MNEWS ITOCHONDRIAL...2 Mitochondrial News Spring/Summer 2006 Living with mitochondrial disease...

United Mitochondrial Disease Foundation

Volume 11 � Issue 2 � Spring/Summer 2006

The previous newsletter article titled�Results of the Families Dealing withMitochondrial Disease On-lineQuestionnaire� discussed the results ofa study in which depression and anxietywere found to be very common amongthe matrilineal relatives of patients infamilies with probable maternallyinherited mitochondrial disease.Matrilineal relatives are individualsrelated entirely through women andinclude one's mother, siblings andmaternal aunts/uncles and grandmother.As mitochondrial DNA (mtDNA)entirely comes from the mother, notfrom the father, in the absence of arecent mutation (genetic change), theseindividuals all share the same mtDNAsequence. We set out to validate ourfindings by conducting a second study,which was also recently published(Boles et al., 2005, American Journal ofMedical Genetics Part B,Neuropsychiatric Genetics, 137B:20-24).

In this second study, 15 families withmaternally inherited mitochondrialdisease (our "MIMD" group) wererecruited from the Genetics Clinic atChildrens Hospital Los Angeles.Although the MIMD group is verysimilar to the PMI group of theprevious study, a key advantage of thissecond study is that we know a lotmore about the families. The maindrawback is that there are far fewerfamilies. Another key differencebetween the two studies is that thecontrol group in which to compare datais different, consisting of 18 familieswith known diagnoses of non-

Depression and Anxiety inMitochondrial Disease

Richard G. Boles, M.D. Childrens Hospital Los Angeles

ITOCHONDRIAL EWSNM

10th AnniversaryRecognitions

Page 4

Chapter NewsPages 5-8

Vacation Toward a Cure Winners

3

Atlanta 2006Symposium Pages 16-17

?Ask theMito Doc

See Page 2

Continued on page 10

The Atlanta 2006: Mastering theMitochondrial Maze conferencehas come to a close. On behalf ofour course director, Dr. JohnShoffner, the Scientific PlanningCommittee, MitochondrialMedicine Society, MitochondriaResearch Society, Children'sHealthcare of Atlanta, and theUnited Mitochondrial DiseaseFoundation, special thanks goes toall of our financial supporters,exhibitors, faculty, volunteers andour attendees for making the eventa success.

More than 150 physicians,scientists and clinicians have a newperspective on mitochondrial


During the Friday night banquet,John DiCecco, UMDF Chair, and

Michael Friedberg present theChairman�s Prize to Vishal Gohil� one of UMDF�s 2006 funded

researchers.

Atlanta 2006: Mastering theMitochondrial Maze Attracts

400 Attendees

UMDF Familiesdefinitely go the

extra MILE for Mito

See Pages 8, 20

Special Thanks toThe Sage Foundation forTheir Continued Support of

the United MitochondrialDisease Foundation.

2 Mitochondrial News Spring/Summer 2006

Living with mitochondrial diseasepresents many twists and turns � amaze of questions. UMDF is pleasedto offer answers to some of thosequestions. All questions andresponses are taken fromwww.umdf.org � Ask the Mito Doc.Please note that informationcontained in Ask the Mito Doc is forinformational and educationalpurposes only. Such information isnot intended to replace, and shouldnot be interpreted or relied upon as,professional advice, whether medicalor otherwise.

Responders for this issue: AndreaGropman, MD, FAAP, GeorgetownUniversity Medical Center,Washington, DC and Michio Hirano,MD, Neurological Institute, NewYork

The Question is: Our 13-year-old son, presumed

mito, has had significant cognitivetrouble over the past few years andtested recently in the mild MRparameters.This has been aprogressive difficulty, and itfrightens us that if we don't turn itaround, we don't know how far thecognitive dysfunction will progress.He uses O2, and also bi-pap to blowof CO2 retention. We want toaggressively seek out the problemsand solutions. Our questions: Whatsuggestions do you have as far astesting that should be done, and is itjust inevitable to see progressivecognitive impairment in mito kids?Would it help to aggressively seekout a specific type mito disorder?Thank you for your time.

Response From:Andrea Gropman, MD, FAAP

Thank you for your question. Iam sorry to hear that your son ishaving cognitive issues.

Cognitive decline can be afeature of mitochondrial disordersas well as result from a variety ofother causes. Because I don't knowyour son's history, nor do I knowwhich testing was done andwhether it was performed duringoptimal conditions and/or whetheryou believe it was a truerepresentation of your son'sabilities, I cannot answer except ina general manner.

Cognitive decline in neurologicdisorders may be static(unchanging), progressive (gettingworse with time) or waxing andwaning (gets worse with an episodeof illness or event and improvesduring recovery either to baselineor below baseline). In terms ofreversibility, it is important to ruleout conditions which may cause orlook like cognitive decline but maybe potentially treatable. Thiswould include, for example,epilepsy or seizure disorders,medication effects or the presenceof other illnesses.

Either clinically evident orsubclinical seizures may presentwith apparent cognitive decline andmay be improved with medicationsin some cases. Therefore, if thereis concern that your son could behaving seizures (changes inbehavior, staring, shaking spells,etc.), an EEG can be requested.

You mentioned that your son ison CPAP and has a tendency forCO2 retention. Hypoxia (lowoxygen and high CO2) can causecognitive slowing, therefore itwould be important for your son'spulmonologist to ensure that hisoxygen status is adequate.

Medications can have cognitiveside effects. If your son is takingany medications, you should reviewthe list with your son's physician todetermine if medication side effectsmay be an issue.

Chronic diseases (other thanmito), such as liver or kidneydisease, may lead to secondarycognitive decline due to toxins.Endocrine disorders can alsopotentially cause cognitiveproblems (thyroid, diabetes, etc.)

MRI imaging can give a pictureof the degree of anatomic injury tothe brain and whether it appearsfixed or potentially reversible.However, a completely normal scandoes not necessarily denote normalbrain function.

Lastly, the choice of cognitivetest can be important in giving aclear picture of his true abilities.For example, in a nonverbal child,use of a test that is heavilylanguage based (as are most IQtests) would underestimate abilitiesand IQ and may not be appropriate. The Question is:

What are the most recent (2006)recommendations for nutritionalsupplements and their dose rangefor adults with MELAS?Response From:Michio Hirano, MD

The recommendations fornutritional supplements formitochondrial patients have notchanged significantly over the lastfew years. Our recommendationsare as follows: Coenzyme Q10(CoQ10) 50-200 mg three timesdaily (although some patients withprimary CoQ10 deficiency havetaken up to 1000 mg three timesdaily); levo-carnitine (L-carnitine)300-1000 mg three times daily(many patients developgastrointestinal side-effects at highdoses); Thiamine (vitamin B1) 50-200 mg daily; Riboflavin (vitaminB2) 50-600 mg daily; Vitamin C100-400 mg daily (usually dividedinto 2-3 daily doses); Vitamin E200-1200 IU daily; Vitamin K3 5-80 mg daily; Folate 1-10mg daily;Alpha-lipoic acid up to 400mgthree times daily; Creatinemonohydrate 5-10 grams daily;Idebenone 45-360 mg three timesdaily (Sometimes used instead ofcoenzyme Q10).

?Ask the

Mito Doc

Chairman�s Messageby John DiCecco

3Mitochondrial News Spring/Summer 2006

The entire board, membership,staff, and scientific and medicalpartners of the UMDF have, overthe last 10 years, been focused onthe foundation�s mission � alwayssupporting research for a cure,better treatments, less invasivediagnosistic procedures, and bettermethods to educate and expand theawareness of mitochondrial diseasethroughout the United States andother countries.

I have been associated with theUMDF since its inception and haveseen the evolution of thefoundation, watching it grow insize, strength and effectiveness.This transformation from a smallorganization into a multi-milliondollar foundation has been theresult of everyone remainingfocused on the mission and thefuture.

The continued success of thefoundation, and ultimately theachievement of its mission, isdirectly dependent on strongleadership � setting high goals andworking with a sense of urgency toachieve them. More and moreindividuals are being diagnosedeveryday, and yet we have only thehope that some day we will besuccessful. Yes, we have madesome strides as evidenced at thisyear�s Atlanta conference:! An increase in new and younger

researchers are entering the fieldas a result of our grant program.

! The foundation continues toeducate hundreds of peopleevery year.

! An increased interest in MitoGroups, Chapters andAmbassadors. Our most recentaddition, the Chicago Chapter,was introduced during theconference.We have just begun to scratch the

surface only to realize how muchmore needs to be accomplished.The foundation continues to getrequests daily from otherorganizations, researchers, doctors,patients and members for more andmore information, support andfunding.

The UMDF continues itscommitment of supportinginformation technology to assist usin better addressing the needs ofour membership as well as thenational office. Trustee MartyLyman was recently appointed asthe chair for a new InformationTechnology Steering Committee sothat we can ensure that we wiselyinvest our limited resources into thetechnology needed for the future.

The board has also created aGovernmental Affairs Committee,chaired by Rick Leach, aprofessional political consultant,who lives and works nearWashington, D.C.

The UMDF board has approveda major reorganization of theScientific Advisory Board,expanding its scope andresponsibilities. The chairman ofthe newly named Scientific &Medical Advisory Board will nowhave a seat on the board of UMDF.

