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
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
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
We receive no formal funding. All of our support comes from
the generosity of our members.
About Stephanie St-Pierre, Founder:
1995, Maia was born to Stephanie and husband Martin after 4
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.
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
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.
Carter, M.D. is a Clinical Geneticist specializing in
Developmental Disabilities. She is an Assistant Professor in the
Department of Pediatrics at the Hospital for Sick Children in
Toronto, Ontario. Her clinical and research interests include
chromosomal causes of developmental disabilities and autism. She
completed her medical training at McMaster University in
Hamilton, Ontario, Clinical Genetics residency at the Children's
Hospital of Eastern Ontario in Ottawa, and Developmental
Pediatrics fellowship training at Holland Bloorview Kids
Rehabilitation Hospital and Sick Kids in Toronto.
Carter became interested in Emanuel syndrome when she was a
resident in Clinical Genetics. One of her patients was a young
girl with ES, and faced with limited and outdated medical
literature on the topic, she turned to Stephanie St-Pierre for
information. What followed was a wonderful partnership with
C22C, which produced the largest study of individuals with
Emanuel syndrome to date, as well as a paper investigating the
proposed link between carrying the 11;22 translocation and
breast cancer. Dr. Carter plans to continue studying the
developmental outcomes in children with chromosome disorders, in
particular those affecting chromosome 22.