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 2000 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. You'd be amazed what parents can
learn from each other. We have a wealth of information between us
We also are happy to advertise studies from researchers. You can
click on the top tab to see which current studies you might be
able to participate in.
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
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 continues to field
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 an
adult literacy instructor. She has also volunteered her time to
local agencies that support her daughter Maia.
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.