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!