you’reinvited!...volume5 issue2 fall2006 inthisissue peregrine grant pg3 celebrating fiveyearsof...

Volume 5Issue 2Fall 2006

In this issue

PeregrineGrant Pg 3

CelebratingFive Years ofSaving OurBabies

Pg 5

CAH PersonalStory: Shelby

Pg 6

InterpretingResearch

Pg 8

Insulin Pumpfor CAH

Pg 9

PersonalStory: Chris

Pg 10

Office NewsPg 12

New MedicalAdvisors

Pg 13

SupportGroups

Pg 15

NBS UpdatePg 18

Clinical TrialsPg 21

2006 CAHConference

Pg 23

2414MorrisAve, Suite 110, Union, NJ 07083InNewJersey: 973-912-3895Toll Free:1-866-CARES37Fax: 973-912-8990Email: [email protected]

You’re Invited!

*see page 23 for details

Attention Federal Employees:Donate to CARESCFC #2937

CARES has been approved for asecond year as a member of theCombined Federal Campaign (CFC)operated by the Office of PersonnelManagement (OPM). The CARESFoundation code is #2937. The 2006campaign will run from Sept.1st toDec. 15th. Please speak to youremployer about enrolling andencourage family and friends to enrollas well. For more information, visit theOPM website:

http://www.opm.gov/cfc/index.htm

3β-Hydroxysteroid Dehydrogenase Deficient NCAH:A Myth or Reality?

Ricardo Azziz, M.D., M.P.H., M.B.A.

In contrast to classic adrenal hyperplasia(CAH), which cause symptoms that areevident either at or immediately after birth, thenonclassic adrenal hyperplasias are a series ofinherited disorders that cause symptoms generallynear or after puberty. Signs and symptomsassociated with nonclassic adrenal hyperplasia(NCAH) include signs of premature puberty,including early growth of pubic and underarm hairand advanced bone age. More commonly, post-pubertal women develop excessive facial andbody hair, irregular periods, acne, and scalp hairloss (androgenic alopecia). Some women withNCAH have difficulty conceiving due to irregularovulation as well as the very high levels ofcirculating progesterones, hormones made in theadrenal glands and ovaries, which causes thelining of the uterus to be unreceptive to apregnancy.

The most common cause of NCAH is 21-hydroxylase (21-OH) deficiency, due to a genetic

defect of the gene CYP21. In fact, well over 90percent of all CAH and NCAH cases are due togenetic mutations of this gene. There are twoother theoretical causes of NCAH includinggenetic defects of the genes CYP11B1(determining 11β-hydroxylase [11-OH] activity)and HSD3B2, (determining 3β-hydroxysteroiddehydrogenase [3β-HSD] activity). To date, fewsubjects have been found to be affected with 11-OH deficient NCAH, the vast majority of themare children, and no patient with geneticallyconfirmed 11-OH deficient NCAH has beendiagnosed in adulthood.

Previous reports have suggested that 3β-HSDdeficient NCAH is one of the most commoncauses of androgen (male hormone) excess inwomen. This assumption was based on the findingthat many hyperandrogenic patients had elevatedlevels of 17-hydroxypregnenolone and DHEA;both of these steroids are immediate precursors tothe 3β-HSD enzyme. However, others and we

continued, see Overdiagnosis on page 16

This newsletter issue is generously sponsored by the Cornell University Institute for Pediatric Urology.

improving health . . . connecting people . . . saving lives

2006 CARESCAH

Conference

Seton Hall UniversitySouth Orange, NJ

“bringing the CAH community together”

CARES Foundation, Inc.Fall 2006

FoundersKelly and Adam Leight

StaffKelly R. Leight

Executive [email protected]

Meryl I. StoneAssociate Director

[email protected] E. Anthony

Program [email protected]

Mariel VargasProgram Development

[email protected] Mann RosenblattDirector of Development

[email protected]

Stephanie ErbMember Services Consultant

[email protected] Alger Lin

Public Relations [email protected] OF TRUSTEESKelly Rosso Leight, President

K.Adam Leight, Vice PresidentVivian Altman Quintanilla, Treasurer

Stephanie R. Fracassa, SecretaryJami Abell-Patterson

Sandra BillingsMichelle Cascarelli

Laurie EmberMark Engman

Nancy Kislin FlaumJanet Green

Monica HeinzeTonya Judson, R.N.

Gregory KraffJayne Mackta

Alan MacySarah Macyshyn

Michelle May, M.D.Hope Z. RaphalianDiane Snyder, M.D.

Bonnie StevensSCIENTIFIC & MEDICAL

ADVISORY BOARDHenry Anhalt, D.O.Ricardo Azziz, M.D.

Susan W. Baker, Ph.D.Sheri A. Berenbaum, Ph.D.

Walter Futterweit, M.D.Mitchell E. Geffner, M.D.

Daniel Gunther, M.D.Claude Migeon, M.D.Maria I. New, M.D.Dix P. Poppas, M.D.

Richard C. Rink, M.D.Scott A. Rivkees, M.D.

Ellen Seely, M.D.Phyllis W. Speiser, M.D.

Bradford L. Therrell, Ph.D.Maria Vogiatzi, M.D.Garry Warne, M.D.

This newsletter is published 3 times a year.

© 2006 CARES Foundation, Inc. All rights reserved. Republication or redistribution ofCARES newsletter content, including by framing or similar means, is prohibited withoutthe prior written consent of CARES.

A Message from theExecutive Director

Dear Friends,The Crisis

The quotation above epitomizes theexperience of CARES Foundation overthe last few months. The morning ofFebruary 17, 2006 changed so much forus. Watching our office building burndown, and with it all of our possessions,five years of work product, our server andour precious database, was devastating.Our on-site server back-up was destroyedas well, so we irretrievably lost all data.After calling our insurance agent, werealized we were dreadfully under-insured. An overwhelming anxiety andfear gripped the staff. We were heart-broken and thought perhaps this was theend of CARES.

Within hours of the fire, the phonecalls from our friends began, and youopened up your checkbooks, gave of yourtime and rescued CARES. Ourcommunity—and indeed we are acommunity in the truest sense—came toour rescue and provided the moral,volunteer and financial support we soneeded. You cannot imagine how muchyour calls, emails and letters meant to usall. Many made us cry—tears of joy toknow that you cared about us and the workwe did for the CAH community. You keptus going during a time when it was oftentempting to give up. The financial supportwas and is essential, as we could not havemade it without the extra help. I, we,cannot thank you enough for keeping usgoing during that difficult time. Pleaseknow how much you all mean to us andhow much we appreciate your support.This is the meaning of community—beingthere for each other. You were there for us,so we can be there for you. May GodBless you all.New Opportunities

Thanks to your generosity and the

generosity of the local community, ourfoundation and corporate donors, we havebeen able to move into new offices inUnion, New Jersey and buy new (used)furniture, computers and office equipment.The local community came out in force.Rabbi Daniel Cohen from Temple ShareyTefilo-Israel dropped off two newcomputers and two new printers just daysafter the fire, paid out of his own pocket.The youth group from the synagogue alsoheld a fundraiser for us. The local RotaryClub, Junior League, local school groupsand Whole Foods Market all raised fundsfor CARES. The Healthcare Foundation ofNew Jersey, the Karma Foundation,RolexUSA, Inc. and PerkinElmer, Inc. allmade generous donations to help getCARES back on its feet. With thesegenerous gifts, we have been able to re-establish our operations and are strongerthan ever!

We also thank the volunteers whohelped with countless hours of data entryand, most of all, our dedicated, hardworkingand tireless staff for never giving up andworking so hard to rebuild CARES underthese extremely difficult circumstances.

We are settled into our new offices, justa couple of miles from our old office andare so happy to be in our new home! Pleasecome for a visit anytime!Celebrating Five Years of Saving OurBabies

On June 17, 2006, we held our firstfundraiser in New Jersey. It was awonderful evening. About 200 peopleturned out to honor former GovernorDonald DiFrancesco for signing an

© 2006

“When written in Chinese, the word ‘crisis’ iscomposed of 2 characters. One represents danger,

and the other represents opportunity.”(John Fitzgerald Kennedy, 35th US president, 1917-63)

CARES Foundation, Inc. Fall 2006

3

© 2006

Disclaimer:Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be takento be the provision or practice of medical, nursing or professional healthcare advice or services. The information should not be considered complete orexhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcare provider. You should not us theinformation in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physicianor healthcare provider. The articles presented in this newsletter are for informational purposes only and do no necessarily reflect the views of CARESFoundation, Inc.

