17th  Annual Cystinosis  Foundation  Conference 2001

Sponsored by   Sigma-Tau Logo



Families Picture Slide Show

Summary of the Conference

   
   

This Conference was made possible because of very generous funding provided by Sigma Tau Pharmaceuticals, Inc.
We owe them our heartfelt thanks for this event!


CONFERENCE SUMMARY
165 PEOPLE FROM AROUND THE WORLD

Click any of the pictures to view them enlarged.

The following is a series of articles compiled
by ace reporter,   Carl Schleuder

Cystinosis Foundation too much for Defcon 9

From Alexis Park Resort & Spa - Sunday, July 15, 2001- Black shirted, rings and studs through skin adorned, multi colored hair hoards from the Computer industry "Hacker's" group called Defcon 9 or DC9 held it's 6th conference at the famous off-the-strip-non-gambling resort, Alexis Park Resort and Spa. Sweet and cute Cystinotic children and adults with parents, relatives and friends poured into the lobby of the hotel and mixed like clean pure water with thick black crude oil with the DC9 crowd. The Cystinosis group began their 17th conference, easily overcame and took over the resort and squeezed out the dark Defcon 9 element.
(Actually the Defcon 9 conference was over and they were leaving anyway...........but I needed an interesting tag line, so....)

Conference Kick-Off

Stone's at Welcome ReceptionThe 17th International Cystinosis Foundation Conference began Sunday with an informal dinner of pizza and pop while conference information and book bags with blue t-shirts and other goodies for enjoying Las Vegas at night were handed out by wonderful volunteers. Karen Ritchie and husband Frank were the organizers of the conference and were on top of each challenge. Friends from past conferences hugged each other in warm greetings while newcomers were invited into anxiety reducing dinner chats. The group headed off for either the Strip or their rooms after the food ran out.

Tears, Empathy and Smiles at the 1st Day of the Cystinosis Conference, Building Community

Day 1 of the Cystinosis Conference started when each family got their picture taken and told everyone their names and where they were from. Later, thirty one people shared their experiences with the affects of Cystinosis on themselves or their families. Some notable quotes are as follows: Joe Eddings - "Your God is in Control is what we stress with our kids", was a response to comparing the "kids" to "normal" from another party. Heather Wegerif - when Bruce, her dad tried to remove a brown spot on here teddy bear said, "don't Dad, the brown spot on the Teddy Bear is the way it's maker wanted it. I have Cystinosis because that's the way I'm supposed to be".

Teens broke out to decide how to spend $'s for them. They decided to go out on the town too see the volcano at the Mirage Hotel, Pirate ships at Treasure Island, Dancing Waters at Ballagio Hotel, the light show on the Luxor Egyption Pyramid shaped hotel, the rain forest inside the Mirage, the white tiger in the Mirage and got food at McDonalds in two super stretch Limousines with rap music shook the street. (A couple of "rebels" went to a Sugar Ray concert at the Hard Rock Cafe across the street and missed the ride). Breakfast was fresh fruits, cresent rolls, cinnamin rolls, blueberry and bran muffins, coffee, tea and fresh squeezed juices. Lunch was provided as well with the kids getting Taco Bell fare while the rest of the crowd ate salads, assorted meats, wonderful desserts with the usual drinks. People left that day and continued to get to know each other better as they made plans for the evening's entertainment.

Doctors "Fry the Brains" of Cystinosis Conference Goers On Day 2 - Tuesday, July 17, 2001, Las Vegas, NV

"Information overload", "TMI - too much information for my tiny brain", "WOW, was that neat", "those folks are amazing!, I'm so glad they are helping us!" , "It's like they're from another world with that language of theirs, and I'm so glad they are!" were some of the various comments heard after Day 2 of the Cystinosis Conference.

