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!

Kimi's Story

My name is Kimi, and I'm a 31 year old with autosomal dominant Emery Dreifuss Muscular Dystrophy.  EDMD is one of the more rare muscular dystrophies.  I was actually first diagnosed with Spinal Muscular Atrophy, but was recently re-diagnosed with EDMD (long story).  I've experienced a faster progression of EDMD than is typical.  I was able to walk as a young child, but received my "driver's licence" at the age of 5.  I was completely wheelchair dependent by the age of 8.  I started experiencing respiratory issues at the age of 11.  From the age of 11 to 13, I was in and out of the hospital for pneumonia.  My saving grace was the Bipap.  Once I started using Bipap at night at the age of 13, I felt much more rested and the occurrence of respiratory illness decreased tremendously.  During this time I also started experiencing cardiac issues, which at the time were thought to be unrelated to my neuromuscular disease.  It later turned out they were part of the EDMD progression.  

I was pretty stable until my Junior year of college.  I got very sick during the 2nd semester of my Junior year, and ended up being hospitalized for 6 months.  This is when I was trached and vented.  I also received my G/J tube during this hospitalization.  I use the LTV 950 and have a 5.5 pediatric Bivona cuffed trach.  At first I was on the vent 24/7, but after 4 years I was able to sprint off the vent during the day.  I now still sprint off the vent on a Passy Muir valve during the day, but must take vent breaks.  In addition to the vent/trach, I have a pacemaker, severe scoliosis, motility issues, GERD, and chronic abdominal, neck, and back pain. 

Now to the fun stuff... I enjoy hanging out with my great friends, shopping, mini scrap booking, card making (visit my Etsy site www.craftykfox.etsy.com), music, and Dunkin Donuts Iced Mocha Lattes.  I graduated Summa Cum Laude with a BS in Bio/Chem from Immaculata Univ, and pursued my Masters in Bioethics at UPENN.  I run a world wide Yahoo group for people affected by SMA called SMAFRIENDS.  I also run the Yahoo group for my college sorority's alums.  I volunteer for the state of PA by serving on a committee that advises the Governor and the Secretary of Public of Welfare on the Medicaid Waivers which allow disabled citizens to live independently in the community by providing them with nurses and/or attendants.  I mainly advocate for those on vents.  Another highlight of my life was being engaged to a wonderful guy named Eric, who unfortunately passed away before we could get married. 

My number one goal in life is to inspire others to do their best.  I personally need to learn how to be thankful for what I have, and hopefully in the process teach others to do the same.  Oh, and I don't want to grow up and be just ordinary!