The Cystinosis Inquirer/Star
Click Here to See a Slideshow of Families that Attended
Two of God's great groups battled...err met... err .. all right, they passed in the halls at the Hyatt Regency Hotel in a Chicago suburb, Oakbrook Wednesday evening, July 24, 2002. The Southern Baptists and the Cystinosis Conference folks wandered the halls looking for their respective conference halls. The one with Pizza and Pop was the object of many hungry Cystinosis attendees.
Many folks were tired after traveling for many hours, missing a few turns and getting familiar with unknown territories. Holly and Dan Reuter handled registration and gave out information packets and goodie bags. Pizza and pop were devoured ravenously by people from all over North America. The first timers began to meet with the veterans and realize how much their children look alike. The veterans of past conferences greeted each other like separated families meeting after a year apart. ( hugs and kisses, not fisticuffs!)
The whole affair began when the Loving Founder of the Cystinosis Foundation, Jean Hotz, hopped up to the podium to offer hearty Greetings and Salutations into an anemic microphone to the sleepy awakening crowd. Karen Ritchie looking like the California girl she is, followed Jean by showing a picture of Erin Bowers, Jessica Britt, Josh Hotz, Krista Mund, and Frankie Ritchie in 1983 (when the Foundation started officially). This was a tribute to Erin (Bowers) Preciado who died June 18. 2002 of heart complications from dialysis while waiting on a new kidney. Next, 37 families braved the paparazzi’s frenzy to capture souls in magnetic and film media. After each family played with the microphone, often futilely attempting to say their names, yours truly attempted to co-ordinate the family stories sharing time which my exceptionally beautiful wife started by demonstrating the “short” story. Many families got to share, but several did not due to time constraints. (I have been prohibited to share all the juicy stuff of these stories. You’ll just have to come next year to get all the dirt in person!)
After lunch, the conference resumed with Victor Gomez from Mexico giving us an idea of what the Foundation he started is facing. Seven members, Spanish brochures, School visit talks, the need to get Cystagon to patients, funding sources and the need to treat patients in Mexico were covered by Victor‘s excellent English. (I learned my Mexican from a cartoon mouse! Undelay! Areeba! Seee Seenyourrr!)
ProCare’s
Bill La Piana, Medical Tech, A.S.C.P. told a
riveted audience, (“yeah right“, said Bill...” in the dark
watching slides after lunch?”) that CVS has undergone many changes that
explain why service has been less than glorious this past year: (and he begged
us not to hurt him.....)
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Columbus was closed due to cutbacks Staff from a 6 story building was moved into a 2 story building along with remaining Columbus folks - cram city! More Cutbacks and layoffs No “New” Staff Many new trainees New Insurance issues New Injectables - more difficult than orals to handle 3 different computer systems combined into one. Chances for files to be lost or messed up. |
Bill told us that he and his wife lost two children age 6 to group “e” strep. So he definitely could identify with losses and adjusting our lives to a new standard of “normal“. He stayed throughout much of the conference and began to get to know many of us personally.