Dr. Jerry Schneider Dr. Jerry Schneider from the University of California at San Diego was the first Doctor to speak at the Cystinosis Conference. His talk was a review of The History of Cystinosis up to the Present. Some highlights are: failure to thrive - death before age 2, 40 years ago, Jess Thoene's work for Dr. Schneider which developed Cysteamine therapy, Phosphocysteamine improvement, eye drops, carnatine studies for muscle growth and strength, Cystagon approval, growth hormone studies, neurology studies for learning differences, nephrology improvements for care and transplant of kidneys, the gene discovery and subsequent breakdown of different types of Cystinosis and the new prilosec study for stomach relief to name a few.

Soraya Soto from ProCare discussed CVS Procare the specialty pharmacy provider of Cystagon, the primary treatment for Cystinosis in removing the eventually harmful cystine amino acid from most of the cells. Ms. Soto provided this web address for information and to contact her company:
http://Procare.ad@cvsprocare.com Soraya emphasized that if we let her know our difficulties, she will work to improve them.

Before Eyedrop Treatment Crystals in the Eye        The Eye after Eyedrop Treatment After Eyedrop Treatment


Dr. William Gahl from the National Institutes of Health gave an eye opening ,( ha ha ) slide show and review of Dr. William Gahl the "Slit Lamp Eye Pictures" data record for effectiveness of eye drops if taken one drop per hour for 8 to 10 times per day. Striking differences in crystall filled eyes vs. treated eyes with little or no crystals showed clearly that the eye drops work almost in a miraculous way. Diligence works with the eye drops. Complacency will kill a Cystinotic's eyes. Presentations with bright lights typically hurt our kid's eyes. Dr. Gahl mentioned that Cystinosis is now believed to have started around 500 to 700 A.D. in the country we now call Germany. The eye portion of the disease is called CTNS 928 G to A Ocular Cystinosis. Standard code is denoted : GGA. The defect in 928 is denoted: AGA.Justina Lambert and Ken Mehrling of Sigma Tau

Ken Mehrling and Justina Lambert from Sigma Tau gave a talk on the status of the eye drop formulation. Jess Thoene contacted Sigma Tau in 1994 to get eye drop approval. By the end of this year Expedited Review is to be submitted. The cysteamine was an unstable compound for eye drops originally. Sigma Tau worked on formulas with preservative and found a suitable way to get an old formulation to FDA for approval with a target date of sometime in 2002.Dr. Janet Whitley of the FDA

Janet L. Whitley, Ph.D. works in the FDA, (Food and Drug Administration), Office of Orphan Product Development. Janet said that a product like ours can now receive a 6 month review for Fastrack Review which is reserved for Critical Disease. Cysteamine eye drops fit the category called IND or Investigational New Drug. A couple of web pages suggested by Dr. Whitley were: http://www.fda.gov/orphan/ and http:// www.clinicaltrials.gov with search words like cysteamine eye drops.Dr. Al Sabban

Dr. Al-Sabban from Saudia Arabia, a former speaker at the 1998 Conference held in Ann Arbor, Michigan, USA, gave results of data collected in his country on his patients. There are differences in Cystinosis in his patients from those described in published documentation. Dr. Al-Sabban has been sharing data with Dr. Antignac in France to look at genetic coding for the differences.

Dr. Jess Thoene from Tulane University in New Orleans, Louisiana gave his talk on CTNS Expression in vitro and Renal Targeting in vivo (or to us lay men, the knockout mouse and how we_all are doin' ). Most of what Dr. Thoene said was in microbiologist language, so I just didn't understand it. What I thought I heard, though was that his lab has produced a mouse with a form of Cystinosis by creating a total deletion of genetic code in the front part of the gene's structure. The mice created like this haven't been able to reproduce other mice with the same defect as of this time. (See Dr. Antignac's talk for related information.) This was an awesome talk which is partly responsible for "Brain Frying"!Dr. Minnie Sarwal

