nonclassic adrenal hyperplasia

2414 Morris Avenue, Suite 110Union, NJ 07083

In New Jersey: 973-912-3895 Toll Free:1-866-CARES37

Fax: 973-912-8990Email: [email protected]: www.caresfoundation.org

Volume 10 • Spring 2009

Article continued on page 8

Improving health...connecting people...saving lives

1© CARES Foundation, Inc. Spring 2009

CARES Foundation’s

Continuing Medical

Education Workshop

for physicians is

scheduled

for June 9, 2009

in Washington, DC.

To register,

please visit

www.CARESfoundation.org

EpidemiologyNonclassic CAH (NCAH) owing to 21-hydroxylase deficiency is quite common, ranging fromabout 1 in 30 among Ashkenazi (Eastern European) Jews to 1 in 1,000 non-Jewish Caucasiansof mixed ethnicity affected with NCAH. In comparison, the classic or severe forms of CAHoccur in about 1 in 10,000 to 1 in 15,000 live births from direct newborn screening. Thisreview will concentrate on NCAH caused by 21-hydroxylase deficiency.

Hormone profileThe gold standard for distinguishing 21-hydroxylase deficiency from other enzyme defectsis the ACTH stimulation test. There are no age-related differences in the criteria for thediagnosis of 21-hydroxylase deficiency, except in low birth weight or premature infants,who tend to have higher stress-induced hormone levels, often leading to false positivenewborn screening test results. The severity of hormonal abnormalities depends on thetype of 21-hydroxylase deficiency. Among patients with classic salt-wasting CAH, 17-hydroxyprogesterone levels typically exceed 20,000 ng/dl (600 nmol/l), even without ACTHstimulation. In contrast, patients with NCAH have lower ACTH-stimulated levels of thishormone ranging from 1,500 to 10,000 ng/dl before glucocorticoid treatment. Non-salt-wasting, simple virilizing classic CAH may exhibit intermediate hormone levels. Your doctorwill put together the hormone test results with the clinical symptoms to decide which typeof CAH you/your child has. Some patients, however, cannot readily be characterized as fittinginto one of these three categories.

Random blood measurements of basal serum 17-hydroxyprogesteroneare often normal in patients with NCAH, unless performed in the early

morning (i.e., before 8:00am).Interestingly, infants do not

See page 7 for moreinformation.

Attention Non-runners!

The Annual No-Sweat Run

for a Cure is back!

NonClassic Adrenal Hyperplasia

Phyllis W. Speiser

2 © CARES Foundation, Inc. Spring 2009

A Message from the Acting Executive DirectorIN THIS ISSUE

CAH Article 1, 8-9Nonclassic Adrenal Hyperplasia

Message from the Acting Executive Director 2

Everyone Cares Gala 3

Founders, Board, Staff 3

Fundraising 4, 7

When Ashlyn Turned Five 4

Thanks to the Ward Family 4

Harleyween Ride 4

No Sweat Run for a Cure 7

Personal Story 5-7

Life Building...Surviving and Thriving with CAH

Advocacy 10-12

EMS Update 10

Newborn Screening Debate 10-11

Mabuhay CAHSAPI! 11-12

What Does the Economic 12Stimulus Package Mean to You?

Support Group 12

© 2009 CARES Foundation, Inc. All rightsreserved. Republication or redistributionof CARES newsletter content, includingby framing or similar means, is prohibitedwithout prior written consent of CARESFoundation, Inc.

Dear Friends,Spring has sprungand CARES is look-ing forward to allthe wonderful eventscoming up.

The Everyone CARESGala was a great

success that was enjoyed by all whoattended and now we’re moving forwardto our other exciting plans. Read on to seewhat we’ve got coming up. There’ssomething for everyone!

Everyone CARES GalaIn March, CARES Foundation honored Dr.Dix Poppas and Pfizer for theircontributions to CARES and CAH. The Galawas a great success! Your contributions,ticket and silent auction purchases arehelping to support all of our wonderfulprograms. Visit our photo gallery in theOur Community section of ourwebsite for photos of the event.

No-Sweat Run for a CureIt’s that time again! The Annual No-SweatRun for a Cure is back! So, let’s all NOTlace up our sneakers for another successfulnon-run! See page 7 for more informationon No-Sweat and how to form a team.

CME WorkshopCARES Foundation’s first ever continuingmedical education (CME) workshop isscheduled for June 9, 2009 in Washington,DC. The workshop is for physicianeducation and will last a full day. The mainfocus of the workshop is on CAHthroughout the lifespan with informationon other adrenal disorders as well. Our co-sponsor for the workshop is The Universityof Texas Southwestern Medical Center.Please don’t forget to tell your doctorsabout this opportunity as time is runningshort to register. To register, please visitwww.CARESfoundation.org.

Family ConferenceThe CARES Family Conference isscheduled for Sunday, November 1, 2009and will take place at the College of St.Elizabeth in Madison, NJ. Planning isunderway and more information will becoming soon. We look forward to seeingyou there!

