ondine's Curse (from the German myth about Ondine, a water nymph who curses her unfaithful husband to cease breathing if he should ever fall asleep again.)  I have a trach and am on an LTV ventilator 24/7.  I also have a J-tube for continuous feeds, and use a wheelchair to help me get around.  I take several medications every day, and get weekly SQ IgG infusions of Hizentra.  I see a number of specialists (pulmonary, ENT, neurology, and cardiology, etc.) to help keep me healthy, and I also work with some terrific therapists in occupational, physical, and speech therapy.

Josh's Story

Josh has ROHHAD (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation.)  He was diagnosed in the fall of 2005 when he was nine years old.  ROHHAD is so rare, that at that time, there were only 25 known cases in the world.  Josh was featured in a documentary about ROHHAD that aired on both the Discovery Channel and the Discovery Health Channel.


If you had met Josh prior to 2005, you would have thought he was completely healthy.  He was an active boy who loved playing sports and riding his bike.  In March 2005, while recovering from a sore throat, Josh became very sleepy and couldn't keep his eyes open.  He collapsed while getting out of the bath and spiked a fever of 103.  His parents took Josh to an urgent care center, thinking he needed an antibiotic. Instead, the doctor said he was very sick and called the paramedics. Josh was rushed to the emergency room by ambulance, and just hours later went into respiratory arrest.  He had to be revived five times before being intubated and placed on a ventilator.  There was some swelling in Josh's brain, but his doctors couldn't find any cause for his respiratory failure.


Just a few months later, Josh got another sore throat and was again having trouble staying awake.  His parents rushed him to a doctor who told them to back to the ER, after seeing that Josh's oxygen saturation in his blood was too low (80%)  While at the ER, Josh's O2 levels continued to drop (to 68%) and he was transferred to another hospital. By the following day, he was back on a ventilator.  Josh was in the hospital for over a month before a doctor from Chicago was able to help his doctors figure out what was causing the problem.  Josh was diagnosed with ROHHAD, although at the time it was called Late Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction. Doctors still do not know what causes it or how to cure it.  Josh needed a tracheostomy to allow him to be ventilated long term, but no one knew how long he would need it.  His doctors now believe Josh will need it the rest of his life.  In the five years since his diagnosis, Josh has gone on a Make A Wish trip to Disney World, attended a conference on hypoventilation syndromes, and participated in an MRI study at UCLA.


In June 2009, Josh had diaphragmatic (breathing) pacemakers implanted in his chest to allow him to be free of the ventilator several hours a day.  He survived both the swine flu and double pneumonia in January 2010.  He is now almost 14, and getting ready to start Junior High this fall.  He has a staff of nurses who take care of his at home and at school.  Josh takes daily growth hormone injections and gets a testosterone shot once a month. He is also on medication to help with dehydration issues and steroids to help with his body temperature problems.


Josh's mom, Vanessa, has a background in journalism and television. She spent nine years as a producer and assignment editor in a CBS affiliate newsroom in West Texas before Josh got sick.  She has been blogging about Josh and ROHHAD for the past few years.  Her next goal is to get certified as a respiratory therapist so she can use what she's learned with Josh about trachs, ventilators, and breathing treatments, etc. to help others and earn a better living.  Vanessa is very active in raising awareness about ROHHAD in hopes that a cure will be found. You are welcome to check out Vanessa's Blog at: http://vwootenworld.blogspot.com/

Welcome to the Kids with Vents Blog!

Kids with Vents started in June 2010, and we are growing fast!  We have 60 members with 55 vent kids and young adults.  Our kids come from all over the United States, and we also have several international members from the Philippines, Singapore, Canada, and the UK!  


Our Blog features member profiles, group events, helpful information, and lots of great links!  Our support group link is: http://health.groups.yahoo.com/group/Kids_with_Vents/  Please contact us at kids_with_vents@yahoo.com for more information.


Hope to see you at Kids with Vents!