Carmen's Story

My name is Liz, and my daughter Carmen is four years old.  Carmen was diagnosed with late-onset CCHS (Congenital Central Hypoventilation Syndrome) when she was 16 months old.

We live in Tennessee, but traveled to San Fransisco in December 2007 to visit family.  Carmen had a cold and was very congested.  In the early morning, after Christmas Day, I woke Carmen to try to get her to cough up her secretions.  She aspirated and went limp in my arms.  My brother-in-law is an ER physician, and he was resuscitating Carmen while my sister called 911.

Carmen was admitted to UCSF Children's Hospital, diagnosed with RSV, and was put on a ventilator.  She failed two extubations, and the doctors were telling us that something else was wrong.  Carmen had every test imaginable (X-rays, MRI, EEG, echocardiogram, and a sleep study, etc.) to rule things out.  The sleep study showed that she was retaining CO2 only while she was asleep.  The doctors began to prepare us for the possibility of Carmen having CCHS, which is a very rare genetic disorder.  She was trached on January 17, 2008, and a week later we learned that Carmen does have a PHOX2B mutation of 20/25.

After 33 days in the PICU at UCSF, we took a medical flight to Vanderbilt Medical Center.  We were there for about a week to learn about trach care and the ventilator, before returning home.  We have never had home nursing care for Carmen, because we have not qualified for any assistance, and my husband's insurance (BCBS) does not cover private nursing services.  I quit my job so I could care for Carmen full time.

Carmen is an only child.  She attends a community based inclusion preschool so she can interact with her peers.  She does not have any developmental delays, so our public school system does not think she need to be in school yet.  They will only begin providing nursing services at school once she begins Kindergarten.  So, I go to school with her to provide her trach care needs and to hook up her ventilator when she naps.  Carmen is strong-willed, bright, sassy, and fun!  Despite her trach, she can be extremely loud, even without her speaking valve.  We look forward to the day she can be decannulated, and either be ventilated via Bipap or with a diaphragmatic pacemaker.

Thanks for reading our story!

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/