EMS UpdateThe response from the CARESCommunity in relation to our emergencymedical response for adrenal insufficiencyinitiative has been absolutely over-whelming. We have received emails ofinterest from CARES Foundationmembers across the country as well asthose affected with other adrenalinsufficiencies such as Addison’s Diseaseand hypopituitarism thanks to the effortsof our advocacy partners, NationalAdrenal Diseases Foundation (NADF) andPituitary Network Association. Clearlythis is something that is very important tothe entire adrenal insufficient communityand we look forward to the day we cansay immediate, appropriate emergencymedical treatment of adrenal insufficiencyis available throughout the United States.

Personal StoriesMany of our newsletters have includedinspirational personal stories about livingwith CAH. You may remember the oneabout our race car driver from the lastissue. It would be really wonderful if wewere able to include a personal CAH storyin each and every newsletter, so I’minviting you to tell yours. If you’d like toshare your experience, please send yourstory, with a picture or two, to me [email protected]. I lookforward to reading your story!All my best,

Suzanne


FOUNDERSKelly and Adam Leight

Staff & ConsultantsSuzanne R. Levy, Acting Executive [email protected]

Meryl I. Stone,Chief Operating [email protected]

Dina M. Matos, [email protected]

Mazal Wolfskehl, [email protected]

Odaly Roche, Administrative [email protected]

Camela Cruz, [email protected]

Gretchen Alger Lin, Public [email protected]

Stephanie Erb, Parent/Family [email protected]

BOARD OF TRUSTEESGregory Kraff, PresidentVictoria Shenderovich, Vice PresidentVivian Altman Quintanilla, TreasurerStephanie R. Fracassa, SecretaryDeborah Brown, R.N.Louise Fleming, R.N.Monica L. HeinzeTonya Judson, R.N.Kelly Rosso Leight, Esq., President EmeritusAlan MacyStephen MaebiusJodi MandellCatherine PetersonKarthik RadhakrishnanDiane Snyder, M.D.Daniel TaylorJessica Hall UpchurchMichael P. Wajnrajch, M.D.

SCIENTIFIC & MEDICALADVISORY BOARDHenry Anhalt, D.O.Richard J. Auchus, M.D., Ph.D.Ricardo Azziz, M.D.Susan W. Baker, Ph.D.Sheri A. Berenbaum, Ph.D.Felix A. Conte, M.D.Alejandro Diaz, M.D.Walter Futterweit, M.D.Mitchell E. Geffner, M.D.Karen J. Loechner, M.D., Ph.D.Claude Migeon, M.D.Walter L. Miller, M.D.Maria I. New, M.D.Sharon E. Oberfield, M.D.Dix P. Poppas, M.D.Richard C. Rink, M.D.Scott A. Rivkees, M.D.Richard Ross, M.D.David E. Sandberg, Ph.DEllen Seely, M.D.Phyllis W. Speiser, M.D.Bradford L. Therrell, Ph.D.Maria Vogiatzi, M.D.Garry Warne, M.D.Selma Feldman Witchel, M.D.

This newsletter is published 4 times a year.

More than 130 friends and supportersjoined CARES Foundation members andstaff at the Everyone CARES Gala in NewYork City on March 18th. Pfizer, Inc. and

Dr. Dix Poppas, Professor and Chief of the Institute for Pediatric Urologyat the Komansky Center for Children’s Health of New York PresbyterianHospital-Weill Cornell Medical Center were honored for their invaluablecontributions to the CAH community. Dr. Poppas was presented withthe Visionary Award for his work in treating young patients affected byCAH. Dr. Michael Berelowitz received the Corporate Partner Award onbehalf of Pfizer for its work to find new treatments to improve the livesof CAH patients. The honorees were lauded not only for their expertise,but for the compassion they have demonstrated in their work with CAHpatients. The honorees were joined by family, friends and colleagues.

Gregory Kraff, president of CARESFoundation’s Board of Trustees,thanked the crowd for their supportand urged them to continue to helpCARES provide valuable services tothe CAH community in all 50 statesand 60 countries worldwide. Heasked supporters to join CARES on itsnext crusade to ensure that EMSpersonnel have the proper trainingand medicine to provide care forpatients with adrenal insufficienciesin a crisis situation.

Guests enjoyed cocktails, dinner and avideo presentation on CAH andCARES, as well as a silent auctionconsisting of sports memorabilia,jewelry, tickets to sporting events andother goodies. The event provided anopportunity for CAH patients,affected families and professionalswho are committed to helpingimprove the quality of life for thoseliving with the disease to cometogether—many for the first time—toshare stories of challenges andtriumphs, as well as their hopes anddreams for a cure. The event raisedmore than $50,000 for CAHeducation and research.

EveryoneCARES Gala

Left to right: Kelly Leight, Founder, Dr. DixPoppas, Pediatric Urologist, VisionaryAward recipient, Greg Kraff, CARES BoardPresident

Left to right: Kelly Leight, Founder, MichaelBerelowitz, Senior Vice President, ClinicalDevelopment and Medical Affairs,accepting Corporate Partner Award forPfizer, Inc., Greg Kraff, CARES Board

President

4

FUNDRAISING

© CARES Foundation, Inc. Spring 2009

The Harleyween Ride for CARES is a 90-mile scenic ride and Poker Run from Water Witch Fire Co. Station

7-2 Port Deposit, Maryland to Chesapeake Harley Davidson in Darlington, Maryland to raise money in supportof CARES Foundation’s mission. There will be music, food, 50-50, door prizes and a raffle. Registration formsmust be submitted by July 31, 2009. For more information, please call Debbie Ham at 443-553-5781 or

e-mail [email protected].

