Cystinosis Foundation Family Conference
August 2 - 5, 2000
Waterville Valley Resort, New Hampshire

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.

Thank you Doctors!
(To the tune of "Mambo No. 5" Lyrics by Kayla Hammond)

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!

Children's Activities

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!

Volunteers

      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:

Conference Supporters

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

Conference Reflections:

• "We just returned home and wanted to once again thank you guys for all your hard work on the conference. It was an excellent location and we all had a great time."
  Thanks.
  Darrell Keenie
  
  
• "I can't tell everyone how wonderful this conference was. I can't tell the families how much I miss them and how much I loved seeing my kids playing with theirs. I too pray that someday all the families that have a desire to be at a conference can find a way because it is the best of all worlds. I could cry thinking of the time that will pass before I will see my extended 'family'. Thank you for helping to give my family such wonderful memories."
  Missing NH,
  Frankie McGinnis, mother of Laura w and Christopher w/o
  
  
• We enjoyed nature so much there. The mountains and water were very beautiful. Chris and Eric enjoyed the work out facilities and soccer field and got to be with friends from the past. Steve met some new friends. Terri and I got to associate the e-mail names to the faces. We got to visit with many of the wonderful people that attended. The mountain biking was a first for us and much enjoyed. The Jacuzzi was important after the rigorous exercise. My only regret is that I didn't get to talk with each person there in nice long visits. The food was very tasty!
  Thanks."
  Love,
  Carl Schleuder
  
  
• "For those of you that were able to make the Conference in NH hope you all had a safe and uneventful trip back home. For those who could not make it, I second the motion and add to my wish list that some day all families who want to shall be able to attend a conference. It is truly hard to find the right words to describe a conference to others. It is one thing that all Cystinosis Families should be able to experience at least once.
  
  I have been going over and over in my mind the last few days trying to put into words and sum up my many thoughts to say to the new families I meet and of course the old friendships that were renewed face to face again, (except as I sit here looking at the last suitcase to be unpacked thinking that maybe if I don't put it away I can just pretend that it is almost time for a conference and I am just getting ready to go instead of wishing that it wasn't over already), but of course I can't find the right words.
  
  Miss everyone already,
  Pam Woodward, back home in Utah, Mom to Tahnie cystinosis 17 (in 6 days) and Sierra 10
  
  
• "We want to thank you for a wonderful conference. We really enjoyed meeting everyone and seeing old friends again. We really appreciate all your efforts."
  Thank you.
  Sandy Glaize
  
  
• I echo Shirley's sentiments. Being a grandparent, it was heart warming to meet the extended families, grandparents, sisters, aunts and uncles, other relatives and friends, who provide emotional support to the families through out the year.. I hope they will continue to be a presence in Conferences to come. The Conference site provided a carefree and safe environment for the children. Who could forget Morgan and Laura as they shared turns on a tricycle in the Town Square? They joyously rode the trike with abandonment, forgetting all their meds for awhile. I treasured some quiet moments of Thanksgiving. Thanks for the wonderful place called Waterville that brought the families and their extended families together for fellowship and the latest developments in cystinosis. Thanks to the researchers and the strides made in the past decade. Thanks for the future; I believe one of our goals will be making Conferences available to every family who wants to attend."
  Jean Hobbs Hotz grandmother of Joshua Hotz 18

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