5th International Conference on Lowe Syndrome
June 28-30, 1996; Anaheim, California
How far we've come!
by Jane Gallery, 1996 Conference Chair and LSA Vice President
The 5th International Conference on Lowe Syndrome, which was held in June, 1996, in Anaheim, California, provided an occasion to consider how far we've come as an organization in the ten years since our first conference in 1986.
Advances in medical science and in our own understandings have been the highlights of that decade. We now know what the genetic deficiency is that causes Lowe syndrome and where that deficiency occurs in the cell, thanks to the efforts of Dr. Nussbaum and his research team. From Dr. Lewis we've learned about all the problems associated with the visual impairment in Lowe syndrome as well as carrier detection through eye examinations.
Dr. Wappner organized information relating to the medical management of Lowe syndrome to ensure proper care and required medications so parents can advise their home doctors. Dr. Charnas brought us to the NIH, with the pokings, probings and tests that provided a comprehensive understanding of all the health issues in Lowe syndrome. He also validated and described the behavior disorder known to families, broadened the NIH research to include behavior, and tested medications to modify behavior and control seizures.
Kaye McSpadden orchestrated, organized and optimized the LSA every step of the way. She encouraged us to get our eyes examined, to go to NIH, to give cell samples, to try the behavior medications. She raised the behavior issues continually, planned a regional conference on behavior, and with the help of Kathy Schroerlucke and Zel Dolinsky conducted a Comprehensive Survey of Behaviors in Lowe syndrome. She kept in touch with the doctors, managed the LSA medical research grant program, reported in the newsletter all the latest findings and helped bring us all together at conferences to learn, share and go forward with new enthusiasm.
The families brought their children to the conferences; for many it was the first time they had seen another boy with Lowe syndrome. They talked, shared experiences and compared notes - and they kept coming back, from as far away as England.
1996 celebrates ten years of conferences, ten years of learning from the experts and from each other.
Conference Summary
Friday evening's program opened with a flashback by Kaye McSpadden to the first LSA Conference ten years ago. Her slides and humor-laden commentary set an upbeat tone for the conference and laid the groundwork to reflect on how far we've come. Following her presentation, a parent panel made up of Jackie F., Julie and David O., Sharon and Jeff S., and Rick S. addressed topics and generated comments on issues as diverse as medications, surgeries, schools, vacations and sibling relations.
Saturday's program featured several presentations by physicians. The doctors who have brought us so much understanding and hope in dealing with all the medical implications of Lowe syndrome presented information, answered our endless questions and offered advice, not only during the formal sessions but throughout the weekend.
Dr. Nussbaum's presentation of the "Discovery of the Enzyme Deficiency in Lowe Syndrome" provided fascinating new information on what causes this complex disorder. His discovery that the Lowe syndrome enzyme deficiency is in the golgi apparatus (a certain part of the cell) is a scientific breakthrough in cellular research. Sharon Suchy, Ph.D., a member of Dr. Nussbaum's research team, was also in attendance. They reaffirmed their commitment to learning as much as they can about what causes Lowe syndrome. Kaye McSpadden and Candy Smith awarded Dr. Nussbaum the LSA Medical Research Award at the conclusion of his presentation.
Dr. Charnas brought us up to date on the "Neurological Bases of Behavior Disorders and Seizures" and discussed the success being achieved with various medications for modifying behavior. Dr. Lewis gave a presentation with Dr. Nussbaum on carrier detection and family planning. Dr. Wappner discussed the medical management of Lowe syndrome and provided a printed comprehensive explanation of the health issues requiring attention. Dr. Charnas advised us on how to get the best care and advice from our doctors.
To wrap up the jam-packed Saturday program, this group of experts participated in a panel that fielded questions on every aspect of the disorder. Once again it was abundantly evident how fortunate the LSA is to have such a dedicated, knowledgeable, caring and understanding group of doctors committed to helping us learn about Lowe syndrome.
The conference program also featured presentations from social and psychological experts on family stress and behavior problems. Although his time was limited, Donny Valliere provided us with a lot of information on recognizing and coping with the stress associated with having Lowe syndrome in the family. He left us with a checklist of the sources and manifestations of stress and the advice that we must be aware and communicative.