When AshlynTurned Five

When Ashlyn Kinard turned 5-years-old recently, she decided,

very generously, to donate all $200 of her birthday money

to CARES Foundation. Thank you, Ashlyn,

for being so selfless and thinking about others

on your birthday!

Thanks to the Ward Family!Many thanks to the Ward Family for their CARESFoundation family fundraiser! They made and soldBuckeye necklaces, bracelets and key chains during theOhio State football season. The entire family (kids,parents and grandparents) helped out by “hunting” forBuckeyes or drilling the holes in the Buckeyes. TheBuckeyes were sold in the front window of the doctor’soffice where Lisa Ward works and the whole staff helpedout. Thanks, again, to the entire Ward family: Lisa, Ty,Olivia and Zach.

Join Us for the Harleyween Ride for CARES

Help CARES raise funds by participating in a family fundraiser, forming a No-Sweat team,or planning your own event. Funding is critical to ensuring the future of programs andservices available to CAH families.


PERSONAL STORIES

5

I was born with a raredisease called CongenitalAdrenal Hyperplasia. Atthe time of my birth, itwas very rare so mostpeople had never heardof it. I was originallymisdiagnosed as havingsevere allergies and senton my way home. Afterthree years of living lifesick, and 15 doctors whocould find nothing wrongwith me, my motherfinally succeeded: shefound a doctor with ananswer! After a series oftests, during which Isuffered three adrenalcrises, the doctor foundthe answer. She recommended a doctor who wasstarting research programs at the Children’sHospital in St. Petersburg, FL. In this researchprogram I used the hormone therapy Buserelin,which is used for people diagnosedwith prostate cancer, for my CAH. Thismeant lengths of time in the hospitalwith constant blood draws and othertests. At the same time the Buserelinwas started, they put me on the “drugsof life” for people who suffer what Isuffer: Hydrocortisone and Fludro-cortisone. These two drugs will be apart of my life until I die. Sometimesit’s hard to admit to yourself that youneed to depend on pills or any kind of medicationto keep you alive because it’s hard to think abouthow fragile you are. Eventually, most days on themedication become “just life” for you and you don’tthink twice about it, but like everything else, somedays it just gets old. You wonder if you can dowithout them. Then, after your brief venture intononsense, you remember, if I do not take them, itwill be all over.

Eventually, we moved and my mother swore shewouldn’t put me on another research grant, if shecould find me a new treatment. She had seenenough of me being treated like a lab rat. Lookingback, I was treated like a circus freak most of thetime. The research I was part of was published in

medical journals. I thinkshe just had enough. So,she followed up at theChildren’s Hospital nearour new home, butfound nothing promising.She then tried theUCONN Medical Center,where she found adoctor who would treatme without any moreresearch protocols. Iwas put on a newinjection that was to betaken monthly, asopposed to daily. So, Istarted Lupron for mynew therapy. I was onthat until my late teens,when finally I was only

on the daily pills that have been, and will be, a permanent part ofmy life.

Now, with all these therapies and treatments, including theterminal use of Corticosteroids, I began togain weight. If anyone reading this hasever been treated for asthma or used aninhaler and noticed a sudden increase inappetite, it is from the corticosteroids theycontain, so you know what I mean. I wasstarving, every day, all day. I could nevereat enough to feel satisfied. Now, I do notblame all the weight I gained on mymedicine. I could have shown more self-control, but I have to tell you, taking

medicines that mess with your brain and your stomach is notsuch an easy thing to deal with or to control. All of my life, everydoctor has always said “we need to get that weight off of you”and my mother has always sort of said “yeah, right, you try that.”Did I mention I was a grumpy little jerk most of the time? I slowlyate my way up to 295 pounds. That’s right, five foot six inches andtwo hundred ninety-five pounds. I couldn’t take it anymore. I didn’t like what I saw when I looked in a mirror or how I felt. I decided to drop some pounds.

I joined a gym attempting to train, but in my ignorance, I more orless starved myself. I wasn’t eating much and I definitely wasn’tgoing about it the right way, but in the end I lost 100 pounds. Igot comments and compliments about how I looked and waseven asked what I was doing. Though they all saw a great change

Life Building…Surviving andThriving with CAH

By Ian Kauffman

continued on page 6


Personal Story continued

in me, I still wasn’t happy. I was weaker than ever andso tired all the time. In the end, I gave in and ate. Ididn’t eat right since I was still lacking knowledgeabout nutrition. I gained back about 50lbs, mostly infat. Eventually, I got my first trainer.