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Procare is the nation’s leading integrated specialty Rx. Member of CVS since 1997. Consolidated with PharmaCare in 2001 Specializing in treatments: Growth Hormone, Multiple Sclerosis, RSV, Hepatitis C, RA, Oncology, HIV, Transplants #1 provider of HIV Rx services #1 provider of Transplant Rx services #2 Fastest Growing specialty provider of HCV Rx services in the U.S. Focus is on adherence featuring follow-up aids such as Transplant starter kit, B/P cuff, Temperature, Planner and Calendar/ Stickers of pills go on Time and Date Clinical Programs Use http://www.cvsprocare.com for further information and contact. |
Dr. Ranjan Dohil revealed his finding from the Prilosec study. In summary:
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Cysteamine, the primary drug used to treat Cystinosis, is ulcer causing. It causes increased gastric acid and gastrin. Usually the patients have reduced bicarbonate, making the situation worse. Cystine Crystals were found in gastrol areas of cysteamine compliant patients. Acid levels go up over time due to cysteamine therapy. Cystagon is not effective in the gastrol areas. Indications are that higher doses of Cystagon and the use of Prilosec or Nexium may be more effective for the gastric area. The acid is produced 60 to 90 minutes after taking Cystagon, so taking Prilosec imediately before meals with Cystagon is preferred. |
Dr. Doris Trauner gave the expectant audience a triple treat, revealing results of three studies. First the Brain regarding Visual and Verbal learning:
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Multi-Modality approach should help. Verbal learning was equal to the control group Visual learning was lower than the control group Increased time helps some, but not for spatial relationships and copy errors. |
Second, I regret that my brain was overloaded at this point and I faded into a zombie state similar to information overload when touring museums for days on end in Washington DC. A vague recollection tells me:
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The brain is smaller than the control group The map reading without re-orientation of the map for direction changes is lower than the control group The spatial recognition when re-oriented is lower than the control group. |
Third, the discussion of Oral function and dysfunction were wonderfully explained by Dr. Trauner. If I understood correctly, the muscles get pooped and waste away causing vocal chords to be affected, swallowing to be less effective removing fluids and less volume to be achieved when talking. The flap over the windpipe controlling air flow for breathing and swallowing to the stomach doesn’t work properly.
The second day began with a wonderful breakfast just like the first day’s sweet breads, cakes, juices, fresh fruits, teas and coffees. After awakening and going in somewhat groggy eyed, the now 57 family and friend groups plus 9 doctors and one health care company representative filled the chairs in the meeting room to begin working the old brain cells.
Dr. Jess Thoene, known for sharing data in his own wonderful style, gave his presentation on Apoptosis which was a break through in further understanding the mechanism of Cystinosis. (Apoptosis is the plan for the death of a cell.... the instructions for how and when the process of a cell dying and leaving occurrs, if I understood the definition correctly). The mouse model now has most of the characteristics we recognize, (except the fanconi syndrome kidney related ones). The third major find presented to us was the real possibility that other genes are implicated for effects of the Occular and Late Onset varieties of Cystinosis. The picture of the fish catch and the new automated cell counter, a $10,000 pc. of equipment, purchased by Dr. Thoene through the Cystinosis Foundation research funds and presented to Dr. Thoene by Chef Paul Prudhomme, plus the results show that Dr. Thoene and his research team are definitely not in Apoptosis mode!
Frank Ritchie introduced Dr. Bill Gahl. Dr. Gahl represents the research team at NIH, (National Institute of Health). He gave a talk with a slide show covering the basics of Cystinosis. Sort of a “Where’s Waldo “show with cystine crystals instead of Waldo. Pictures of Lysosomes, bone wasting, muscle wasting, crystals in eyes, muscle cells, kidney cells and others were highlights. He showed graphs demonstating how the cystagon (cysteamine) affects crystal build up in the cells in various tissue types and in folks of different ages and types of Cystinosis. This talk was an in depth discussion of the paper recently published in the New England Journal of Medicine, (on the Cystinosis Foundation website home page). Growth, kidney death, eyes and muscles were the main topics covered. The main understanding from this talk is that Cystagon can improve quality of life by improving body function. Carnitine in some patients improves muscle growth and strength. Eye drops with cysteamine remove crystals on the areas treated reducing pain and light sensitivity..
Dr. Bill Gahl began the Muscle wasting talk by showing a slide with crystals in the muscle cells. Weakness and loss of muscle in the hands was shown. Diligence was a slide that showed that while crystals in the eyes can be removed and damage seems to be reversible, damage in the muscles is not. Lapses as a teenager show loss with no make up.
Dr. Craig Langman was next up with his slide show on short stature and growth in Cystinosis. He gave the causes of poor growth as:
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Chronic Metabolic Acidosis Malnutrition Renal Osteodystrophy Anemia Chronic Urinary Infection Sodium Wasting Active Inflamanatory Disease |
Dr. Langman showed a slide that said most catch-up growth occurs for kidney transplants in age 0 to 2 years old. Carnitine was his next subject. It is required for energy metabolism, it transports fatty acids into the mitochondria to produce energy and it removes toxic waste out of the cell. In Dr. Langmans’s opinion, all patients with Cystinosis pre-transplant, should have L-Carnitine Therapy during dialysis.
