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!
I can somewhat relate to this story. My son, Jack, who was 16 months at the time for about a week his sleeping patterns were completely off! Two days later he had a blue spell and i called 911 and was taken to the Children's hospital. He was stable in the ER and about an hour into getting a room he had to be stimulated and falling sleep with his O2 dipping into 70%. They did an emergency intubation and on October 1 he was trached. He was tested numerous times as well for the PHOX2B and tested positive for NPRAM.
ReplyDeleteHe will be turing two next month and he is much more stable than he's ever been.