Michelle Lawler (see page 18)has joined the UMDF team asdirector of development and JohnEliyas recently started as our newdirector of member services.

The foundation has continued tosearch for the right people to leadthe UMDF to the next levelnecessary to support the continuedgrowing needs of the organizationand its partners.

Board of TrusteesJohn A. DiCecco - Chairman

Stanley Davis - Vice ChairmanW. Dan Wright - TreasurerSharon Shaw - Secretary

Bruce H. Cohen, M.D.Gerald A. Cook, Esq.

Charles L. Hoppel, M.D.Richard W. Kubach, Jr.Pamela Johnson, MD

Marty LymanRobert PolskyJoseph Rice

CEO/Executive DirectorCharles A. Mohan, Jr.

Chair Emeritus

Scientific Advisory BoardMichael J. Bennett, Ph.D., FRCPath,

DABCCGerard T. Berry, M.D.

Richard G. Boles, M.D.Salvatore DiMauro, M.D.

Annette Feigenbaum, M.D.,MBChB,FRCPC

Carol Greene, M.D.Andrea Gropman, M.D.

Richard H. Haas, M.B., B.Chir.Douglas S. Kerr, M.D., Ph.D.Arnold Munnich, M.D., Ph.D.

Robert K. Naviaux, M.D., Ph.D.David Nicholls, Ph.D.

William Nyhan, M.D., Ph.D.Brian Robinson, Ph.D.

Russell P. Saneto, D.O., Ph.D.Eric Schon, Ph.D.

John Shoffner, M.D.Eric A. Shoubridge, Ph.D.

Keshav Singh, Ph.D.Jan Smeitink, M.D., Ph.D.

David Thorburn, Ph.D.D.M. Turnbull, M.D., Ph.D.

Rajiv R. Varma, M.D.Georgirene Vladutiu, Ph.D.Douglas C. Wallace, Ph.D.Kendall B. Wallace, Ph.D.

David Whiteman, M.D.

UMDF MISSIONTo promote research and education

for the diagnosis, treatment andcure of mitochondrial disorders

and to provide support to affectedindividuals and families.

Newsletter EditorKara [email protected]

Continued on page 4

10th Anniversary Celebrations Raised more than $51,000


To best address the growingneeds of UMDF and its sense ofurgency, the UMDF board ofdirectors has made a significantchange in the leadership of thefoundation. Effective July 10,2006, the board of directors hashired Charles A. Mohan, Jr. as thenew full time chief executiveofficer/ executive director. As theUMDF's new CEO/ED, Chuckbrings to the position the qualitieswe all look for in a leader. He hasprovided the vision for thefoundation in a volunteer capacityover the last ten years and has donean excellent job.

With Chuck as a full-timemember of our staff, we believethat the foundation will bepositioned to aggressively grow andachieve the quantum leaps inprogress we all expect. We need toexpand our resource base,membership, and scientific andmedical partner base � generatingthe needed resources to allow thefoundation to expand itseducational programs and researchgrants and to move into clinicalgrant funding � all of which willget us closer to better treatmentsand cures.

Thank you for your continuedsupport of the mission.

Toward A Cure,

John A. DiCeccoChair, UMDF Board of Trustees

Chairman�s Message Cont

Remembering All the Sparks that Lit the UMDF FireAs part of our 10th Anniversary, a commemorative book was distributed

during the Atlanta conference, and the following is an excerpt from thattribute:

Ten years ago, several volunteer parent groups were the "sparks" instarting a small fire, coming together for a common cause - to promoteresearch for cures and treatments of mitochondrial disease and to providesupport to affected families (the original mission). The National Leigh'sDisease Foundation (NLDF), PALS (People Affected by Leigh's Syndrome)and the COX Foundation were among those groups.

The fire has gathered strengthover the years and we honor ourfirst board of trustees on this 10thanniversary - for each and everyone of them played a part in ourprogress. Special thanks go toMarsha Barnett, Mark Fleming,Sherri Greenlee, Chuck Mohan,Lee Neff, Kathryn Parsons,Catherine Higginbotham, Lauren

Johnson, Kathy Malone, Tammy Monson, and Nick Rillo. CharlesWilbanks, although not a UMDF board member, was the original founderof NLDF. His work in those early years was another "spark."

We cannot thank or acknowledge all of the extraordinary people whohave fueled, and continue to fuel, the fire in our quest toward cures andbetter treatments. We salute you all - thank you!

�I have no magicformula. The only way I

know to win is through hardwork.�

- Don Shula

Dr. & Mrs. Bruce Cohen, with daughterEva, and Chuck & Adrienne Mohanattend Pittsburgh event in April to

honor the 10th Anniversary

Kathryn Parsons, pictured withTrustee Stan Davis in 2002, was

presented a special plaque(Honorary Trustee Emeritus)

during the 2006 AtlantaConference�s Friday Banquet tohonor her years of dedication to

the UMDF Mission.

Ohio Chapter members presentletters and a plaque during a

special tribute to Chuck Mohan �UMDF�s first chairman.

Continued from page 3

Upcoming Events:� September 23-34 - Going the Extra Mile for Josey(Joseph Hendley) is a 24-hour Ultra Run! For more info,contact Tammy Vance at 404-518-1086.

� Sunday, October 8, 2006 - First Annual Ty�s TrotToward a Cure 5K Run/Walk at Georgia Tech campus.For more information, call 404-885-4882, [email protected] or visit www.tystrot.com.

� Monday, October 23, 2006 - 3rd Annual Fore-A-CureGolf Tournament at Standard Club in Duluth, GA. Formore info, please contact Chris Swinn at 404-817-0999or visit www.foreacuremito.org.

Special Events - Thank YOU!� June 2006 - In honor ofJoshua Sellers and as aresult of the GriffinJudicial Court GolfOuting, District AttorneyScott Ballard presented acheck for $1,270 � theSellers and SwinnFamilies accepted thecheck on behalf of UMDF. Excellent!!

� July 2006 - Blue Devil Blue Ball Classic raised $1,000in honor of Spencer Fike. Thank you!

� September 16 - Inhonor of Ty Seldes,Saint AndrewRowing Clubhosted a Row forMito at RiversidePark, Roswell, GA.The event raised$5,830.06! PerTyler�s AuntAmber (pictured with Tyler below right), �the kids reallyworked hard and it was a beautiful day in the park.� Tosee more pictures of this unique event, visitwww.standrewrowing.com.


Chapter ActivitiesATLANTA AREA CHAPTERAtlanta, GA

President: Chris SwinnPhone: 770-270-5337Email: [email protected]

Want to Get Involved?!Contact your local chapter or group today. Chapters and Groups will continue to grow with your HELP.

YOU can make a difference.For activity/info for Southern California, New York Metro, and Arizona Chapters,

email [email protected], [email protected], or [email protected].

2nd Annual Race for Riley was a HUGE success and raised more than $90,000 withhundreds of people in attendance to benefit UMDF Atlanta Chapter. You are awesome,

Riley Peek, and so are your family and friends!

Chapter Activities

Race for Riley � A Success!


DELAWARE VALLEY CHAPTERPhiladelphia, PA

President: Maripat ShellyPhone: 215-256-0273Email: [email protected]

Chapter Activities

Another Successful Brew! 7th Annual Go! for MitoAttracts Hundreds

This annual Delaware ValleyChapter event, chaired by the

Shelly Family, once againattracted hundreds of

participants to the PhiladelphiaArt Museum. Special thanks to

students from VillanovaUniversity for joining UMDF

families and friends �providing a vision of hope forthousands of families acrossPennsylvania and the United

States. To date, the eventraised more than $25,000.

The 3rd Annual Brew at the Zoowas a great success with over1,200 participants in attendance.Local beer aficionados, breweries andfriends of UMDF came out to theElmwood Park Zoo in Norristown, PA,on a hot July evening to sample someof the best brews in the area.Organizers Bob and Lisa Polsky did agreat job and look forward to an evenbigger event in 2007.

NEW ENGLAND CHAPTERBoston, MA

President: Bridget WillisEmail: [email protected]

Upcoming Events� Join the New England UMDF Chapter as they begin aWeekend of Hope and celebration on Saturday, October 7,for the Plymouth 5K Walk and Family Fun Zone activities.Registration begins at 9:30 a.m. with the 5K walk at 11:00a.m. and family fun activities rounding out the afternoon.Family Fun Zone events include professionalstorytelling/puppet shows, magic shows, pony and trainrides, music, face painting, moonwalk, refreshments andfree child ID screening provided by the Plymouth CountySheriff's Office. Individuals raising $500 or more willreceive a UMDF sweatshirt. For more information, go towww.mitowhat.org or call 508-224-7165.

� The New England UMDF Chapter will complete theWeekend of Hope and celebrate on Sunday, October 8, withthe 7th Annual Longmeadow 5K Walk and Family Fun day.Registration begins at 9:30 a.m. with the 5K walk at 11:00a.m. and family fun activities rounding out the day. FamilyFun activities include popcorn, balloons, clowns, raffle,LEGO building area, music and much more. For info onthe Longmeadow event, call 413-872-7538.

Special Thanks� Life Labs-Mercy Hospital, Springfield, MA, held a Jeansfor Cause every Friday for a dress down day. $215 was

donated to UMDF in honorof Emily Tyler. GrandmaGail Gebeau works at LifeLabs � Thanks, Grandma!