Dr. Jerry Schneider gave the talk
about the history of Cystinosis and subsequent events since the discovery. Some
highlights were:
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Renaming the types .... Adult became Benign became Ocular Hypothyroidism in adults Tremendous Placebo affect confused treatment: Attempted Specific Therapies - Failed - Most had tremendous Placebo Affect!
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Below is an excerpt of Dr. Schneider’s talk.... just to show you what kind of info you missed if you didn’t attend these sessions.
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In 1965 we knew:
Several coincidences(?) and improvements in technology occurred to permit developing knowledge. Jake Siegmueller's Gout work lead to the study of Cystinosis crystals in joints. Sign and Moore invented a way to measure amino acids. This was followed by Beckman inventing an analyzer for amino acids. This accompanied by a ten fold improvement in the analyzer before Dr. Schneider got the equipment, enabled him to find and measure the amount of Cystine in white blood cells. Comparison of 1965 and 2002
(Dr. Joe Schullmanfound this out.) There are different types of Cystinosis
Symptomatic Treatment
Dr. Jess Thoene developed Cysteamine Therapy in 1978. 9 years later, 1987, it was proven to be effective. 7 years later, 1994, the FDA approved Cystagon as the form of Cysteamine we now use. In 1983 the Cystinosis Foundation began. The Importance of Parent Support Groups
See! Cool stuff to know, huh? I just give little snippets for the rest, because of the length of it all. |
Your Ace Reporter, me, was dragged kicking and screaming to the podium to moderate this confrontational event, (O.K. I had to get down on hands and knees and beg the Ritchies for this shot at fame.) Doctors Gahl, Schneider, Thoene, Thomas, Langman, Trauner and Antignac were lined up in a row of chairs, (like nervous kids on that show, ”kids say the darnedest things“). The audience was very forthright with questions, (reminiscent of Jerry Springer TV..... O.K. they just asked good questions!). The highlight was when Mary (rest of the name left out to protect the innocent?), told the Dr.s she, “didn’t know who the father of her son was”. [Definitely got their attention.... everybody’s in fact.] Then she said, “and I don’t know who the mother is either”. [Dr.’s mouths actually hang open with blank stares for a moment.] Then Mary realizes what she said and in great embarrassment says,” adopted... he’s adopted”. Laughter and relief spread through the audience like the “wave” at a ball game. I don’t have any of the questions or answers here, so content yourselves that this was very entertaining and informative.
Dr. Corinne Antignac gave her talk on “Animal Models”. Awesome Slides! (CTNS, ATG, TAG, inter-membrane, etc.) Her presentation started with the French Collaborative Study. Out of 102 patients with “Infantile” type Cystinosis, 97.5% contained the “European Deletion” (two severe mutations), in the RNA of the gene. In the 6 patients that have another form of Cystinosis from the study, the two severe mutations were not found. One severe and one mild mutation were found.
The mouse gene is very similar to the human Cystinosis gene. Initially no crystals were found. With age, the accumulation of Cystine increased., but always in a lesser amount than the human gene.
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No Fanconi Syndrome renal failure - life span of the mouse may be too short to get Fanconi's to show up. Decreased mobility at 6-8 months of age Behavioral Anomalies - Open field testing - Muscle weakness or wasting Eye anomalies - vision affected Ocular lesions Muscular lesions - increased CPK Osteoporosis |
Cystine Clearance by Cysteamine works in the Mouse.
"This is an invaluable model to test emerging therapies". - Dr. Antignac
As the head of transplants at U.
of Michigan, Ann Arbor and as a grown up with Cystinosis, we all listened
intently to Dr. Thomas tell us the facts from some papers and studies. My take
on what she said was this:
The living donor vs. cadaver donor rejection
percentages are almost equal now. The lives of the transplanted kidneys are in
double digit years for both kinds of donor for 50% of the data population
reviewed Cystinosis affects many organs. As the drugs and follow-up get better,
the kidney rejection rates are going down.
