| Together! - Free Internet Edition
Chromosome 22 Central www.c22c.org/ | Issue 39 | May 2008 A printed copy (or full pdf version via email) with more information, family stories and photos is available by paid membership only. See below for details. Our current issue is 12 pages with more family pictures and stories. Help support us by becoming a paid subscriber and receive the full version! If you would like to see this month's edition before deciding if you would like to be a paid member, please email steph.stpierre@gmail.com | |||
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WELCOME SPRING!
These
four young ladies share with us the joy of spring flowers... WELCOME to the more than 100 new families who have joined us | |||
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OUR WEBSITE: http://www.c22c.org/ *Message boards Our colour brochure is on our website - download and share around! Don’t forget to visit our website to sign up for one of our e-mail support lists. Connect with other members today! ALSO JOIN OUR NEW FACEBOOK GROUP! IF you have not done so before, please take a moment out and fill in a membership form on our website: http://www.nt.net/a815/form.htm Registering with our group helps us connect families with rare disorders, or who live close to each other! Don't forget that a complete newsletter available by regular mail (or full .pdf version electronically), which includes family stories, is available by paid membership only (see below to become a paid member). RECENTLY RELEASED JOURNAL ARTICLES Please visit the reference page of our website for updated listings of articles on: NOTICE OF ANNUAL GENERAL MEEETING C22C will hold it’s AGM on Sunday, July 27th at 4 p.m. at our Canadian Head Office. |
Natural History of Emanuel Syndrome:
RESEARCH UPDATE Thank you to all those who have submitted completed
questionnaires! I’ve received questionnaires for about 35 individuals
with Emanuel syndrome so far. We’re aiming for 50 – so if you
haven’t finished your questionnaire yet – I’d still love to receive
it! I’m hoping to have all completed questionnaires by May 31, 2008. If
we can achieve this, we will have preliminary data by August, which I will
be presenting at a scientific conference in Quebec, Canada. Once the data
is ready, the findings will be published in a medical journal, and right
here in the Chromosome 22 Central newsletter. Stay tuned! Thanks also to all those who completed family history
questionnaires for the t(11;22) carrier study. I’ve received 50 of these
so far, and would love to have as many as possible. I’ll continue to
take completed carrier questionnaires throughout the summer of 2008.
If you haven’t received a questionnaire, but would like to,
please contact our study co-ordinator, Stephanie St. Pierre, at steph.stpierre@gmail.com.
She can send you the questionnaire by mail or by email. You can also
contact me, Dr. Melissa Carter, at mcarter@cheo.on.ca
with questions about the study. My sincere thanks, Dr. Melissa Carter, Children's Hospital of Eastern
Ontario, Ottawa, Canada Geocaching for ALL Abilities
My daughter and I have
finally found something that we can do together. Geocaching. Finding the
right activity for us has been an ongoing process. We’ve done challenger
baseball, bowling, swimming, crafts, girl scouts . . . . the list goes on.
For various reasons they just did not hold our attention. Ok, so swimming
is still one of our favorites, but we are limited by seasonal changes.
But, when I read about geocaching I knew this was for us. Geocaching is a high tech treasure hunt. Containers are
hidden all over the world and listed on a webpage. With the aid of a GPSr
(global positioning system receiver) you go out and find it. Now you think this will be easy (and some of them are)
because you have the coordinates. Think again. The people who hide these
containers camouflage them so the general population will not find them.
And, what do you find inside? Depending on the size of the container,
which can be as small as the tip of your finger to as big as a barrel, you
may find small trinkets (small toys, compasses, costume jewelry, foreign
coins, etc) to trade for (if you take something you leave something) or,
if the cache is small, just a scroll to sign your name on. For us it is not so much what you find in the
container. It is more in the adventure of getting there. Whether it is an
urban cache or a deep woods hike, we always find something positive about
the trip. We have been to a cache in the middle of a river and even one
that was on top of a castle tower in Kansas City. Meandering trails at
nature centers to chert beds with small waterfalls. Because there are
caches everywhere, we are able to get out almost anywhere we go. We are
getting exercise. We are getting meditation time. We are getting together
time that is not some type of therapy. (Although I call geocaching my
therapy as often times my thoughts seem so clear after a nice hike.) And,
Ashlee (17, R22 – 22q13.33) loves it. Whether we are casually walking a
paved trail or scrambling over fallen trees and briars in the woods, she
has a big smile on her face. We began geocaching in February of 2007 and
have now decided on which cache we will go to for our 500th find.