� During a special yard saleand silent auction, morethan $2,900 was raised inhonor of Owen Willis.

1st Annual Golf Outing Raises $16,000� The UMDFNew EnglandChapter heldtheir 1st AnnualGolf Outing onSaturday, May20, at EastonCountry Club inSouth Easton,MA. The fieldwas full of

golfers and a fantastic auction was held forparticipants. Fun was had by all! Thanks to BillNaughton (pictured above with his team) fororganizing a very successful event. Outstanding Job!!!

Special Thanks

� In memory of Kevin Blosky, JenniferCogan ran the Mayor's Marathon inAnchorage, AK, and raised $1,565.The lower 48 deeply appreciates yourwork, Jennifer!

� The 3rd Annual Family SpaghettiDinner was held on April 29 atPilgrim Lutheran Brethren Churchin Mentor, OH, in honor of Sadieand Maiya Keeney and raised morethan $3,000. Thank you, Arnoldand Keeney Families and Friends!


Chapter Activities

Special Thanks -

� Jake Gold of Pittsburgh, PA, soldenergy bands for his Bar Mitzvah inhonor of his cousin Mollie Kalkfrom Cleveland, OH, and raised$200. Thanks, Jake!

� In honor of his brother, Kyle,Student Council Treasurer NickKobunski initiated �Dress DownDays� at St. Albert the Great Schoolin North Royalton, OH, thispast spring and raised $2,000.Excellent!

� A fun-filled evening was had by allat the 3rd Annual Guest BartenderNight on Friday, March 10. Theevent was held at the Main StreetGrill & Pub in North Royalton, OH,in honor of Kyle Kobunski. Thedynamic duo of Anita Barker andDiane Kobunski were the guestbartenders filling drink orders,having fun and raising $5,430 forUMDF!

OHIO CHAPTERCleveland, OHPresident: Bill HodgesPhone: 440-235-2451 Email: [email protected]

The 5th Annual UMDF One StepCloser to a Cure event was a great

success. A special thanks to ourpresenting sponsor, KFC; Lisa Arnold,

Race Chair; and the many families,sponsors, donors and volunteers who

helped make this event possible.

Upcoming Events

� Saturday October 14, 2006 -- 2ndAnnual Clams for a Cure, 7:00 p.m.at Hoggy's Restaurant, 5975 CanalRoad, Valley View, OH. For tickets,reservations, and/or questions, contactDaryn Adelstein at 440-349-5889 [email protected], or Amy Kalkat 440-498-9142 [email protected].

KANSAS CITY CHAPTERKansas City, MO

President: Pam JohnsonPhone: 913-631-3070Email: [email protected]

3rd Annual �Mito-What?� 5K Race/Walk One Step Closerto a Cure � Families and friends across Kansas and

Missouri came together on June 24 to raise an astounding$47,000 for the Kansas City Chapter. More than 500

runners and walkers were registered, joining more than1,000 adults and children for a day of hope. Thank you to

everyone who made the event a success!

Chapter Activities

More than $130,000 Raised for the Foundation

THANK YOU RYAN PONTBRIANDCleveland Browns Long

Snapper, Ryan Pontbriand,signed autographs and was a

big hit with the crowd!!!

Three years ago, BobThomas, Indiana

Chapter vice president,started the Miles forMito ride. This year,

he and the othercourageous riders

illustrated their love and dedication to the childrenand adults battling mitochondrial disease by

bicycling from Indianapolis, IN, to Atlanta, GA, toattend this year's UMDF symposium, Mastering theMitochondrial Maze. See page 20 for more details

on this inspiring event.


� In honor of his brother, Charlie,William Darche (with mom�s, Tracy,help) held a Coins for a CureCampaign in his kindergarten class atGeorge F. Cassell Elementary Schooland raised $1616.09 for UMDF.Super job, kids!!!

Events/Fundraisers:� Special Thanks - Inhonor of Ellie Bube�sbrother, Jacob, threeenterprising young girlsraise money for UMDF.Madeline Cole, EllieBube and Natalie Wiesinger raised $50 by selling icecold drinks to their neighbors.

� Led by Mike Hanlon, chapter members hosted anothervery successful UMDF golf outing on July 10 atHawthorns Golf & Country Club in Fischer, IN. Theevent raised $9,472.

� Pack the House - The chapter, in conjunction with 24Penn Station stores promoted the Pack the House Nighton February 25 and raised more than $10,000 for UMDF.

� President Robert Vruggink of Praxair SurfaceTechnologies presented Jacob and Sue Ann Bube with a

check for $2,500. Praxairheld a silent auction for fourBrickyard ticket packagesand all proceeds weredonated to UMDF.

INDIANA CHAPTERIndianapolis, IN

President: Sue Ann BubePhone: 317-894-9099Email: [email protected]

Chapter Activities

CHICAGO AREA CHAPTERChicago, IL

President: Patrick KelleyEmail: [email protected]

!UMDF�S NEWEST STARS!!

Chicago Officially Becomes a Chapter!Please join us in welcoming our newest chapter and their officers:Patrick Kelley - President; Cheryl Lawson - Vice President; Vicki

Ternberg - Treasurer; and Mary Beth Kelley - Secretary

Thank YOUMiles for Mito Riders

6th Annual Kites for KristenDecorate the Walls and Raise

more than $15,000Kites for Kristen Charleston was

another success this past May.More than $15,000 was raised tobenefit UMDF. Gianna Fodelka,

who just graduated fromKindergarten, held a lemonade

stand and dedicated her earnings,$23.25, to the Kites for Kristen

event. Thanks, kids andCharleston Family for another

job well done!

From right to left: Patrick Kelley, ZazaKhuchua, PhD (UMDF grant

recipient), Gail Wehling and UMDFchair, John DiCecco pose during

Atlanta Friday night banquet.

On July 17, UMDF Trustee Stan Davis was honoredduring the 7th Annual Ohio UMDF Golf Outing atKirtland CC in Willoughby, OH. After seven years andmore than $600,000 raised to benefit UMDF, Stan decidedto take a break from the golf outing that has proven sosuccessful over the years � and he thanks his family,friends and specifically his daughter Jill for assisting withthese successes.

During a very special tribute, Stan�s granddaughters,Carly and Katie, gave the following heartwarming speechto the golf outing attendees:

Carly:�Having amitochondrialdisease can bevery hard attimes. But Iknow that themoney Papa andMommy (Jill)have raised with

your support is going to make it easier for me and otherslike me. For those of you who do not know me well,mitochondrial disease does not allow me to go outside

when it is above 80 degrees unless I can be in a pool tostay cool, or below freezing where I can stay warm. It alsocan make it hard for me to get better as fast as otherpeople when I get sick. And a lot of times I am tired.

Katie: �Sometimes it is very hard to have a sister thathas mitochondrial disease. It can be really hard becauseshe needs so much help from all of us and sometimes I donot know how to help her. And sometimes I thinkMommy and Daddy have to spend more time with Carly.But as a family we are learning together.�

Together: �Papa and Mommy have shown us that ifyou work hard and look to people like all of you to openyour hearts we can make a difference. We love you bothand thank you all.�

The patients andfamilies of UMDF agreewith your granddaughters,Stan. You are one in amillion, and we�re sureyour fundraising days arefar from over! ThankYou!!!


liaison and for your continued dedication to the UMDFmission.

Pam Johnson, MD, of LakeQuivira, KS, accepted the liaisonposition in June and has had theresponsibility of Kansas City ChapterPresident since 2005 -- even thoughher disease symptoms cause her to tireoften. She willingly organized andreorganized the chapter to bring backkey members to the board and workshard to motivate and support the KC Chapter board as wellas striving to meet the needs of the families that call her.Pam is a pediatrician but can no longer practice because ofher mitochondrial disease. Instead of being discouraged bywhat she can no longer do, Pam channels her energy andknowledge to help parents and other adults. Pam and herhusband, Brian, work together on the KC run/walk and golfouting.

The board has recently extended the term of office forchapter liaisons � Pam will now serve on the board for twoyears. Welcome to the board, Pam!

To keep UMDF members connected to our boardvolunteers, we will �spotlight� our trustees from time totime in the Mitochondrial News. In this issue, we willspotlight our Chapter Liaison position on the board.

First, what is a Chapter Liaison? The UMDF Boardrealized many years ago that the chapters were one ofthe life lines to the success of the foundation anddecided to add a position to the board for chapterrepresentation. Our first chapter liaison was JenniferLyman, then Sharon Shaw, Maripat Shelly and mostrecently Mary Pisani. In June 2006, Pam Johnsonbecame our newest liaison. We will spotlight our pasttwo liaisons in this issue.

Mary Pisani, of North Haven,CT, was appointed to the UMDFBoard in 2004 as the liaison. Sheserves as the vice president of theNew York Metro Chapter ofUMDF and has successfullyorganized a Walk to CreateAwareness over the past few years.

Mrs. Pisani and her husband, Matt, have two children,Nicholas (diagnosed with mitochondrial disease in2001) and Andrew. Thank you, Mary, for serving as

Spotlight - UMDF Board Members

If you would like bios on other UMDF board members or staff, please visit www.umdf.org(http://www.umdf.org/about_umdf/generalinfo.aspx).

