|
| |
 |
Summer 2004 July, August, September
Hello Everyone,
Summer is over, kids are going back to school (make a
choice), the conference is over (very sad)....
Exciting news flash fresh off the press!!! 2 genes
discovered for Joubert Syndrome!!! Please see attached
articles on these discoveries in this newsletter.
I have to say this was one of the best conferences yet.
Every year it gets better, every year we have new
families join us and this makes it better. I want to
take this time to recap the conference for those that
could not make it this time.
We started off on Monday July 26th with a "Meet and
Greet", our wonderfully humorous and energetic Era Hall
presented this. I always look forward to seeing what fun
things she has planned for us. At the beginning of this
session the Joubert Syndrome Foundation unveiled our new
name and logo. So to all our members that were not able
to attend the conference we are officially now "The
Joubert Syndrome Foundation and Related Cerebellar
Disorders" organization.
While our "meet and greet" was going on, all the
scientists had their own meet and greet getting prepared
for the next few days of research projects. They then
came in and gave a short summary of their up to date
research progress. This was a very informative session
and it prepared us for the next few days on their
research direction.
During this hour Dr. Melissa Parisi announced her
discovery of the first "gene" for JSF and RCD. This is a
major breakthrough and very exciting news, they continue
to look for the remainder genes. Please look for her
summary in this newsletter with all the details.
Research clinics at this conference included an
appointment with Dr. Maria and his team and Dr. Melissa
Parisi, and Dr. Ian Glass. This hour was spent going
through questions families have about their child,
progress, etc and included the team of specialists
helping the families to complete the information packet
for the scientific registry that will be starting very
soon.
We also had Dr. Steve Braddock and Dr. John Carey doing
some testing and Data collecting for Dysmorphology. It
was very exciting to see this new sophisticated
equipment he brought with him and actually took some 3D
photographs to better look at the facial features.
Dr. Nicole Takahashi joined us and did a follow up and
interviewed new families with a family history study.
This study continues to look at the autism prevelance in
Joubert Syndrome and Related disorders.
Dr. Kathleen Keely- Deidrick joined us for studies on
Child and Family Functioning. This study is also a
follow up for past patients to see how things have
changed and if they haven’t along with new patients
being added to this on going study. It looks at the
behaviors of our children and the families supports,
coping strategies.
Dr. Joe Gleeson and Dr. Brad Schlagger did an amazing
job on a new study added this year. They did an fMRI
study that looks at the brains activity while being
asked to stay awake during an MRI and asked to do some
small tasks while in the machine.
The TMS (Transcranial Magnetic Stimulation) this study
looks at what side of the brain controls what hand and
what side of the body. These were studies that the
participants had to be evaluated first and pass the
screening and age requirements.
Dr. Ian Glass joined us to discuss a very sensitive
issue for us all on having another child. I feel very
fortunate to have Ian working with our group and if
anyone can help us sort it all out, Ian is the right
person. He has the knowledge and expertise, but most of
all a very sensitive and sincere approach. He also met
with some families individually and will continue to do
so for any families interested. He discussed prenatal
diagnosis, options for conception etc.
All the clinics ran VERY smoothly and I look forward to
seeing some nice results from these studies. The
families I know took time also to do some sight seeing
during their time off or in between appointments.
The hotel this year was the BEST hotel I have had in
yet. The meeting space lay out was perfect for our
research clinic needs, everything was all on one floor
and including the daycare and pool area. The hotel staff
were so accommodating for our group, that there are not
enough words to express the gratitude and thanks we
have. Prior to the conference beginning, the hotel
management had a meeting with me, bringing in every
representative of the hotel wanting to know how they can
serve our group and what our needs were. This meant a
lot to me knowing how much the families would appreciate
this service.
It showed every day as we were all greeted with warm
smiles by the staff. Our children were allowed to be
themselves, crawling, scooting or running. I observed
many just taking walks or playing in the hallways while
waiting patiently for their appointments.
After the conclusion of the research clinics on
Wednesday afternoon we all joined after dinner and their
was "Teen/ Adult Panel" hosted by Luise Reading. Luise
did a great job recruiting some participants including
surveys and answers to some pre arranged questions to
individuals that could not join us. The participants in
person included Luise’s daughter Judy who is 31, Lee
Sellman who is 20, Charles Hine 46, William Hine, 44,
Stephanie Duquette 21, and Timothy Duquette 18.
This evening ended with a beautiful tribute and memorial
for all our angels in heaven. Michele and Mike Abdulaziz
hosted the memorial and we had many families attended
that lost a child from complications. They spoke about
their child, we had a candle lighting for each child and
a slide show. This will be the first of many, as all
these children are a part of our "family" and will never
be forgotten.
The last 2 days of the conference were family workshops.
We had workshops on behavior, transitioning into the
adult system, finding childcare, Financial Planning, and
we had a session with one of the foundation’s specialist
(a favorite of all) Diane Lewis, speech pathologist. She
touched on speech and articulation with an overview of
some of the newest techniques.
This year the conference committee hired a Daycare
agency to provide care for the kids. The feedback I have
received so far was that it was worth doing. We were
also fortunate to have a previous board
member/treasurer/conference committee member/foundation
travel agent Stephanie Frazer help this year in
organizing all the children’s field trips and
activities. The children had representatives from the
local zoo visit them, the local aquarium, and a magician
came to entertain all over an ice cream social. The
children also participated in arts and crafts daily. It
seemed they all had fun. I know my kids are asking when
the next one is.
We ended the conference with our traditional silent
auction, award ceremony, dinner and dancing. From the
looks and sound everyone had a GREAT time!!! Although
then the end had to come and we had to say "till next
time" it wasn’t good bye. We all came in on Monday with
some never meeting anyone else before this and by the
end we are all connected, by our beautiful children.
The big question that I receive every conference……….
Where will the next one be?????? Too soon to tell but
some great ideas have been given to me. On the
conference questionnaire (which is very important to
send to me if you have not done so already) has 3
locations mentioned… they are Dallas, Los Angeles, and
Las Vegas. The feedback I received so far leaning
towards Las Vegas. Do not hold this to me since I do not
have all evaluations back yet. I would love to hear from
everyone on which of these 3 places would you attend the
most. Eventually I will hold it in all these locations
but I would like to start with the top vote first. I
also would like to hear feedback about having it in St.
Louis again. I received positive feedback of having it
in the same location each year and St. Louis seemed to
be central for most and easy to get to. So please email
me, write, or call, I would love votes from the entire
membership.
Before I end this letter for the summer issue of the
newsletter. I want to spread the word that the board is
always looking for new families to join us. We have so
many jobs and committees. Take some of those talents
that you may think we can’t use and offer them. We are a
very creative board and would love help. Even if it is a
few hours a month or a year. We are also accepting
résumé’s for individuals interested in becoming a board
member in the future. Our board rotates in January of
each year. Occasionally we have a position to fill even
sooner, if board members or officers have to step down
and can not finish their term. The board terms are 3
year terms. Please send your resume for our files if you
are interested.
That’s it for this issue have a safe and healthy fall
and I hope for a smooth transition back to school for
everyone
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.
|
|
|