The Cystinosis Foundation Conference was an
inspiring and enlightening lesson about caring for our Cystinosis Family. Joe
Eddings, father of Joe Jr. and Joshua best summarized the overall theme, " We
are all family."
More than 200 family members, physicians, and research
scientists attended the conference. Families from the United States, Canada and
England met at the relaxing and family friendly Waterville Valley Resort in New
Hampshire from August 2 - 5. Loving and emotional support was provided by the
many grandparents, aunts, uncles, and cousins who attended the
conference.
The conference began on Thursday morning with the Family
Profiles Session, moderated by Marybeth Krummenacker. This session provided
each of the families an opportunity to tell their individual stories. Although
there is a common theme to many of the stories, each family profile has its own
unique element that highlights an individual challenge that has been met. This
session is always a highlight of the conference, as many families learn that
they are not alone.
On Thursday afternoon, Phil Stinson gave an
excellent and in-depth presentation about the Legal and Educational Issues
Related to Cystinosis. Phil is an attorney dedicated to representing parents of
special needs children in legal matters relating to special education and
disability rights. On Thursday night we met at the Waterville Restaurant for a
Pizza Party. The food was delicious and the children and adults had a great
time making new friends and renewing old friendships.
On Friday we were
very fortunate to have three leading cystinosis researchers as guest speakers.
Dr. Schneider, University of California at San Diego, addressed the history of
the treatment of cystinosis from the 1930s through the present. Dr. William
Gahl, National Institutes of Health, discussed current cystinosis research
related to the cystinosis gene, cysteamine eye drops, and lung disease. Dr.
Doris A. Trauner, Neurologist University of California at San Diego, spoke of
her research regarding the neurobehavioral features of cystinosis. Dr.
Trauner's Cystinosis Research Group conducted psychometric testing on
volunteers. Neurological exams were also conducted. The non-invasive exams
helps Dr. Trauner and researchers learn more about an individual with
Cystinosis in terms of coordination, reflexes, sensory skills, language, and
other neurological functions.
Jessica Britt, Whitney Glaize, Rose
Kacoyannakis, Mack Maxwell and Jonathan Terry led the Adults with Cystinosis
Panel. The panel members answered many questions from parents of children with
cystinosis. We were inspired and privileged to witness the fortitude of these
individuals who have shaped their lives in the face of cystinosis. They are a
tremendous tribute to the creativity and resilience of the human spirit as they
lead productive and vital lives.
On Friday evening, we met back at the
Waterville Restaurant for a Pasta dinner. We relaxed and many of the children
and adults enjoyed a fun volley ball game.
Dr. Julie Ingelfinger, Chief,
Pediatric Nephrology at Massachusetts General Hospital, has been treating
people with Cystinosis for 31 years. On Saturday morning she discussed the
Kidneys and Cystinosis. Dr. Ingelfinger highlighted present and future
treatments to delay and prevent kidney damage and techniques for managing the
side affects of prednisone. Dr. Rick Kaskel, Chief, Pediatric Nephrology,
Montefiore Hospital, New York City, discussed dialysis and kidney transplants
in patients with cystinosis. Dr. Kaskel stressed the importance of the goal of
preemptive transplant to avoid dialysis if possible. Dr. Kaskel outlined many
aspects of end stage renal disease, dialysis, and kidney transplants. Dr. Frank
Santopietro, Children's Hospital, Boston, presented the Foot and Leg Disorders
related to Cystinosis. Dr. Santopietro discussed pain and physical problems
caused by intoeing, misalignment of ankles, knees, and hips. Dr. Santopietro
also discussed the various corrective treatments including orthotics, leg
braces, and surgery. Devin Adorjan and Shea Hammond assisted Dr. Santopietro in
his presentation.
On Saturday Afternoon, the medical panel answered many
questions that were far ranging and reflected the concerns of individuals with
cystinosis and parents of children with cystinosis. The outstanding Medical
panel was composed of Dr. William Gahl, Dr. Julie Ingelfinger, Dr. Rick Kaskel,
Dr. Frank Santopietro, Dr. Jerry Schneider, and Dr. Doris Trauner. Marti Avera
and Soraya Soto from CVS Procare, were very helpful in answering questions
related to the distribution of Cystagon
We were surprised by the
children and volunteers Saturday afternoon, when they danced into the
conference session singing a tribute thanking the doctors and researchers. The
children sang a beautiful song thanking the doctors for their tremendous
dedication that has led to the amazing insights, discoveries, and hope for a
bright future for all affected by cystinosis. Everyone enjoyed a delicious
Barbecue dinner on Saturday evening. As we all tearfully said our good-byes to
'our family", we exchanged phone numbers, addresses, and emails and vowed to
keep in touch until we see each other again.
5, 6, 7, 8 Let's talk about our doctors They're all so great! There's Drs. Gahl, Ingelfinger, Kaskel too. Schneider, Santopietro, Trauner, WHOO! Oh, Dr. Gahl, you're really neat. I went to NIH to see ya last week. You're a researcher, a scientist, and also my friend. When I have a problem, you have time to lend. Look over there! Why, its Dr. I! If you go to MGH, she's always nearby. She'll keep you happy, and your kidneys healthy. She's a doctor to Shea, Tommy and Chelsea. Next up here, its Dr. Kaskel. What a kidney expert! He's mighty swell. He's cool, he's nice, he's our guy! He's a resident of the state NY. Let's not forget our friend Dr. Schneider. He's our man, he's our number 1 fighter. He's from California, and helps us day and night. Makes us joyful, and never in fright. Next in our song, is Dr. Trauner. Without her help, we'd all be goners. She studies the brain, and neurology, She helps us learn in school, easily. This was our song about our doctors and friends. On these people we can always depend. Their homes are scattered around the U.S., But their hearts are with us, and we think they're the best! So thanks for listening, We hope you had fun. This song is great, And now it's all done. A little bit of Dr.Schneider in my life A little bit of Dr. Trauner, by my side A little bit of Dr. Ingelfinger's what I need A daily dose of eye drops helps my see Our good friend Dr. Kaskel is the one Our friend Dr. Gahl helps us a ton. Dr. Santopietro in this song All these awesome doctors keep us strong! A little bit of Schneider in my life A little bit of Trauner by my side. A little bit of Dr. I's what I need. A daily dose of eye drops helps me see!
Childcare, youth, and teen activities were joyous opportunities for children with cystinosis and their siblings to make new friends and have fun. The children participated in arts and crafts, swimming, boating, tennis, golf, biking, hiking, ice-skating, games, and much more. We are forever grateful to our loving and creative volunteers who cared for and entertained the children. Everyone made many lifelong memories and friendships!
The Cystinosis Conference was a tremendous success because of the many wonderful volunteers who donated so much of themselves, their time, and their love to the Cystinosis Families. The Cystinosis Foundation would like to thank Jack and Colleen Hammond for organizing and hosting this conference as well as, the many volunteers that help to make this Conference one of the best ever:
The Davis Family The Glueckert Family The Halloran Family Al & Anne Hammond The Hughes Family The Joachim Family |
The Krummenacker Family The Murphy Family The Reposa Family Shirley Schindler Meg Wilson |
Donations or in-kind support from the following organizations generously supported the conference:
Ben & Jerry's Ice Cream
Cape Cod Potato Chips
Charbeth's
Merchandise Corp.
CVS ProCare
Polaroid Very Fine Juice
Spaulding
Equipment