Dr. Minnie Sarwal from Stanford University, California discussed New Approaches to Kidney Transplant (steroid-free). There have been a few people that do not have Cystinosis that have have been successful to date with a steroid-free protocall after kidney transplant. Lowered steroid doses on existing patients to become steroid-free has had a low percentage of success. Starting fresh right after transplant seems to have a better survival rate than trying to back off steroids at a later date. More work is being done in this area. This was very exciting news for Conference goers.
Dr. Corrine Antignac
Dr. Corrine Antignac from Hospital Necker Enfants, Malades Paris, France gave her Update on the CTNS Mutations in France: The role of cystinosin. Dr. Antignac surprised the whole conference with the announcement that her team also had a so called knock out mouse with a total genetic code deletion occuring at the opposite end of the defect string from Dr. Thoene's team. Both researchers got together to discuss working jointly to achieve more, faster. This was very exciting for the Cystinosis community.
Dr. Cairns
Dr. Don Cairns from England, U.K. gave his talk on Time Release Cystine Depletion Medication research. Dr. Cairns, originally from Scotland, had the three top men in the Cystinosis Microbiology field riveted to his chemical formulae and explanations of trials completed and trials to go with a vastly underfunded lab. The lay folk in the audience were further "brain fried" trying grasp the odd symbols once seen in high school or college years ago. CLICK HERE to view Dr. Cairns PowerPoint Presentation.
Diane Dorman of NORD
Diane Dorman represented NORD, the National Organization for Rare Disorders in her talk: Rare Diseases and Political Policy. Diane discussed what must be done to be an effective lobbyist in Washington. The average time to pass a bill in Congress is 7 years. Working with the staffs of each Congressman and Senator is a necessity informing them in clear and concise language and writing. Written communication is vital in getting proper attention for your cause. Because the staffs are usually small and grossly overworked, it is fundamental to make contact with them brief and clear. Diane can be reached at email: ddorman@rarediseases.org
Don Hammond
Don Hammond was the man that brought the Cystinosis group closer together summarizing what we had experienced together and helping us de-stress with a fun acting out song. Adventure Dome tickets were handed out to kids and teens to play games and ride rides inside the dome at Circus Circus Hotel. Buffet dinners were suggested for excellent variety of quality food. The prices weren't as cheap as the old days I guess at $20 to $22 dollars per person at places like Aladdin's Palace and the Rio Hotel.

Pam and Tahny Woodward

Day Three of the Conference, Wednesday July 18, 2001, Las Vegas, Nevada, USA -
Brain Affected, Feet & Legs Affected, Dr. Panel is questioned, Parent's Struggle presented.

Dr. Doris Trauner

Dr. Doris Trauner from the University of California, San Diego California, USA, gave her talk with MS Power Point on the Cognitive Differences between early and late onset Cystinosis. Dr. Trauner is a pediatric neurologist specializing in the affects of Cystinosis on the brain. "Infantile Nephropathic Cystinosis is characterized by early feeding problems, low muscle tone, gross and fine motor co-ordinatioin and tremors in a small percent of cases". Visual memory, auditory memory, written memory and spacial rotation mentally are weaknesses.

Dr. Angela Ballantyne from the University of California San Diego spoke and showed slides on Cognitive Aspects of Cystinosis. Typical traits and/or errors that Cystinotics make are: getting lost easily, drawing or constructing is difficult, forgetting to carry when adding and getting the direction of oprations mixed up. What can be done? Dr. Ballantyne we must monitor performance both fun and academic, be aware of general environment like too much light, verbalize the math problems and list the steps of a process to help get the directions straight. She showed the Cystinosis patients drew visual pictures vs. the sample population which dramatically let the audience see how different Cystinosis perception can be.

Dr. Frank SantopietroDr. Frank Santopietro from the Boston MA area spoke and showed pictures of Cystinosis and its affects on legs/feet. Dr. Santopietro is a pediatrist working on the feet and legs of athletes of the New England Patriots Pro NFL football team and local colleges in the Boston area. He sees six Cystinosis patients in the Boston and would like to start research specific to Cystinosis this year. He saw many of the Cystinosis kids and young adults at the conference finding initial trends in this group for "knock Knee" appearance and "Flat Feet". The flat feet force the knee inward causing the knock knee. Dr. Santopietro uses custom made soft full form foam pieces called "orthotics" to reshape the feet and shift loads to help correct walks. He recommends braces of various kinds for each special condition kind of like braces on teeth to gradually guide and shape to better alignment and proper amount of motion. He has successfully helped several Cystinosis Children avoid painful leg surgery.