CARES Awarded $50,000 from Peregrine CharitiesCARES Foundation is excited to

announce its receipt of a $50,000 grantfrom Peregrine Charities to aid infunding clinical research for CongenitalAdrenal Hyperplasia (CAH).

This grant will be used to continuethe funding of seminal new research, aNatural History Protocol of CAH, asbeing conducted by Deborah Merke,MD, MS, Chief of Pediatric Servicesfor the National Institutes of HealthClinical Center.

The outcome of this researchprotocol will be a foundation for thestudy, treatment, and hopefully, a cureof individuals with CAH.

As with any disease, research isimperative to understanding the basic

cause. Through a complete andthorough examination of a disorder,effective and groundbreakingtreatments can be established.

CARES Foundation is extremelygrateful to Peregrine Charities for itscommitment to the continuation of suchresearch.

Peregrine Charities has beenformed as a grant-making familyfoundation to help under-funded andunderserved populations—familiesafflicted by rare or "orphan" diseases.The Wasendorf family chose to start thisphilanthropy to assist needyorganizations.

Peregrine Charities was establishedas a 501(c)3 in May of 2004 and hopes

to give worthy organizations over onemillion dollars in funding from thisprivate Wasendorf family foundation onan annual basis.

For more information on PeregrineCharities please visitwww.peregrinecharities.org.

To learn more about the CAHNatural History Study, please see page22.

executive order five years ago that has led tosaving the lives of almost 300 New Jerseybabies, including many with CAH. Specialthanks are due to our chairs, Adam Leightand James Raphalian and to our hardworking committee members, as well as ourgenerous corporate sponsors, including:Pfizer, Inc., Keyspan Energy, andCommerce Bank. We also thank all ofthose who gave generously to the event,attended and to those who donated to theauction. We raised over $117,000 forCARES and for CAH research!Casino For CARES

Many thanks to our chair of this lovelyevent, Monica Heinze, who almost single-handedly organized this event. About 80people joined her on July 29th in Denver,Colorado for a fun-filled evening of casinogames to raise over $14,000 for CARES!Many thanks to Monica and to all whoattended and supported the event!New Members of the Board of Trustees,Medical and Scientific Advisory Board,and New Staff

We are pleased to welcome Gregory

Kraff and Monica Heinze to our Board ofTrustees. Both Monica and Greg havechildren affected by CAH and are long-time, active members of CARES. We aredelighted to have them join our board. Weare also honored to have two new membersof our Scientific and Medical AdvisoryBoard, Dr. Henry Anhalt of St. BarnabasMedical Center and Dr. Maria Vogiatzi ofWeill-Cornell New York PresbyterianHospital. You can read more about them onpage 13. We also welcome new staffmembers, Jennifer Mann Rosenblatt, ourDirector of Development and MazalWolfskehl our bookkeeper. They makewonderful additions to our CARES team!In Other News

We mourn the loss of our dear friendand wonderful supporter David Abell. Ourhearts and minds are with his family andfriends. Please see page 13 to learn moreabout David and his wonderfulcontributions to humanity.

We thank Peregrine Charities for theirgenerous grant that will allow us to continuefunding a natural history protocol at NIH

(see below).We thank Dan Hackett and his father

Steve Hackett for approaching BibberoSystems on our behalf. Bibbero selectedCARES for its employee giving/ matchinggift program. To learn more, please see page14.

Finally, we thank the Cornell Institutefor Pediatric Urology for generouslysponsoring this edition of the newsletter.Our newsletter costs several thousanddollars to print and distribute and remainscompletely free of charge for all CARESmembers. Thank You!Gratitude

“At times our own light goes out and isrekindled by a spark from another person.Each of us has cause to think with deepgratitude of those who have lighted theflame within us.” (Albert Schweitzer, M.D.,German theologian, philosopher, and physician,1875-1965)

With Warmest Regards,

Kelly


4

© 2006

We Get By With A Little Help from Our FriendsIt’s during tough times when you find out who your true friends are, and CARES has definitely seen some tough times.Although we faced a devastating fire in February that destroyed our offices, we never closed our doors—not even for oneday. The only way we were able to do this was through the generous support of our friends, who rallied on our behalf withemergency funding, donations, and help with fundraisers. We cannot thank you all enough!

Special thanks to our corporate andfoundation donors who helped usthrough this most difficult time.

Healthcare Foundation of NJKarma FoundationRolex USA, Inc.

Pfizer, Inc.PerkinElmer

We would also like to thank ournumerous members who so generously

gave and allowed us to continue ourwork as the only US organization

devoted entirely to the CAH community.

Junior League Saves the Day! The Junior League ofThe Oranges and Short Hills came to CARES’ aid inthe weeks following the fire with the donation ofsupplies and a generous grant for rebuilding.

Rotary Club to the Resuce! The Rotary Club ofChatham, Millburn & Short Hills provided CARES withemergency funding in the wake of the fire thatdestroyed CARES offices.

Grilling for a Good Cause: Kelly, Josh and AlyssaLeight help Whole Foods employees sell snacks. WholeFoods of Millburn, NJ chose CARES for its “Good WillFrom the Grill” community fundraiser. Whole Foodsemployees volunteered their time to grill burgers andsell healthy snack foods, raising almost $500 forCARES Foundation.

***Fundraising Updates continued on pages 14-15


5

© 2006

Celebrating Five Years of Saving Our BabiesOn June 17, 2006 CARES

Foundation celebrated five years ofexpanded newborn screening in NewJersey with “Celebrating Five Years ofSaving Our Babies,” which honoredformer Governor Donald T.DiFrancesco.

The event, held at the MaplewoodCountry Club, Maplewood, NJ, wasfantastically successful and featured acasino and raffle as well as silent andlive auctions.

In 2001, Governor DiFrancesosigned an Executive Order thatdramatically expanded newbornscreening in New Jersey and set up astructure for future expansion. Becauseof this action, hundreds of New Jerseybabies were saved.

In addition to the awareness theevent brought to New Jersey’s newbornscreening program, attention was alsobrought to CARES and its mission ofResearch, Education and Support.Through the hard work of the EventCommittee and our dedicated staff,CARES raised over $117,000 for itsprograms. This is due, in large part, toour wonderful corporate and privatesponsors which include:

Pfizer, Inc.KeySpan Home Energy Services

Adam & Kelly LeightCommerce Bank

James & Hope RaphalianRolex USA, Inc.

John & Carolyn FerolitoJoel & Ethel Sharenow

Our sincerest gratitude goes toeveryone who helped make our secondmajor fundraiser such a tremendoussuccess. We couldn’t have done itwithout you!

From Left: ErinAnthony, Meryl Stone, Kelly Leight and Mariel Vargas pose withGovernor Don DiFrancesco at the Maplewood Country Club, Maplewood, NJ.A 2001 Executive Order signed by Gov. DiFrancesco dramatically expandedNew Jersey’s Newborn Screening Program, saving hundreds of babies.

Alyssa Leight pulls the winning raffle ticket. Jami Abell-Patterson (CA) wasthe lucky winner of the Women’s Rolex Watch generously donated by RolexUSA, Inc.


6

© 2006

Personal Story Shelby’s TripsBy Julie Boutilier

To those of you out there thatknow Shelby and know aboutour trips to Chapel Hill, I thought youshould hear about our most recent trip.To give a little background, Shelby isparticipating in a clinical trial study fora new drug that could someday be verybeneficial to those with CAH. It couldlower doses of steroid, while promotingincrease in growth and lowering weightgain—a very worth while effort by thedoctors of UNC at Chapel Hill.

In order to participate, Shelby takesthis drug daily and we make a visit toUNC once a month. The tests and thedrugs cost nothing, but the trips can bequite costly. There are people that pourout their hearts and pocket books andskills to people they do not know. I wantto tell you about these people, althoughI can not tell you their names—theywouldn’t want me to.From the Beginning

It all started with Shelby and meneeding a flight. My dad knew a pilotwho was part of an organization calledAngel Flight. These people ARE angels.They fly kids in need to differenthospitals around the country, free ofcharge. This pilot, that my dad knows,set up one such flight for us. However,due to bad weather, the flight wascancelled. Even though we couldn’t useAngel Flight for this trip, thisgentleman, along with some other pilotsat the Grenwood Airport, took up acollection for Shel. It was not a smallamount of money and it is what we useto pay for food and expenses when wemake the trip.