Jason Smith used his combined expertise in behavior management and direct experience with an affected young man, Fritz (who missed his first conference because he was having a better time at home) to lay out a program for analyzing the function of problem behaviors in Lowe syndrome. He showed us how to deal with the causes as well as the manifestations of inappropriate behaviors and told the story of Fritz's success.
When Saturday evening rolled around we found ourselves outside under a beautiful California sky, enjoying an outdoor buffet, lively music, and a "celebrity" guest appearance. That world famous movie star, Mickey Mouse himself, showed up and provided endless hugs, smiles and photo opportunities. He graciously stayed till everyone had a chance to meet him personally and the last picture was taken. Dave Kinnoin performed his Disney hits and energized the crowd to sing along and participate in the performance. He was so successful that our very own William stepped up to the microphone and carried on his own show. Dave generously donated his time, handed out tapes and videos and built a place in our hearts and memories.
Candy Smith closed the conference by presenting each of the families
with a "Parent Advocate's Tool Kit" containing various items
and a list of helpful words of advice for coping as parents of a special
needs children.
Special recognition for special people
Candy Smith had the inspiration and the courage to hold a conference in California. Her unflagging attention to every detail in planning and running the event brought the dream to a wonderful reality. She showed us that we can hold a conference anywhere - and announced that our next one would be in Boston in 1998.
Pam H. organized and managed the childcare operation which ran beautifully, with the help of a small army of local workers as well as the help of some of the older siblings attending the conference. Jane Gallery planned the program, working out numerous presentation details with the speakers. Kathy Schroerlucke organized, designed and produced all the printed conference materials. Kaye McSpadden provided guidance, leadership and advice every step of the way. Patty S. provided the wisdom of her experience in coordinating the facilities operation.
Trenton K. was our official photographer. Nadine and Sally M. staffed the registration table.
Three families traveled all the way from England and Youichi Mizusawa, M.D., a nephrologist, came all the way from Japan. We recognize all the families, friends and professionals who came to learn, teach and share, continuing the tradition of LSA conferences.
During the last morning of the conference a few participants (adults & children) took time to write messages for the newsletter. Here they are!
"This weekend at the conference was very special to me, mostly
because of the kids. I enjoyed talking to all the parents, but especially
the kids. It was fantastic to see the boys having lots of fun with Dave
Kinnoin, the entertainer. I can't wait to go to our next conference
to see all the families again. Until then...God bless all our families.
I can't wait to see you at our next conference."
"We had a wonderful time at the conference. Friendships were renewed
and new friendships were made that we hold dear. All the doctors are
terrific and we want to say thank you, keep up the superior work. Information
we learned will help us help our son to become the best he can be. Thanks
to all who worked hard to make this possible. See you in Boston!"
"I enjoyed renewing old acquaintances and meeting new friends
as well as discussing the progress of our sons and hearing the latest
research."
"New aspects of psychology, counseling, and gene information were
very welcome and informative. Also, the interaction with other participants
and the location (as far as the city and its surrounding areas and offerings)
were grand."
"We have had a great time too. We have found out so much from
the speakers, the families and the children themselves. We are going
home with fresh targets and strategies! Thanks to everyone. See you
again soon."
"I liked the playroom! I did some painting. I also liked Dave
Kinoin."
"I loved the childcare, the singer and Mickey Mouse. The singer
was a star and so was I. Thank you."
"We had a great time! We learned so much and I am more reassured
and comforted knowing we aren't the only Lowe syndrome family, though
in New Mexico it feels that way sometimes. Watch out those of you who
have e-mail! I love e-mail and will want to keep in touch. We are new
to Lowe's (our son is 13 months old and was just diagnosed three months
ago), so I may have the urge to talk with someone who understands. Our
son enjoyed the childcare and the hands made with paint are precious
to us. Thank you for everything!"
"We enjoyed seeing everyone again! It is also encouraging for us to see the parents of the older children - they have given us great advice! It was fun to see some interaction between our boys. "
On The Beam, Fall, 1996 (15:3), Special Conference Edition
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