Trustee Stan Davis Honored During Annual OutingFor Carly & Katie Platt, Papa Stan is Quite the Hero


Mito Adults Corner - by Karen Ortiz

Mito and Depression Can Walk Hand and Hand

When I was first told that the ill effects that I wasexperiencing were due to depression, I wanted tolaugh the physician right out of the room. In fact, Ido believe my response was: "Of course I amdepressed. I am the mother of an infant that no oneknows just what is wrong with. She is not growingwell, pukes up everything I put into her, and does notbreathe on her own when she falls asleep, and Ihaven't slept in the four months since her birthbecause she screams non-stop for hours at night,every night!" I remember my thoughts being, "I ampaying this man to tell me this!" I blew off what thedoctor had to say and headed for home even moredepressed, thinking that the person who was supposedto know how to help me was totally clueless andinstead dismissed my daughter's problems as my own"mental illness." So in my head, I was not only bone-weary tired, but now I was "crazy" too? I was soangry. After all, who wouldn't be half crazy doingwhat I was doing?

The months ticked on, and my child seemed to getonly worse, with the amount of sleepless hours onlygrowing. As she got worse, so did my "depression."I felt very alone and very misunderstood by family,

mitochondrial, autosomal recessive metabolicdisorders (our "ARMD" group). Furthermore,questionnaires were filled out on paper during a clinicvisit, instead of over the internet. Despite thedifferences, both studies were similar in that we askedabout mental health in the relatives of families that wethink have maternally inherited mitochondrial disease,as well as in a "control" group of families we think donot have MIMD.

Our data supports our finding in the first study inthat there are significantly more mental healthconditions diagnosed among the matrilineal relativesof families with maternally inherited mitochondrialdisease (MIMD) than in the corresponding matrilinealrelatives of our control group (ARMD, with non-mitochondrial genetics disorders). Depressiondominated the mental health conditions reported andwas found equally among the relatives of patients whoare mildly or severely affected with mitochondrialdisease.

Editor�s Note: Special thanks to Dr. Boles forsharing his findings. The UMDF�s intent is to keepyou informed and since the project�s data wascollected through the UMDF web site, we werepleased to provide the results. As always, we ask thatyou continue to discuss any diagnoses, treatments ormedications with your personal physician.

Table 1. Results of Questionnaire for Mothers of Children with Genetic Metabolic Disease

MIMD ARMD P-value*Mothers Mothers

Mother ever diagnosed with a mental health 6/15 2/17 0.08condition by a health care professionalMother diagnosed with or suspects that she 10/15 2/17 0.001may have a mental health conditiona

Current psychotropic usage in motherb 4/15 2/17 0.3Any mental health disorder in first-degree 8/15 1/17 0.004matrilineal relativesAny mental health disorder in patient 5/15 0/17 0.01Any mental health disorder in sibling 5/15 1/17 0.06Any mental health disorder in at least one 5/15 0/17 0.01second degree matrilineal relativeAny mental disorder in at least one 13/15 3/17 0.0001

* Green numbers indicate probability (P) values that are considered to be significant, P is less than 0.05a Four additional MIMD and no ARMD mothers indicated that they �suspect� that they �have a mental health condition notyet diagnosed by a healthcare professional.�b Dominated by serotonin selective reuptake inhibitor (SSRI) anti-depressant medications

Depression and Anxiety in Mitochondrial DiseaseContinued from page 1



friends and the doctors who weresupposed to be there to help me. Isuffered a miscarriage of twinboys, which only added to mydepression at the time, but I stillwas not willing to acknowledgethat it was depression that I wasexperiencing. Then, my secondchild was born. He also beganhaving signs that he too was not"normal." However, whenever Isaid anything, I was told by mydaughter's physicians, "Now,Mom, just because she is sickdoesn't mean he is sick as well.Just relax!" I was so frustrated thatI couldn't get anyone to listen. Itwas during one of my daughter'svisits with Dr. Boles at ChildrensHospital Los Angeles that my sonhad an "unexplained fit of rage" infront of him that he realized thatmaybe he had a problem as well. Iwas so angry because I had beentrying to get someone to listen tome, and the response was far lessthan favorable. After Dr. Bolesand his nurse were able to calm medown, Dr. Boles suggested to methat maybe I was in fact dealingwith depression and that it mightnot hurt seeking some professionaladvice. I can remember being hurtby his comments, not able to fullyunderstand what he was saying dueto being overwhelmed by mycircumstances, and to be honest,thinking that he was the one thatneeded professional advice! Afterall, I was the parent doing all of thework with not only one sick childbut two. I also had my ownmedical problems to deal with. Idid not feel that I was depressed; Ifelt abused by a medical systemthat refused to listen and help me.

About this time, my sister wasexperiencing a severe bout ofdepression after giving birth. Wecouldn't figure out why she washaving such difficulty, as she hadnot experienced this problem afterher first two pregnancies. By then,

we knew that my two children hadmitochondrial disease but didn'tknow the extent of the familialinheritance. Her depression seemedto get better, but to this day she stilldeals with bouts of "unexplained"depression. Later, she would beplaced on Celexa (a commonantidepressant medication), as washer daughter at age 15. My motheralso experienced severe bouts ofdepression, but it was alwayschalked off to a tired mother raisingfour kids, not to a true physicalproblem.

As time went on, I began to see aprofessional to try and deal with myown depression and the stress ofdealing with two sick children.During this time, my third childwas born premature, and once againwhen I noticed that she wasn't"normal" in some areas, I waspatted on the head and told not toworry. This led to my depressionreturning even worse than it hadbeen before. But by this time, Idiscovered that my depression didnot put me in bed for weeks lyingin a dark room with the covers overmy head wanting to die. Instead,depression made me extremelyirritable and put me in a constantfight or flight pattern. While insome cases this worked for the kids'benefit as I fought hard and longfor their care, I believe that this isone of the reasons that I didn'tbelieve that I was depressed earlier.I began to explore with Dr. Boleswhether taking the drug Celexawould be safe for me and my oldestdaughter. She was now beginningto show some signs of depression,although her signs were verydifferent than my own. Like hercousin, and without any apparentphysical reason, my daughter didnot want to get out of bed.

We sought help from Dr. Bolesand her counselor, and she wasstarted on Celexa. Thereafter, wesaw a marked improvement in her

emotional well-being.Unfortunately, a year later shebecame extremely depressed,sleeping for up to 20 hours in aday and withdrawing from life.Because she did not make anattempt at that time to harmherself, although we all had goodreason to believe that she mighttry, she could not be admitted forhelp. We were told to take herhome and watch her 24/7 until itpassed. This was one of the mostfrightening times of my life. Wefound out that she had not beentaking her Celexa regularly, andonce she was restarted on it, sheimproved greatly and has not hada return of her depression in thetwo years since. Her emotionalwell-being is now very much likethat of any teenaged girl. I, too,have noticed a markedimprovement in myself sincestarting on Celexa.

When Dr. Boles first suggestedthat I might be depressed, aswhen another physician told methat many years before, I was notemotionally able to accept whatwas said. All I heard was thatthis man thinks that I am crazy,and all I could think was that hewas crazy thinking that anybodycould handle what I was beingasked to handle without being alittle bit depressed. It took mesome time to be able to processwhat he truly was saying: that mydepression was real for thecircumstances that I wasexperiencing, however, it was alsoreal because of the physical-medical issue of being amitochondrial patient. In otherwords, having a mitochondrialdisease was making me moresusceptible to depression.Anyone in my situation could bedepressed, but my ownmitochondrial disease upped my

Mito Adults Corner - Mito and Depression Can Walk Hand and HandContinued from page 10



� Sunday, October 1, 2006 - The 6th Annual Olivia LaurenSteele Memorial Golf Outing will be held at RoyalAmerican Links in Sunbury, OH. A contribution of $300includes entry fees and dinner for two golfers and a tee orgreen sponsorship. For more information, contact J.R.Steele at 614-846-4149.

� Monday, October 2, 2006 - Please join Kovalcik &Geraghty Wealth Partners LLP in Columbus, OH, for the1st Annual KGWP Charity Golf Outing in honor of EllieKovalcik at the Scioto Reserve Golf & Athletic Club. Formore information, contact Lorrie Stickel at 614-222-4888 [email protected].

� Saturday, October 7, 2006 - The Idaho Mito Group ishosting a UMDF Bowl-a-thon at Nampa Lanes. For moreinformation, contact Jennifer Pfefferle at 208-863-9403 oremail [email protected].

� Saturday, October 7, 2006 - MPS and Mito 5K Walk/Runto support UMDF at Thomas Lake Park in Eagan, MN. Formore information, contact Kristin at 952-212-9975 or [email protected].

� Saturday, October 7, 2006 - Friends of Bobby Arnold, ofOhio, will run in the University of Miami Delta GammaRace in Miami, FL. For more information, contact KellyPierce at [email protected].

� Saturday, October 7, 2006 - Join the New England UMDFChapter for the Plymouth 5K Walk and Family Fun Zoneactivities. For more information, go to www.mitowhat.orgor call 508-224-7165.

� Sunday, October 8, 2006 - The New England UMDFChapter will complete the Weekend of Hope with the 7thAnnual Longmeadow 5K Walk and Family Fun day. Forinfo on the Longmeadow event, call 413-872-7538.� Sunday, October 8, 2006 - First Annual Ty�s Trot Toward aCure 5K Run/Walk at Georgia Tech Campus. For moreinformation, call 404-885-4882, email [email protected] orvisit www.tystrot.com.

� Saturday October 14, 2006 - 2nd Annual Clams for aCure at Hoggy's Restaurant. For tickets, reservations, and/orquestions, contact Daryn Adelstein at 440-349-5889 [email protected], or Amy Kalk at 440-498-9142 [email protected].

� Monday, October 23, 2006 - 3rd Annual Fore-A-Cure GolfTournament at Standard Club in Duluth, GA. For moreinfo, please contact Chris Swinn at 404-817-0999 or visitwww.foreacuremito.org.

� Sunday, October 29, 2006 - UMDF Steps to a Cure(Walk) in Honor of Brittany Wilkinson at WoodwardPark, Fresno, CA. For more info call 559-299-1767 oremail [email protected]

� Friday, November 3, 2006 - An Enchanted Evening ofMagic, Martini�s and Music. In honor of Mary RoseZuzzolo, this event will be hosted by the StrathmoreVanderbilt Women�s Club in Manhasset, NY. For moreinformation, call 516-627-2433.

� Saturday, March 10, 2007 - 4th Annual Bet on BayleeCasino Night in Zanesville, OH. For more information,contact Jody Thompson at 740-982-1244.

� Friday and Saturday, March 9-10, 2007 - TheWriters at the Beach: Pure Sea Glass 3rd AnnualWriters Conference, held in Dewey Beach, is sponsoredby the Rehoboth Beach Writers� Guild, a non-stock,non-profit organization incorporated in the state ofDelaware. 100% of net profit from this annualconference is donated to the United MitochondrialDisease Foundation. For more information, visitwww.writersatthebeach.com.

"" Mark your Calendars ""See pages 5-8 for more details on chapter events

There is an easy way toraise money for mitochondrialdisease research. The answer is

Coins for a Cure. It�s an easy way tomake a difference in the world, one coinat a time. All you need is a few coincollection containers and some willingparticipants. Simply approach your schools orlocal business owners you may know and askfor their approval to hold a Coins for a Curecampaign for UMDF. Then set out thecontainers and let the fun begin! When thecampaign is completed, collect the containers,count your coins, and rest assured that youhave made a difference in the lives ofthousands of affected children and adults!

For more information on how to start acampaign in your community, [email protected] or call 412-793-8077.

Coins for a CureCampaigns


Fundraisers

� The 3rd Annual Curl-o-Rama, held in honor of PeterLubelczyk (pictured right withJared Goldstein) raised$7,327. Sponsored byChesapeake Physical andAquatic Therapy, this year�sannual event attracted 95participants in Laurel, MD,and included a curlingtournament, a silent auctionand a visit from the BowieBaysox Mascott. Thanks toall who participated and keep on curling for a CURE!

� Preston's March for Energy � once again the lonelyleprechaun ran 26.2 miles to raise money andawareness for mitochondrial disease. Amy and JerryFrostick, organizersof the ShamrockSportsfest Marathonin Virginia Beach,VA, encouragedparticipants to raisefunds for the UMDFin honor of PrestonBuenaga (picturedright). Through the outstanding efforts of Deb andSteve Buenaga of Wilmington, DE, this annual eventraised $20,353 this spring. For more informationabout this annual marathon, please visitwww.shamrockmarathon.com/preston-march.php.Thank you Shamrock Community!!!!

Gifts from the Heart - Thank You ALL

During the Atlanta conference, the winners of the Vacation Towarda Cure were pulled and congratulations go to:

Thank you to the UMDF Chapter Members, MitoGroups, Ambassadors and Volunteers who soldtickets for the 2006 Vacation Toward a Cure

campaign. Over $36,000 was raised this year for the UMDF. Specialthanks go to the Cincinnati Mito Group (Jeff & Cindy Salt) and the ChicagoUMDF Chapter (Patrick Kelley) for selling close to $15,000 in tickets each.Both groups will be awarded $1,000 Symposium Scholarships for the 2007conference in San Diego, CA.

Thank you also to American Airlines and the Catamaran Resort Hotel,San Diego, CA, for donating prizes for the raffle. We look forward tohosting another successful Vacation Toward a Cure raffle next year!

If you have an event announcement or anidea for an article for the MitochondrialNews, please email [email protected]. We

want to hear from YOU!

For information on starting a fundraiser inyour area, email [email protected].

Vacation Toward a Cure Winners

Exclusive Airline of the Vacation Toward

a Cure Raffle

! First Prize: Todd Crocker of Dacula, GA

! Second Prize: Frank Kaduc of Rochester, NY

! Third Prize: Nancy Goedecke of Birmingham, AL

The 1st Annual Caroline's on MyMind Weekend was held onMarch 24-25. The weekend

started with a Golf Tournamentat the Carolina Country Cluband ended with a 5K Family

Walk/Run at Duncan Park with aBBQ/Band Party in the evening.

All proceeds benefit theCaroline Virginia Pulliam

Mitochondrial Disease Fund(CVPMDF) and UMDF. Excellent!

Caroline Pulliam cuddles withmom, Donna, during the

evening festivities.

1st Annual Caroline�s onMy Mind Raises $20,000

UMDF Holiday Card Campaign Annual mailing will be arriving in

mailboxes in November. For moreinformation, email [email protected].


� St Bernadette's Annual Coins for aCure campaign in Monroeville,PA, raised $1,122 in memory ofGina Marie Mohan.

� In a Coin War, Butler MiddleSchool 7th and 8th graders inWaukesha, WI, raised $1,500 inhonor of the Juhlmann family.

� Hosted by mito teenager BrittanyWilkinson of Fresno, CA, theBreak the Barriers Dinner andGolf Outing weekend raised morethan $10,000. Way to go, Brittany(pictured below center)!

� Minnechaug Regional HighSchool in Wilbraham, MA, raised$2,350 with a themed gift basketraffle. Outstanding!

� Council Rock School District inNewtown, Bucks County, PA,raised $280 with their CasualDays for a Cause.

� Clemson Elementary School(CES) students sold Chick-Fil-Acalendars for a service learningproject. $278 was raised in honorof Alex Newton by his olderbrother, Russell, and his 3rd gradeclass at CES. Participating classesincluded Mr. Hooker�s, Mrs.Richardson�s, Mrs. McDowell�s,Mrs. Moore�s and Mrs.Ellenburg�s classes.

FundraisersPeter Max, raised $3,020 inmemory of R.J. Victor in Naples,FL.

� The Writers at the Beach: PureSea Glass Annual WritersConference, sponsored by theRehoboth Beach Writers' Guild,raised $10,000 in memory of SamJuhlmann and in honor of theentire Juhlmann family. The 2006workshop, held in Dewey Beach,DE, attracted nearly two dozenauthors, editors and agents for thisunique charitable event, and over175 participants attended. Formore information about theconference, go towww.writersatthebeach.com.

� The St. Louis Mito Group held the3rd Annual Family Fun Day and"Mito What?" 5K Run, Fun Walkand Kids' Run at the Shrine of OurLady of the Snows in Belleville,IL, and raised over $12,000 thisspring. Activities included kids'entertainment, face painting,refreshments and prizes! Specialthanks to Marsha Hohe for herefforts again this year.

� Jary and Kristy Carter and theirfriends hit the slopes in Marchat the Sundance Resort in Utahfor a Ski Day for UMDF toraise money for the Charlie

and Louisa Sido Tanner ResearchFund. Participating skierscollected pledges per run and agood time was had by all skiingfor UMDF! To date, theUMDF/Sido Research Fund eventshave raised more than $58,000!Excellent!

� �A�s for Charlie & Louisa raised$902 for UMDF. Craig Leslie hasmade this event an annual one inmemory of Charlie and LouisaSido.

� St. Thomas Aquinas School(3rd grade class) - IsabelTaylor and her friends organized abake sale at St. Thomas AquinasSchool in Michigan and raised$209.07 for UMDF in honor ofher brother Simon.

� The 2nd Annual Walk/Run to WipeOut Mitochondrial Disease, heldat Merrill Crest Park/BethesdaElementary in Waukesha, WI,raised $11,400 in memory of SamJuhlmann, a beloved Bethesdastudent who lost his battle withmitochondrial disease on March 3,2005. Outstanding work, kids!

More Spring and SummerFundraising Events

� In May, Carolyn's Cabaret featuredThe Three Altos, ElizabethMacaulay, The Rosewood StringBand and John McLoughlin inDuluth, MN, and raised $5,641 tobenefit UMDF and raiseawareness of MELAS in memoryof Carolyn Russell.

� The Hefferon family�s annualMito-What? Post-Holiday GiftRecycling Party raised $6,342.50in honor of David Hefferon �excellent job, Elizabeth!

� A Meet the Artist Art show,featuring a collection of recentworks from world-renowned artist

Youth in ACTION AgainstMito -- 2006 Spr/Sum

raised $1,700. Thank you to JoeHaver and the Corvette cruisersof Western PA!

� The Gibson's 13th AnnualPotluck/Barbecue, held in June inUkiah, CA, honored the memoryof Heidi Daniels. Over the years,more than $25,000 has beenraised through this event for theUnited Mitochondrial DiseaseFoundation � with $3,875 in2006. Excellent!!!

� 4th Annual UMDF PittsburghRun/Walk raised more than$32,000. Thank you to our localfamilies, sponsors andvolunteers for participatingand moving us One StepCloser to a Cure.


chances of suffering fromdepression. This does not meanthat I am crazy or that I can't handleit, but rather that a true physicalissue (mito) was contributingtoward my symptoms ofdepression. Once I understood this,I have to admit that I felt muchbetter. Although we all still fightthe ugly head of depression,knowing that it is not truly a"mental" illness seems to make usall feel a bit better. The stigma of amental illness is not a pleasantburden to deal with. Having thisgone is helpful to us in our dailybattle with mitochondrial disease.

I personally believe that there aremany �Mito Moms� who sufferfrom depression for two reasons �one because they are �Mito Moms�and the demands of a �Mito Mom�are incredible, and two becausethey are mito patients themselves.If you are suffering from depressionas a �Mito Mom� or as a mitopatient, get help. You don't have toworry that there is shame in yourdepression, and there is nevershame in seeking help. Also, knowthat depression takes on severalforms as I found out. For me, itwas extreme anger and frustration.For my child, it was not being ableto get out of bed. Depressionseems to be part of mitochondrialdisease, but you don't have to sufferfrom it.

Special Thanks to Karen Ortizfor sharing her experiences withour UMDF readers!

Mito Adults Corner -Mito and Depression CanWalk Hand and HandContinued from page 11

Mito Adults CornerCalling All Mito Adults: The Mitochondrial News Needs YOU!

Please consider submitting an article for review or sending us yourexperiences with a specific topic of interest. If you are willing to help,please email Kara Strittmatter at [email protected] or call 412-793-8077,ext. 114. We look forward to hearing from you!

Our next Adults Corner article titled Getting a BiPAP-A PersonalOdyssey, by Melissa Nixon, will be featured in the Fall issue.

� Krista Wakefield, of Sayre, PA,held the 2nd annual Mito-WhatPost Holiday Gift Recycling Partythis winter in memory of AnthonyWakefield and raised $800! Gift-giving at its best!

� The Kindbom Family 2nd AnnualWinetasting Party took place thispast spring in Medford, NJ. Theparty was held in honor of RachelKindbom and raised $39,900!

� The 1st Annual Race for Ellie washeld at Library Park in Powell,OH, in honor of Ellie Kovalcik inApril � the event raised $5,199.Outstanding!

� The 2nd Annual ChrisSchindler Memorial Cutting,held at the Washington CountyFairgrounds in Brenham, TX,raised $20,000 to benefitUMDF/Christopher SchindlerResearch Fund (event pictureabove).

� The Corvette Club of Western PAheld a cruise at Day Chevrolet inMonroeville, PA, this spring and

Fundraisers

Correction In the last issue, a donation of

$1,000 was from Larimore Wickettand Carlos Gutierrez

Thank you, gentleman!

cont.

Tip for Holiday ShoppingVisit www.toysrus.com and click on the

Toy Guide for Differently AbledChildren. This online guide provides a

user friendly and descriptive look attoys for special needs kids. Very cool

and helpful for those holiday gifts!

complex disease as mito. Dr.Parikh was able to give greatadvice in how to deal with thesesituations. Since the symposium,we now have a written letter fromour son's primary care physician -giving the doctors an idea of whatthey need to do. "Creating aMedical Home" by Anne Juhlmann,RN, BSN , was great. Theinformation she shared regardingher very own children was soimportant. She really made me takea very close look at our own home- a very eye opening presentation.There were so many importantpieces of information that wereshared this year that I could go onand on. Overall this was such apositive experience. The staff ofUMDF, as usual were extremelyhelpful, cheerful and veryknowledgeable. Thank you somuch for this opportunity.- The Young Family - Duane, Amy,

Tyler, BJ and Kaylin� It was really moving to see some of

the patients and their families. Ithink the UMDF is doing somereally inspirational work.- Vishal Gohil, PhD, Massachusetts(UMDF Grant Recipient - see page

1 for picture of Dr. Gohil)

medicine and current research. Thenetworking among the scientificattendees, patients and families wasquite refreshing. The 230 patientand parent attendees wereextremely pleased with theopportunity to meet so manyspecialists in the field ofmitochondrial medicine and tohave new information to face thenew challenges that mitochondrialdisease presents to them on a dailybasis. But don�t take our word forit � please note the followingcomments from our attendees andfaculty:

� I felt yesterday that this year inAtlanta, the UMDF meeting hadbecome a major scientific meetingfor mitochondrial diseases. It isturning out to be THE mito meetingfor patients, doctors and scientists.You have brought the scientificlevel to a hitherto unachieved level,and you need credit for that. Youridea to bring into the arenascientifics apparently remote fromour field was just brillant. Brillantorganization too ...you have got themaximum mark of 20/20.

-Arnold Munnich, MD� We met many families struggling

with Mito. The sessions wereawesome. The banquet was so

nicely done, with excellent food. Iwish everyone I knew could comeand be there and hear aboutmitochondrial diseases. If you or afamily member suffers from MITO,please, if at all possible, try tomake it to San Diego in June 2007for next year�s UMDF symposium.It is well worth it.

- EJ and Debbie Fogel, California

� The information provided wasphenomenal, and one thing I wastruly inspired by was thehumbleness and respect for theparents that all the physiciansseemed to convey during theirpresentations. This was my first experience at asymposium and I cannotrecommend it enough to otherfamilies. It was well worth my time-- the knowledge gained wasinspiring. It would have taken meweeks via the internet to gather theinfo that was presented in twodays.

- Kristi Cole, Georgia� This year's program was

incredible. Dr. Joanne Janas gavewonderful pointers for dealing withdoctors our family visits regularly.Dr. Shoffner did an outstanding jobof explaining the very complexworld of the mitochondria.Maribeth Fischer gave me anoutlet - gave great instruction onputting things in detail, writtendown - this has already helped us -I am able to sit and write thingsdown and have become moredescriptive so I can't forget thelittle things! Dr. Sumit Parikh'ssession was very informative. It isso difficult to enter into anemergency room with such a


Continued from Page 1

Mastering theMitochondrial Maze

Atlanta 2006

If you missed Atlanta 2006,audio CDs and syllabus

materials are available forpurchase. The order forms

can be found atwww.umdf.org, or you can

email [email protected].


Special Thanks to ourSponsors and Exhibitors

Power House LevelWarren and Kathy Lammert

Generator LevelTishcon Corporation

The Edith L. Trees Charitable TrustSupporting Level

March of DimesDominican Sisters/St. Mary of the

Springs Blessings FundThe Mitochondrion - Mitochondria

Research SocietyMitochondrial Research Guild(Children's Hospital Seattle)

Exhibitors:Tishcon CorporationAquatics by Sprint

MitoSciencesOlis, Inc.

TransgenomicVisiting Nurse Hospice Atlanta

Dr. Hemmi Bhagavan and RajChopra, of Tishcon (pictured above),and John Audette, of MitoSciences

(pictured below), provided attendeesinformation that could be used asthey journeyed through the Maze.

Thank you to all of our exhibitors fortheir continued support of the

mitochondrial meetings and UMDF!

We Need YOUR Help!If you or someone you know has

contacts or ideas for exhibitors andsponsors for the 2007 meeting, please

contact [email protected] or callMichelle at 412-793-8077.

In order to continue offering lower feesfor family attendees, we need help infinding sponsors and exhibitors � their

support helps us offset symposiumexpenses and pass on savings to YOU!

Did Attendees Master the Mitochondrial Maze?

Networking with families,researchers and physicians provideda welcomed light for the many dark

corners of the Maze.

Lectures provided empowerment toall those in attendance � for doctors,

patients and families. Did we�master� the maze? Maybe not, but

we continue to make progress!

Mark Your Calendar NOW for Mitochondrial Medicine 2007: Riding the Wave of the Future

Mission BaySan Diego, CA

Scientific MeetingsJune 13-16, 2007

Family MeetingsJune 15-16, 2007

The scientific and familyprogram planning is wellunderway. Committees

will review pastevaluations and build onthe successful sessions

from UMDF symposiaover the last five years.

Call for Abstracts forResearchers will open on

November 1, 2006 atwww.umdf.org.


Michelle M. Lawler Michelle M. Lawler

(Braden) joined the UnitedMitochondrial Disease

Foundation as Director ofDevelopment in May 2006.She comes to UMDF from

Children�s TumorFoundation where she ledthe New England office,

based in the Boston area.Locally, she has also

worked for Pittsburgh Voyager and Pittsburgh DanceCouncil. Michelle holds a BS in Journalism from Ohio

University. Welcome aboard, Michelle.

Development CornerLeaving A LegacyA planned gift to the United Mitochondrial DiseaseFoundation will ensure the future of our work to fightmitochondrial disease.

Planned gifts can include the following:� Wills or Bequests� Trusts - Charitable Lead Trust or Charitable

Remainder Trust� Charitable Gift Annuities� Real Estate� Life Insurance� Stocks/Mutual Funds� Donor Advised Funds

Giving can offer the following advantages toyou and your family:� Reduce estate taxes� Provide a lifetime income stream� Allow you to make a much larger gift than you

thought possible� Receive a current income tax deduction� Reduce or avoid capital gains tax� Support the important work of UMDF!

We highly recommend that you consult with your taxor legal advisor to obtain more detailed informationprior to making a planned gift. If you do not have anadvisor with whom you currently work, UMDF canoffer the services of the Montverde Group at nocharge. Please contact Michelle Lawler (pictureupper right), our director of development, if youwould like more information about this service. Aprofessional can help you determine the appropriategift level based on your circumstances, the type ofgift, the tax implications of your gift and how to beststructure the gift in order to benefit both you and theUMDF. While the foundation always welcomes cashgifts, our first concern is that the form your gift takesis in the best interest of you and your family. If you have already designated UMDF as abeneficiary for any of the above, please contact usto let us know of your generosity.

Response to OnlineSurvey OUTSTANDING!

The Development Office recently launched anonline survey to help UMDF better serve ourmembers and the mitochondrial community.To date, we have received more than 900

responses and they keep coming in.

If you have not completed the survey andwant to have a voice, please visit

www.umdf.org by November 1, 2006.

The survey allows respondents theopportunity to provide input in the following

areas:Membership Benefits

Support ServicesWeb Site

DevelopmentInformation Technology

and much more!

WantedDo you or anyone you know have skills or talents to

share with the UMDF. Committee volunteers areone of the life lines in our quest for better

treatments and cures!Your family, friends, co-workers may want to help �

let us know what skills or talents they have andwe�ll try to find a place for them on a committee!

Email [email protected] and put Committee Interest inthe subject line or call 412-793-8077.


Fundraisers

The Welhouse Family, ofKimberly, WI, have been busyraising awareness and dollars.

The UMDF/Elena's HopeResearch Fund has held aMother's Day Flower Sale,

Younkers Community Day Sale($4,354) and a dinner benefit.Total raised at time of printing

this newsletter was nearly$24,000.

Special thanks to the Southwestand Southeast Outagamie

County Chapters of ThriventFinancial For Lutherans for

donating grant money totalingmore than $2,600 on behalf of

Elena.

� A yard sale in Allentown, PAraised $75 in honor of AshlynSnyder -- LOVE it!

� To celebrate Elspeth Gray�s80th birthday, $325 wasdonated in memory ofKayley McManus ofClewiston, FL. HappyBelated Birthday, Elspeth!

� Natalie Petro and AbbyKimicata, of Monroeville,PA, raised $28 with theirKool-Aide stand forUMDF families!

Elena�s Hope RaisingDollars for Research

The Simple Things"" Raising Dollars for ""

Research!

American International Group Inc.(AIG)

American Express Gift MatchingProgram

Ameriprise FinancialAmeriquest Mortgage CompanyAon FoundationAT&T Services, Inc.Bank of AmericaBP FoundationCNA FoundationCSG Systems, Inc.DELLDePuy SpineDupont Powder CoatingsFleetGannett Foundation, Inc.GAP FoundationFM Global FoundationHalliburton Foundation, Inc.Illinois Tool Works Foundation (ITW)John Hancock Financial Services,

Inc.Johnson & Johnson Family of

CompaniesJohnston-Lemon Group, Inc. (JLG)Key FoundationKimberly Clark Foundation, Inc.McDonald's CorporationMassMutual MicrosoftNationwide FoundationOppenheimerFunds Inc.PEC Solutions, Inc.PPG Industries FoundationProgressive Insurance FoundationRBC CenturaRoche Diagnostics Saint-Gobain CorporationSBC CommunicationsSIG (Susquehanna Internat'l Group,

LLP)Subaru of America Foundation, Inc.The J.P. Morgan Chase FoundationThe Prudential FoundationThrivent FinancialTrans Union LLCUnion Bank of CaliforniaWachovia Foundation

Matching GiftsDouble Your Gift Giving

Does your employer participate ina Corporate Matching Gift Program?If so, your gift could be doubled.The following companies havematched gifts to UMDF in the past.If you or a loved one works for oneof these companies, check out thematching gift program and help usmove one step closer to a cure!!

United Way and YouMany companies require United

Way giving. Why not take this asan opportunity to support UMDF?Start off by asking the employeesyou work closely with, and maybethey'll help spread the word.

How to make it work . . .

The United Way campaign inyour local area is designed to meeta diversity of health and humancare needs. You may give anunrestricted gift, and in some areas,you may designate UMDF as therecipient of your gift to UnitedWay. Contact your local UnitedWay office to find out if there is aDONOR CHOICE program in yourarea. We have received funds froma variety of communities throughthe donor choice program, and weappreciate being included in thiseffort.

We will acknowledge each giftreceived unless otherwise indicatedor if no address is provided.

Simply complete the appropriateform (available through youremployer) as follows:

United Mitochondrial Disease Foundation8085 Saltsburg Road, Suite 201Pittsburgh, PA. 15239 Phone: (412) 793-8077 Fax: (412) 793-6477Attention: Mark Campbell

Ask Your Employer About ...

IBM Employees can now contributea portion of their pay to UMDF aspart of the Employee Charitable

Contribution Campaign which runsAugust 1 through October 27,2006. This campaign includes

retirees, executives and all300,000 plus employees. Special

thanks to Partrick Sullivan formaking this happen � in honor of

the Juhlmann family!

cont.

Atlanta 2006


Mito Group of Idaho hosts aBBQ for families -- parents, kidsand other loved ones enjoyedfood, balloon animals, magictricks and face painting. Thegroup is planning a Bowl-a-

Thon in October. Bender familypictured left.

The 600-mile ride beganFriday, June 9 at 8 a.m. when

a dozen riders took to theirbikes at Riley Hospital for

Children in Indianapolis, IN.

Eight grueling days later theyarrived in Atlanta, Georgia, to a

large crowd of supporters. Colin Coburn said it was "one of thehighlights of my life." Fellow rider John Fleck, a coworker and friend

to a mito family, commented that "it was an honor to serve andparticipate in some small way." Special thanks to all of our riders for

keeping the 2006 event alive � especially Marc Reich and ColinCoburn! Visit www.umdf.org/milesformito!

Pictured above are the riders and the crowd in front of the Sheratonon Courtland Street in Downtown Atlanta. These courageous young

men and women continue to go the extra mile for UMDF and itsfamilies � media coverage was GREAT (Colin and Stacy Coburn with

local news station pictured above)! The crew will have theirchallenge next year -- San Diego, CA. Anyone interested in helping

with this phenomenal event, please email [email protected] or call 412-793-8077.

Miles for MitoStory Cont. from Page 8

Meet the RidersBob Thomas, Indiana Chapter

Vice President - parent of affectedson, Gabe Thomas

Marc Reich, Atlanta Chapter VicePresident - parent of affected

daughter, Hannah Reich

Karen Rossi, of Pickerington, OH- lost her sister, Nancy, to

mitochondrial disease

Eric Boling, Indiana Chapter -parent of affected son,

Seth Boling

John Fleck, of Indianapolis, ridingon behalf of a boss with an

affected child

Nicole Kernan, of Indianapolis -riding on behalf of a friend with an

affected child

Ryan Shatto, of Columbus, IN -riding on behalf of a friend with an

affected child

Bob Jenks, of Indianapolis - ridingon behalf of a boss with an

affected child

Colin Coburn, of Roswell, GA -riding on behalf of affected son,

Carson

Todd Rogers, of Greer, SC - ridingon behalf of affected son, Carson

UMDF Research LiaisonAwarded

�2006 Professor of the Year�Associate Professor Dr. Steven Bassett,of Monroeville, PA, recently received the2006 Professor of the Year award fromSeton Hill University for his outstanding

work in education. The UMDFcongratulates Dr. Bassett on this

achievement and extends deepestappreciation for his continued (volunteer)

efforts in providing user-friendlyinformation about our little friend, the

mitochondria!

Order UMDF Merchandise forthe Holidays! Visit

www.umdf.org for moreinformation on how to order,

or call 412-793-8077.

According toGoodSearch,

last year search enginesgenerated close to $6 billion in

revenue from advertisers. GoodSearch, powered byYahoo, developed a way to direct some of that money tothe causes you care about most. It's easy ... every timeyou search the Internet at GoodSearch.com, UMDFearns money and the more you search, the more dollarswe make to find better treatments and cures. Add up themoney generated from all your searches and those doneby the millions of other people who we hope will useGoodSearch, and we can make a real difference to thepeople and causes that need funds most.

How does it work?Type http://www.goodsearch.com/?charityid=806412 intoyour browser. Search the Internet just like you normallywould and a donation of one penny per search is

contributed to UMDF. We have not promoted thisopportunity and still have over 1400 searches on ourbehalf. It is a simple concept � when searching on theinternet, instead of going through a well known searchengine like Google, you go through the GoodSearchengine. Individuals can also email their friends andfamily through GoodSearch to encourage others to usethis site as well. And it is powered through Yahoo, sothere is credibility to the program. Ask your co-workers,friends, family and students you may know.

Once you reach the site, add it to yourfavorites for future searches! Easy moneyto continue the UMDF mission!!

Announcements and Merchandise

Baylee Thompson Meets OSU Football Seniorsand AJ Hawk!Five-year-old Baylee Thompson, ofCrooksville, OH, met nine OhioState University football playersthis past winter. Baylee gotautographs from all nine players.In addition, a football signed by allthe senior players and CoachTressel raised $1000 at the 2006Bet on Baylee fundraiser forUMDF. AJ was given a UMDFEnergy for Life bracelet, and hewas seen wearing it at variousautograph signings around thestate. It was a wonderfulexperience for the Thompsonfamily, and it raised awarenessacross Ohio. Best wishes to AJHawk and his new position withthe Green Bay Packers!

New Search Engine Benefits UMDF

GGooooddSSeeaarrcchh

Mitochondrial Medicine BookEditors - Salvatore DiMauro, Michio Hirano, EricA. Schon

Contact [email protected] for an order form or visitwww.informahealthcare.com

About the Book Providing an authoritative update on our currentknowledge of mitochondrial medicine, this textdraws together world authorities from variousfields to present general therapeutic strategies,as well as the treatments presently available indifferent specialties - thus making it essentialreading for clinicians involved with themanagement of patients with mitochondrialdiseases.

Moved Recentlyor Planning to

Move? If so, please don�t forget togive us your new address!

It will save us postage(yes, more money forsupport and research

efforts), and it will ensurethat you always get yourUMDF newsletters and

other mailings as soon aspossible. To update yourmailing address, email usat [email protected]. Thanks!


UMDF Annual Membership Meeting NoticeThursday, November 30, 2006 at 1:00 p.m. Eastern Time

Location: UMDF National Office, Pittsburgh, PA


ALABAMAAmbassador - Huntsville/Madison CountyContact: Peggy Stolz ContiEmail: [email protected]

ARIZONA!Arizona ChapterPresident: Suzanne PerrymanEmail: [email protected]

CALIFORNIA!Southern California ChapterPresident: Steve GrossmanEmail: [email protected]

Ambassador - Southern CA/Inland EmpireContact: E.J. and Debbie FogelEmail: [email protected]

Ambassador - Sacramento ValleyContact: Valina CombsEmail: [email protected]

FLORIDAAmbassador - MelbourneContact: Christine GoldenEmail: [email protected]

North Central Florida Mito GroupContact: Alicia KaminskiEmail: [email protected]

Ambassador - South FLContact: Jennifer CliftonEmail: [email protected]

Ambassador - Southern GA/Northern FLContact: Erin WillisEmail: [email protected]

GEORGIA!Atlanta Area ChapterPresident: Chris SwinnEmail: [email protected]

IDAHOIdaho Mito GroupContact: Jennifer PfefferleEmail: [email protected]

INDIANA!Indiana ChapterPresident: Sue Ann BubeEmail: [email protected]

ILLINOIS!Chicago Area ChapterPresident: Patrick KellyEmail: [email protected]

Central Illinois Mito GroupContact: Crystal SmithEmail: [email protected]

IOWAAmbassador - Northern IowaContact: Ronda EickEmail: [email protected]

Ambassador - Southern IowaContact: Kim NovyEmail: [email protected]

KENTUCKYAmbassador - LouisvilleContact: Krystena RichardsEmail: [email protected]

MARYLANDDC Area Mito GroupContact: David HammEmail: [email protected]

MASSACHUSETTS!New England ChapterPresident: Bridget WillisEmail: [email protected]

MICHIGANWestern Michigan Mito GroupContact: Suzanne ArendsEmail: [email protected]

MISSOURI/KANSAS!Kansas City ChapterPresident: Pam JohnsonEmail: [email protected]

St. Louis Area Mito GroupContact: Marsha HoheEmail: [email protected]

NEW YORK!New York Metro ChapterPresident: Mary PisaniEmail: [email protected]

Ambassador - New PaltzContact: Beth and James DeArceEmail: [email protected]

Ambassador - Northern NYContact: Chrishelle & Kristopher ConlinEmail: [email protected]

NEW JERSEYAmbassador - Southern NJContact: Sarah ByrneEmail: [email protected]

OHIO!Ohio Chapter, Cleveland, OHPresident: Bill HodgesEmail: [email protected]

Columbus Mito GroupContact: Shawna SteeleEmail: [email protected]

Cincinnati Mito GroupContact: Jeff & Cindy SaltEmail: [email protected]

Ambassador - Southeast OhioContact: Jody ThompsonEmail: [email protected]

UMDF Chapters, Mito Groups & AmbassadorsOREGONPacific Northwest Mito GroupContact: Gretta ColeEmail: [email protected]

PENNSYLVANIA!Delaware Valley ChapterPresident: Maripat ShellyEmail: [email protected]

Pittsburgh Mito GroupContact: Karen WilsonEmail: [email protected]

Ambassador - Central PAContact: Kim OlenderskiEmail: [email protected]

SOUTH CAROLINAAmbassador - ChapinContact: Karis MottEmail: [email protected]

Carolina Foothills Mito GroupContact: Allison RogersEmail: [email protected]

TENNESSEEAmbassador - Crossville, TNContact: Regina NorrodEmail: [email protected]

TEXASDallas Mito GroupContact: Tova SidoEmail: [email protected]

Houston Mito GroupContact: Deb SchindlerEmail: [email protected]

UTAHAmbassador - Utah/North DakotaContact: Lyn TaggartEmail: [email protected]

WASHINGTONAmbassador - Northwestern WAContact: Joy KrumdiackEmail: [email protected]

WISCONSINAmbassador - Kimberly, WIContact: Mindy WelhouseEmail: [email protected]

Ambassador - Waukesha, WIContact: Anne JuhlmannEmail: [email protected]

OUTSIDE OF THE UNITED STATES

AUSTRALIAContact: Rob RyanEmail: [email protected]


We have received over 200 forms from members who are willing to Mitoconnect, and we are ready to �Connectthe Dots� for you by fulfilling your networking requests!

You must be a member of UMDF in order to participate in Mitoconnect. Members will be matched based ondiagnosis, location, age, or symptoms. Please let us know which one of these options is most important to you.

" I am a current UMDF member and have already completed a Mitoconnect questionnaire (see descriptionbelow). Please connect me with another member. (Rank by importance to you. 1= most important)

___ Diagnosis___ Location___ Age___ Symptoms

" I am a current UMDF member and have not completed a Mitoconnect questionnaire. Please send me aMitoconnect questionnaire form.

" I am not a UMDF member, please send me membership information.

Please supply us with your contact information:

Name:

Address:

Phone:

Email:

Please complete this form and send your request to: UMDF, Attn: Membership Services, 8085 Saltsburg Rd.Suite 201, Pittsburgh, PA 15239. Or, email all relevant information to [email protected].

Are you ready to

ITOCONNECT?�

��

��

� �

��

��

What is MITOCONNECT?The Mitoconnect program is a revamped patient registry that will allow members to network with otherswho have similar diagnoses and symptoms. Mitoconnect can be used to connect parents of affectedchildren or affected adults.

The Mitoconnect questionnaire asks for basic information concerning the affected person�s diagnosis,age, gender, most pronounced or troublesome symptoms, and the area of the country in which theylive. Based upon this information and your above request, the UMDF staff will provide you with contactinformation for other members so that you can talk one-on-one with others who understand what you�regoing through.

NONPROFIT ORG.U.S. POSTAGE

PAIDPittsburgh, PA

Permit No. 4899

Volume 11 � Issue 2 � SPR/SUM 2006

In This Issue:Depression and Anxiety . . . . . . . . . . . . . . . 1Chairman Report . . . . . . . . . . . . . . . . . 3-4Ask the Mito Doc. . . . . . . . . . . . . . . . . . . . 2Chapter Activities . . . . . . . . . . . . . . . . . . 5-8Board Spotlight. . . . . . . . . . . . . . . . . . . . . . 9Adults Corner . . . . . . . . . . . . . . . . . . . . . . 10Event Calendar . . . . . . . . . . . . . . . . . . . . 12Fundraisers . . . . . . . . . . . . . . . . . . 13-15,19Development Corner. . . . . . . . . . . . . . 18-19Symposium . . . . . . . . . . . . . . . . . . . 1, 16-17Announcements & Chapter/Group . . . 21-22Mito Connect . . . . . . . . . . . . . . . . . . . . . . 23

Deadline for the Fall issue is October 31, 2006

UMDF MISSIONTo promote research and education for the diagnosis, treatment

and cure of mitochondrial disorders and to provide support toaffected individuals and families.

8085 Saltsburg Road, Suite 201Pittsburgh, PA 15239Phone 412-793-8077

Fax [email protected] � www.umdf.org

© The United Mitochondrial Disease Foundation.All rights reserved.

UMDF�s intent is to keep you informed - we askthat you always discuss any diagnoses,

treatments, or medications with your personalphysician. UMDF assumes no liability for any

information in the Mitochondrial News.

The UMDF Office StaffWe�re Here to Help You! 412-793-8077

CEO/Executive DirectorCharles A. Mohan, Jr., [email protected], ext. 111

Chief Financial OfficerMark Campbell, [email protected], ext. 110

Director of CommunicationsKara Strittmatter, [email protected], ext. 114

Director of Member ServicesJohn Eliyas, [email protected], ext. 101

Director of DevelopmentMichelle M. Lawler (Braden), [email protected], ext. 113

Manager of Special EventsJodie Tabano, [email protected], ext. 106

Special EventsTania Hanscom, [email protected], ext. 102

CommunicationsAmy Campbell, [email protected], ext. 112

Member ServicesBethany Bassett, [email protected], ext. 104Melinda O�Toole, [email protected], ext. 103

Data Processing Donna Nameth, [email protected], ext. 109

UMDF Research Grants ProgramJean Bassett, [email protected], ext. 105

Administration Barbara Podowski, [email protected], ext. 100

MNEWS ITOCHONDRIAL...2 Mitochondrial News Spring/Summer 2006 Living with mitochondrial disease...

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