Problems that occur in
Pediatric Transplants are: Chronic rejection, Other causes of allograft
loss, Vascular thrombosis, Recurrent disease, Growth Failure and Effects of
race on outcomes. Cystinosis Kidney Transplants have the best outcomes - lowest
risk for graft loss!
Cardiovascular disease - caused by hypertension, (High Blood Pressure), is very common in Dialysis during end stage renal disease. This is the main cause of death for those 18 and over. The second leading cause of death is Infection
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For Adults, Blood Pressure should be less than 140 systolic and less than 90 diastolic. Cholesterol: Low Risk <200 LDL<130 High Risk >240 LDL>160 Low HDL <35 High Fasting - Tryglycerides >200 There is a high risk of skin cancer post transplant. There is a high risk of cervical cancer in women post transplant. Coronary artery calcification is to be watched. Dystal Myopathy too. (Whatever that is!) |
Adults with Cystinosis, an Adult Cystinosis Panel with
host Tom Melang, Jr finished the day. The panel
consisted of Tom Melang, Jr., Mac Maxwell, Paula Shal,
Whitney Glaize, Josh Hotz and Laura Krummenacker. Tom started with
mentioning medicine tolerance issues with Cystagon and other drugs and
compliance issues. How are we coping with the medicines and how are our bodies
doing?
Josh Hotz took the microphone next.
Erin Preciado’s death has made a severe
impact on his life. Josh and Erin had not been compliant and were rebellious.
They felt rather immortal. Kind of safe with all the new technology available.
He’s taking his medicine now.
Paula
Shal said that having a Dr.’s encouragement rather than a
parent’s to take the med’s was a help to her. Also having friends
that would tell her if her breath was O.K. or not was helpful.
Mac Maxwell takes his CystagonTM with cranberry juice.
Sometimes it makes him sick, but it’s worth it to minimize the damage. Mac
may look into getting Prilosec to settle and protect his tummy troubles. He let
us know that Tequila is O.K. at age 25, but is really tough when you’re
38! He got an Amen! from the audience. He is very thankful for the eye drops
and uses them nearly hourly.
Whitney Glaize
said that compliance has been the hardest issue . She has not required a
transplant yet. Procrit was nearly painless to inject vs. EPO. The EPO was too
painful for her to take.
Laura Krummenacker
got off easy without too much questioning.
Karen Ritchie started the morning's activites with a talk entitled, "Unlocking the Power of Positive Self-Esteem". Her Power Point presentation was powerful, (pardon the alliteration). She covered Loss processes, Connecting with others equals Good Mental Health, Grateful after riding the ups and downs of Life, Stress management and Letting Go of Demons. The stress management part said, "to reduce stress for our minds and bodies we need to":
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Have a Loving relationship with others Have Faith in something beyond ourselves Feel valuable, Feel we have something to contribute and Feel we have a reason to live |
People with "good" self esteem do the following, so ask yourself, "Do I":
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Consciously Cultivate loving relationships Reach out and express appreciation, needs and love Share dreams, hopes and fears to people closest to me Cultivate my Spirituality Search for the meaning from a Greater Perspective and try to maintain inner peace Strive to contribute something that makes a difference in the lives of others everyday |
Joan Hohl covered the Educational needs of Individuals with Cystinosis next. She gave an outline of her talk for all to follow. There is a law, for the USA and it's territories, called Individuals with Dissabilities Act or IDEA. Cystinosis patients are covered by this Federal law. Each state/territory interprets the law differently and complies differently. Early Intervention/ Early Access can begin finding and addressing needs such as speech therapy, large motor therapy, small motor therapy and others. A complete listing of state directors of Special Education can be received from NASDE, (National Association of State Directors of Special Education) or contact Joan Hohl. These directors make sure that local school districts provide "Free and appropriate public education, FAPE" and several others ….get Joan's handout for the details. Joan says that, "Parents/Guardians are the child's best advocate and voice in meeting their learning/educational needs!!" Continue to network with other families and professionals who know and understand Cystinosis. Joan handed out the 10 Commandments for Parents of Children with Special Health Care Needs and excellent document in my opinion! Joan Hohl also handed out, "How to Be an Effective Advocate".