My trainer taught me a lot about lifting and form. Shepushed me really hard with the programs she set up,and I learned a lot from her. Just when I started to getgoing on the road to a new and improved way of life,she left the gym where I was training. I kept at it. Istarted training with two people that eventuallybecame my friends and for a full year we pushed eachother. Finally, even though my diet wasn’t great, thingswere happening. I was dropping fat, super slowly, butit was happening at least. During this time, I went tosee my current endocrinologist. I was curious aboutthe skin and fat that seemed a permanent hurdle Icould never overcome. I asked if it would ever goaway. I was told then that the only way to get rid ofsome of the weight was to have plastic surgery. I wasshocked, and upset. It was just one more thing to addto my worries. I went and got a consultation done bya recommended surgeon, and he too told me the samething. I didn’t want to believe them, so I put it on thebackburner for over a year. Eventually, work and othercommitments got in our way, and we had a hard timegetting together to lift. And to make things worse, thegym we were all at was starting to lose its shine in oureyes. They left first, and tried other gyms. Shortly after,I left too.

I started a new way at a new gym. It was there my lifewould really take a major turn. After months andmonths of fighting to improve my health and wellbeing, a road block would present itself. It was aFriday night in the winter of 2006. I was cominghome from work and my stomach started to get reallyupset. I tried to ignore it, but it wouldn’t stop. I wasat home with my parents, having just suffered a break-up and a herniated disc. Anyway, stress is deadly to mebecause my body can’t handle it. Suddenly, I wasthrowing up uncontrollably. My mother ran and gotme some water and some cranberry juice. I wasstarting to feel weak and tired. It had been years sinceI had my last adrenal crisis, and I had just started toeducate myself some more on my condition. I had noidea what was going on, or how close I would come tolosing it all. Things started to get hazy, and I had beenbasically vomiting for hours. I finally asked my motherto read up on the details of an adrenal crisis. A fewminutes later, she came running upstairs, shook me

awake and told me to get up or they were going to call anambulance. I wanted to go to the hospital where myendocrinologist was, but the ambulance would only take meto the nearest hospital, without a choice. So the fight againstmy own body began. I asked for my shoes and help to sit up.I slowly got dressed and slid my shoes on. I had gotten soweak and dehydrated that I could barely walk. I started myslow and painful trip down three flights of steps. I stoppedon the first landing to sit and rest after only five steps. I satat my father’s desk on the second floor. I went to thebathroom to throw some cold water on my face, as I was sohot by this point. As I stood in front of the mirror, my eyesbarely open, I noticed I had turned a gray color. I almostlooked like a corpse. I got to the first floor and I sat on thelast step to rest. Meanwhile, there was a snowstorm goingon outside. It was like mother nature was out to get me thatnight. My father tried to pull his van around, but the snowwas too deep, so he had to switch to my truck. I took my lastbreath, stood up, and did my best to charge my way out tothe car. In all, it took me about 30 minutes to get down allthose steps, all the while one phrase echoed in my head “getup and move or you are going to die.” I basically got shovedinto the back of my truck. My parents had brought a bucketand blanket for me. I was falling in and out of sleep whiletrying my best to fight it all off. At this point, all I could thinkabout was how thirsty I felt and how weak I was. We finallypull up to my hospital’s ER, my mother runs in and grabs awheelchair for me, I crawl out of the back and basically fallinto the chair. We rush inside, I get pushed up to the counter.My stupid pride back then kept me from having a life alertnecklace of any kind, so when they tried to talk to me, Icould only say “thirsty, tired.” My mother sat down andstarted answering every question they threw at us. All Icould do was beg for water. Eventually I got a cup of ice tochew on, but it was never enough. They put me in a roomafter only a few minutes. I was shivering uncontrollably sothey had to put seven heated blankets on me to get that tostop. The nurses told my mother my temperature was 103.9,my heart rate was through the ceiling, and my bloodpressure was through the floor. My parents took turnsyelling at the doctor, explaining that I needed ahydrocortisone shot, but she swore it was a bad virus,nothing more. After hours of this arguing, they finally gaveme my shot, and changed my saline over to sugared saline. Iwas so dehydrated that it took hours of IV liquids to get meback to somewhat normal. All night I would fall asleep forfive to ten minutes, but it would seem like days. I swore Iwas done, but I survived. I eventually got home, but it tookme 5 days to get back to my normal self. This is just one ofmy survival stories, but you know all I could think about wasgetting healthy and getting back into the gym to continue

Spring 2009© CARES Foundation, Inc.

Ready, Set, Go….

The 2009 No Sweat Run for a Curelaunched on May 8th and will run throughSeptember 14th. This virtual run provides anopportunity for CARES members andsupporters to raise both awareness of CAH andfunds to advance CARES’ mission. And you don’teven have to break a sweat!

To compete in our annual No Sweat Run for aCure, form a team and ask your friends,colleagues and neighbors to join it. The goal isto raise as much money as you possibly can.Prizes will be awarded to the teams raising themost money and those with the largest numberof participants.

Donating is easy. We provide you with manyways to reach out to your friends. We will sendyou No Sweat invitations to mail out or you canset up your own No Sweat team page withKintera, an online fundraising site. You set upyour team page, encourage others to donate toit and then you can track your team’s progress.

This is a wonderful opportunity to engage yourchildren in raising funds for CAH research.Encourage them to form teams with friends andclassmates. They can organize an event, such asa car wash, basketball game, lemonade stand,etc. to raise money for their team.

Your family and friends can celebrate a specialoccasion such as a birthday, bar or bat mitzvah,anniversary, etc. in the life of a loved one bycontributing to No Sweat Run for a Cure.

my journey. Eventually, I was back on my feet and training harderthan ever.

