Sponsored
by
The Cystinosis Foundation, Inc.
The Cystinosis Inquirer/Star
Space Aliens Land! (no wait - they were just Cystinosis Attendees!)
In Ann Arbor, Michigan at the Holiday Inn and Microtel on Plymouth road near M23 over the weekend of August 20 through 22, the Cystinosis Conference Folks from Mexico, Nebraska, Florida, Utah, Iowa, Minnesota, Michigan, Indiana, California, Ontario Canada, Illinois and Texas faced the awesome partying power of the "NASCAR People" in the hotel bar and local restaurants. (It's rumored that NASCAR won because they had cooler clothes and didn't refuse to pay the cover charge at the door.)
The
Conference Lead off batter was a major league hitter Dr.
Craig Langman
on Saturday morning, August 21, 2004.
http://www.bioscience.org/editmemb/langman.htm
, Dr.
Langman is a pediatric nephrologist from Northwestern University,
Children's Memorial University specializing in the fast ball world of
genetic biological disorders research. His slide(r) presentation
covered how effective cysteamine/cystagon treatment into the stomach and
eyes is at removing cystine from the lysosome portion of cells.
Chronic Kidney Disease, (CKD), growth failure, Fanconi Syndrome, (wee
weeing and drinking like a drunken sailor), Hypothalamus going crazy,
Dialysis both Hemo and Paretenial were covered in striking diagrams.
Guess what? Growth Hormone before puberty works! Age 2 and up
is O.K. Who would've thunk it? Our lead off batter fielded the
areas of Carnitine helping muscle and bones and fighting off diabetes.
Also Vitamin D required for bone growth and immunity was running the bases.
Dr.
Langman mentioned that bone loss is much greater in the transplant
population than the normal population. So, Cystinosis just increases
the bone loss and requires treatment. This explains why the kids and
adults get broken bones so easily.
Next
up from our Olympic Quality Star Performers was Dr.
Doris Trauner
swimming in the 100 meter Butterfly of Neurological affects of Cystinosis
on the patients.
http://www.teriinc.org/research_advisory.html She
splashed us with talk of abnormalities caused by Cystinosis: Low
Suck, Difficulty swallowing and chewing, low muscle tone, delayed fine and
gross motor control, attention, cognitive and social difficulties.
The latter involve math, geography and spelling. Seizures have been
identified but are mostly found in the U.K. population. If untreated
with cysteamine, weak swallowing and muscle loss gain ground over
time. It appears that Carnitine and some other ingredients put
together in a Mitochondrial Cocktail may help mitochondrial
dysfunction. (mitochondria are called the power house of the cell
because of being involved in energy creation in the cell.)
Tests
and research are being conducted to improve muscle tone and volume as well
as mitochondria function. If you are interested in joining the study,
contact: Dr. Amy Schatz at 858-822-6800, aschatz@crl.ucsd.edu
or Dr. Doris Trauner at 858-822-6700. Dtrauner@ucsd.edu
Our Dream Cruise representative, (on this beautiful Dream Cruise weekend), driving home the speed bumps of Dialysis and Kidney Transplantation, was Dr. Susan "Eye of the Tiger" Thomas. (Rocky should fight so good for others!) Did you know that Cystinosis accounts for 2.1% of kidney failure in children? Me neither. Improved treatments have helped increase survival rates of kidneys out 1 to 5 years. Teenagers have the highest chance of transplanted kidney failure due to lack of taking their meds as required. In the past few years, post transplant infections of immune suppressed patients have caused more hospitalizations than kidney rejection episodes. The most common cancer related to kidney transplants in children is non-Hodgkins Lymphoma. Stanford medical center has been using a steroid free protocol successfully after one year. She told us a great deal of the history of dialysis and transplantation through the years. The improvements have been immense.