The Parents Panel was next with Candy Wagner, Dena Gard, Terri Schleuder, Mary Jordan, John Barron, Anne Hotz and Pam Woodward. Subjects handled by the panel were: Transition to adulthood after High School under-educated, SSI program trouble, Medicaid set-up overpayments, Paid legal advisors , Social Security disability, Grieving for loss comes and goes, Medicaid legislation for pharmacy.
An Award Luncheon was hosted by Anne Hotz in the lobby area of the Hotel. She gave out award certificates to each family and child with Cystinosis for heroism in fighting the disease and contributing to research for treatments and a cure. Each family panned for pictures after receiving the awards.
Dan Reuter pulled his pick-up truck in front of the hotel with his Hot Air Balloon basket set up for the kids to climb in and listen to the roar of the dual flame throwers…. Err.. hot air emitters. We felt a very warm blast each time he fired them and we were 20 feet from the basket! Dan was a little disappointed that he wasn't allowed to give balloon rides or raise the balloon for the demo. What a cool hobby for such a hot thing!
Dr. Ted Groshong presented his Problem Based Learning program with his star patient Amelia Douglas and Amelia's mom, Sylvia Douglas. At the U. of Missouri, Springfield, the first year medical students are presented with case studies and real live patients to interview. Dr. Groshong has been using Amelia's case study with Cystinosis symptoms for several years. The result of this program is that his students score around 10 points higher than the national average on the USLB Test. A recent event that warmed Dr. Groshong's heart was when a patient with Cystinosis, (undiagnosed yet) was being observed by two doctors trying to identify a diagnosis from symptoms. Dr. Groshong saw one of his former students, now a 3rd year, near by. He asked each of the Dr.'s what the patient had, getting no conclusion yet…. Further tests required. He asked the student in front of them what the patient had and promptly got, "he has Cystinosis ". Amelia and Sylvia volunteer their time to play their parts for the students. Well done Dr. Ted, Amelia and Sylvia!
Frank Ritchie showed some video and a Public Service Announcement put together by Holly and Dan Reuter on Cystinosis using Hot Air Balloons for fund raising and awareness. Then Frank showed the PSA video on Cystinosis with Frankie and Laura McGinnis and others. He and I both broke down… that one is so brutal! Bruce Mund saved the day and stepped in to give a slide show on the History of the Cystinosis Foundation. The slides of Dr.'s Thoene, Schneider and Gahl in 1985 were amusing. They look exactly the same today! (Just Kidding). We saw Jerry LaTrechiana at the New Jersey Dinner Dance Fund Raiser. Jerry died last year…. A very great loss to everyone. Frank Richie played a video of his of former Conferences. Again tears flowed from many of us. It was very moving.
Then it was over except for many hugs and wishes for safe journeys and trials ahead.
On a personal note, get a good map when touring Chicago!….oh yeah… I love you people!!!
THANK YOU TO ALL OF
OUR VOLUNTEERS,
OUR MOST GENEROUS SUPPORTERS, AND THE
SPEAKERS
The
18th Annual Cystinosis Foundation Conference was a united effort by the
Cystinosis Foundation to bring the Cystinosis Community together. 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, Dan & Holly Reuter, Carl &
Terry Schleuder, Tom Melang, Jr, Bonnie Paju, 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.
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
William Gahl, MD
National Institutes of Health
Bethesda, Maryland, USA
Dan & Holly Reuter
Parents
MN. USA
Jean Hotz
President, Cystinosis Foundation
Fresno, California USA
Joshua Hotz
student
Auburn, California USA
Craig Langman, M.D.
NW University
Chicago, USA
Bruce Mund
VP, Cystinosis Foundation
San Jose, California USA
Karen Ritchie
Placer County Office of Education
Child Care Services
Rocklin, Califonia USA
Carl & Teri Schleuder
Parents to Steve
Novi, Michigan USA
Tom Melang, Jr
Adult w/Cystinosis
Redmond, Wa USA
Jerry Schneider, MD
Dean of Academic Affairs
University of California, San Diego
School of Medicine
San Diego, California USA
Bill LaPiana
ProCare Pharmacy
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