Dr.'s Panel     Medical Panel          Dr.'s Panel


A Medical Panel composed of Dr.s Al-Sabban, Antignac, Ballantyne, Cairn, Gahl, Thoene, Trauner, Sarwal, Schneider, Whitley, Del Monte, and Dr. Craig Langman, from Uof M, tried to answer some tough questions and answered some pretty standard ones for the Conference veterans. One typical question was will the male Cystinosis patients be sterile as previous thought since many have been on cysteamine therapy of some kind since 18 months old or younger? Answer: They probably aren't sterile if they have been compliant taking the cysteamine medicines. There is however an indication that much damage is done early in the reproductive male organs. We'll see. There are 350 patients in Europe on Cystagon, and probably 400+ patients in the USA. The word is still not out to all areas how very effective the Cystagon is for the removal of cystine in cells and how it can reduce long term trouble. Lunch was next!
Karen Ritchie
Karen Ritchie, conference organizer, gave a talk and MS Power Point presentation titled Shattered Dreams - The Impact of Childhood Disability: The Parent's Struggle. Karen works in the Placer County Office of Education where she was exposed to research from Ken Moses, Ph.D. She explained how Cystinosis parents experience a sudden loss of dreams and ideals for their child and must grieve in stages much like the ones for death, i.e. denial, anxiety, fear, guilt, depression and anger. Karen reviewed stress with a chronic health patient and it's affects on the care givers. The talk was powerful and deeply affected all in the room. She had a paper smile half face on a stick that she had to put up whenever she cried or lost it momentarily which was humorous and sad at the same time.

Don Hammond got everyone together to review in small groups how the conference made us feel. This was a time for us to get out some suppressed feelings and brainstorm ideas that would help the Cystinosis community. One revelation was that the Dad's that actually participate in their families care often don't have any close personal friends to go out with and blow off steam with. There are many more. The Cystinosis Research Network emails or Cystinosis Foundation Chat Room might be good places to get this type of discussion to carry on? We sang another song and all felt better! Don left us with a tease line about wanting to review spiritual work. You've got my attention!

Lance Burton and Zack Ritchie


Lance Burton Master Magician and Illusionist invited the entire Cystinosis group to a free show at the fabulous Lance Burton Theatre in the Monte Carlo Hotel. Approximately 150 people boarded luxurious buses and arrived at the front of the line to enter the theatre. After an AWSOME show in which one of our own, Bethany Reuter did some magic with Lance and got a special T-shirt saying so, Channel 8 TV News showed up to video report the Cystinosis Conference and Lance's generosity. A memorable evening for all involved! Thanks again Lance Burton!

Day 4, last day of the Cystinosis Conference, Thursday July 19, 2001 - Las Vegas, NV, USA
Cystinosis Adults and Parents WOW the Conference crowd with determination, energy, tenacity and fortitude to succeed in the basics of daily life with Cystinosis.

Karen Ritchie started off the blue skied morning (as each day had perfect weather and relatively cool weather for Las Vegas in the Summer - 90's with very low humidity) with Inclusion of Medically Fragile Children In all Child Care Settings. The I.E.P.C. process was discussed explaining that it is a Federal Mandate to Teach your child.

Josh Hotz, a 19 year old Cystinotic, shared that drinking caffeine helps A.D.D., (Attention Deficit Disorder). He spoke about respect, life and earning a living.

Bruce Mund discussed Tetany, a calcium deficiency condition characterized by arched back, toes pointed down, claw locked hands and frozen limbs. It is frequently caused by vomiting and/ or acidosis. An emergency procedure for it is to breathe into a paper bag. Tums help many people too.