The very popular question/answer session with doctors called the "Dr. Panel" consisted of Dr.'s Susan Thomas and Dr. Craig Langman punching out wise words of knowledge in response to the audience's carefully phrased inquiries . Like,"Does a measure of Blood Carnitine equate to muscle Carnitine?" Brilliant response,"Yep!" Do Ace inhibitors hold off kidney damage? Ace and Arb inhibitors reduce protein excretion. There is no data that shows this holds off kidney damage. These inhibitors can be dangerous when dehydration occurs. Dehydration can cause acute kidney failure.
How about transition to adult nephrologists from pediatric ones? A handout and sharing have proved to help the transition in several cases. Transplant kidneys may accumulate some crystals but hasn't shown to be harmful. Carrier Transplant Kidneys have potentially more crystals than non-carrier kidneys.
Dr. Jill Weisberg-Benchell, Psychologist, gave the maniacally - depressed, I mean audience, a collection of insights into making a happy place to live in? She said that, "Coping is a lifetime process for all of us" and we meed to "Create an emotional supportive environment". We should "Use a Team approach" and "Encourage success in School, Friends and Extracurilcars".
Dr. Weisberg-Benchell told us that Pre-schoolers engage in Magical Thinking. They believe they caused their illness. They can't understand the details of the illness or cause. The children feel Angry and Sad. She Suggests: Around the dinner table, discuss positive and negative emotions. Share the day. Never allow the illness to be used as an excuse.
More wisdom shared is that for School aged kids, "Encourage peer support". Know that the kids focus on the unfairness of having Cystinosis and use it as an excuse. They fear others reactions to them having Cystinosis.
As for Teens, they tend to judge Fairness and firmly believe, "It is not Fair!!!". We must
Encourage them to be able to do independent self care. Remember though, that "Active participation does not mean independence". "Would you allow them to track your checkbook if they know addition and subtraction?". "Many are too young to do pills by themselves".
For Coping, be "Open and Honest and use Direct Communication". "Carefully plan the transition of responsibility" and last but not least, "Encourage family involvement!".
Holly
Reuter
Le Feme' Fatale of Espaniol Teaching showed slides and discussed the Spain
Cystinosis Conference. Dr.
Angel Vila Lopez
of Spain and Dr.
William Vant Hoff
of England were co - hosts of the conference. Claudia
Sproedt
from Germany, Jonathon
Terry,
founder of Cystinosis Foundation U.K. and
Dr. William Gahl
from the NIH were shown. Eleven countries were represented there.
Dr. Gahl's presentation was said to have very great value and appreciation
there. A personal plug from Holly for the annual Balloon Ride fund
raiser in Mankato Minnesota February 12th & 13th is an open
invitation to all to come and attend. Cystinosis folks ride free!
Sunday,
August 22, 2004 - Day two
Pharmacare, formerly CVS Procare, (name changed in April, 2004). Jennifer McDonough presented information to us. Pharmacare is our only source for Cystagon. It is the designated pharmacy, selected by Mylan to distribute in the U.S. Orphan Europe distributes in Europe. There are about 400 patients currently receiving Cystagon in the U.S. Pharmacare does specialty services only. When a problem occurs with HMO's, go to Pharmacare first for help.
Inquiring minds wanted to know, "Why did the cost of Cystagon double about the time CVS became Pharmacare?". The answer was that Mylan is responsible for the price increase. Mylan takes care of No-Cost provisions for people in need. The program is income based.
Pharmacare
INFORMATION
1-800-238-7828
Toll Free Call
hours:
8am - 8pm Eastern Std. Time Monday - Friday
Express
Delivery available with either Fedex or UPS
"Chronic
Renal Failure and Cystinosis", the slide show, was demonstrated with
hand visuals a strong voice, (no microphone) in the dark to great accolades
from a giant audience,(49 rapt attendees). The presentation was given
by no other than the great kidney Doctor, Dr.
Patrick D. Brophy
from University of Michigan Medical Center, Ann Arbor, Michigan.
He explained in great detail chronic renal failure specific to Cystinosis
in a way that was understandable to non-medical people.
http://www2.med.umich.edu/cfusion/healthcenters/mott/clinic_detail.cfm?Service_ID=378&name=Nephrology
Renal
means Kidney. Glomular Filtration Rate is referred to as GFR.
