|
| |
 |
Fall 2004 October, November, December
Hello Everyone,
Fall is almost over already!!!! The Holidays are here
once again; it is a time to reflect on all that we are
thankful for. I would like to thank each and every
officer and board of director that helps run this
Foundation: Michele Abdulaziz, Janet Gundling, Era Hall,
Luise Reading, Eric Rosenthal, Bonnie Tolles, and Karen
Tompkins. Our Foundation is 12 years old and I
frequently look back over the years reminiscing about
how and where we got started. When Joanne Eastwood, Mary
Van Damme and I first started this organization, part of
our mission was to educate professionals to diagnose our
children earlier. Well, seeing how many babies are
diagnosed today, I believe we’ve made great strides with
our initial mission! Our Foundation continues to work
hard on this goal to see that all families affected by
Joubert Syndrome know much earlier what the diagnosis is
for their children.
Every Fall, I travel to meetings of the Child Neurology
Society (CNS) and the American Society for Human
Genetics (ASHG). This year both meetings were in Canada.
Unfortunately, I was unable to attend the CNS meeting
due to my son Timmy being in the hospital. However, I
was able to make it to Toronto for the ASHG meeting. We
attend these meetings to continue to spread the word
about Joubert Syndrome and reach specialists that may
have never, or rarely, heard of Joubert Syndrome and its
related conditions. We are also able to encourage these
specialists to continue with the much needed research.
We have come a long way; I believe it is partly due to
our Foundation’s commitment to attend these events year
after year. We will continue to work on this goal in
2005’ representing our Foundation at other meetings that
have specialties related to Joubert Syndrome and its
symptoms.
Another of our original goals was to develop a network
of parents who share similar issues and concerns, and
offer a place where we can all support and help each
other. We continue to do that every day! A major
advantage we have today over 12 years ago is the
Internet. This helps us keep in touch much easier, and
with more people!
Research was an important objective for us in the past,
and it continues to be a major focus for us today. It is
wonderful that we have found so many dedicated
professionals that have taken an interest in this
syndrome. At each conference, we witness the dedication
and commitment of these professionals. They truly enjoy
being with our families! A big THANK YOU to each and
every professional for all you have done, and continue
to do, for our Foundation!!
The JSF&RCD has grown in all areas, from membership to
scientific research. We were fortunate this year to
experience the birth of our first Scientific Registry,
under the guidance and direction of Dr. Bernard Maria.
This Registry will tie in with the Foundation’s blood
bank. We now have a place where professionals can access
clinical data and blood samples through an easier, more
manageable system.
Over the years, our Scientific Advisory Board (SAB) has
been chaired and guided by Dr. Maria. As a result of the
development of the Scientific Registry, and the huge
responsibility that entails, the JSF&RCD Board of
Directors invited Dr. Melissa Parisi to chair the SAB.
Under Dr. Parisi’s leadership, this committee will
continue to help guide our Foundation in the area of
scientific research. We look forward to our partnership
with Dr. Parisi, and the other dedicated scientists we
are blessed to have working with us. Dr. Maria will be
able to devote more time to the registry, but will
remain an important part of the Scientific Advisory
Board.
Included in this newsletter is a Press Release (page 7)
and an article regarding research and a gene that was
discovered for Joubert Syndrome (page 11). It is a very
technical article, but it illustrates the invaluable
work the scientists are doing for our Foundation.
Our list of Professional Advisors has also grown to
include more physicians and therapists (see the back
cover of this newsletter, as well as our website). Over
the past year, we have talked about how we can improve
this resource for our families. Families can contact the
professionals on this list with questions and to seek
advice. If anyone has a therapist that you feel is
outstanding and would be interested in joining this
team, please contact me. We’d love to expand this list
even more.
In closing, I want to thank each of you— our extended
family. Our Foundation would not exist without all of
you. Please continue to share your stories and your
children with us. Enjoy your holidays, and Happy New
Year!
Your friend and President,
Cheryl Duquette
If you have any questions, please feel free to contact
Cheryl via email
or by phone 410-997-8084.
Back To
Newsletter Article Index
View other
President's Letters |
|
| |
|
The views expressed do
not necessarily reflect those of the donors. The articles,
announcements, and resources included on this website are
for information only and should not be considered as medical
advice. Please always consult your physician for medical
advice. The Joubert Syndrome Foundation & Related Cerebellar
Disorders does not endorse any product, service, or theory
referred to on the website.
|
|
|