A funny thing happened on the way to Cincinnati, Ohio for the 22q-VCFS Family Conference;  After a 10 hour day of driving the 22Q Mystery Tour Bus through 5 states, we pulled into the Homerville, OH KOA campground.  As usual, while we hooked up the water, power, and got situated campers started stopping by to ask us "Hey!  What is the 22Q Mystery Tour?"  We handed out info and explained a bit about this syndrome which no one seems to know about and continued plugging in.  About 30 minutes passed and a golf cart pulled up.  A young lady hopped off the back and asked... "Is this 22q as in chromosome 22?"  My eyes lit up, and I said "Yes!  How did you know?"  The young mother (Cindy Hill) then said my son has a chromosome disorder called 2q23.1 Deletion Syndrome.  She went on to explain that 2q23.1 occurs in 1 of 1000,000 live births.  Yeah, one in a million!  There is one expert in the world and he lives in the Netherlands.  Kind of, put things in perspective for us last night.  To her knowledge there is 1 non-profit which supports the 2q23.1 community and 1 support group on Facebook.

We got to meet the whole family, grandma, grandpa, Cindy's husband Jerry and their two boys Jackson (2q23.1) and Clayton.   We chatted for nearly an hour, gave both boys a 22Q Mystery Tour T-shirt, took a few photos and exchanged information.  Cindy and Jerry's story is no different than the 22q11.2 Deletion Syndrome stories we hear every day.  Many of the symptoms are the same and the lack of knowledge amongst physicians is reminiscent of the 22q community plight.

Having said that, we were reminded tonight that the 22q community has come a long way.  Sometimes it's hard to recognize how truly lucky we are because there is still so much to be done.  But, we should be very proud of the over 100 support groups located around the world and keep in mind the family members and professionals who;ve been working tirelessly for years to create or improved 22q11.2 resources and education materials.  We have clinics and centers dedicated to 22q Deletion Syndrome.  We have conferences and meetings specific to the 22q deletion syndrome every single year.  We have a mobile awareness campaign, and professional athlete associated with 22q deletion syndrome.  There are over 10 non-profit organizations who's mission's aim to benefit families affected by 22q.  The 22q11.2 Deletion Syndrome journey is not an easy one, but we are leaps and bounds beyond so many of our "rare" brothers and sisters in our fight for public knowledge. 

If you have taken the time to read this post we'd appreciate it if you would take a moment share this post and/or cut and paste the following on your page:

Rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States, and 300 million people globally.  Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.  The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.  - The Global Genes Project

We close our eyes tonight wishing all of our "rare" brothers and sisters success in the fight for better understanding, fruitful resources, and greater public awareness.

Goodnight from the 22Q Mystery Tour,

Michelle Breedlove Sells

Executive Director

The Dempster Family Foundation