Sponsored
by 
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.
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....)
The 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.
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.
"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 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
After Eyedrop Treatment
Dr. William Gahl from the
National Institutes of Health gave an eye opening ,( ha ha ) slide show and
review of
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.
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.
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 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 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 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. 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 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 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.
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 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.
Medical
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, 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 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!
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.
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 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 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
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