Dan Preciado spoke for he and Erin his Cystinotic wife who was tired from dialysis. They get awesome support from family and are enjoying him working at a good job with good Social Security Insurance benefits.

Ruth Heinzerlung talked next mentioning her husband Dean (both have Cystinosis) and she have ten years of marriage now. She covered kidney transplants, the way she has traveled her life's path and adapting the tools and equipment at work to her needs to prevent new problems. Ruth works for an HMO.

Mack Maxwell told us he is a graduate from U. of Arlington, Texas, USA. He does physical work outs, programs main frame computers. His eyes are getting better now that he has eye drops. He found the Cystinosis people in August of 1999 after living 35 years without treatment (through the internet).

Mark Vaughan likewise told us he didn't know about the Cystinosis group until two months ago. He is an adult with Cystinosis. Mark acts in the theatre company he started at 15 years old. He works long hours in the St. Louis, Missouri, USA area. After having two mini-strokes, his neurologist told him there was a treatment for Cystinosis on the web page.

Shannon Paju told us she is an Actress working on sets and in the movies with Mary Kate and Ashley Olson. She loves acting and theatre, blue sunglasses and traveling.
Representatives from the New Jersey Chapter, Cystinosis Foundation
The New Jersey Cystinosis Chapter continues to keep research going in spite of tremendous losses, (two of the board members passed away this year). They sponsored their 17th dinner dance fund raiser. They `donated $5000 to the Cystinosis Foundation presenting the check to Jean Hotz, President of the Cystinosis Foundation. This group has been a rock of support for this group all these years. Thanks!!!Frankie McGinnis

Frankie McGuinness presented Jackie Baker, former high school fundraiser who lead her classmates to raise $46,000 for Dr. Thoene's knock out mouse research. Frankie helped put together a public service announcement video on Cystinosis that was shown. It was a little hard for many of us to watch. Frankie's battle cry is, "we want better treatment and a cure!".

Stephanie Gillenberg gave an account of fundraising and encouraged us all to out and do more. Jack and Gail Potts, parents of deceased daughter Lynn Potts, have a scholarship fund in Lynn's name. They announced $1000 awarded to Ann Clare Passat as this year's recipient. Jean Hotz read an emotional tribute to Dr. Gahl from Lynn written by her before she passed away.

Carl & Teri SchleuderCarl and Terri Schleuder gave the Cystinosis Foundation Speaker's Bureau "canned" speech, Cystinosis, Robber of Dreams. The first part was about the brutal reality of discovering the disease in your child. The second part covered the facts and figures of Cystinosis. The next part talked about our son Steven and the personal side of how we were affected. The last parts were about what has been done, who did it and who is helping do the next things that are needed. Speakers Bureau packets are available from us containing tips for speaking, a speech and tips for how to get speaking engagements.

Bruce Mund gave a fascinating timeline history of the progression of Cystinosis complete with handout and slide show of past conferences with participants. Which reminds me that much of the information discussed in the conference was available in handouts.

One of the high points of the conference was when the Cystinosis children brought up a poster with their own special signatures for Ken Mehrling and Justina Lambert from Sigma Tau thanking them for sponsoring the conference and helping several of the folks with travel expenses. They were obviously moved and touched by the care from the kids Award being presented to the Representatives of Sigma Tau and the standing ovation the conference goers gave them. Awards were put together by Anne Hotz. She passed them out with help from her son Josh Hotz. Each family got an award as well as each Cystinosis person got a Cystinosis Research Superstar award. We had wonderful Mexican Buffet Lunch for the day. Geoff Bowers spent the whole conference running errands and video taping the whole conference. Thank you so much Geoff! Thanks to the volunteers watching the children and manning the sign ups and paper work. Thanks to those that got supplies for the kids. Thanks to Carol Hughes for the Map of the USA and Canada showing where many of the conference attendees are from. Thanks to Jean Hotz, Karen and Frank Ritchie for putting so much time and effort into helping organize this conference. For more information about the conference, contact the Cystinosis Foundation for tapes of the conference and watch the whole thing yourself.