After months of doing my own research and asking advice frompeople who knew better than I did, I met someone. She is just asdriven as I am. She knew more about nutrition, and I knew moreabout the weights which made us a great team. We startedtraining together and from there we developed a relationshipoutside the gym. We provided support and motivation to oneanother, but when she noticed that my body was not shaping upthe way she expected I had to explain my situation to her. Shesupported me in going through the plastic surgery, and evenstayed at my side while I recovered. Now, understand, I did thissurgery as a last resort. It took me over a year to decide to do this.Besides money, I was concerned that with my condition, I couldhonestly die. Luckily, when I decided to do it, the surgeon myendocrinologist had recommended knew about my condition.Even better, the day of the surgery, the anesthesiology nurse saidhe knew about it as well, having just been to a seminar aboutCAH, so I felt a lot safer. It cost me out of my own pocket, eventhough what I had done was clearly a direct effect of both myCAH and my medicine’s side effects. If you ask me, personally,having experienced the surgery myself, it is not a shortcut.Overall, I only lost 10lbs from the surgery. It hopefully addedsome years to my life, and it has taken some strain off of my body.While I was healing I focused on writing my program for when Icould return to the gym. I continued to heal, and slowly workedmy way back into training, starting with muscle groups that couldbe worked without fear of tearing or hurting my abs as theyfinished healing. Eventually, I was going full bore again, andloving it. Working out is my lifestyle, I love it and live for it. Iwould go on to lose another 15lbs after the surgery. I had finallygotten to a point where I could try to bulk for the first time. So,I turned to bodybuilding.com to look around some more, as Iusually did. This time I saw something, an advertisement for freetraining. So, I decided to try it. I signed up with Team Scivation,and started my first bulk.

Eventually, I became tired of your basic fitness center. I wantedmore. I wanted to be surrounded by like minded people. So, Iwent searching for a new gym. I found a trainer there, a naturalworld champion: Luis Santiago, and under his guidance and withthe support of my friends over at Team Scivation, I have beenimproving more and more with every week. I have been trainingthere for about two months now, and show no signs of slowingor stopping.

Contact Ian—[email protected]

www.bodybuilding.com/fun/male_transformation_ian_kauffman.htm

Free Diet and Nutritional Help—www.TeamScivation.com

To learn more or to sign up, pleasecontact: [email protected].

7

Help us meet our goal of $85,000.Every “step” counts!


Article continued from page 1

exhibit day-time variations in adrenalcortical hormone levels at birth, butdevelop this pattern within the firstyear of life. Although newbornscreening programs have detected veryfew NCAH infants, test sensitivity andspecificity may improve as morescreening programs shift to newerdiagnostic methods. Other hormonesthat are usually elevated in 21-hydroxylase deficiency includeprogesterone, androstenedione and, toa lesser extent, testosterone.

Clinical ManifestationsMild or nonclassic CAH may beasymptomatic or associated with signsindicative of postnatal androgen (malehormone) excess. Typically, femaleinfants with mild forms of CAH do nothave genital ambiguity.

As a consequence of the variableadrenal androgen excess, some affectedchildren grow rapidly or have advancedbone age, and some prematurelydevelop pubic or axillary hair (pubarche).It is important to rule out NCAH in anychild who has unusually early andrapidly progressive signs of puberty,e.g., a growth spurt, acne, or excessfacial or body hair. Despite advancedbone age in some children with NCAH,the average adult height attained is wellwithin the normal range for mostchildren with this mild condition.

At adolescence, females are moreobviously affected than males, and maydevelop distressing features ofandrogen excess, such as progression offacial and body hair growth (hirsutism)and acne. Infrequent menstrual periods,common in many adolescent girls, maybe more severe in NCAH. Hirsutism ismost common (found in approximately60% of cases at diagnosis), followed byinfrequent menstrual periods (54%) andacne (33%).

It should be noted that these non-specific signs of androgen excess arealso associated with the even moreprevalent polycystic ovarian syndrome.Moreover, women from certain ethnicgroups are more prone to excess bodyand facial hair. Thus, as with the earlyappearance of pubic hair in children,not all women with androgenicsymptoms have NCAH as the cause.

Reproductive problems are morecommon in NCAH women than in thegeneral population. Women desiringfertility should seek treatment from areproductive endocrinologist; conceptionis possible without hormone therapy,but if this does not occur, simpletreatment is available. Although there isno sex partiality for CAH, males are notreadily detected with androgen excessafter childhood. During adolescence,

young men are most often diagnosedbecause a family member is known tobe affected. Low sperm count andinfertility have been described,although less often than in classic CAH.Testicular adrenal rests, commonamong classic CAH boys and men, havenot been reported in NCAH men,perhaps because of low rates ofscreening.

Natural HistoryThe natural history of this common,mild form of CAH is not preciselyknown. A few NCAH cases are detectedby newborn screening programs, butmost are missed because of therelatively low baseline levels of 17-hydroxyprogesterone. It is not knownwhat proportion of cases ascertained inthis manner eventually becomesymptomatic. At present, the consensusamong pediatric endocrinologists isthat healthy asymptomatic newbornswith minimally elevated 17OHP levelsdo not require hydrocortisone treat-ment, but should be closely followed.