It’s in a wooded area with only 4WD access. But, it located near the
remains of an old one room school house. A quarter mile hike in and
we’ll have fun exploring this unique piece of history. Each cache has its own webpage. On this page you will
get a description about the cache itself. It will be rated according to
difficulty and terrain. A difficulty 1 will be easy to find while a
difficulty 5 will be, well, difficult. Perhaps because there are many
hiding places or just because it is camouflaged very well into its hiding
place. The rating for terrain also goes from a 1, which would be
wheelchair accessible, to a 5 which will require special gear such as
repelling gear or scuba gear. This will allow you to choose if you want to
pursue a particular cache. We started out doing urban caches because I wasn’t
sure how well Ashlee would be able to handle the rugged terrain. She has
since shown me she is very sure footed. She has also learned that when you
don’t step on the rock you get your foot wet. I have learned to carry
extra shoes and socks. Ashlee is also very heat intolerant, so urban
caches with a rating of 1/1 are good in the summer time. This allows us to
go out in the evening and grab a couple of caches without tiring out. We
also like to cache at night when it is hot. And, Ashlee thinks it’s fun
to have the headlamps and flashlights. You can get more information about geocaching at www.geocaching.com.
And, if you want to follow our adventures you can find us under our
caching name Los Traviesos. But, hopefully you will want to join us in
this wonderful sport where the world is our playground. Debbie, mother & best friend to
Ashlee, 17, R22 | ||
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NEWS FROM THE 22q13 DELETION FOUNDATION The Phelan-McDermid Support Group will mark its 10th
anniversary this year during its conference in July in South Carolina. The
meeting is July 25-27 at the same Embassy Suites in Greenville where five of the
six previous meetings have been held.
This year's conference, sponsored by the 22q13 Deletion Foundation, is
expected to draw 500 people from around the world. Families from Brazil, Canada,
Denmark, Great Britain, Ireland, Germany and Australia, among other countries,
have attended previous conferences. To register for the conference, go to the 22q13
Deletion Foundation's Web site at www.22q13.org. Some of the topics on the
agenda are applied behavior analysis, transitioning for older children,
communication techniques, update on research efforts, 22q13 study results,
medical discussions, sessions for moms and dads, and, of course, valuable time
to meet other families and exchange ideas and tips for raising a child with
Phelan-McDermid Syndrome, also know as 22q13 Deletion Syndrome. Families of children with 22q13 Deletion Syndrome met
for the first time in 1998 in Greenville, S. Carolina. They were brought
together by Dr. Katy Phelan, Dr. Bob Saul, Dr. Curtis Rogers and Gail Stapleton,
all of the Greenwood Genetic Center in Greenwood, S. Carolina. The meeting was
made possible through the generous financial support of The Mikel Foundation of
Sullivan's Island, S. Carolina. The Mikel Foundation helps children and families
of children with genetic disorders through the purchase of durable medical
equipment and sponsorship of genetic research. Since that first conference, our
Support Group has grown to nearly 400 families. With the diagnosis becoming
better known and the test for it more commonly used by medical professionals,
new families are identified every week. Many join our Support Group, which is
the only single-source provider of educational and emotional support to families
who are affected by this chromosomal disorder. Two years after our first Support Group meeting, the
22q13 Deletion Foundation was formed and we've been off and running ever since.
Last year the all-volunteer Board of Directors allocated for the first time
money for research -- $16,000 for various projects -- and also set up an
endowment fund. A number of our families also worked at our booth at the Society
for Neuroscience Conference in San Diego, raising the international profile of
the Foundation and of Phelan-McDermid Syndrome. The Foundation and Support Group receive wonderful
support from its members. For example, one climbed to the top of Mt. Kilimanjaro
in Tanzania to raise awareness of Phelan-McDermid Syndrome and raise money for
our group. Also, the grandmother of one of our children ran a marathon to spread
the word about her wonderful grandchild and her disability. A number of our
families were featured in an article in the New York Times and in a video posted
to the newspaper's Web site. And finally, Tennessee is moving to designate an
official Phelan-McDermid Week, and Support Group families throughout the United
States are petitioning their state Legislatures to do the same. We're looking forward to our next 10 years. We expect
our membership will continue to grow, our fund-raising efforts will reap
generous benefits, and awareness of the syndrome to increase worldwide. But
mostly, we'll be here for the families who have been so critical to our success
and will be so crucial to our future.
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C22C Inc. is a registered Federal Non-Profit Organization, with charitable status in Canada. Canadian donations will receive a tax receipt. C22C Inc. (USA) is registered and with non-profit status and donations are eligible for a tax receipt. We are grateful for all donations which help keep us operating! Thank you to those of you who have supported us in the past with your generosity. If you can afford to, offer to pay a yearly membership fee. This will entitle you to a subscription to our complete version of our newsletter. It costs money to print, post, maintain our website as well as other expenses. Our suggested membership dues are: Families 1 year - $15, 2 years, $27, 3 years, $35. Either US funds for US/International Members, or Canadian funds for Canadian members. PLEASE SEND MEMBERSHIP FEES TO OUR CANADIAN ADDRESS or use PAYPAL - link located on our website. For donations from US members only, please submit them to our US Head Office. We have been operating for years with no mandatory fees. Please help us continue to operate and grow! Additional donations are tax-deductible and a tax-receipt will be provided (for US and Canadian Members). Free memberships will include as always, being listed with our network database of families, and free C22C NewsAlerts via email, offering info on upcoming events and research. | |||