THANK YOU TO ALL OF OUR VOLUNTEERS,
OUR MOST GENEROUS SUPPORTERS, AND THE SPEAKERS

     The 17th Annual Cystinosis Foundation Conference was a united effort by the Cystinosis Foundation to bring the Cystinosis Community together. Sigma-Tau, provided the funding which made the Conference possible. Many volunteers donated much of their time and talents, for their love of families and individuals with cystinosis.
     Our sincere gratitude to Frank & Karen Ritchie, Carl & Terry Schleuder, Pam Woodword, Bonnie Paju, Geoff & Sue Bowers, Anne Hotz, Bruce & Merle Mund, and Jean Hobbs Hotz. We would also like to recognize and Thank Mylan Pharmaceuticals and CVS ProCare for their generous donations. We are grateful for the presence of Justina Lambert, Corporate Affairs Director, and Ken Mehrling, Cheif Operating Officer, from Sigma-Tau Pharmaceuticals.

CONFERENCE SPEAKERS

We are extremely grateful to the following doctors, researchers, and speakers for their continued compassion, dedication, and work which have provided better treatments, understanding, and comfort to cystinosis patients and their families.

Corinne Antignac, MD, Ph.D.
Hospital Necker Enfants, Malades,
Paris, France

Jackie Baker
Eastside High School
Taylor, South Carolina   USA

Angela Ballantyne, Ph.D.
University of California, San Diego
School of Medicine
San Diego, California USA

Donald Cairns
Institute of Pharmacy and Chemistry
University of Sunderland
Sunderland, Co. Durham,   England 

Monte DelMonte
Kellog Eye Institute
University of Michigan
Ann Arbor,  Michigan  USA

Gaetano DiBenedetto
Cystinosis Foundation, New Jersey Chapter
Bloomfield, New Jersey  USA

Diane Dorman
NORD

William Gahl, MD
National Institutes of Health
Bethesda, Maryland, USA

Stephanie Gillenberg
Parent to Kurt
Canyon Country, California  USA

Don Hammond
Counselor
San Diego, California USA

Jean Hotz
President, Cystinosis Foundation
Fresno, California  USA

Joshua Hotz
student
Auburn, California USA

Heather Kirby
Manager of Special Products
Mylan Pharmaceuticals,Inc.
Morgantown, W.VA.  USA

Justina Lambert
Corporate Affairs Director
Sigma-Tau Pharaceuticals, Inc
Gaithersburg, MD. USA

Craig Langman
NW University
Chicago, USA

Frankie McGinnis
Parent to Laura
Greer, South Carolina  USA

Ken Mehrling
Chief Operating Officer
Sigma-Tau Pharaceuticals, Inc
Gaithersburg, MD. USA

Bruce Mund
VP, Cystinosis Foundation
San Jose, California  USA

Jack & Gail Potts
Lynn Potts Scholarship
Pennsylvania,  USA

Karen Ritchie
Placer County Office of Education
Child Care Services
Rocklin, Califonia USA

Al-Sabban
Saudi Arabia

Frank Santopeitro
Boston Children's Hospital
Boston, Mass.  USA

Minnie Sarwal, MD, Ph.D.
Stanford University Medical Center
Stanford, California  USA

Carl & Teri Schleuder
Parents to Steve
Novi, Michigan  USA

Jerry Schneider, MD
Dean of Academic Affairs
University of California, San Diego
School of Medicine
San Diego, California  USA

Soraya Soto
ProCare Pharmacy

Jonathan Terry, Founder
Cystinosis Foundation, UK & Eire
Reading, England

Jess Thoene, MD
Tulane University, Medical Center
New Orleans,  LA  USA

Doris Trauner, MD
University of California, San Diego
School of Medicine
San Diego, California  USA

Janet Whitley, Ph.D
FDA
Washington, DC  USA

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