Based on retrospective family studies,many subjects with genetic andhormonal traits diagnostic of NCAHnever seek medical attention forandrogen excess. Indeed, a substantialproportion of affected people withNCAH have experienced normalgrowth, puberty and reproductionwithout glucocorticoid treatment. Inone survey, 68% of 203 pregnanciesoccurred before the mother’s diagnosisof NCAH. Also of interest is the variableseverity of androgen excess and the ageat presentation. There are no publishedreports of death, or even acute adrenalinsufficiency, attributed to NCAH. Inlight of these observations, cliniciansshould not equate NCAH with moresevere forms of the disease whencounseling families. It is unclear why

Despiteadvanced boneage in somechildren withNCAH, theaverage adultheight attainedis well within thenormal rangefor most childrenwith this mildcondition.


some affected individuals show signs ofandrogen excess and others do not.

The risk of a parent with NCAHproducing offspring affected withclassic forms of CAH is estimated atabout 2-3%. About 15% of children bornto mothers with NCAH are similarlyaffected.

TreatmentThere is currently no strong evidenceto suggest that preventive earlyglucocorticoid treatment of asymptomaticor mildly symptomatic NCAH childrenis superior to watchful waiting in termsof long-term outcomes with respect togrowth, fertility, or related metabolicconditions. Low dose glucocorticoidtreatment should be reserved forchildren with early onset and rapidprogression of pubic and body hair,growth, and/or skeletal age. Treatmentshould not be instituted merely forelevated hormone levels. Similarly, inadults, hormone treatment should bereserved for women who suffer fromsymptoms of androgen excess notreadily remedied by other methods.Infrequent menstrual periods arereadily responsive to glucocorticoidtreatment. In contrast, patients withextensive hirsutism should be awarethat glucocorticoid therapy alone willnot instantly improve their condition;additional treatment with lasers,electrolysis, depilatories or othertherapies may also be needed.

In children, the preferred drug ishydrocortisone. The dose must beindividualized and carefully monitored.Children should also have an annualbone age x-ray. Statural growth andgrowth rates should be graphed on ageand gender appropriate charts to makesure that growth is neither too slow nor

too fast. The therapeutic goal is to usethe lowest glucocorticoid dose thatadequately suppresses adrenal androgensand maintains normal growth andweight gain.

Once growth is complete or nearlycomplete, adolescents and adults maybe treated with prednisone or

dexamethasone (dex). Patients on long-acting glucocorticoids like prednisoneand dex should be monitored carefullyfor signs of medically-induced CushingSyndrome, such as rapid weight gain,high blood pressure, pigmented skinstretch marks, and fragile bones,although these problems are typicallyquite rare among appropriatelymonitored patients with CAH.

Individuals who are affected withNCAH, but have never beensymptomatic or treated with gluco-

corticoids, have no requirement forstress dosing.

Stress doses of hydrocortisone arerecommended for glucocorticoid-treated NCAH patients who undergosurgery requiring general anesthesia orcritical illness. It is assumed that suchpatients have medical partial adrenalcortical suppression owing to long-termglucocorticoid therapy. Patients ontreatment should carry a prescriptionfrom their endocrinologist foremergencies, in case they need to betreated away from their home hospital.The patient’s family members should begiven a supply of injectable hydro-cortisone and instructions forappropriate emergency use at the startof oral glucocorticoid maintenancetherapy. Conventional wisdom is thatfor a child in adrenal crisis, infants andtoddlers receive 25 mg by intra-muscular injection, school-age children50 mg, and adolescents and adults up to100 mg. The patient should be taken foremergency medical evaluation andfurther treatment, including continuedintravenous hydrocortisone every 6hours during critical illness. When theacute illness resolves, usually within 48hours, the dose can be rapidly taperedto maintenance doses.

ConclusionsNonclassic CAH is a mild condition thatshould not be regarded as a life-threatening medical condition, nor isuniversal glucocorticoid treatmentrequired. Rather, each case must becarefully evaluated for the relative riskversus benefit to aggressive treatmentor observation.

9

Nonclassic CAH is a mildcondition thatshould not beregarded as alife-threateningmedicalcondition...

Advocacy


EMS Campaign UpdateWe have made great strides in our EMS for AdrenalInsufficiency Campaign over the past several months,including having had the opportunity to present our appealdirectly to the NYS EMS medical advisory board (SEMAC) inearly March. Subsequent to this presentation we wereinvited to appear before the Emergency Medical Servicesfor Children (EMSC) Advisory Committee. We believe theywill recommend to SEMAC training in adrenal crisisresponse for all EMTs in NY as well as expansion of existingprotocols for treatment of shock to include glucocorticoidtreatment for adrenal insufficiency. SEMAC will be votingon our appeal in June. Special thanks to members DebbieBrown, Nancy Ginsberg and Dr. Susan Stred who have beenworking tirelessly on this campaign in New York.

Even more exciting, in Nevada our appeal has made it allthe way to protocol development. Special thanks goes outto Drs. Alan Rice, Rola Saad and Lewis Morrow, GretchenAlger Lin, and Julie Tacker and family who have providedvital testimony as well as letters of support from CARESFoundation and National Adrenal Diseases Foundationmembers, the Pituitary Network Association and AmericanAssociation of Clinical Endocrinologists (AACE)—NevadaChapter.