We were finally able to take one ofthe Angel Flights. It is two legs of

flights, one from Greenwood, IN toBeckley, WV and one from Beckley toRaleigh, NC. Our trip home was thesame. I was humbled by the kindnessthose men showed Shelby and me. Theyfly their own planes, with their own gasand time for total strangers.About Our Pilots

Our first pilot was in his 60’s withgrown children and a beautiful plane.He was active in volunteering for DucksUnlimited and other organization andflew for us. Why? I don’t know.

The second man’s aircraft wasmuch older and a littleslower, but the manhad the samebackground.He, too, wasin his 60’s,

volunteeredfor a soupkitchen andwas on it’s board,had a wife of 40 years,grown kids and had cancer.Yeah, he had his own problems, but hewanted us to be his 45th Angel Flight.Our Journey

This journey keeps getting moreand more intense for us. We stayed atthe Ronald McDonald house. In ourroom was a journal of those who havebeen here before us. They speak of littlelives that are in one place—in God’shands. No one else knows what willhappen. Every one of the lettersacknowledges a total lack of control.

So, that’s it. That is what I’m hereto tell. This woman, who a year ago wasin tears and panic stricken at the thoughtof flying, has now been on over 20flights in 5 months. I’m not over it yet,but through the knocking knees andbloody noses I’m learning. Like eachparent in the journal knows, we justaren’t in control.Good News

Shelby has lost a pound and gainedand inch as of this appointment.Hopefully, this is a sign of good thingsto come. Our flight going home on

Angel Flight was cancelled due toice in the clouds (SCARY),

so we were left inChapel Hill a day

longer thanexpected. (It was70 degreesthere, and thecherryblossoms werein bloom, so this

was not ahardship). We took

a commercial flighthome the next day. The

people at Enterprise Rentalknew we were with Angel Flight

and waved any extra fees for ouralready reduced car rental, and theRonald McDonald house is let us stayan extra night.

Julie Boutilier is a mother from Indianpolis, IN. The following was adapted from an email she shared with us while travelingwith her daughter to North Carolina. We are very grateful she offered to share her family’s story with us.

“Thereare people that

pour out their hearts andpocket books and skills topeople they do not know. I

want to tell you aboutthese people. . .”

If you have a story you think wouldbe beneficial to our audience andwould like to share it, please [email protected] or call (tollfree) 866-227-3737.


7

© 2006

Angel Flight® America (AFA) provides access forpeople in need seeking free air transportation tospecialized health care facilities or distantdestinations due to family, community or nationalcrisis. For more information on the organization,please call 877-858-7788 or visit

www.angelflightmaerica.org .

As many families know, managing the medical costs of CAH can be difficult—especially when without health insurance.Quest Diagnostics’ Indigent Patient Program is designed to help uninsured patients who cannot afford to pay for their clinicallaboratory testing manage their laboratory costs.

Quest Indigent Patient Program Helps with Lab Costs

Eligibility

• The program is available to uninsured patients who cannot afford to pay their bill.• Certain information, such as your W-2, is required to verify your income.• Those eligible for federal food stamps, Medical Assistance, or the Hill-Burton Program will qualify.• You may be required to submit proof of your eligibility for one or more of these programs.

If you do not currently qualify for these programs, Quest will take into account your income and family unit size based onguidelines provided by the US Department of Health and Human Services. These guidelines are updated on an annual basisand are available at the HHS website.

Because of certain federal and state regulations, Quest cannot waive co-payments or deductibles from insurancecompanies. Therefore, Quest’s Indigent Patient Program is only available to patients who do not have healthinsurance coverage.

How to ApplyIf you cannot afford to pay your bill and you are uninsured, call the telephone number listed on your invoice. Ask theBilling Representative for a Quest Diagnostics Indigent Patient Program application. Return the application to Quest within30 days of receipt, so that they can place your bill on hold while they make their determination.

Based on your request and financial income, Quest will work with you to determine whether or not you qualify for theirprogram. They will notify you whether or not you qualify for financial assistance from Quest Diagnostics and indicatewhat portion of the invoice has been credited. If you do not qualify, they will develop a payment schedule for you. For moreinformation on this program, please visit http://www.questdiagnostics.com/patient/indigent_program.html .

Cody Cares Medical ID Jewelry4155 Carson Avenue

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[email protected]://www.codycaresid.com

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Choose from:ID BraceletsShoetagsID Wristbands (perfect for infants & sports)

New items added all the time... Check the website!!!

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A portion of all proceeds will go to CARESFoundation, Inc.


8

© 2006

Interpreting research results:The dangers of scient i f ic jargon

Recently, Dr. Knickmeyer andcolleagues conducted aresearch study involving people withcongenital adrenal hyperplasia (CAH);the study was titled “Androgen andautistic traits: A study of individualswith congenital adrenal hyperplasia.1”For parents of affected children, titlessuch as these can sound quite alarming– leaving parents to wonder if, justbecause their child has CAH, he or shemight also have or develop autism.Autism is a developmental disordercharacterized by severe impairment incommunication, social interaction, andcreative or imaginative play. In short,the answer to that question is “no.”

Prior to conducting this study, otherresearch showed that autism is moreprevalent in males than females. It wasthought that increased testosteroneduring prenatal development might be afactor in why more males have autismthan females. The authors attempted totest the hypothesis that autistic traits(eg, poor social skills, communication,imagination, and attention switching)are associated with high prenataltestosterone levels by measuring thosetraits in people whose prenataltestosterone levels were higher thanaverage due to CAH.

Sixty research participants withclassical CAH (34 females, 26 males;53 with 21-OH deficiency salt-wastingCAH), and 49 unaffected relatives (24females, 25 males), ages 12 to 45 years,were recruited through pediatricendocrinology clinics and a CAHsupport group in the UK. Information

regarding participation rates was notrecorded. Each participant filled out aquestionnaire called the AutismSpectrum Quotient (AQ) that assessedfive areas: social skills, communication,imagination, attention to detail, andattention switching. On the AQ, scorescan range from 0 to 50 with higherscores indicating more characteristicslabeled as “autistic.” A score of 32 orabove in the general population is thepoint that triggers researchers andclinicians to do a more thorough test forautism.

After participants completed thequestionnaire, researchers compared the

scores of four groups of participants:CAH-affected females, unaffectedfemales, CAH-affected males, andunaffected males. They found that

unaffected males in this study hadsignificantly higher total AQ scores thanunaffected females. In addition, femaleswith CAH scored higher (that is, in themale direction) on total AQ thanunaffected females. In contrast, totalAQ scores of males with and withoutCAH did not differ statistically. Anotherway to look at it is shown in the figurebelow.

As you can see, on average, whileaffected females scored higher than theunaffected females, none of the groupsscored in the “clinical range” (theclinical range is the range at which youmight suspect participants were

autistic). In other words, this studyshows a subtle shift in some behaviorsfor girls and women who have CAH.Females with CAH showed AQ scores

Autism Spectrum Quotient ScoresAn AQ score of 32 or above in the general population is thepoint that triggers researchers and clinicians to do a morethorough test for Autism. None of the groups in this studyscored in the clinical range (32 or above).

Melissa Colsman, M.A. and David E. Sandberg, Ph.D.Psychiatry & Pediatrics

School of Medicine and Biomedical ScienceUniversity at Buffalo, The State University of New York

continued on next page


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© 2006

CAH is a challenge to manage,as the current medicationsavailable (hydrocortisone, prednisoneand dexamethasone) cannot mimiceasily the normal circadian rhythm ofcortisol in the circulation. This problemarises because of the way in which thesemedications are administered, so thatinevitably there are periods of over,normal and under exposure to theglucocorticoid during the 24-hourperiod.

The critical time period forglucocorticoid exposure is frommidnight through to the late afternoon,when the ACTH drive from the pituitaryis at its maximum. With the exception,perhaps, of dexamethasone, it is noteasy to deliver glucocorticoid in a wayin which ACTH suppression can easilybe achieved, as this would, in manyinstances, require dosing after midnightin order for suppression to last throughto the next morning. The situation canworsen during puberty when theclearance of hydrocortisone from thecirculation is increased, necessitatingmore frequent hydrocortisone dosing.

As the basic principle of endocrine

therapy is to deliver replacementtherapies in as physiological a manneras is possible, consideration needs to begiven as to how this might be achieved.Two options are available. One is tomodify the properties of hydrocortisonetablets into a slow release preparation.The other is to use other technologies todeliver hydrocortisone.