Diabetes can hurt the kidneys. Let's discuss Filters and Tubes.
Take a tube into a filter and out the other side. The filter gets
clogged up with Cystine Crystals so it won't filter properly. The
tubes, (tubules) regulate the acid/base balance called ph level, the
vitamin, mineral, water and chemical, (phosphorus, calcium, potassium to
name a few) balance that the body requires to function and grow.
What
affect do Ace Inhibitors have on kidney function? Ace inhibitors
reduce filtration in the kidney causing reduced kidney function. The
Tubules also regulate hormone creation, so if they are crammed with cystine
crystals, they either don't do it, or may do it wrong. Normal ph is
7.4. Acidodic ph is 7.1 or 7.2 (When kids get dehydrated with
Cystinosis, they often get acidodic and need to get balanced again.)
Kidney patients require Diet and Drug Therapy to be affective.
Sweat production is defective. Color is sallow or yellowish pale.
Immune function is not adequate. BUN >80 - 100 mg/dl and
Creatinine >10 mg/dl requires Dialysis. Dr. Brophy introduced U.
of M. Dietician Joan Daniels, (formerly Joan Milne, in publications) as a
Goddess. (This reporter assumes he meant that she is real good at her
job, is worshipped by him and can perform miracles.)
Dietician
Joan Daniels showed
us in a slide show that Fanconi Syndrome has accompanying characteristics
like gagging and vomiting and dehydration, each of which cause poor
appetite. After Kidney Transplant, one should cut out concentrated
sweets, cut down on salts, limit saturated fats, watch for high phosphorus,
get enough calcium, exercise regularly, consider lipid lowering medication
and have a Dr. review your choice of herbal supplements before you use
them.
[Most of this account of the Midwest Region get together is meant to have humor and silliness inserted to prevent the readers from falling asleep at the PC. This portion is not funny and moved this writer to tears. ]
Dr.
Letitia Belmont
from Mexico City, Mexico, reported that the Cystinosis Foundation Mexico
was founded in 2002. It is the first Latin American support group for
Cystinosis. It has the first Spanish website up and running.
There were 21 patients in Mexico. 10 are alive, 11 dead now. 13
males, 8 females. We were shown slides of some of the patients.
Ones treated with cystagon and other required nutrition, supplements and
care looked good. Ones not treated at all brought gasps from the
audience. An entire family of 4 had the disease, were not treated
because they could not afford it and all died. Shock as this sinks
in. Then tears.
There
are 46 patients in Latin America of which 27 are from Brazil. With
the 21 from Mexico that is 67 total for that part of the world, (that we
know of).
The
website for Cystinosis Foundation Mexico is: www.cystinosismexico.org
The panel consisted of:
David Clark, PC repair and Market Research Consultant from London, Ontario, Canada (has had 2 kidney transplants) Age 22. On Cysteamine for 8 years. Was diagnosed at 18 months old. Has done better in English and Drama in School. Math and Science were a problem. David claims he might be lazy and have a bit of an attention problem. Transition from Pediatric care to Adult care was O.K., Very Good, but a little rough.
Keith Croce from Iowa. (has had 3 kidney transplants) First went to NIH in 1986. Age 38. Graduate of U. of Iowa in Iowa City with 2 Associate degrees. Was diagnosed at 13 months old.
William
Croce
from Iowa. Age 34. Has been on Cysteamine since 1986 like
Keith. Has had no Growth Hormone. Transition from Pediatric
care to Adult care in Dubuque, Iowa was O.K.
Victor
Gomez
works training doctors about Cystinosis, Database and Phone work full time.
(1 kidney transplant 12 years ago.) Lives in Mexico City, Mexico.
Started the Cystinosis Foundation Mexico. Victor was diagnosed at 9
months old. Transition from Pediatric care to Adult care has not
happened yet after a year of waiting!
Mack Maxwell is 40 years old. He works as a PC Programmer on Cobalt, Mainframe and Oracle at a University. Mack has published a workout for Cystinosis patients to help sustain muscle mass and reduce loss of strength and muscle wasting. (1 Kidney transplant 29 years ago) Mack lives in Texas. Mack started Cysteamine at 8 years old. He is good in Math. Got his BS degree in Information Systems and has taken some Grad. School courses. Transition from Pediatric care to Adult care was a non event since he has had the same doctor at Ft. Worth, Texas for the past 25 years. Before that doctor was found it was rough, though, being tossed around.
The first question from the audience was, "What's a Bad Day like vs. a Good Day?".
Keith responded that a Bad day was, "when the cysteamine was like on fire inside. A candy bar helps. So does Tomato juice and chocolate. I drink a lot of tomato juice."
Mack agreed with Keith saying that cysteamine in the stomach unsettles it and he doesn't vomit, but does get action out the other way. Nexium helps.
David agreed also that the cysteamine gave him stomach trouble. He eats chicken wings to help settle it. David like Mack has trouble with the "other" end, not vomiting. He uses Imodium for that.
Victor said that for him, a Bad Day was not taking his meds.
William said on Bad Days, he needed food in his tummy. He eats ham sandwiches to help.
Keith finished off the talk discussing Title A and Medicare coverage for his kidney transplant. The recommendation from the Cystinosis Grown-Up Panel ( if I got it right), seemed to be use your Dad's insurance, (if it's good) for as long as possible, then get a job at a college or the government with good insurance.
Jean Hotz, Founder of the Cystinosis Foundation, had an upbeat comment before break. X years ago, there was no support group for Cystinosis. Today there are four in the U.S., one in Mexico, one in Ireland and one in the U.K.! [Thank You Jean for getting it all started! - Reporter Comment]
Next
was the Luncheon. Umm Good!
Followed by an announcement by the Eggers and Julia Baxter about a Special Needs Dance, Special Olympics competition where Julia competes in Bowling and Horseback riding.
Then
each family came up front to receive a certificate and have their picture
taken, (by an entire mob of paparazzi).
After
the family pictures most of the people cleared out for the long trips home.
Those of us that stayed were treated to an excellent dissertation on
Special Education Needs given by Joan Hohl.
Joan Hohl discussed IDEA, the Individual with Disabilities Act first. This became Public Law 99-457 in 1986. Next she covered Iowa's Early Access Services. In 1999 this work was signed into Federal Law under President Bill Clinton. Joan covered IEP, Teachers, Nurses, Health Care Plans, Head Start Classrooms and "Least Restrictive Environment".
Holly Reuter opened up the floor to discussion about a Summer get-together. Possibly in a Holiday Inn ($120/night) with an indoor water park located near Minneapolis St. Paul Minnesota. The main component being to have family close by where ever it is to help with child care so the adults can rest and kick back. (The floor didn't help much - tired of sitting and decimated in numbers.)
Camelot
Room - Child Care room and Pizza Friday Night Get -Together, blocks, soccer
ball, VHS movies - 1970's - 2003, Hoola Hoops, Games, Coloring Books,
Traced Hands, Tic Tac Toe, Darling Children!
Quizno's
at lunch break - guy looking at our name tags whispering to his wife in
line, "what is Cystinosis?", So many people, so few tables and
places to eat!
Busches
Grocery store! Food, snacks, B2 vitamins
Bennigans
- Dinner - Long wait, Lost Cystinosis Young Adults and Adolescents, Nascar
Party Goers, Large family celebrating Birthday that would not leave… our
table! Fear that Carol Hughes, alias "Louise" might go
postal on them or worse…… stand next to their table and stare at them!
Krispy
Crème Donut Breakfast, MMMM sugar rush, coma.
Joan Hohl with support from husband Lonnie, Holly Reuter with support from hubby Dan and the behind the scenes executive, Jean Hobbs-Hotz.