Our efforts are being noticed at the national level as well.CARES Foundation and this campaign were featured in theWinter issue of the Emergency Medical Services forChildren (EMSC) Family Advocacy Network (FAN)newsletter (http://www.childrensnational.org/files/ PDF/EMSC/ForFamilies/FAN_Mail_Winter_2009.pdf)distributed nationwide.

Finally, two CARES Foundation family members have beenconfirmed as presenters before an audience of EMSproviders, EMSC Coordinators and Program Managers,family representatives, physicians, nurses, grant managers,and many connected with the EMSC program at thenational EMSC conference to be held in Washington, D.C.this coming June. From each state, three representativesare required to attend this meeting; EMSC programmanager, State family representatives, and the principalinvestigators of the grant (usually the State EMS Director).

If you are interested in adding your voice to that of CARESFoundation and our family and healthcare professionalmembers in either New York or Nevada, or learning moreabout initiative planning in your own state, please contactGretchen Alger Lin at gretchen @cares foundation .org.

Over the past decade, CARES Foundation has foughttirelessly for expanded newborn screening includingtesting for CAH across America and around the world. Asof 2008, we were able to celebrate the fact that every childborn in the United States is tested for CAH at birth. Thisdoes not mean, however, that our work in this arena isdone. With every state facing budget shortfalls, newbornscreening programs throughout the country are beingscrutinized. In Georgia, lab hours were cut back to fivedays-a-week from six. In Utah, the government discussedincreasing newborn screening fees, but vowed theeconomic crisis would not affect its newborn screeningprogram otherwise. CARES Foundation continues tomonitor programs across the country and looks forwardto your continued support of universal, mandatoryscreening.

Simultaneously, the debate over newborn screeningprogram blood spot storage has moved from Minnesota toTexas and beyond. As noted in a recent article entitled,Science Gold Mine, Ethical Minefield, by Jennifer Couzin-Frankel and published in the April 10, 2009, issue ofScience, “In Minnesota, a group promoting confidentialityin health care has been engaged in a 6-year battle with thestate legislature and the courts over whether its newbornscreening program violates privacy by storing anddisseminating samples. Last month, a civil rights groupsued the state of Texas, charging that its screening programis unconstitutional because it stores samples long-termwithout obtaining informed consent.” Minnesotalegislators are now considering a bill (HF1341/SF1478)

Newborn Screening Blood Spot Debate Heats Up


Advocacy

that will maintain a strong newbornscreening program, while also steppingup parent and provider educationregarding the storage of blood spots.The Texas lawsuit has resulted inlegislation (HB 1672/ SB 2421)requiring full disclosure to parentsregarding the storage and potential useof these blood samples as well asproviding parents with the opportunity

to limit the use of this genetic materialor request the complete destructionthereof.

What is done with the drops of bloodobtained for newborn screening varieswidely from state to state and countryto country. In some, filter papers aredestroyed within a year of screeningand others, such as California, samples

are being stored for more than twodecades. Couzin-Frankel writes, “Thisgrowing treasure trove of samples iscatching the attention of researchers,who are turning to them to studyeverything from the origins ofchildhood leukemia to toxin exposuresin utero and the development of abetter, more accurate CAH newbornscreen.”

A Message from CAHSAPIPresident Alain Benedict YapCAHSAPI. The term is a wordplay on the Filipino word, kasapiwhich means 'being a member or part of' and an acronym forCAH Support and Advocacy in the Philippine Islands.

I don't remember the exact circumstance when I chancedupon that word but I definitely believed that Filipino parentsdealing with CAH needed to group ourselves together. Out ofwork to commit ourselves to caring directly for our daughter,my wife and I were blessed for the support from family andfriends that came our way. Many times, we have relied ononline information to help calm our fears and make the rightdecisions. We have seen and felt true dedication from ourdoctors and even from persons we've just met. Because ofthis, we also felt that we need to do our share to help otherfamilies, however small our parts may be. We've come toaccept that dealing with CAH isn't just a family matter but onethat required us to live as true caring Filipinos.

CAHSAPI not only supports around 80 CAH patients already—most of them kids of Filipino families who barely have enoughresources to meet the day’s basic needs—but in a greatersense, a lifeline. Through the group, members are able toreceive the medicines at a subsidized cost through the regulardonations by CLAN represented by Kate Hansen. Other thanthe CAH information from booklets made available tomembers, the group derives a lot from the experiences shared

among them from concerns about surgery, crisesinterventions, and parenting. Currently, we hold pocketmeetings every quarter and conduct a general assemblyonce a year.

CAHSAPI, along with the doctors at PGH (Phil GenHospital), is working for drug registration forhydrocortisone and fluodrocortisone, both of which are notavailable nor commercially-approved for sale in thePhilippines.

CAHSAPI: Ang pangalang ito ay hango sa salitang 'kasapi'na nag kahulugan ay 'pagiging miyembro o kasama' atbukod dito ang mga binuong mga letra ay maari dinmangahulugan ng 'CAH Support and Advocacy in thePhilippine Islands'.

Limot ko na kung paano sumagi sa isip ko ang salitang iyonngunit lubos ang aking paniniwala na kailangan magsama-sama kaming mga magulang na Pilipino upang matugunanang aming mga problemang dulot ng CAH. Kaming mag-asawa ay sabay na iniwan ang aming mga trabaho paratumutok maalagaan mabuti ang aming anak na sanggolnuon at malaki ang utang namin sa mga tulong na mula saaming mga kapamilya at kaibigan. Maraming beses rin naang mga impormasyon na mula sa 'internet' ay sya naminggabay sa pagde-desisyon at upang mapanatag ang amingmga loob. Amin ring nadama ang pagmamalasakit ng amingmga duktor at maging mga taong panandalian pa lang

CARES Foundation is pleased and honored to announce CAH Support and Advocacy in the Philippine Islands (CAHSAPI) hasjoined our list of international support groups. Established through the joint effort of the Philippine Society of PediatricMetabolism and Endocrinology (PSPME), Section of Pediatric Endocrinology, University of the Philippines-Philippine GeneralHospital (UP-PGH), CARES sister organization CLAN of Australia, and devoted families in the Philippines, CAHSAPI has beenproviding invaluable support to individuals affected by CAH and their families across the Philippines since 2005. We lookforward to a mutually rewarding relationship dedicated to improving health, connecting people and saving lives in thePhilippines and providing much needed support to Filipino families affected by CAH around the globe.

Mabuhay CAHSAPI!

Article continued on page 12

2009 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES newsletter content, including by framing or similar means, is prohibited without prior written consent of CARES Foundation

Disclaimer: Any communication from CARES Foundation, Inc. is intended for informational and educational purposes only and in no way should be taken tobe 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.

2009 CARES Foundation, Inc. All rights reserved. Republication or redistribution of CARES newsletter content, including by framing or similar means, isprohibited without prior written consent of CARES Foundation.


Advocacy continued

Oklahoma Support GroupAn Oklahoma support group meeting took place last month.Fifteen patients and family members attended as well as a localendocrinologist, Dr. Chalmers, and a CAH nurse, Traci Schaeffer.Their discussions included 504 plans and working with the school,different ways to ensure kids get enough salt, and some confusingparts of stress dosing. The CARES newsletter and camp packetswere handed out. Children were kept busy in another room withgames and arts & crafts.

The next meeting will be in Tulsa, OK on Saturday, August 8, 2009.Please contact Traci at 405-271-8001 x43043 or e-mail

[email protected] if you’re interested in attending.

Please remember that CARESFoundation has “Gone Green” andthat our newsletters are now onlyavailable electronically. Please make surewe have your most current e-mail addressand contact information to ensure thatyou receive newsletters and otherimportant information from CARES. Sendyour updated information to Odaly Rocheat Odaly@caresfoundation.

naming nakilala at nabuo sa aming pag-iisip na ang CAHay hindi lamang isang suliranin pang- pamilya ngunit isa nanagangailangan na kami ay magbahagi ng aming buhaybilang mga nagmamalasakit na mga Pilipino.

Ang CAHSAPI ay nagbibigay tulong sa may humigitkumulang na (80) walumpung miyembro na, karamihandito ay mga batang galing sa mga mahirap na pamilya nahirap na matugunan ang kanilang pang araw araw ngpangangailangan. Dahil sa samahan, ang mga miyembro aynakakabili ng murang gamot sa tulong ng donasyon namula sa CLAN sa pamumuno ni Kate Hansen. Bukod samga pampletang ipinamamahagi tungkol sa CAH,importante din ang dulot sa mga kasapi ng mgapagbabahagi ng karansan tungkol sa siruhiya, pag-tugon sakrisis at maging sa mga payong pang-magulang. Sa ngayon,maroon kaming maliit na pagpupulong tuwing ika tatlongbuwan at nagdaraos ng isang malaking pagtitipon kadataon.

Ang CAHSAPI, gayun man ang mga duktor na aming gabaymula sa PGH ay nag tutulong lakarin ang rehistro para samga gamot na hydrocortisone at fluodrocortisone, naparehong hindi matatagpuan o ipinagbibili sa mga lokal nabotika.

What Does the Economic StimulusPackage Mean to You? As many of our families tell us, the challenge of getting medicalcoverage for a chronic disease such as CAH is often frustratingand extremely stressful. With recession in the United States,rising unemployment and increasing healthcare costs, what isalready a tough situation has become even worse. Among theprovisions of “The American Recovery and Reinvestment Act of2009” is premium subsidies for COBRA continuation coveragefor unemployed workers. Through this act, workers who havebeen involuntarily terminated can receive assistance to coverup to 65% of the cost of COBRA continuation premiums for upto 9 months. To qualify for this premium subsidy, you must beinvoluntarily terminated between September 1, 2008 andDecember 31, 2009. To learn more about this and otherprovisions designed to assist families and unemployed workers,see page 15 of the act’s “Full Summary” at http://finance.senate.gov/press/Bpress/2009press/prb 021209.pdf.

Additionally, the act provides $10 billion to the NationalInstitutes of Health for medical research, $19 billion for healthinformation technology including the adoption of electronicmedical records, and $1.1 billion for comparative effectivenessresearch.

nonclassic adrenal hyperplasia

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