The latter is what we have donerecently in someone who clearedhydrocortisone very quickly. We usedan insulin pump system to deliver smallamounts of hydrocortisone, withvariable amounts programmed in on anhour-by-hour basis, so that we couldmimic the normalcircadian rhythm andget good control ofthe CAH in terms of17-OHP andandrogenconcentrations.

While thisapproach of wearinga pump anddelivering theh y d r o c o r t i s o n esubcutaneously may

not appeal to everyone, it is certainlyworth thinking about in situations wherehydrocortisone drug delivery isdifficult.

Insulin Pump for Hydrocortisone Delivery?

similar to that of males (affected andunaffected by CAH); it did NOT showthat they behaved like individualswith autism or associated disorders inthe autistic spectrum.

Studies like this one help illustratean important lesson to keep in mindwhile reading research: the goals ofscience and the goals of parents areoften very different. Much of thescientific research on CAH was initiated

so that we could learn about howbiological factors (for example,androgens) affect our behavior andpsychological development. Scientistswho study and conduct research onCAH are most interested in generalprinciples that influence humandevelopment. In contrast, your goal asparents is quite different: you areinterested in how your own child willgrow and develop. There is a lot of

research and information out there thatspeaks to the general principles ofdevelopment for people with CAH andsome of this will apply to your son ordaughter; other parts won’t. Your childis special. He or she, with your help,will grow and learn. And you’ll learnmore about your son or daughter as heor she grows.

1Knickmeyer R, Baron-Cohen S, Fane BA, Wheelwright S, Mathews GA, Conway GS et al. Androgens and autistic traits: Astudy of individuals with congenital adrenal hyperplasia. Hormones and Behavior 2006; 50:148-153.

continued from page 8

The pump shown here is the MiniMed Paradigm®madeby Medtronic MiniMed, Inc. It is about the size of a cellphone.

Peter Hindmarsh BSc, MBBS, MD,FRCP, FRCPCH is a PaediatricEndocrinologist specializing inAdrenal Diseases and Diabetes at theGreat Ormond Street Hospital inLondon, UK.

He has notified CARES that he willadvise any physician wishing to try thepump for his or her patient.

Peter Hindmarsh, M.D.


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© 2006

Personal Story Chris’ StoryChris is a teenager from the UK whose CAH is now managed using a pump normally reserved for diabetes. The following ishis mother Kathy’s account of his treatment. We are very grateful that Chris and his family offered to share their story with us.

Ithink one of the hardest things inlife is to see someone you love illand not be able to help them. So, as Irelate the following, know that it doesnot touch the emotions and anxieties ourfamily has felt over the past few years.I feel that CAH is such an individualdisorder, in that every person has it tovarying degrees and reacts to themedication differently, which makes itsuch a difficult condition to treat. Somechildren seem to have no problems andmanage very well, whereas others dobattle as my son Chris has.However, I would like toshare with you all what Iconsider an exciting newtreatment for CAH! It is a pump,which is used mainly fordiabetics but delivershydrocortisone subcutaneouslyat a continuous rate of infusion.My 18-year old-son Chris has SWCAHand has been using this pump sinceOctober 2004. For us, it has beennothing short of miraculous! In Chris’swords, the pump has given him back hislife!!

Almost from the time Chris couldfirst talk, he complained of very badheadaches. He would also always tirevery quickly and continually battledwith his weight. When he startedpuberty, things got even worse. Chris’slevels became almost impossible tocontrol and his general healthdeteriorated significantly. He started tolose weight rapidly; had no energy andno muscle tone; often sufferedfrom severe nausea and lived with aconstant headache. At times, he wouldfaint for no reason. During this period,I often had to stress dose him with

hydrocortisone.As you can imagine,

I became extremely desperate. We thenchanged endocrinologists to ProfessorPeter Hindmarsh, who took the time notonly to listen but hear all our problemsand luckily took a special interest inChris. After a lotof testing, he discovered that Chris wasnot absorbing the cortisol properly andwas metabolising hismedication extremely quickly. At onepoint, Chris was on a total dose of over

100 mgs of hydrocortisone, given over6 doses a day, yet still his CAH wascompletely out of control.

Prof Hindmarsh then spent monthsdeveloping a formula for ContinuousSubcutaneous Hydrocortisone Infusionvia a pump. He worked out the dosesso that the pump coulddeliver hydrocortisone at rateswhich mimic natural circadianrhythm.

In October of2004, Chris was started on thepump. Miraculously, his 17–OHPlevel came down to normal rangeswithin hours! His androstenedione andother adrenal hormone levels all alsocame down to within normal range.Even more amazing: after several days,Chris was headache free for the first

time in years and his nauseadisappeared. After missing 2 years ofschool because of illness and requiringa home tutor, he is now back at schooland has just written his AS levels. As Isaid, he has been literally given his lifeback!!

The pump is so efficient, that wewere able to reduce Chris’s totalhydrocortisone dose after two weeks.Over time, we have been ableto continue to reduce the dose and hisCAH now is very well controlled!

The other remarkable thing is thatChris has also started to growagain, after starting on thepump. He has even gone up ashoe size and after years ofbattling weight, either being tooheavy or too thin, his weightis now stable.

Everyone is amazed atthe dramatic improvementin Chris’s health and hisappearance! The terrible dizziness andnausea he used to suffer is a thing of thepast! Chris had sinus surgery earlierthis year which he sailed through,whereas previously he was alwaysunwell after an anaesthetic. Chris’sblood pressure is now stable, his heartrate has improveddramatically, and he no longer suffersthe terrible headache that evenpainkillers would not touch. It is fair tosay that he has never felt as well in hislife as he does now he is using thepump!

Chris was at first apprehensivewhen changing the infusion site, (wherethe fine cannula enters his skin),however it is now part of his normal

continued on page 20

“In Chris’ words,the pump has givenhim back his life!!”


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Kid’s CornerHello, my name is Lillian

Nicole Kelly. I am 13-years-oldand I have salt-wasting CAH.I think sometimes it’s not

fun to have CAH, because Ihave to go to the doctor all thetime and always have to haveblood work done. Some of thekids at school don’tunderstand why I miss schoolso much.In the summer, I have to be

careful not to get too hot. Onetime when I was playingsoftball, I got too hot andpassed out. When I playbasketball, I get too hot fromrunning.I wish that all of us with

CAH would have a place to go inthe summer so we could gettogether and have time to knowmore kids our own ages withCAH. Maybe some day. I got tomeet Kelly and her daughteronce, it was great. They are sonice.

If you have a story, picture or poem toshare in our next newsletter, please send it

to [email protected].

On March 4, 2006, the Florida Family SupportGroup got togehter at Lake Seminole Park to hear guestspeaker Dorothy Shulman, M.D. and enjoy each other’scompany.

Thanks to Sonya Matson and Pat Tovar, the FloridaFamily Support Group continues to be one of CARES mostactive groups. (Way to go, FL!!!) If your support group isgetting together, please let us know!

If you’re interested in starting a support group oradvertising an event, please give us a call so we can getyou started. (toll free) 866-227-3737

LaSalle BankChicago MarathonSunday, Oct. 22, 2006

Millenium Park

For more info:www.chicagomarathon.com

Run, Josh, Run!!!CARES congratulates Josh Eisenberg on runninghis second Chicago Marathon, with over 35,000runners and 1.2 million spectators.

Josh has generously asked his sponsors to donateto CARES. If you would like to sponsor Josh,please let us know. We would also like toencourage all members living in the Chicago areato come out and support Josh on race day!

CARES thanks Ohio membersLaura Williams &Alicia Meddles

for organizing

BRYAN’S BENEFITBRYAN’S BENEFITCOUNTRY CONCERTCOUNTRY CONCERT

IN THE PARKIN THE PARK

an extremely successfulfundraiser that featured BlueGrass and Country Music by

Huckleberry BluePickin’ N’ Grinnin’

andUp “4” Grabs

The event raised $3,000 forCARES and CAH research.

Way to go, Laura and Alicia!


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News From the CARES Office

From left: Erin Anthony, Meryl Stone, Kelly Leight, Mariel Vargas and MazalWolfskehl meet in CARES’ large conference room. Our larger and brighterspace inspires our already motivated staff and finally allows us to host ourown board meetings!

Hot off the presses: Kelly Leight poses with our new Ricoh copier, providedby a generous grant from the Smart Family Foundation. The copier has beeninstrumental in getting us back on our feet, and we are forever grateful to thefoundation for allowing us the ability to purchase this essential tool.

Thank You!!!

