Chromosome 22 Central is a parent run support organization. We started in 1997 with just a handful of families who had children with what is now known as Emanuel Syndrome, and now we support over 1000 families in all corners of the world, who have many different chromosome 22 disorders.

When we started out, the Internet was in its infancy, and we connected mainly by email lists. With social networking today, it is so easy to go on-line and instantly find supportive families who can help you.

Our group offers basic information on the main chromosome 22 disorders, but mostly we are about connecting and learning from each other. Even our get togethers (I hesitate to call them conferences) are informal and family style. No workshops, just good talk among friends. You'd be amazed what parents can learn from each other. We have a wealth of information between us all.

C22C has had previous get togethers in places like Niagara Falls, Boston, Raleigh, Orlando and even co-hosted at the World Congress on Chromosome Abnormalities in Texas in 2004. You will have to join us at a future event to understand the true feeling of comfort among people who totally understand you. It feels like family, even though you have just met.

We also work to help promote other groups and their missions to support chromosome 22 disorders. We advertise studies from researchers. We put out brochures and newsletters, and help spread public awareness about chromosome 22 conditions.

We have successfully campaigned to change the name of Supernumerary der(22) Syndrome to Emanuel Syndrome, and gotten support in having the condition acknowledged in OMIM and on the Genetests website. We were able to help coordinate one of the largest clinical studies on Emanuel Syndrome to date, published in 2009. We continue to connect families, and help promote awareness of chromosome 22 conditions through our newsletters and social networking sites.

We receive no formal funding. All of our support comes from the generosity of our members.

About Stephanie St-Pierre, Founder:

In 1995, Maia was born to Stephanie and husband Martin after 4 miscarriages, and diagnosed with what is now called Emanuel Syndrome. Stephanie found out she carried the balanced 11/22 translocation. C22C stemmed from her search to find others and help gather information on the condition, and she began Chromosome 22 Central shortly thereafter in Canada. Our office is now based in the United States. Stephanie maintains c22c.org, the group's database of members, and publishes the group's quarterly newsletter.

Stephanie and Martin also have two younger children, adopted from China, and live in Timmins, Ontario. Stephanie has a Bachelor's Degree in Social Development Studies, and works as a legal assistant in a firm specializing in civil litigation. She has also volunteered her time to local agencies that support her daughter Maia. Maia is in a special needs classroom at a local high school and loves movies and music.

steph.stpierre@c22c.org

About Murney Rinhom, President:

Murney Rinholm has been president of Chromosome 22 Central (USA) since 2002.  She is mother to Atle Rinholm, age 18, with Emanuel Syndrome.   She lives in Fuquay Varina, North Carolina with her family and is originally from Saskatoon, Sk, Canada where she obtained her Bachelor’s Degree in Education.  She currently works as a paralegal specializing in estates and guardianships.  She has also served as a parent & family advocate for the State of North Carolina’s Office of Emergency Medical Services.  Atle attends high school and enjoys horseback riding and miracle league baseball. 

murney.rinholm@c22c.org

About Dr. Melissa Carter, Medical Advisor: