Vol. 5, Iss.2 - The United Mitochondrial Disease Foundation

Transcription

Mitochondrial News
United Mitochondrial Disease Foundation
UMDF Symposium Slated for San Diego on March 2-4, 2001
S
an Diego, California, will be the next meeting site for
the UMDF family conference. Please mark the dates
on your calendar now! While this meeting follows
less than a year after our very successful symposium in
Cleveland, UMDF is taking advantage of a medical/scientific meeting already in the planning stages. The family conference will run from Friday afternoon, March 2
(registration and a welcoming reception) through Sunday,
March 4 at noon.
The meeting will be held at the Hyatt Islandia, a
beautiful hotel facility on San Diego’s Mission Bay. The
hotel can easily accommodate the medical and family
meeting simultaneously and will provide a vacation-like
atmosphere for participants. Program Directors Mark
Fleming and Sharon Shaw are working to provide a
valuable educational experience, including lectures on
clinical care, coping, nutrition, therapeutics, occupational therapy, physical therapy, exercise, insurance, SSI,
and advocacy.
In addition, families will have ample opportunity to
interact with physicians during two separate panel discussions. Tentative speakers include Boles, DiMauro,
Haas, Munnich, Naviaux, Stein and Turnbull.
The medical/scientific meeting for medical personnel
will take place February 28 through Sunday, March 4.
Robert Naviaux, M.D., Ph.D. is serving as the Program
Chair for the medical conference. Other members of the
organizing committee include Richard Haas, M.D.,
William Nyhan, M.D., Ph.D., Keshav Singh, Ph.D.,
Douglas Wallace, Ph.D. and Steve Zullo, Ph.D. The
Committee has generously agreed to provide speakers for
the family conference.
UMDF received good feedback from the Cleveland
symposium, and suggestions on how to improve the symposium will be implemented to every extent possible. We
are looking forward to another successful conference and
hope to continue to provide families with the most current research and substantive information. Registration
forms and detailed information will be mailed to every
UMDF member in late fall. A registration form will also
be included in the next issue of the newsletter and a copy
will be placed on the web site: www.umdf.org.
Nutrition Therapy for Disorders of Fat Metabolism
By Najeebah S. Shine, MS, RD, LD
M
etabolism is the complex process of the body
burning food to produce energy. The part of the
cell responsible for energy production is the
mitochondria. In disorders of fat metabolism, there is a
problem in the mitochondria with one of the steps necessary to turn fat into energy. This article will provide an
overview of the goals of nutrition therapy for patients
with a fat metabolism disorder. This article is a summary
of a presentation given at the June 2000 International
Conference on Mitochondrial Diseases.
When working with children and adults who have fat
metabolism disorders it is important to remember that the
benefits of diet therapy can vary. Some diet changes could
prove beneficial while others could be dangerous. There is
no standard diet treatment and any adjustments should be
made under the guidance of a physician and registered
dietitian. The goals of the diet therapy should be to promote growth and development for children, to maintain
appropriate weight for height for adults, and to prevent
nutritional imbalances for both.
The initial nutrition consultation should consist of a
comprehensive assessment. A 24 hour food recall and
food frequency can help to determine the adequacy of the
current diet, eating habits, feeding problems/difficulties,
and the use of alternative routes of feeding such as feeding tubes. Weight, height, and head circumference for
children should be measured. Supplement usage, medContinued on page 3
Mitochondrial News
2
Summer 2000 • Volume 5 Issue 2
United Mitochondrial
Disease Foundation
Chairman’s Report
We’re moving again! To a larger office on the second floor (of the same
building) that will more than double our work-space. This new facility will
house 7 workstations, (giving us room to grow) a conference room and necessary storage space for all our member and chapter materials. Our computers
and phones may be down for short periods of time but we hope to be up and
running with minimal interruptions. This move is being funded in large part
by an Economic Development Grant secured through Pennsylvania State
Representative Joseph Markosek. This is the second grant amounting to
$10,000 received by UMDF through Representative Markosek who said when
interviewed, “I believe it is important for us to bring in state programs to help
local humanitarian, nonprofit entities to succeed.”
There is money available in every state through your local legislators. Don’t
be bashful, call them up and introduce them to UMDF. I guarantee you that
Rep. Markosek can now pronounce the word “mitochondrial” as well as
explain its function.
With your continued help and support we continue to carefully grow the
United Mitochondrial Disease Foundation. Your Foundation is being properly
positioned to meet the continued challenges facing nonprofit groups without
losing sight of our mission:
To promote research for cures and treatments of mitochondrial disorders
and to provide support to affected families.
Current initiatives in process which will help in our “quest for the cure:”
• UMDF’s Vice-President, Mark Fleming has again “stepped up to the
plate” to chair a governmental affairs committee that will begin to look at
finding better funding approaches to mitochondrial research.
• Expansion of staff, office and equipment to better service our growing
membership.
• Budgets in the process of review for “Symposium 2001.”
• Sight locations and particulars being discussed for “Symposium 2002
and 2003.”
• Strategic planning session and board meeting scheduled for all UMDF
Trustees in September 2000.
• A meeting bringing together all UMDF Chapter Presidents organized for
October 2000.
• Reviewing scripts for our first public service announcement video.
• Preparation of “Annual Report 2000.”
• The UMDF logo is now a registered trademark.
• Continued expansion of our research grant program.
• Increasing the value and content of the UMDF Newsletter.
• Production of informative brochures.
Will any of the above initiatives produce the “pill” for the cure? - No! But
each one will have a positive impact, perhaps opening the door and paving the
way for earlier detection and diagnosis, more effective treatments and then
ultimately the “pill” that will cure mitochondrial disorders.
The office, in the meantime, continues to receive over 400 phone calls each
month. Unfortunately, too many of them still begin with, “Hello, my name is
Jane Doe and I just found out my child has a mitochondrial disease, can you
help me.” Your staff acknowledges with the only response they know, “Of
course we can, that’s why we’re here.”
My continued gratitude goes to the true founders of UMDF, our loved ones
who suffered and continue to suffer.
Yours towards a cure,
Chuck Mohan
Chairman
P.O. Box 1151
Monroeville, PA 15146-1151
Phone 412-793-8077
Fax 412-793-6477
email: [email protected]
http://www.umdf.org
Board of Trustees
Chuck Mohan, Chairman
Marsha Barnett
Bruce H. Cohen, M.D.
John DiCecco
Mark Fleming
Jane Clarke McManus
Lee Neff
Nick Rillo
Scientific Advisors
Gerard T. Berry, M.D.
Richard G. Boles, M.D.
Salvatore DiMauro, M.D.
Carol Greene, M.D.
Richard Haas, M.B., B. Chir.
Charles L. Hoppel, M.D.
Richard Kelley, M.D., Ph.D.
Douglas S. Kerr, M.D., Ph.D.
Nicholas Krawiecki, M.D.
Arnold Munnich, M.D., Ph.D.
Robert K. Naviaux, M.D., Ph.D.
William L. Nyhan, M.D., Ph.D.
Brian H. Robinson, Ph.D.
John Shoffner, M.D.
Eric Shoubridge, Ph.D.
D. M. Turnbull, M.D., Ph.D.
Rajiv R. Varma, M.D.
Georgirene Vladutiu, Ph.D.
Douglas C. Wallace, Ph.D.
National Office
Leslie Boyer, Executive Director
Antoinette R. Beasley
Robert Bolewitz
Melinda O’Toole
Kara Strittmatter
The opinions reported in the newsletter are
not necessarily endorsed by the
United Mitochondrial Disease Foundation.
Our intent is to keep you informed,
and we ask that you always discuss any
diagnoses, treatments or medications
with your personal physician.
© United Mitochondrial Disease Foundation
Mitochondrial News
3
Nutrition Therapy for Disorders of Fat Metabolism
Continued from page 1
ication lists, and lab results should also be collected. This
information is then used to determine an appropriate
nutrition care plan.
A registered dietitian should see patients during the
first or second visit of the medical evaluation. In many
circumstances, test results are still pending, but a nutrition
consult at this time can help to alleviate symptoms such
as low blood sugars or weight changes. For example, for
low blood sugars, patients should avoid prolonged periods without food. Small frequent meals, a bedtime snack
of complex carbohydrates such as pasta, bread, or oatmeal, and overnight feedings are crucial to patients who
have difficulty controlling their blood sugars. Uncooked
cornstarch, a good source of complex carbohydrate, can be
successfully utilized with patients using a feeding tube.
Cold water can be slowly mixed with the uncooked cornstarch prior to feeding to keep the cornstarch from
swelling and blocking the tube. In addition, a water flush
can be administered before and after each feeding to prevent a blockage in the tube.
For patients with fat metabolism disorders such as
very-long chain acyl-CoA dehydrogenase deficiency
(VLCAD) or medium-chain acyl-CoA dehydrogenase deficiency (MCAD), diets modified in fat are prescribed.
There are metabolic nutrition protocol manuals available
for dietitians and other health care professionals to use to
plan and monitor diets for patients who require manipulation of their carbohydrate, protein or fat intake. For
example, the manual produced by the Ross Products
Division of Abbott Laboratories features a protein, vitamin, mineral powdered formula with iron called
ProViMin for infants and children with fat metabolism
and other metabolic disorders. In VLCAD, the manual
recommends limiting total fat to no more than forty percent (40%) of total calories. Long-chain fats are restricted
to less than ten percent (10%) of total calories. The
remaining fat energy is made up with medium-chain fats
with a commercial product called MCT oil.
Carnitor, Coenzyme Q10, and B Complex vitamins are
common components of a treatment plan for patients with
fat metabolism disorders to improve energy production.
Tolerance can be an issue and a physician and dietitian
should work closely together to make sure food is not displaced by an excessive consumption of supplements.
Parents should be encouraged to report supplement usage
to identify drug-nutrient interactions and prevent
unwanted side effects.
Follow-up is imperative to the success of diet therapy
for patients with fat metabolism and other mitochondrial
disorders. A dietitian should be a part of the multidisciplinary medical team to help evaluate the nutrition status
of the patient periodically. Weekly phone calls and
monthly follow-up visits with the dietitian may be
required until weight and symptoms are stabilized. There
are many computer software packages available to analyze the calorie, carbohydrate, protein, fat, vitamin and
mineral content of a diet. The First DataBank Division of
the Hearst Corporation has a Windows-based program
called Nutritionist V that produces several reports to illustrate the nutrient content of meals or recipes. In addition,
Nutritionist V has a database to record and track patient
progress.
Managing patients with disorders of fat metabolism
requires the commitment and skill of an experienced
team. The patient and family must be included as an integral part of the team and need to demonstrate a clear
understanding of the challenges and risks of the diet therapy. As described above, the diet treatment may be beneficial. The results may be seen immediately or in a few
months, but many patients may not benefit from the
nutrient manipulation. Motivation and commitment are
key elements in the success of the diet.
Editor’s Note: The UMDF does not support or endorse any
particular metabolic center or laboratory.
Special Meeting: October 14
A membership meeting is called for Saturday, October
14, 2000, at 3:00 p.m. at the UMDF offices, 8085 Saltsburg
Road, Suite 104, Pittsburgh, PA 15239. Up for discussion
is approval of the minutes from the last meeting, discussion
of UMDF’s financial position, and election of new Trustees.
Any member is welcome to attend.
Please call 412-793-8077 for further information.
Annual Giving and The United Way
If you, a member of your family, or your friends participate in a workplace campaign for United Way and
Corporate Matching Gifts Program, please consider promoting UMDF by distributing our literature or by asking
colleagues to match your support. We will acknowledge
each gift received unless otherwise indicated
or if no address is provided.
The United Way campaign in your local
area is designed to meet a diversity of health
and human care needs. You may give an
unrestricted gift and in some areas, you may
designate UMDF as your recipient for United
Way funds. Call your local United Way office to find out
if there is a DONOR CHOICE program in your area. We
have received funds from a variety of communities
through the Donor Choice program and appreciate being
included in this effort.
Simply complete the appropriate form as follows:
United Mitochondrial Disease Foundation
P. O. Box 1151, Monroeville, PA 15146-1151
Phone (412) 793-8077 Fax (412) 793-6477
Attention: Toni Beasley
Mitochondrial News
4
Thanks To Our Contributors
2-26-00 to 8-07-00
The United Mitochondrial Disease Foundation wants to thank the many people who have made contributions that will support our initiatives.
GUARDIANS ($1000+)
In Honor Of Andrew Uhrman
Merrill Lynch
Morris & Jeannette Bir
In Honor Of Carly Platt
Stan & Carole Davis
In Honor Of Cristin Murphy Zink
Eileen Murphy
In Honor Of All Those Affected by
Mitochondrial Disease
Don Maine
In Memory Of Emma Grace and
Thomas Christopher Montgomery
Tracey & Thom Montgomery
In Honor of The Markowitz Grandchildren
Forest City Enterprises Charitable
Foundation
Hillcrest Hospital
Leonard & Joan Horvitz
Mr. Robert Kane
Dr. & Mrs. Philip Kazden
Marc’s
Dr. Martin & Mrs. Norma Markowitz
MBNA
Dr. & Mrs. Beno Michel
Jeffrey Mirvis
Mr. & Mrs. Robert M. Mirvis
National City Bank
In Honor Of 3rd UMDF Symposium
Sisters of Charity Foundation
In Honor Of Kyle Kobunski
Diane Kobunski
Richard & Sabrina DiMichele
In Memory Of Sarah Elizabeth Langer
David Langer
In Honor Of William ”Bill” Evans
Dr. Joan Evans
In Honor Of Zachary & Samuel Juhlmann
Mary Fischer
In Honor Of Mary Quincy Parsons
Mary P. Clarke
In Memory Of Emma Allard
Armen & Gloria Hampar
SUSTAINING ($500 - $999)
In Honor Of All The Children
AXA Foundation
John Crawford
In Memory Of Bridget Flanagan Fanoe
Catherine, Nick & Aengus Fanoe
In Memory Of Douglas A. Quallich
Patti Quallich
In Honor Of Erik DeArce
Mr. & Mrs. Paul DeArce
In Memory Of Gina Marie Mohan
Mohan’s Restaurant
Richard & Mary Kubach
In Honor Darby Butts
Pamela J. Butts
In Honor Of Heidi Marie Daniel
Michele Daniel
Norma Daniel Gibson
In Honor Of The Markowitz Grandchildren
Alcon Foundation
Alliance Capital Management
Marilyn Bedol
Fran and Jules Belkin
In Honor Of Jordan & Arielle Cohen
American Cancer Society/Bill Dalton
Lila & Henry Levy
Dr. & Mrs. Philip Kazden
In Memory Of Kyle Christopher Meyer
Dave & Val Meyer
Todd & Jodi Khas
In Memory Of Linda M. Rice
Joseph & Patricia Rice
In Honor Of Michael Spado
Annette Edwards
In Memory Of Philip Neff
Mr. & Mrs. Edwin Loving
In Memory Of Vikrant Nansi
Vinita Nansi
SPONSORING ($300 - $499)
In Honor Of All Affected by
Mitochondrial Disorders
John Sheedy, III
Naomi Lippincott
In Honor Of Andrew & Nathan Holland
Beaver Dam Presbyterian Church
In Memory Of Andrew David Bishop
Kimberly-Clark Foundation
In Memory Of Emma Grace &
Arizona Rangers
In Honor Of Hannah & Emma Bruder
Lisa & Scott Bruder
In Honor Of Jessica Della Zanna
Tony & Karen Della Zanna
In Memory Of Joshua Cummings
Donna Beecher
In Honor Of Kerie Krystina Dwyer
Kelley Dwyer
June & John D’Amico
PepsiCo Foundation
In Honor Of Stewart William Hodges
Mr. & Mrs. Frederick Robertson
SUPPORTING ($100 - $299)
In Honor Of Amanda N. Polsky
Marge & Joe Scaduto
Mr. & Mrs. James Duffey
Alan & Elaine Montgomery
In Honor Of Alexa Van Buren
Mr. & Mrs. John R. Farrell
In Honor Of Alicia F. Yrarrazaval
Rafael Yrarrazaval Elizalde
Lyle Schutte
In Honor Of Andrew Uhrman
Mr. & Mrs. Malcolm Zucker
In Honor Of Ashton B. Anderson
Hunter & Traci Anderson
In Honor Of Brandon Cardoso
Martha & Carlos Cardoso
In Memory Of Christopher John Carracino
Daniel Simson
In Memory Of Conor Philip Doerhoff
Mr. & Mrs. Douglas Doerhoff
In Memory Of Douglas A. Quallich
Pfizer, Inc.
In Honor Of Duncan Bender
The Album Interiors
In Memory Of Elizabeth ”Frilly” Kuykendall
S.L. McLean
Vestavia Hills Rotary Club
John & Gail Prugh and Family
Elizabeth N. Cohen
In Memory Of Emma Grace and
Arizona Rangers
In Honor Of Erik DeArce
James & Beth DeArce
In Memory Of Faoileann & Seamus Webb
Franz & Helga Geyling
In Memory Of Gina Marie Mohan
Dr. Robert F. Autore
George & Kathy Svilar
Quality Services Incorporated
Mr. & Mrs. Brian Samberg
Gateway Basketball Boosters
Robert Reynolds
Eugene & Linda Autore
Mr. & Mrs. Jeff Sboray
Guy & Celeste Autore
In Honor Of Grant M. Henry
Mr. & Mrs.Philip Brua
In Honor Of Hannah & Emma Bruder
Marlene & Howard Novasel
Richard & Pat Bruder
SUPPORTING ($100 - $299) (cont.)
In Honor Of Heidi Marie Daniel
KPMG Peat Marwick LLP
In Honor Of Jacob Willis
Chester & Faye Gierlach
In Honor Of Jakob D. Kravitz
Ellen Kravitz
In Honor Of Jeffrey Moran
Mr. & Mrs. Peter Barker
In Honor Of Jonah Oakes Walker
Patricia Walker
In Honor Of The Markowitz Grandchildren
Susan Powar
Marvin & Sheila Wolf
Dr. & Mrs. Sanford Shifrin
Dr. & Mrs. Richard Gold
Leonard & Sue Bernstein
Mr. & Mrs. Robert M. Lustig
In Memory Of Joshua Cummings
Elizabeth Miller
Mr. & Mrs. Joseph DeLuca
Mr. & Mrs. Joseph Pancaldo
Michael & Lori Levesque
In Honor Of Justin Hagdahl
Barbara & Bret Hagdahl
In Memory Of Justin T. Wilson
Donn & Patricia Falls
In Memory Of Kayla Elizabeth Naughton
Joanne O. Healy
In Memory Of Kerowyn Elizabeth Irene
Lawson
San Angelo Community Med. Ctr.
Town & Country Food Stores
Mitochondrial News
5
In Honor Of All Those Affected By
Mithochondrial Disease
Krista Scherrle
Carl Thompson
Dave & Peggy Dudash
Donald & Karen LaMonica
Betsy & Jeffrey Ahola
Tony & Molly Musca
Dr. & Mrs. John G. Poulos
Nicole & Thomas Mawby
Eric & Robin Polack
Ronald Kobunski & Family
In Honor Of Laura Dribin
Beth & Dennis Dribin
In Honor Of Laura Sullivan
Brian & Diane Sullivan
In Honor Of Laurie Buscher
Mike & Laurie Buscher
In Honor Of Margo Quarrles
Ruth & Richard Schwartz
Mitchell & Wendi McGowan
In Memory Of Matthew James Dudgeon
Sharon Cardazzi
Tim & Judy Dudgeon
County Wide Printing
Michael Sacks
Southern Catskill Track & Field
Nancy Leonard
Wendy Raupers
Antonio Dipietro
Monroe-Woodbury Babysitting Co-op
Blooming Grove Rod & Gun Club
Lillian & Dorothy McCue
Letters from the Heart
There are many ways to raise
money. The national office receives
donations in memory of loved ones,
in honor of loved ones, and in honor
of special occasions (such as
anniversaries, birthdays, etc).
We recently we received the
following letters which not only
touched our hearts but also
reminded us that there are many
ways to support UMDF’s mission.
Thank you Jack and Helen for
your thoughtfulness and generosity.
In Memory Of Megan Camaiani
Thomas Dowell
In Memory Of Morgan Elizabeth Resch
Dottie Tubbs
Jeff & Julie Kautz
Horace Mann School
In Honor Of Morgan Kozuch
William Kozuch
In Memory Of Nicholas Cornacchia
St. Bernard’s Elem. School
In Honor Of Nicholas Nunno
Gloria & Peter Colli
Mr. & Mrs. Don Bernstein
Mr. & Mrs. Michael Nunno
Mr. & Mrs. Alex Roque
Vesey & Nunno Kidvertisers
In Honor Of Paul Shubeck
Caroline A. Shubeck
In Honor Of Peter Lowney
Connie & John Lowney
In Honor Of Rhys Aaron Hirsch
Mr. & Mrs. Jerome Snider
In Honor Of Riki Kusuhara
Elaine Christensen
In Honor Of Sean Clark
John & Diane Clark
In Memory Of Stefany Hagdahl
Ken & Carol Hagdahl
In Honor Of Suzanne Marous
Joe & Rosemary Arends
In Honor Of Timothy Russell
Carolyn & Dan Russell
In Memory Of Tyler Grey Robinson
Desiree & Barry Robinson
In Honor Of Zeth Ullman
David & Kathleen Stoddard
Dear U.M.D.F,
Here is $170 from my first Holy Communion. I hope it
will help the U.M.D.F. My little brother Peter has a
mitochondrial disease too. Thank you!!!
Jack Lowney
Dear U.M.D.F.,
Just a note of explanation. I am sending this donation as a
thank-you to a Good Samaritan who changed my tire for me in
the pouring rain! I offered to pay him and he refused, so
therefore, I am sending the money I would have spent on that,
to UMDF. Please send acknowledgement to the Good Samaritan
(address was provided).
Thank you very much,
Helen Williams
Mitochondrial News
6
Fundraisers
The Rice Family - Raising Awareness in NYC
and Dollars for Research
by Joe Rice
We would like to thank everyone who participated in
the 1st Annual Fundraiser in support of the Linda Rice
Memorial for the benefit of the UMDF. The grand prize
for our first event included a two night stay in a luxury
hotel suite at the Manhattan Club and theater tickets for
the Broadway production of “Les Miserables”, donated
by the Joseph Rice Family. Also included were dinners
for two at two of Manhattan’s finest restaurants, donated
by Rossini’s and Le Madri.
Chuck Mohan, Heidi, Heidi’s mother Norma Gibson and sister
Tami at the June Conference.
Our Girl Heidi (and her entire family)
Strikes Again
This past June, Norma and Morgan Gibson held their
annual wine tasting and barbecue in honor of their
daughter, Heidi Marie Daniel. The event raised $3,963 to
date and more is expected to come in according to Heidi.
Mark Fleming, UMDF Trustee, attended the event and
addressed the crowd about UMDF.
Thanks Norma, Morgan and Heidi. Your ongoing
commitment to the UMDF Mission is outstanding!!!!
“Back to the Beach” Fundraiser
The Rice family: Sandra, Joseph and Patrica.
Thanks to the generosity of everyone who purchased
raffle tickets, we were able to raise $5,675 which will help
fund research in the field of mitochondrial disease. The
winning ticket was drawn by Linda’s surviving daughter,
Sandra, at Cafe’ Testarossa in Syosset, NY. Veronica and
Guy Garziano won the weekend in Manhattan. A second
ticket was drawn for a “dinner for two” donated by Billy
Sasson, the owner of Cafe’ Testarossa. Charlie and Teri
Zillman were the winners of this prize.
Several business establishments assisted in selling raffle tickets. We would like to thank Rossini’s Restaurant
in NYC, Cafe’ Testarossa, Richard Jean Salon and Atlantis
Health Network in St. James, NY and A.P. French
Cleaners in Smithtown. Their belief in this cause helped
our fundraiser be so successful.
A final “thank you” is sent to the UMDF Headquarters
for their never ending support and confidence in a newcomer to fundraising. Managing a fundraiser such as this
one takes a great deal of time and effort, but is also very
rewarding. We are currently trying to start a New
York/New Jersey Chapter of the UMDF (the Rice Family
and the DeArce Family are working to establish a group
and/or chapter). If anyone reading this article is interested in helping with this endeavor, please contact the Rice
Family at 631-862-8975. Thanks again to all of the
participants in the fundraiser who helped to make it so
successful.
Debra Lloyd of New York raised $331 in honor of her
son Joshua Lloyd and in memory of Morgan Resch.
Donations were received from kids participating in a
“Back to the Beach Day” at Joshua’s elementary school.
Mito-What?
In the Snow or On the Road
What a year we have had so far
with fundraisers! And our members continue to surprise us with
new ideas. In February, the Gaetjen
family (spearheaded by Victoria
Vermette) raised over $6,500 with
their first Mito-What? Ski Night
which was held at the Shawnee
Michaela Gaetjen
Peak Ski Resort in Maine. The
UMDF national office provided flyers and pledge sheets
and Michaela Gaetjen’s family and friends did the rest.
The evening was a great success - the skiing (provided
free by the resort) and the food (prepared by the event
organizers) was terrific. Thank you to all of the particpants and sponsors of the first Mito-What? Ski Night benefitting UMDF.
Moving on to the roadways is the 3rd Annual Meagan
E. Camaiani Mito-What? 5K Run/Walk which was another success! The race brought in over 280 runners from all
over Florida and raised over $7,000 to benefit UMDF.
7
Mitochondrial News
Lori and Bob Camaiani have a great committee who helps
them every year, including Michele Carieri (who was
very pregnant during the event helped make the event a
success). This year’s run was held on April 16, to honor
Meagan’s birthday.
3rd Annual Meagan E. Camaiani Mito-What? 5K Run/Walk
finish line.
From East to West - Great Human Races
Benefit UMDF!
The United Way’s Great Human Race is an event held
annually in many cities throughout the United States.
This event gives local charities an opportunity to raise
money for their cause without incurring the expenses of
sponsoring a big event. In 1999, the Arizona Desert
Angels raised over $9,000 and in the Spring of 2000, they
raised another $1,597.63.
Val Eatmon, of Durham, North Carolina, registered for
her local Great Human Race with the Volunteer Center of
Greater Durham and raised $232.50. Not too bad for
someone going to school full-time while obtaining
pledges.
Participants Walking In Memory of Bridget Fanoe
With the help of family, friends and the United Way
Volunteer Centers, anyone can increase awareness of
mitochondrial disease and raise money to continue the
UMDF Mission! If you are interested in participating in
the Great Human Race, contact your local United Way for
the Volunteer Center closest to you.
Pittsburgh Golf Outing Raises Over $30,000
The Third Annual Pittsburgh Golf Outing was held on
June 29 and played host to 120 golfers at Churchill Valley
Country Club. The event attracted several area VIPs
including State Representative Joe Markosek, Craig
Patrick of the Pittsburgh Penquins and Frank B. Fuhrer,
Jr. of Fuhrer Wholesale Company. In recognition of his
ongoing support of UMDF, Mr. Fuhrer received a humanitarian award during the dinner as a special thank you.
Chuck Mohan has been the chairperson and driving
force behind the Pittsburgh Outing but he does not stop
there when it comes to fundraising. Mr. Mohan hosts the
Mohan Car Cruise several times during the year at his
restaurant with all proceeds to benefit UMDF. Since its
beginning in 1996, the Car Cruise has brought in over
$3,000 for UMDF . Thanks Chuck!!!!
Desert Angel Participants on March 25, 2000 are Lore
Sheedy, Michael Sheedy, Karen Sheedy and John
Sheedy’s (UMDF Member) niece, Taryn Sheedy.
Back to the West Coast - Catherine and Nick Fanoe of
Salinas, California participated in Monterey County’s
Great Human Race and raised over $7,000 in pledges.
The Volunteer Center noted that they were the top
fundraising organization. WOW!
Russell Meyer (far right), grandfather of Kyle Meyer, participated in
the 2000 golf outing.
Audio & Video Order Information
The United Mitochondrial Disease Foundation
Mitochondrial Cytopathies 2000
CONFERENCE TOPICS ON TAPE
General Sessions
• Keynote Address - Bernadine Healy, M.D., President & CEO
American Red Cross
Physician Seminars
• Mitochondrial Structure & Function - Charles Hoppel, MD
• Mitochondrial Genetics - Arthur B. Zinn, MD, PhD
• Summary Panel Discussions - Bruce Cohen, MD, C. Hoppel,
MD & A. Zinn, MD, PhD
• Clinical Presentations of Mitochondrial Cytopathies - Bruce
Cohen, MD
• Diagnostic Evaluation of Suspected Mitochondrial Disorders Douglas Kerr, MD, PhD
• Summary Panel Discussions - Bruce Cohen, MD, C. Hoppel,
MD, D. Kerr, MD, & A. Zinn, MD
• Transmission and Segregation of mtDNA: Implications of
Genetic Counseling - Eric Shoubridge, PhD
• A Model of Mitochondrial Disease as a Risk Factor in
Anesthesia - Philip G. Morgan, MD
• The Role of Mitochondrial Studies and the Diagnostic Process Charles A. Hoppel, MD
• The Role of Nitric Oxide in Mitochondrial Function - Cecilia
Giulivi, PhD
• Mitochondrial Disease Diagnosis: Primary vs. Secondary
Effects - John Shoffner, MD
• Thymidine Phosphorylase in MNGIE. Cytochrome b Mutations Michio Hirano, MD, PhD
• Chronic Hypoxis and mtDNA Deletions - Steven Zullo, PhD
• mtDNA Polymerase Gamma Deficiency - Robert K. Naviaux,
MD, Phd
• Panel Discussion: R. Haas, R. Naviaux & P. Stacpoole
• Coenzyme Q10 Therapy - Richard Haas, MB, B. Chir.
• Evaluation of Dichloroacetate in Treatment of Mitochondrial
Diseases - Peter W. Stacpoole, MD, PhD
• Pyrimidine Therapy - Robert K. Naviaux, MD, PhD
• Nutritional Management of Patients with Mitochondrial
Disorders - Phyllis B. Acosta, DrPh, RD, LD
• Therapy of Disorders of Pyruvate Metabolism - Douglas S.
Kerr, MD, PhD
• Role of Carnitine Therapy in Mitochondrial Disease - Charles L.
Hoppel, MD
• Panel Discussion: P. Acosta, C. Hoppel & D. Kerr
• Case Oriented Problem Solving: Bruce Cohen, MD, Richard
Haas, MB, B. Chir.; Michio Hirano, MD, PhD, Charles Hoppel,
MD, Douglas Kerr, MD, PhD, Robert Naviaux, MD, John
Shoffner, MD, and Arthur Zinn, MD, PhD
Family Seminars
• Introduction and Overview of Energy Metabolism - Bruce
Cohen, MD
• Issues in Adults with Mitochondrial Diseases - Robert Naviaux,
MD, PhD
• End of Life Care - Sarah Friebert, MD
• Families Dealing with Chronic Illness - Sheryl Cohen, LISW
• Nutritional Support - Phyllis Acosta, DrPh, RD, LD
• Genetics of Mitochondrial Diseases - John Shoffner, MD
• Luncheon with Physicians with Question & Answer.
• Treatment for Mitochondrial Diseases - Richard Haas, MB, B Chir
• Review of the Medical Meeting - Bruce H. Cohen, MD
• Friday Night Banquet & Awards Ceremony
ORDER INFORMATION
1. FOR AUDIO CASSETTES
Cost: Single Tapes
Any 12 Tapes (in album)
Any 16 Tapes (in album)
Full set of available tapes
$5.00 per tape
(1 to 2 topics per tape)
$55.00
$69.00
$99.00
(24 tapes in albums)
Shipping & Handling Fees:
1-3 Tapes
$2.00
4-9 Tapes
$4.00
10-20 Tapes
$6.00
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$10.00
• Checks are made payable to Acoustic Recording.
Mastercard, Visa & American Express also accepted
(minimum order of $30.00, if less - add $1.00 to order)
Forms with tape grouping information available through:
Acoustic Recording
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Phone: 330-645-9678
Email: [email protected]
Or
Forms with audio tape grouping information also
available through:
UMDF Office
412-793-8077
2. FOR VIDEO TAPES
Cost:
Per Tape $20.00
Shipping & Handling
$2.50
Forms with tape grouping information available through:
UMDF National Office
Attn: Tom Martens
8085 Saltsburg Road
Pittsburgh, PA 15239
Phone: 412-793-8077 Fax: 412-793-6477
• Mail Orders must be pre-paid.
• Make checks payable to Tom Martens.
• Visa and Mastercard accepted.
Mitochondrial News
9
Mitochondrial Cytopathies 2000 Symposium Sponsors
The United Mitochondrial Disease Foundation gratefully thanks and acknowledges the generous grant-in-aid from:
Diamond ($10,000 and above)
Marsha and Allen Barnett
Fifth Third Bank
MBNA America
Platinum ($5,000-9,999)
Stan and Carole Davis
General Nutrition Corporation
Leonard and Joan Horvitz
The Kay Family Foundation and Manhattan
Drug Company
Dr. and Mrs. Martin Markowitz
Sigma-Tau Pharmaceuticals
The Cleveland Foundation
Hal Uhrman/State Industrial Products
Silver ($500-999)
Alcon Foundation
Alliance Capital Management
Marilyn Bedol
Fran and Jules Belkin
Contract Pharmacal Corporation
Copac Incorporated
HVL Incorporated
Dr. and Mrs. Philip Kazden
National City Bank
Crystal ($2,000-4,999)
Forest City Enterprises Charitable
Foundation
Hillcrest Hospital
Roche Vitamins, Inc.
March of Dimes - Northern Ohio Chapter
Mt. Sinai Health Care Foundation
Sisters of Charity Foundation of Cleveland
Steve and Bonnie Spiegle
Gold ($1,000-1,999)
Morris and Jeannette Bir
J. Richard and Rae Hamilton
Larry and Tracie Kugler
Victor Laughlin, M.D. Memorial Foundation
Marc’s
Merrill Lynch
Dr. and Mrs. Beno Michel
Mr. and Mrs. Robert M. Mirvis
Springs Blessings Fund
Tishcon Corporation
Triarco Industries
Mr. Jeffrey Mirvis
Mr. Robert Kane
Vitaline Corporation
Bronze (up to $499)
Mr. and Mrs. Thomas Adler
Leonard and Sue Bernstein
Shirley and Lew Einbund
Mr. and Mrs. Lawrence Friedman
Dr. and Mrs. Richard Gold
F.R. Huntington
Shirley and Ed Katz
Lucille Key
Mr. and Mrs. Robert Lustig
Mr. and Mrs. Howard Novasel
Susan Powar
James and Barbara Reich
Dr. and Mrs. Sanford Shifrin
Marjorie Stern
William Wedren
Marvin and Sheila Wolf
UNITED MITOCHONDRIAL DISEASE FOUNDATION
Mitochondrial Cytopathies 2000
Bruce H. Cohen, M.D. (left)
Co-chair of the UMDF
Symposium Program
Committee and
Sheryl Cohen (right),
Chair of the Family portion
of the meeting, welcome
Bernadette Healy, M.D.
(center), the keynote
speaker.
Members of the Delaware Valley Chapter of UMDF gather at the symposium.
Norma Markowitz
(second from the left) was
recognized for her fundraising
efforts for the UMDF Symposium.
She is flanked (left to right) by
her husband, Martin, daughter
Lisa Bruder, and UMDF Co-founder
Kathryn Parsons.
Members of the
Ohio Chapter
enjoy refreshments
and comeraderie.
Chuck and Adrienne
Mohan receive a
certificate of appreciation
from Mark Fleming, UMDF
Vice President and
member of the Southern
California Chapter.
The “Mitoldies”
representatives,
Merrill Allen, Alice Adams,
and Pat Kniel share
stories, information,
friendship and support.
Deb and Bill Shea (center)
officers of the New England
Chapter converse with
other meeting attendees
during one of the breaks.
Symposium program
Co-chairs Charles Hoppel, M.D.
and Doug Kerr, M.D., Ph.D.,
review some clinical aspects
of mito disorders and field
questions.
David and Pam Dobke
from Wisconsin discuss issues
with another meeting attendee.
In the background, beside the
UMDF booth, is Michelle Nelson
of Illinois.
After a long day of scientific sessions, Drs. Robinson, Haas and Shoffner enjoy a
moment at the UMDF Unity Banquet.
Mitochondrial News
12
Doctor Referrals
Looking for a Physician who Manages other Mito Patients?
We asked for assistance from the UMDF membership to provide names of
physicians who they were please with and the following names were submitted
(in alphabetical order by State):
CALIFORNIA
Richard G. Boles, M.D.
Division of Medical Genetics
Children’s Hospital of Los Angeles
4650 Sunset Boulevard, Box 90
Los Angeles, CA 90027
Office Phone: 323-669-2178
Fax: 323-665-5937
Specialty: Medical Genetics
Type of Patients Seen: Pediatric
Greg Enns, M.D.
University of California San Francisco/Stanford
Health Care
300 Pasteur Drive, H-315
Stanford, CA 94305-5208
Specialty: Genetics/Pediatrics
Referral made by member with patient affected
with Complex I Deficiency
Richard H. Haas, M.B., B. Chir.
Department of Neurosciences, University of
California San Diego
Division of Pediatric Neurology 0935
9500 Gilman Drive
La Jolla, CA 92093-0935
Fax: 858-587-8050
Specialty: Lactic Acidemia/Genetics/Metabolism
Type of Patients Seen: Both.
Fred Levine, MD, PhD
c/o Jean Stewart
MMDC, University of California San Diego
San Diego, CA 92103
Specialty: Lactic Acidemia/Genetics/Metabolism
Type of Patients Seen: Pediatric.
FLORIDA
Joseph A. Cimino, M.D.
1344 Apollo Blvd.
Melbourne, FL 32901
Office Phone: 407-952-7900 (Vicky is nurse)
Specialty: Neurology
Referral made by member with patient
affected with Complex I & III Defects and
Complex II & III.
NOTE: Dr. Cimino has over 20 mito kids
in his practice, keeps current with mito
information.
GEORGIA
Jacqueline Barclay, M.D.
Child Neurology Associates
5505 Peachtree Dunwoody Road
Suite 500
Atlanta, GA 30342
Fax: 404-847-9596
Specialty: Pediatric Neurology
affected with complex deficiencies,
mitochondrial myopathy, lactic acidosis,
OXPHOS, etc.
Alan Cohen, F.C.C.P.
Georgia Pediatric Pulmonology Associates
1100 Lake Hearn Drive
Suite 450
Atlanta, GA 30342
Fax: 404-257-0337
with complex deficiencies, mitochondrial
myopathy, lactic acidosis, OXPHOS, etc.
Nicolas Krawiecki, M.D.
Children’s Healthcare of Atlanta at Scottish Rite
Molecular Medicine Laboratory
5455 Meridian Mark Road, Suite 530
Atlanta, GA 30342-1600
Fax: 404-250-2660
Specialty: Genetics and Molecular Medicine
with mitochondrial disease.
John Shoffner, M.D.
Children’s Healthcare of Atlanta at Scottish Rite
Molecular Medicine Laboratory
5455 Meridian Mark Road, N.E.
Suite 530
Atlanta, GA 30342-1600
Toll Free: 888-448-1495
Fax: 404-250-2660
Specialty: Medical Genetics
affected with complex deficiencies,
mitochondrial myopathy, lactic acidosis,
OXPHOS, etc.
ILLINOIS
Ammar Katerji, M.D.
Swedish American Hospital
1400 Charles Street
Rockford, IL 61104
Fax: 815-966-2092
with Complex I, MELAS, and COX.
INDIANA
Rebecca S. Wappner, M.D.
Riley Hospital for Children
702 Barnhill Drive, Room 0907
Indianapolis, IN 46202-5225
Fax: 317-278-0936
Specialty: Metabolic Disorders
with Leighs Disease.
MARYLAND
Andrea L. Gropman, M.D.
Neurogenetics Branch
National Human Genome Research Institute,
NIH
10 Center Dr., Bldg. 10, Rm 3304
Bethesda, MD 20892
Fax: 301-480-3365
Specialty: Pediatric Neurology Medical Genetics
Type of Patients Seen: Both
Referral made by a member with patient
affected with Complex I deficiency.
MASSACHUSETTS
Mark S. Korson, M.D.
Boston Children’s Hospital, Metabolism
300 Longwood Ave.
Boston, MA 02115
Specialty: Metabolism
Referral made by a member with a patient
affect with Leighs and Complex Deficiencies.
Thomas Magerian, M.D.
Boston Children’s Hospital, Neurology
300 Longwood Avenue
Boston, MA 02115
Referral made by a member with patient
affected with Leighs.
MICHIGAN
Jeffrey Levin, M.D.
4705 Towne Center
Saginaw, MI 48604
MINNESOTA
Stephen A. Smith, M.D.
HCMC EM/Neuromuscular Lab
825 South 8th Street, Ste LL-05
Minneapolis, MN 55404
Fax: 612-904-4240
Specialty: Neuromuscular
Type of Patients seen: Both
Referral made by a member with patient affected with Mitochondrial Myopathy.
NEW JERSEY
Kenneth Hirsch, M.D.
Rivendell Pediatric & Adolescent Medicine
704-A East Main Street
Moorestown, NJ 08057-3070
Fax: 856-787-1896
Specialty: Pediatrician
with complex I.
NEW YORK
Darryl DeVivo, M.D.
Neurological Institute
710 West 168th Street
New York, NY 10032
Fax: 212-305-7036
with complex I.
NORTH CAROLINA
G. Robert DeLong, M.D.
Division of Pediatric Neurology
P.O. Box 3936
Duke University Medical Center
Durham, NC 27710
Fax: 919-681-8943
complex deficiencies, mitochondrial myopathy,
lactic acidosis, OXPHOS, etc.
Neal Speight, M.D.
2317 Randolph Road
Charlotte, NC 28207
Type of Patients Seen: Adults
13
OHIO
Bruce H. Cohen, M.D.
The Cleveland Clinic Foundation
Desk S-71
9500 Euclid Avenue
Cleveland, OH 44195
Office Phone: 216-444-5559 (appointments)
Fax: 216-445-9139
Specialty: Pediatric Neurologist
with Complex III.
Douglas S. Kerr, M.D., Ph.D.
Case Western Reserve University School of
Medicine and
Rainbow Babies and Children’s Hospital
11100 Euclid Avenue, Rm 790
Cleveland, OH 44106-6004
Specialty: Endocrinology and Metabolism
with Complex I & IV Defect.
Thomas L. Taxman, M.D.
The Institute for Women’s & Children’s Health
2460 Fairmont Blvd., #312
Cleveland Heights, OH 44106
Fax: 216-791-5588
Specialty: Gastroenterology
OREGON
Robert Steiner, M.D.
Oregon Health Sciences University,
Metabolic Clinic
P.O. Box 574, Mail Code: CDRC-F
Portland, OR 97201
Fax: 503-494-2781
Specialty: Pediatrics and Molecular and Medical
Genetics
with Complex I & IV Deficiencies/Leighs.
PENNSYLVANIA
Gerard T. Berry, M.D.
Professor of Pediatrics, University of
Pennsylvania School of Medicine
Abramson Research Center - 402
34th & Civic Center Blvd.
Philadelphia, PA 19104
Fax: 215-590-4297
Neil A. Busis, M.D.
Shadyside Medical Center
5200 Centre Ave., Suite 612
Mitochondrial News
Fax: 412-681-2474
Speciality: Neurology
Type of Patients Seen: Adults
Referral made by a member affected with
Mitochondrial Myopathy.
Paige Kaplan, M.D.
Children’s Hospital of Philadelphia
34th Street & Civic Center Blvd.
Philedelphia, PA 19104
Fax: 215-590-4297
Rajiv R. Varma, M.D.
1811 Boulevard of the Allies
Pittsburgh, PA 15219-5915
Fax: 412-281-2015
Referral made by a member with patient affected with MELAS.
TEXAS
Fernando Scaglia, M.D.
Department of Molecular & Human
Genetics/Pediatrics
Texas Children’s Hospital
Feigin Center, Suite C235
6621 Fannin, Mail Code 3-3370
Houston, TX 77030
Specialty: Molecular and Human Genetics
with Complex I-III Deficiency.
OVERSEAS
SOUTH AFRICA
Michael Lippert, M.D.
P.O. Box 25314 Monument Park
Pretoria, 0105 South Africa
Office Phone: 012-344-1328 (overseas)
Fax: 012-344-1357 (overseas)
Referral made by a member with patient affected with Mitochondrial Enzyme Disorder.
UNITED KINGDOM
Professor A. Schapira
National Hospital for Neurology
Queens Square
London, WC1N 3BG UK
Office Phone: 44-171-830-2012 (overseas)
Fax: 44-171-431-1577 (overseas)
Speciality: Neurology
Mitochondrial News
14
UMDF Research Grant Awards Total $55,000 In 2000
The UMDF awarded $55,000 for
research grants in 2000. Dr. Dikoma
Shungu (New York, New York) will
be using $36,719 of UMDF money to
refine the measurement of lactic acid
levels in cerebrospinal fluid without
the need for lumbar punctures. The
remaining $18,281 goes to Dr. George
Perry (Cleveland, Ohio) for his study
of the role of mitochondrial abnormalities in aging diseases, such as
Alzheimer’s. I’ve included the
details of each grant below.
The UMDF membership has
shown wonderful and consistent
support for mitochondrial disease
research. Your support is the reason
this program has been such a success.
Keep up the good work.
Researchers: We have a total of
$60,000 available for the 2001 grant
cycle. Letters of Intent are due by
September 17. Please contact the
UMDF main office for a grant packet
at 412-793-8077 or via email
[email protected].
Project Summaries:
Principal
Investigator: Dikoma Shungu
Amount of award: $36,719
Award date: July 2000
Project summary:
This research will seek to develop
a test for screening patients suspected
of having a mitochondrial disease.
The test will be noninvasive in that it
will be based on using magnetic resonance spectroscopic imaging (MRSI) a technique that is nearly identical to
standard MRI, except that it can measure levels of various biochemicals in
the human body - to precisely quanti-
UMDF Member, Joe
Rice (third from left), of
Long Island, presenting
grant award to Dr.
Dikoma C. Shungu
(second from left).
Also pictured is Dr.
Salvatore DiMauro (far
left) and Dr. Darryl
DeVivo (far right).
fy levels of lactic acid in the cerebrospinal fluid (CSF) of suspected
patients. We believe this to be worthwhile because studies we have conducted over the past 5 years on many
patients with mitochondrial diseases
have shown that a large proportion of
these patients have measurable levels
of lactic acid in their CSF, whereas
control individuals did not. If further
refined, this technique for measuring
lactate in the CSF may prove to be a
very useful tool for screening patients
with mitochondrial diseases, and
helping assess the degree of severity
of the disease and its progression in
future clinical trials of promising
therapies.
begins as mitochondrial abnormalities. To address this issue, we will
1) determine the relationship
between oxidative damage, mitochondrial abnormalities and the
pathology of the disease; and 2)
determine whether some of the
relationships noted in Aim 1 for AD
hold true for Down syndrome.
Completion of these aims will help
to define the relationship of oxidative damage to mitochondrial
abnormalities.
Principal
Investigator: George Perry
Amount of award: $ 18,281
Award date: July 2000
Project summary:
Evidence continues to accumulate
that increased oxidative damage is
important in Alzheimer Disease (AD)
and may be the biochemical basis of
the increased incidence of AD with
aging. In published studies, we have
shown oxidative damage affects
every neuron in susceptible neuronal
populations in cases of AD, but not
in normal people. In unpublished
studies, we show that the only abnormality of vulnerable neurons in AD
is changes in mitochondria. This
proposal will specifically investigate
the idea that oxidative damage in AD
UMDF is the fortunate recipient
of a donation from Dick and Carol
Perry of 12 original lithographs
done by famous comedian and
artist, Red Skelton.
Red Skelton Lithos
on Display
In order to attract members of
the community and others interested in Red Skelton, the lithographs
are displayed for the public at the
UMDF facility. This gives us an
opportunity to meet people and
provide information about mito
disorder.
If you or anyone you know lives
in or will be visiting the Pittsburgh,
PA area, please encourage them to
stop by the office!
The History of UMDF
by Marsha Barnett
A
15
Children’s Hospital. When Lee and I
spoke, they were well into the planning of their conference. I optimistically agreed that the Barnett Center
and St. Christopher’s would do the
next symposium in Philadelphia.
By the Indianapolis symposium, a
number of individuals and organizations expressed interest in meeting
one another. These included the COX
Foundation, started by Chana Scholl
and then headed by Chuck Mohan,
and PALS (People Affected by Leigh’s
Syndrome), represented by Mark
Fleming. All the organizations were
small groups trying to do the same
thing as NLDF. National Leigh’s
Disease Foundation was the longest
established organization with the
strongest financial position, the Cox
Mitochondrial News
heart our intentions, we created the
United Mitochondrial Disease
Foundation. In 1996, Charles
Wilbanks retired, dissolved NLDF,
and donated the NLDF assets to
UMDF to finalize the mergers with
COX and PALS into UMDF. Marsha
Barnett, Mark Fleming, Sherri
Greenlee, Chuck Mohan, Lee Neff,
and Kathryn Parsons made up the
founding board of UMDF. UMDF
held its first official board meeting on
October 4, 1996 in Irvine, California.
In addition to the names previously
mentioned, the following served on
UMDF’s Board of Directors in 1996:
Catherine Higginbotham, Lauren
Johnson, Kathy Malone, Tami
Monson and Nick Rillo. For the
first two years, UMDF was run solely
fter the tremendous success of
the Cleveland Symposium, the
first mitochondrial meeting organized
by UMDF, it became clear that to
appreciate how far UMDF has come,
we need to remember how it began.
All accounts are interpreted by someone. This is how I remember it.
Our sons, Chuckie and Michael,
died of Leigh’s disease in 1981 and
1983. I had never heard of “metabolic disorders” until then and established the Barnett Center at St.
Christopher’s Hospital for Children
to help other families find diagnoses
sooner than we did. So I was very
surprised one Sunday
morning in April, 1991,
to see Charles Osgood
reporting a story on a
family in San Antonio,
Texas, who had two of
their three children
affected with Leigh’s
disease. I tried to contact the family and was
referred to Mr. Charles
Wilbanks at National
Leigh’s Disease
Foundation (NLDF)
UMDF’s Board of Directors (left to right)- October 4, 1996: Kathryn Parsons, Lee Neff, Laura Johnson,
Kathy Malone, Tami Monson, Mark Fleming, Marsha Barnett, Nick Rillo, Catherine Higginbotham and
located in Mississippi.
Chuck Mohan. Founding Board Members (all pictured here) included Marsha Barnett, Mark Fleming, Sherri
How could I have lost
Greenlee, Chuck Mohan, Lee Neff and Kathryn Parsons.
two children and not
even known such an organization
Foundation brought its database and
by the volunteer efforts of the board.
existed? Mr. Wilbanks began NLDF
inspiring
leader,
and
PALS
offered
its
Part-time staff became necessary in
after his grandson was diagnosed
library
of
articles
and
strong
volun1998 to help handle the growing
with Leigh’s disease. After some disteer
base.
There
were
also
individuorganization, and last year, UMDF
cussions, Mr. Wilbanks asked me to
als,
like
Kathryn
Parsons,
not
affiliathired Leslie Boyer as its first full-time
join the Board and became my coned
with
any
group,
but
determined
to
Executive Director.
tact person in the world of mitochonbring
everyone
together.
At the meeting in Chicago, the
drial disease.
The
interested
parties
agreed
to
UMDF
mission statement was adoptAs activity at the Barnett Center
meet
in
Chicago
in
November
1995.
ed,
“To
promote research for cures
and in mitochondrial medicine began
The
meeting
was
hosted
by
the
NLDF
and
treatments
of mitochondrial disto increase, Dr. Warren Grover, the
and
its
board
members
who
included
ease
and
to
provide
support to affectmedical director of the Barnett
myself,
Penny
Baum,
Joe
Carracino,
ed
families.”
Our
faith
in the united
Center, suggested that we sponsor a
Donald
Garrison,
Sherri
Greenlee,
effort
is
the
reason
that
UMDF
has
symposium on mitochondrial disLee
Neff,
Fred
Sacco,
and
Charles,
achieved
such
outstanding
success
eases. I called to discuss this with
Chip, and Nancy Wilbanks. We came
in only five short years. New players
Mr. Wilbanks. He informed me that
together
believing
that
we
are
will come and go, but only by keepMatt and Lee Neff had proposed a
stronger
as
a
group
than
we
are
as
ing this history close to our heart can
similar symposium to be held in
individuals
working
separately;
out
we continue to repeat the founders’
memory of their son, Philip, in
of
this
meeting,
with
this
belief
at
the
success.
Indianapolis in June, 1995, with Riley
Mitochondrial News
16
Chapters and Support Groups Fundraising
New England Chapter
The Great Hunt Photo Camera Chase 12K Run & Walk
was held on May 28 to benefit UMDF and it was organized by Eileen Mitchell, UMDF chapter officer. This race
is an annual event and it has supported several different
organizations in the past. Eileen took the initiative and
asked the committee of the event to support UMDF. And
they did. The event raised over $10,000 for UMDF and
$4,254.08 of that came from pledges obtained by Jackie &
John Tyler. The Ingram family obtained over $1,400 in
pledges and Eileen herself obtained over $500 along with
her duties organizing the event.
President Jennifer Lyman (left) and Jamie Webber (right)
of the Ohio Chapter display information at the June
conference.
Ohio Chapter - CoreComm Donates $10,000
CoreComm, a Cleveland-based full-service telecommunications provider, donated $10,000 to support the important mission of the United Mitochondrial Disease
Foundation, Ohio Chapter. CoreComm has traditionally
supported causes that assist in the promotion of awareness, education, and support for the lives and families
affected by devastating diseases such as Mitochondrial.
Marty Lyman is a CoreComm Area Sales Manager, and
father of three-year-old Caroline who has been battling
Mitochondrial disease since she was four months old.
Lyman explains, “Generous donations from companies
like CoreComm are instrumental in our battle with this
disease. Aggressive research is yielding valuable data
which helps in our ultimate goal of finding a cure for this
debilitating and often deadly disease. We are grateful
and encouraged by CoreComm’s caring attitude and willingness to take action.”
For more information about CoreComm, please visit
www.core.com or call toll-free 1-877-CORECOM.
Kids Fun Run at The Great Hunt Race.
This type of event not only raises much needed money
for research and support but it also spreads the word
about mitochondrial disease. Eileen provided the national office with an article printed in the Wakefield Observer,
a local newspaper. It was an excellent example of getting
the word out in the community!
The New England Chapter, including chapter officers
Bill and Deb Shea, should be very proud of their first official event and it has been revealed that they may have an
even larger event planned for this Fall. Wow! Thanks for
the hard work.
Delaware Valley Chapter of UMDF
Busy, Busy, Busy Raising Money!
Shelly’s Heroes 5K and 1 Mile Run/Walks and Tot
Trots was held on March 18, 2000 in Hatfield, PA. This
run was organized by the Kratz family, Michelle, Carolyn
and Joanne Kratz, to benefit the UMDF and in recognition
of the Shelly family of Harleysville, PA. Pat and Maripat
Shelly are chapter officers and the driving force behind
many fundraisers. They have a very active chapter and a
great deal of support from their community, family and
friends.
The Shelly’s Heroes Run brought in over $10,000 exceeding their expectations! Merck & Co., Inc., was one
Mitochondrial News
17
of the major sponsors of the event - we are grateful for
their generosity and support.
As you may recall, the Shellys help organize the “You
Go Girl” Golf Outing every year. They will be supplying
the national office with a “How to” guide for anyone
interested in hosting a similar event. Call the office at
412-793-8077 if you are interested in hosting your own
“You Go Girl” Golf Outing.
latest dues renewal notice. If you did not receive the
recipe format, please contact the national office at 412793-8077 or check out the web site (www.umdf.org)
under News and Activities - Fundraising section. Call
as soon as possible - don’t miss the deadline.
NEW Fundraiser
This chapter does not stop at running or golfing. They
are now preparing a cookbook featuring favorite recipes
from UMDF members, friends, and families. All proceeds from the sale of this cookbook will go to UMDF.
Each recipe selected will show the name of the recipe
contributor along with recognition of an affected friend
or family members (e.g. In Honor of Joseph Smith, or In
Memory of Susan Jones.)
The national office mailed the recipe format with the
Desert Angels, of Phoenix, AZ, were busy with the
Great Human Race and their first ever multi-family yard
sale. They received truckloads of donated items and held
a one day sale that brought in over $700 in honor of
Christian Marshall. A handful of volunteers gave their
time and effort to make this a success and a special
thanks to Debbie Strauss, sister of Cathleen Kane (Desert
Angels group leader), who gave up her spring break to
organize the event. One Source Digital Printing of
Phoenix donated the advertising flyers - Thanks!
Arizona Desert Angels Hold Yard Sale
Support Groups and Chapters Continue to GROW
Arizona Groups, The Desert Angels Support Group and
Arizona Chapter (Chapter - newly forming)
Desert Angels Contact: Cathleen Kane
Phone: 480-807-8271 or 480-807-3201
Chapter Contact: Karen Lipps
Phoenix, AZ
Atlanta Area Support Group (newly forming)
Contact: Fair Franklin
Atlanta, GA
Australia Support Group (newly forming)
Contact: Tara Collyer
Phone: 07 3299 2607
Kingston, Queensland, Australia
Delaware Valley Chapter & Support Group
Contacts: Maripat & Pat Shelly
Philadelphia, PA
Website: http://thequestnet.com/DelValumdf/dvumdf.htm
Greater Washington, D.C. Area Mitochondrial Support Group
Contact: Andrea Gropman, M.D.
Bethesda, MD
Melbourne Mitochondrial Support Group
Contact: Kathy McElhinny and Christine Golden
Email:[email protected]
Melbourne, FL
New England Chapter & Support Group
Contacts: Eileen Mitchell, Deb & Bill Shea
Boston, MA
New Mexico Chapter (newly forming)
Contact: Laura Owens
Albuquerque, NM
New York, Northern Area (newly forming)
Contact: Angela Geising
Buffalo, NY
New York, Southern Area (newly forming)
Contact: Beth DeArce or Joe Rice
New Paltz, NY
Ohio Chapter & Support Group
Contact: Jennifer Lyman
Cuyahoga Falls, Ohio (Cleveland area)
Southern California Chapter & Support Group
Contacts: Sharon Shaw or Lissa Mirand
Emails: [email protected]
Orange, CA (Los Angeles area)
Western Pennsylvania Support Group
Contact: UMDF Office
Monroeville, PA (Pittsburgh area)
Wisconsin Support Group (newly forming)
Contacts: Dave & Pam Dobke, The Heyer Family
Emails: [email protected] (Sharon or Jim)
Emails: [email protected] (Wendy)
Milwaukee, WI
Looking for a Physician who Manages other Mito Patients?
In the past issues of the Mitochondrial News, the UMDF asked its membership to provide names of doctors who
manage Mito patients. For all those members who submitted doctor names, thank you! Once a member provided a physician name, we requested (from the physician’s office) permission to release the doctor’s name and
contact information for print in the UMDF newsletter. However, for many of the submitted names, the physician’s
office did not respond. As a foundation, we cannot make referrals or recommendations, but we know it is difficult
to find doctors who treat other mitochondrial patients.
The doctor referrals on pages 12 and 13 of this issue were submitted by our membership and the physicians
gave UMDF permission to release this information. Please help us broaden our list of physician names for the
benefit of all those affected by mitochondrial disease.
If you are pleased with your physician(s), please take a few moments to fill out this form, and send it in ASAP
so that we may publish results in the next issue. To expedite the process, please ask your physician to complete
Part B of this form and then fax or mail the form back to our office at your earliest convenience. The UMDF fax
number is 412-793-6477.
Thank you.
Part A (to be completed by the UMDF member)
Name of Physician ______________________________________________________________
Your Name ____________________________________________________________________
Your Phone Number ( ____ ) ____________________________________________________
Mito Patient’s diagnosis and age ___________________________________________________
(If you wish to remain anonymous, please complete the information below and we will contact the physician’s office).
Part B (to be completed by the Physician’s office)
Institution (if any) _______________________________________________________________
Address ______________________________________________________________________
City ________________________________________ State ______ Zip _________________
Phone ( ____ ) ___________ Fax ( ____ ) ___________ Email _________________________
Specialty _____________________________________________________________________
Pediatric ■
Adult ■
Both ■
Please indicate the following:
■ Yes, I give my permission to print my name, address and phone numbers as listed above in an upcoming
issue of the Mitochondrial News.
■ No, I do not give my permission to print my information in the newsletter.
■ No, I do not give my permission to publish my information in the newsletter but the UMDF office staff may
provide the information on an as needed basis to members.
Please sign and date:
________________________________________
Physician Signature
_________________
Date
UMDF MEMBERSHIP AND DONATION FORM
■
■
■
■
Enclosed are my $35 Annual Membership Dues (Outside U. S. $50 in U. S. Currency )
Enclosed is my gift of $ _______ to UMDF to help sustain research and family support.
Donors of $40 or more wishing to receive a complimentary issue of Mitochondrial News.
Change of address
MAKE CHECKS PAYABLE
TO: U.M.D.F.
MEMBER / DONOR
UMDF is a 501(c)(3)
Organization.
Gifts are tax-deductible
according to IRS regulations.
Name
Address
▼
City
State
Phone: Home
Zip
Work
FAX
Email Address
PLEASE CHECK
■
■
■
■
■
Patient
■ Spouse
Parent
Relative
Friend / Teacher / Other
Medical Professional
Specialty ______________________
■ Professional Organization
Name _________________________
Affected adult(s) / child / children’s name
and date of birth:
__________________________________________
UMDF can now accept MAC
and VISA
credit card charges for
donations and dues.
Fax or mail the following
information to UMDF:
credit card number,
expiration date,
names as listed on the
card and signature.
▼
__________________________________________
__________________________________________
__________________________________________
__________________________________________
Mail membership, donations
and address changes to:
UMDF
P.O. Box 1151
UMDF MEMBERSHIP RELEASE FORM
IF YOU WANT
TO NETWORK,
please fill out this form
and send to UMDF
even if you are already
a member
Name
Address
City
State
Phone
Zip
FAX
By signing the undersigned Release,
the signator authorizes the release of name,
addresses and/or phone numbers to be provided
to other UMDF members.
Email Address
GENERAL RELEASE
Please ■ DO ■ DO NOT provide my name and address to other members in my area.
■ DO ■ DO NOT include my phone number.
■ DO ■ DO NOT include my email address.
Signature ________________________________________
Date ________________
If a physician or scientist requests names and
addresses, the member will be contacted and
given the doctor’s name. Under no circumstances
will any member’s name be released to anyone
but another member, and only if you have
approved such release by indicating above.
UMDF assumes no responsibility for the
protection of the data except as described
specifically in this release. At anytime, you may
revoke your approval by delivering a written
request to UMDF. Confidentiality is of utmost
importance to UMDF and is essential to
encourage networking among members.
NONPROFIT ORG.
U.S. POSTAGE
PAID
P.O. Box 1151
Phone 412-793-8077
Fax 412-793-6477
email: [email protected]
http://www.umdf.org
Pittsburgh, PA
Permit No. 4899
Volume 4 • Issue 2 • Summer 2000
In This Issue:
Symposium 2001 Schedule . . . . . . . . . 1
Nutritional Therapy . . . . . . . . . . . . . . 1
Editor’s Report . . . . . . . . . . . . . . . . . . 2
Contributors . . . . . . . . . . . . . . . . . . . 4
Fundraisers . . . . . . . . . . . . . . . . . . . . 6
Symposium Photo Highlights . . . . . . . 10
Doctor Referrals . . . . . . . . . . . . . . . 12
Research Grants . . . . . . . . . . . . . . . . 14
History of UMDF . . . . . . . . . . . . . . . 15
Support Groups . . . . . . . . . . . . . . . . 16
Doctor Referral Form . . . . . . . . . . . . 18
Membership Form . . . . . . . . . . . . . . 19
NIH Launches Clinical Trials Web Site
Patients and their families will have easy access to information
about current clinical trials on a new Web site launched recently
by the U.S. National Institutes of Health (NIH). The site, developed by the NIH through its National Library of Medicine
(NLM), can be found at www.ClinicalTrials.gov.
The site lists more than 4,000 clinical studies at 47,000 sites,
sponsored primarily by the NIH. It tells what
each study involves, whether participants are
being recruited, and requirements for eligibility.
Contact information is provided for those who
would like more information.
During the coming year, additional studies
from other federal agencies and the pharmaceutical industry will be included. The site, which
will be updated often, will provide helpful
information to health care professionals, as well as to patients,
family members, and the general public.
It is being developed as a result of an amendment to the FDA
Modernization Act of 1999 sponsored in Congress by Senator
Diane Feinstein (D-CA), for which NORD served as an advocate,
requiring the establishment of a registry of both federally and
privately funded trials for serious diseases or conditions. You
will find a hypertext link to the site in the Library of Linkages on
NORD’s web site at www.rarediseases.org.
Reprinted from NORD’S Orphan Disease UPDATE,
Volume 18, Edition 1, Spring 2000
NIH Minisymposium Tapes
Available
On March 14, 2000, the NIH held its 2nd
Mitochondria Minisymposium and Dr. Steve
Zullo has provided the UMDF national office
with video tapes of the program.
Some topics include the following:
Heteroplasmy Screening of the Entire mtDNA
by TTGE
Polarography and Spectrophotometry:
Making Sense of Respiratory Chain Assays
in Clinical Mitochondrial Disease
Results of the Open Label DCA Trial
Complex I Defects in Oxidative
Phosphorylation Disease
Pyrimidine Therapy of Mitochondrial Disease
Gene Therapy of Mitochondrial DNA Mutations
Mitochondrial DNA repair in vitro
and more.
Cost is $75 for a set of five tapes
(only sold in sets). If you are interested in
obtaining these tapes, please send check or
money order payable to UMDF to:
UMDF - NIH Tapes
8085 Saltsburg Road

Vol. 5, Iss.2 - The United Mitochondrial Disease Foundation

Transcription

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