New Offices!We are thrilled to report that we

have moved out of Kelly’s home andinto new office space. Our office is bigand bright and we look forward tofilling up the space as CARESexpands. Our new address is:

CARES Foundation, Inc.2414 Morris Ave., Suite 110

Union, NJ 07083Please note that our phone

numbers remain the same (In NJ ) 973-912-3895 and (toll free) 866-227-3737.

New Staff!We are excited to welcome two

new members to our staff, MazalWolfskehl and Jennifer MannRosenblatt.

Mazal brings extensive accountingexperience to our organization as ournew bookeeper and Jennifer adds herexperience from The ChristopherReeves Foundation and The March ofDimes as our new Director ofDevelopment.

New WebsiteWe are in the process of upgrading

our website and developing a mirrorsite in Spanish. The new site will beeasier to navigate and have a moreupdated look. This project should becompleted shortly, so please let usknow what you think!

Remember to Re-registerWe are making progress rebuilding

our database but still need your help!If you haven’t re-registered (so wehave your current address, phonenumber, email and info about yourfamily), please do so ASAP. Visitwww.caresfoundation.org and click“Join” or give us a call 866-227-3737.

2007 ConferenceBelieve it or not, we’ve already

begun planning our 2007 CAHConference. Mark your calendar forNovember 3, 2007 in Los Angeles,CA.


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Remembering a Dear Friend and Remarkable Man

We are sad to report that DavidL. Abell, a very dear friend toCARES, passed on February 11, 2006.

Mr. Abell, whose daughter Jami is amember of CARES’ Board of Trustees,was described in the LA Times as “themusic vendor to the stars” and “an angelto the community.”

Founder of David L. Abell FinePianos, Mr. Abell showed histremendous commitment to the jazzcommunity through the establishment ofseveral educational programs andscholarships in the Los Angeles area. Hewas honored in 2005 by the Friends ofJazz at UCLA with their HumanitarianAward as well as by the NAACP with itsCommunity Service Award.

Since the beginning of his

involvement with CARES, Mr. Abellwas a very generous supporter of theorganization and instrumental in thesuccess of CARES’ first majorfundraiser, the EVERY1CARESluncheon. At the request of his family,those paying tribute to David were askedto continue his legacy with donations toCARES, and the David L. AbellMemorial Fund for Research wasestablished. We continue to be touchedby the amazing generosity of David’sfriends and family.

Our thoughts continue to be with theAbell family as they look forward andcelebrate the life of a truly remarkableman. David was a great humanitarian and

friend to CARES. He will be sorelymissed by all who knew him.

CARES Welcomes New Medical AdvisorsHenry Anhalt, D.O. & Maria Vogiatzi, M.D.

CARES Foundation is pleased towelcome Drs. Henry Anhaltand Maria Vogiatzi to its medicaladvisory board.

Dr. Henry Anhalt is the Director ofthe division of pediatric endocrinologyand diabetes at the Saint BarnabasMedical Center. He is AssociateProfessor of Clinical Pediatrics at theState University of New York atDownstate Medical School, and Co-Director of the Healthy L.I.F.E. programat Saint Barnabas Medical Center, a newmulti-disciplinary obesity treatmentprogram.

Dr. Anhalt completed his post-doctoral fellowship in pediatricendocrinology at the Lucille SalterPackard Children’s Hospital at StanfordUniversity and was a recipient of the

prestigious Dean’s fellowship award.Prior to his appointment at SaintBarnabas Medical Center, Dr. Anhaltwas the Director of the division ofpediatric endocrinology at the Infantsand Children’s Hospital of Brooklyn atMaimonides Medical Center.

Dr. Anhalt’s expertise in thetreatment of childhood obesity will adddepth to the advisory board.

Dr. Maria Vogiatzi is Chief of theKomansky Center for Child Health atNewYork-Presbyterian Hospital WeillCornell Medical Center. She conductsclinical research in the areas of growth,congenital adrenal hyperplasia (CAH)and osteoporosis.

Dr. Vogiatzi received her medicaldegree from Aristotelian UniversityMedical School in Greece. She was

trained in Pediatric Endocrinology atNYPH/Cornell University and at BaylorCollege of Medicine in Houston. She isBoard Certified in both Pediatrics andPediatric Endocrinology.

Dr. Vogiatzi joined the departmentof Pediatrics at Cornell University in1997. She has great experience in thetreatment of children with short staturewho may require therapy with growthhormone, in the management of patientswith disorders of puberty, and incongenital adrenal hyperplasia. She haspublished on numerous topics inPediatric Endocrinology.

CARES Foundation is excited aboutthe addition of Dr. Anhalt and Dr.Vogiatzi to its medical advisory boardand looks forward to working withthem.


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Gabi Flaum raised money for CARES with a Snack Sale atTemple Sharey Tefilo-Israel, South Orange, New Jersey.

Thank You, Gabi!!!

Employee GivingEmployee GivingWe thank members

Stephanie GrublerDan Taylor

Mary Lynn HollyKaren WilsonLaura Shine

for designating CARES in each of theircompanies’ employee giving programs. Wealso thank all members, their friends and

families who donate through the United Wayand CFC (#2937).

We truly appreciate your support.

Bibbero is the Best!We are tremendously grateful to the wonderful people at Bibbero Systems, Inc. for choosing CARES in their

employee giving campaign. Donations from Bibbero employees are matched by the company and making a hugedifference in our ability to provide free services to the CAH community and fund research for a cure.

We are particularly grateful to Steve Hacke% for approaching Bibbero on our behalf and Dan Hacke%, Steve’s son,for educating Bibbero employees about CAH and CARES.

Of course, none of this would be possible without help of Bibbero President Mike Buckley for choosing to matchemployee donations and the Bibbero employees for choosing CARES.

Thank You!!!

On July 29, 2006 the “Blue Jeansand Sequins” Fundraiser was held at theJW Marriott Cherry Creek in Denver,Colorado.

The night included a silent auctionwith a casino as well. We raised over14,000.00 after all the expenses werepaid.

I’d like to extend a special “ThankYou” to our sponsors: Quest

Diagnostics, Belles and BeausAcademy, Tom and Kim Konkel, Tomand Tricia McCann, Chip and MelindaHunnings, and Dean and ColleenPisciotta.

We had close to 80 friends andfamily join us and we hope to doublethe numbers with our next event.

Most of all, we, the Heinze Family,would like to thank CARES for all they

do and have done for us and all the otherCARES members.

Please remember if you are in theDenver area to join us for our next eventand bring your friends! Everyone thatattended the event had a great time andwe’re sure to have an even better timenext year.

~MonicaMonica Heinze, Event Chair

Blue Jeans&Sequins aSuccess!!!


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ALABAMATonya Judson(205)[email protected] Brown(205) [email protected] May, M.D.(480) [email protected] Blucker(501) [email protected] CALIFORNIAAdria Stoner(916) [email protected] Hupp(916) [email protected] CALIFORNIAJami Abell-Patterson(818)[email protected] Cribbs(714)[email protected] Ember(818) [email protected] Adams(303) [email protected]/NEW ENGLANDLynn Torony(203) [email protected] Tovar(727) [email protected] Matson(941) [email protected] Carpentieri-Sorrows(770) [email protected] & Thomas Hopper(208) [email protected] Herst(847) [email protected] Barrett(317) [email protected] Mostaert(319) [email protected]

KENTUCKYDana Rush(502) [email protected] Burkhead(502) [email protected] Blanke(985) [email protected] & Jody Spear(207) [email protected] Wilson(612) [email protected] Murray(601) [email protected] Aycock(601) [email protected] Wanstreet(660) [email protected] Young(402) [email protected] & Jeremy Pinson(775) [email protected] Tacker(702) [email protected] Perrucci(702) [email protected] JERSEYMichelle Cascarelli(732) [email protected] Perez (Español)(973) [email protected] MEXICOBetty Herrera(505) [email protected]

UPSTATE NEW YORKDona Miller-Cameron(716) [email protected] CAROLINALouise Fleming, R.N.(919) [email protected]

NORTH CAROLINA (CONT’D)Amanda Russo(910) [email protected] Drake(614) [email protected] Phillips(440) [email protected] Kirk, R.N.(405) [email protected] Williams(580) [email protected] Wong(503) [email protected] Stipetich(412) [email protected] Thibodeaux(412) [email protected] CAROLINAJohnette & Kevin Kinard(803) [email protected] Ann Luttrell(865) [email protected] Stevens (Dallas)(817) [email protected] Taylor (Austin)(512) [email protected] Billings (Houston)(281) [email protected] Irving(801) [email protected] Chaney(802) [email protected] Pierson(757) [email protected] Lane(757) [email protected]

InternationalSupportGroupsBRAZILIsabel Wagner(552) [email protected] Weatherall(905) [email protected] Rojas(56) [email protected] Oesch(574) [email protected] Merizalde Paredes5939 982 [email protected] McPherson-Quainton331 40 27 08 [email protected] [email protected] Jacob009 93878183800 91 484 [email protected]

Sanjeev [email protected]é Villaseňor5281-8367 [email protected] Varela52 01 [email protected]

URUGUAYMariela [email protected]

WASHINGTONJennifer Butler(425) [email protected] VIRGINIAKaren Bozarth(304) [email protected] Jaskie(414) [email protected] Meier(715) [email protected]

CARES US Family Support Groups

NEW

NEWNEW

NEW

NEW


16

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have demonstrated that the elevations in17-hydroxypregnenolone and DHEApresent in hyperandrogenic women arerelatively mild, generally not exceedingtwo-fold the upper normal limit found inhealthy women. In contrast, the level of17-hydroxyprogesterone (17-OHP), theimmediate precursor to the 21-OHenzyme, is 3-fold to 10-fold greater thanthe upper normal limit in NCAHpatients. In addition, a number ofinvestigators, including ourselves, havenoted that between 25 percent and 40percent of women with the polycysticovary syndrome (PCOS), another fairlycommon cause of androgen excess inwomen, have elevated levels of DHEAand DHEA sulfate (DHEAS),suggesting that the adrenal may beoveractive in patients with PCOS, notrelated to the presence of a geneticmutation.

This data indicates that we wereover-diagnosing patients with 3β-HSDdeficient NCAH, and that many of thesewomen simply have PCOS with a hyper-reactive adrenal, similar to thehyper-reactive ovary also observed inPCOS. More recently, Dr. Songya Pangand colleagues have done very carefulgenetic studies of patients withsupposedly 3β-HSD deficient NCAHand observed that the patients who hadgenetic defects of the 3β-HSD gene had17-hydroxypregnenolone values thatwere at least 20-50 standard deviationsabove age-matched controls (at least10-fold the upper normal limit), and allof these presented in childhood. Infact, to date, there has been nopatient with 3β-HSD deficient NCAHwho presented as a hyperandrogenicadult woman. These and otherinvestigators have also observed thatthe vast majority of individuals who

have elevated or exaggerated 17-hydroxypregnenolone or DHEA valuesfollowing ACTH stimulation actuallyhave a form of PCOS and do not haveNCAH.

What is the difference? Patientswith PCOS generally have insulinresistance and, while they have a geneticbasis that underlies the disorder, thegenetic cause is a complex mixture ofvarious genes and the environment.Furthermore, the use of glucocorticoids(dexamethasone, prednisone andhydrocortisone) in patients with PCOSis generally not recommended since itcan worsen the insulin resistance.Alternatively, patients with true NCAHmay often (but not always) benefit fromglucocorticoids and should also becounseled carefully regarding theirchance of having a child who is alsoaffected with NCAH or CAH.Consequently, making and treating thetrue diagnosis that underlies a patient’s

hyperandrogenic symptoms is veryimportant.

In summary, the 3β-HSD deficientNCAH has been woefully over-diagnosed, particularly consideringmodern studies which are able todetermine whether a patient actually hasa genetic defect of the 3β-HSD gene. Infact, to date, no woman presenting withhyperandrogenism in her adulthood (oreven adolescence) has been confirmedto have 3β-HSD NCAH. The vastmajority (if not all) of women with anexaggerated (above normal) 17-hydroxypregnenolone or DHEA levelshave PCOS. This should be a relief tomany patients who are beinginappropriately treated withglucocorticoids based on older criteria.

Patients should not be surprised atthe general change in diagnostic criteriafor 3β-HSD deficient NCAH, since it isdifficult to establish the presence ofadrenal hyperplasia without propergenetic tools, only made available to usin the past decade and often only inresearch laboratories. As these genetictools become more widely available forclinical use, it is highly likely that thereported incidence of “3β-HSD deficientNCAH” (and “11-OH deficientNCAH”) will drop dramatically.

continued from page 1Overdiagnosis of 3β-HSD

Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be takento be the provision or practice of medical, nursing or professional healthcare advice or services. The information should not be considered complete orexhaustive and should not be used in place of the visit, call, consultation or advice of your physician or other healthcare provider. You should not use theinformation in this or any CARES Foundation, Inc. communication to diagnose or treat CAH or any other disorder without first consulting with your physicianor healthcare provider. The articles presented in this newsletter are for informational purposes only and do not necessarily reflect the views of CARESFoundation, Inc.

“This data“This dataindicates thatindicates thatwe were over-we were over-diagnosingdiagnosing

patients withpatients with3β-HSD deficient3β-HSD deficient

NCAH...”NCAH...”

“This should be a relief to“This should be a relief tomany patients who are beingmany patients who are beinginappropriately treated withinappropriately treated with

glucocorticoids based on olderglucocorticoids based on oldercriteria.”criteria.”


17

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Dr. Azziz is the Helping Hand of Los

Angeles Chair in Obstetrics &

Gynecology, Director of the Center for

Androgen Related Disorders, Chair of

the Department of Ob/Gyn at Cedars-

Sinai Medical Center, and Professor

and Vice-Chair in the Department of

Ob/Gyn and Professor in the

Department of Medicine at The David

Geffen School of Medicine at UCLA.

Points to RememberPoints to Remember::• The level of 17-OHP in patientswith confirmed NCAH is 3-fold to10-fold greater than the uppernormal limit.

• Patients with confirmed geneticdefects of 3β-HSD have been shownto have 17-hydroxypregnenolonevalues of at least 10-fold the uppernormal limit.

• To date, there has been no patientwith 3β-HSD NCAH who was firstdiagnosed as an adult woman withandrogen excess.

The adrenal glands are small, walnut-sizedorgans that sit on top of each kidney. Theymay be hyper-reactive in some patients withPCOS.

Controversy Update:Say Goodbye to the “I” word

In October 2005, the LawsonWilkins Pediatric EndocrineSociety (LWPES) and the EuropeanSociety for Paediatric Endocrinology(ESPE) met to review the managementof intersex disorders. The meeting wascomposed of several different workinggroups made up of 50 internationalexperts in the field. These groupsprepared prior written responses to adefined set of questions from anevidence based review of publishedreports. The result of this meeting is the“Consensus Statement on Managementof Intersex Disorders.”

As CAH is the most common causeof genital ambiguity, CARES protestedthe exclusion of a CAH-specificadvocate at this meeting (“CARESLetter to Consensus Meeting ReceivesInternational Support” Volume 5, Issue1 Winter 2006). Within the protestletter, CARES also maderecommendations about addressingissues related to: terminology,development of centers of excellence,and surgical management.

The “Consensus statement onmanagement of intersex disorders” waspublished in Archives of Disease inChildhood in April 2006. Of particularinterest to the CAH community are therecommendations made aboutnomenclature, multidisciplinary careand surgical management.Nomenclature

The working group agreed withCARES and other patient advocacygroups that the word “intersex” andother arcane classifications are“…perceived as potentially pejorativeby patients, and can be confusing topractitioners and parents alike.” Instead,the LWPES/ESPE group proposes theterm “disorders of sex development”(DSD), defined by congenitalconditions in which development ofchromosomal, gonadal, or anatomicalsex is atypical.Multidisciplinary Care

The consensus statement alsostresses the need for a multidisciplinaryapproach when caring for a child with a

DSD. According to the consensusstatement, the team should include“paediatric subspecialists inendocrinology, surgery or urology orboth, psychology/psychiatry,gynaecology, genetics, neonatology,and, if available, social work, nursing,and medical ethics.” In addition torecognizing that this team has aresponsibility to educate other healthcare staff in the appropriate initialmanagement of affected newborninfants and their families, the consensusstatement also recognizes the importantrole support groups have in the deliveryof care to DSD patients and theirfamilies.Surgical Management

In alignment with the consensusstatement on Congenital adrenalhyperplasia, this consensus statementasserts that only surgeons with expertisein the care of children and specifictraining in the surgery of DSD shouldundertake these surgeries. Accordingmembers of LWPES/ESPE, parents

continued on page 22

continued from page 17


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Update on Newborn Screening

Over the past several months,huge strides forward havebeen made in the area of newbornscreening; though, of course, there stillis a great deal of work to be done.Victories

In the United States, only threestates now remain that do not test forCAH. As announced in May 30, 2006,letter from the Louisiana department ofhealth(http://www.dhh.louisiana.gov/offices/miscdocs/docs-263/EXPANDED.SCR.LETTER.5.30.06.pdf), the state expanded testing to 27conditions, including CAH, effectiveAugust 1, 2006. Special thanks go outto members across the state that assistedCARES in both our advocacy andmedia-based efforts there.Advocacy Continues

Advocacy work continues inArkansas, Kansas and West Virginia.Thanks to the efforts of CARESmember Gail Blucker in Arkansas,CARES is actively involved in effortsto expand newborn screening. Allbranches of government have agreed onthe need to expand and to include CAH

in all of those plans. CARES has placedthe leaders of this effort in contact withseveral experts in the field of CAHnewborn testing to make sure Arkansascreates an efficient and effective testingprogram.Stumbling Block

The stumbling block, it appears, isfunding for follow-up. When an infantcomes back with a positive result, thestate needs to have people and systemsin place to inform the physician of thepositive test result, conductconfirmatory testing and make sure thefamily gets the support and servicesthey need. CARES is collaboratingwith the Arkansas Department ofHealth, March of Dimes, Easter Sealsand other stakeholders in the state toencourage the crafting of legislation tomandate universal, comprehensivescreening that is properly funded.Please contact legislators across thestate www.arkleg.state.ar.us to ensuretheir support of expanded newbornscreening.Outside the US

Outside of the United States,momentum is building in the area of

newborn screening. In early 2006,expanded newborn screening, includingtesting for CAH, began in Russia. InMay, Canada celebrated the opening ofan expanded newborn screening centerat Children’s Hospital of EasternOntario (CHEO). With a commitmentof $7 million per year, the governmentwill implement comprehensive testingfor 27 disorders, including CAH, by theend of this year. As of July 1st,financial coverage of expanded infanttesting including screening for CAHbegan in Taiwan. At the Sheba MedicalCenter in Israel, universal,comprehensive testing will soon begin.

Louisiana Gets On Board (Listen Up Arkansas, Kansas and West Virginia!)Gretchen Alger Lin

If you live in one of the 3 states thatdoes not test for CAH and would liketo help advocate for comprehensiveNewborn Screening, please feel free

to email Gretchen,[email protected] .

Fund Research While You Shop!!!Shop Online at iGive.com and Help Us Find a Cure

CARES Foundation, Inc. is a registered member of iGive. At the mall at www.igive.com you canshop over 600 stores and help CARES at the same time. There is no cost or obligation to join, anda percentage of your purchase is donated to CARES. To Designate CARES as your charity ofchoice, search the keywords: CARES, CAH or congenital adrenal hyperplasia. Since 2005, CAREShas awarded over $150,000 for research. Please help us keep it up!

Shop, Shop, Shop!


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In the News. . .Genetic NondiscriminationCampaign Gains Momentum

The campaign for protection fromgenetic discrimination continues.Please add your voice in support of theGenetic Information NondiscriminationAct of 2005 (H.R.1227)! To learn moreabout this legislation and how you canhelp build support for it, visit:http://www.geneticfairness.org/act.html.

Stem Cell Bills BlockedHR 810: The Stem Cell ResearchEnhancement Act of 2005

July 18, 2006 marked passage bythe Senate of The Stem Cell ResearchEnhancement Act of 2005 and alsospurred the President’s first veto.

HR 810 would have eliminated therestrictions the President put into effectfive-years-ago, which limited the use offederal money to embryonic stem celllines created before August 9, 2001.Supporters say the current bill wouldhave increased the number of stem celllines available for scientific embryonicstem cell research.

However, scientists have said thebill would have continued to preventthe use of federal money to create newcell lines if it involved the destructionof embryos as well as preventing the use

of federal money to create stem cells fortherapeutic cloning.

Supporters of the bill have said it isessential for the productive continuationof embryonic stem cell research thatnew cell lines be open for use. Becausethese older lines were grown usinganimal cells or serum, they hold thepossibility of being unsuitable for use asmedical therapy. In addition, some ofthese cells accumulate geneticabnormalities over time, making themhard to use even for simple research.Santorum bill (S. 2754):A bill to derive human pluripotent stemcell lines using techniques that do notknowingly harm embryos

Overlooked in the hype about thePresdient's veto of HR 810 was S.2754(the Santorum Bill), intended to directNIH funding to research studying howto derive human pluripotent stem celllines using techniques that do notknowingly harm embryos.

On July 18, the Senate passed thisbill unanimously and turned the billover to the House for its firstconsideration, where it failed to pass.There is currently a motion to suspendthe rules and pass the bill failed byYeahs and Nays (2/3 required). The billis cosponsored by Senators Richard

Burr (NC), James M. Inhofe (OK),Arlen Specter (PA), Susan M. Collins(ME) and Jeff Sessions (AL).

Chem Div, Yale Receive Phase IINIH GrantResearch to Focus on Development ofNovel Drugs for the Treatment OfAdrenal Gland DisordersSAN DIEGO and NEW HAVEN,Conn., Aug. 30 /PRNewswire/ —

ChemDiv, Inc. and Yale Universityhave announced that they have beenawarded a joint Phase II NIH grant tofurther develop small moleculeinhibitors of the G-protein coupledreceptor, melanocortin-2 receptor(MC2R). ChemDiv will be responsiblefor medicinal chemistry optimization ofthe lead molecules using a panel of invitro biochemical and cell-based assays,while the Yale scientists will performthe in depth follow-up studies on themode of action of the discovered hits,with the ultimate goal being thedevelopment of effective drugs to treatcongenital virilizing adrenal hyperplasia(CAH) and Cushing’s diseases inchildren.

Use GoodSearch and Raise Money for CARESDid you know that you can raise money for CARES every time you search the Internet?

GoodSearch.com is a search engine that donates half its revenue, about a penny per search, to the charities itsusers designate. GoodSearch is powered by Yahoo and can be used like any search engine.

Visit GoodSearch.com and designate CARES as your charity of choice.Whenever you search the Internet, use GoodSearch.com or, even better, make GoodSearch.com your homepageand download the GoodSeach toolbar at http://www.goodsearch.com/toolbar/ .

Thank you!


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nt

f

ders

f

routine. It does take effort anddiscipline, which would make itunsuitable for people who arenoncompliant with taking medication.Chris prefers wearing the pump totaking medication several times a day.(I suspect that it is also because he nowfeels so much better!) He also developslumps under the sites, which I have beenassured by a dermatologist will cause noproblems; I believe this happens withsome diabetics too.

As his mum, it is also reassuring toknow that he is getting a programmedamount of hydrocortisone every day, aswe don’t have to worry about misseddoses! The pump also has a bolusbutton so that Chris can self-administerextra hydrocortisone if he starts to feelunwell. The pump allows you to switchto double dose or triple dose so that,even in sickness, you know that themedication is going into the body.Before the pump, Chris would have to

be admitted to hospital if he wasvomiting as the tablets would not havebeen absorbed.

When we need to fine tune the dosesit can be done precisely, with no worriesabout trying to cut quarter tablets.Another big plus factor with the usingthe pump, is that Chris has been able toprogram it with different rates fordifferent situations. For example, duringhis exam period, with Prof Hindmarsh’shelp, we worked out a special rate toenable Chris to have morehydrocortisone during the most stressfulperiods of the day.

The pump may not be suitable forall children with CAH but I am sopleased and grateful for how it hashelped Chris. I am sure it will have asecure place as a new treatment for CAHfor those who need it! I am alsoindebted to Professor Hindmarsh for histime interest and hard work he has putinto developing this method and for

helping Chris and extend a special“Thank you” to Sinead Bryan, Chris’sendocrine nurse, for her unfalteringsupport, encouragement and help.

CAH Chat GroupsCAH Chat GroupsClassical Women’s Group: A place for women with classical CAH to talk about the issues thataffect them. To join, send an email to http://health.groups.yahoo.com/group/classicalwomen/.

CAHSisters2: A place for adult women with late-onset CAH. To learn more about this group, go tohttp://groups.yahoo.com/group/CAHSISTERS2.

CARES Teen Chat Group: A place for teens with CAH to talk about feelings, questions, and lifeexperiences with CAH. To join, go to:http://health.groups.yahoo.com/group/caresteenchat1 and click on“Join this Group.”

CARES Spanish Group: A Yahoo Group for the Spanish-speaking CAHcommunity. To learn more and join, go tohttp://mx.groups.yahoo.com/group/hiperplasia/

Greek CAH Groups: Places for Greek speaking families and individualsaffected by CAH. To learn more and join, visithttp://groups.yahoo.com/group/cahgreece and http://groups.msn.com/cahgreece .

Chris celebrates his 18th birthday.He has been using a pump todeliver a continuous infusion ofhydrocortisone for management ofhis CAH.


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Clinical Trials

CAH Study at the University of North CarolinaChapel Hill

Karen Jane Loechner, M.D./Ph.D.We are recruiting children with CAH who are 4-12 years

old (bone age


22

© 2006

CAH Volunteers Needed for Natural History Study

We are currently recruiting patients of all ages withCAH (both classic and nonclassic) for a natural historystudy at the National Institutes of Health (NIH) inBethesda, Maryland. By studying the natural history ofCAH in a large population of patients, we hope to definenew aspects of the disease. This will allow us to developnew management and treatment approaches.Participants will be seen as outpatients at the NIHClinical Center in Bethesda, Maryland and may be seenonce, twice, or for ongoing care. Patients seen for alimited number of visits will have a full report sent totheir private physician.

All testing is free of charge and will include:

•Genotyping (patientswith21-Hydroxylasedeficiencyonly)

• Hormonalevaluationincludingevaluationforinsulinresistance

• Psychological and cognitive testing

• Bone age (growing children) andultrasound

For more information or to volunteer, please contactCarol VanRyzin at the NIH at (301) 451-0399.

Principal Investigator: Dr. Deborah Merke, M.DPediatric Endocrinologist

Chief of Pediatric ServicesNational Institutes of Health Clinical Center

Bethesda, Maryland

This research is funded in part by grants from CARES Foundation, Inc. If you would like moreinformation, or to speak with individuals who have participated in the Natural History Study, please call (toll free)

866-227-3737.

seem to be less inclined to choosesurgery for less severe clitoromegaly.The group is firm that clitoral surgeryshould only be considered in cases ofsevere virilization (Prader III and up)and should be carried out in conjunctionwith repair of the common urogenitalsinus when appropriate. According tothe consensus, “Emphasis is onfunctional outcome rather than a strictlycosmetic appearance.” Additionally, thegroup recognizes that surgicalreconstruction in infancy may need tobe refined at the time of puberty andthat vaginal dilatation should not beundertaken before puberty.The Need for Better Data

While the Consensus statement onmanagement of intersex disorders isfairly comprehensive, the authorscontinually highlight the need for better

long-term outcome data than iscurrently available. Within this data isa tremendous need for information onquality of life which, according to theauthors, encompasses falling in love,dating, attraction, ability to developintimate relationships, sexualfunctioning, and the opportunity tomarry and raise children, regardless ofbiological indicators of sex. To thatend, the report urges health care staff tooffer adolescent patients the opportunityto talk confidentially without theirparents as well as to encourageparticipation in support groups so thatthey may discuss their concernscomfortably.

If you would like more informationon any of the issues discussed here,please call (toll free) 866-227-3737.

continued from page 17Controversy Update Flu Season Tips

CARES reminds all its members toget their Flu vaccinations early(eitherby injection or nasal mist). Childrenand adults with CAH require specialcare during illness and the vaccinationis a good first line of defense.

Please remember to check theexpiration date on all Solu-Cortef Act-O-Vials. All householdsshould check their Solu-Cortefprescriptions and ask for newprescriptions if necessary. Back toschool means time for cold and fluseason Don’t be caught without yourSolu-Cortef!

If you would like a copy of CARES’Emergency Instructions, pleasecall(toll free) 866-227-3737 or [email protected].

23

2006 CARES CAH ConferenceJubilee Hall, Seton Hall University

South Orange, NJSunday, November 12, 2006

8:30am-5pm

Cost: There is no charge to attendthis event, but your tax-deductibledonation is greatly appreciated.

Accomodations: Marriott CourtyardWest Orange $89/night, 1-800-321-2211 to request group codeCFGCFGA. This discounted rate isavailable on a first-come, first-servebasis. Please reserve your room byOct.11th to receive this rate.

Travel: Newark International Airportis approximately 8 miles from theMarriott Courtyard West Orange(http://www.panynj.gov/CommutingTravel/airports/html/newarkliberty.html).Those traveling by Amtrak should useNewark-Penn Station. The closesttrain station to Seton Hall is SouthOrange (MorristownLine/GladstoneBranch)(http://www.njtransit.com/rg/rg_servlet.srv).***Financial assistance for travel tothe conference is available on a

case-by-case basis.Please call or email for details.

Directions: Seton Hall University islocated in South Orange, NJ at 400South Orange Ave and is convenientto Rt. 78, the New Jersey Turnpikeand the Garden State Parkway. Fordirections to the university, pleasevisit www.shu.edu/visiting. Fordirections to the Marriott CourtyardWest Orange, please visithttp://marriott.com/property/mapandnearbyairports/default.mi?marshaCode=ewrwo.

Henry Anhalt, D.O. (host) Division Director, Pediatric EndocrinologySt. Barnabas Medical Center, Livingston, NJ

Susan Baker, Ph.D. PsychoendocrinologistMount Sinai Medical Center, New York, NY

Linda Burkett, R.N. Pediatric Endocrine NurseChildren’s Hospital of Los Angeles, CA

Patti Criswell, A.C.S.W. Certified Clinical Social Worker, AuthorKalamazoo, MI

Meg Keil, CPNP Pediatric Endocrine Nurse PractitionerNational Institutes of Health, Bethesda, MD

Sheri Berenbaum, Ph.D Professor of Psychology and PediatricsThe Pennsylvania State University, PA

Deborah Merke, M.D. Chief of Pediatric ServicesNational Institutes of Health, Bethesda, MD

Dix P. Poppas, M.D. Chief, Institute for Pediatric UrologyChildren’s Hospital of New York-Presbyterian/Weill Cornell, NY, NY

Scott Rivkees, M.D. Chief, Section of Developmental Endocrinolgy & BiologyYale University School of Medicine, CT

Richard Ross, M.D. Professor of EndocrinologyUniversity of Sheffield, United Kingdom

Phyllis Speiser, M.D. Director of Pediatric EndocrinologyNorth Shore Long Island Jewish Health System, NY

Carol VanRyzin, CPNP Endocrine Nurse PractitionerNational Institutes of Health, Bethesda, MD

Maria Vogiatzi, M.D. Chief, Pediatric EndocrinologistChildren’s Hospital of New York-Presbyterian/ Weill Cornell, NY, NY

Topics Include:• New Advancements in CAH Treatment & Future Trends in Research• Research Roundtable• Behavioral & Psychological Aspects of CAH• Monitoring & Treatment of CAH/NCAH• Weight Management Issues with CAH• Pregnancy & Reproduction in CAH/NCAH• Surgical Reconstruction in CAH• Transition to Adult Care & Adult Healthcare Issues• Panel Discussion: Adults with CAH/NCAH...and much more!

2006 CARESCAH

Conference

“bringing the CAH community together”

This program is supported in partthrough grants from:

Centers forDiseaseControlandPrevention (CDC)

Registration FormRSVP by October 29th

Mail: CARES Foundation, Inc., 2414 Morris Ave, Suite 110, Union, NJ 07083E-mail: [email protected] or [email protected]

Fax: 973-912-8990Name:_________________________________________________________Address:_______________________________________________________City:___________________________State:________Zipcode:____________E-mail:_________________________HomePhone:_____________________Work Phone:____________________Cell phone:_______________________How many adults and older children will be attending the conference?_______How many young children will need childcare?(please indicate age) ________

improving health . . . connecting people . . . saving lives

© 2006 CARES Foundation, Inc.

CARES Foundation, Inc.2414 Morris Ave., Suite 110

Union, NJ 07083

Have you recently moved, changed your phonenumber or email?

Please make sure to let us know!

Thank You

This newsletter has been generously sponsored by

The Institute for Pediatric UrologyCornell University

We are truly grateful for their long standing and continuedcommitment to the CAH community.

For information on sponsoring an upcoming issue of the CARESnewsletter, please call (toll free) 866-227-3737.

EVERY1CARES bracelet salescontinue to rise thanks to thededication of our members.Bracelets are available in Adult andYouth Sizes for $3 each (minimumorder of 5, plus shipping &handling).

To order:call (toll free) 866-227-3737

or order onlinewww.caresfoundation.org

you’reinvited!...volume5 issue2 fall2006 inthisissue peregrine grant pg3 celebrating fiveyearsof...

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