AWARENESS

INDIANRETTSYNDROMEFOUNDATION

128,VikasKunj,VikasPuri,NewDelhi–110018.INDIA

Tel:9999343421,9810331197,9313651603Email:info.reJ@yahoo.com,hm@irsf.inwww.irsf.inandwww.re7syndrome.in

IRSF

•  Tocounsel&educatefamilies&doctorsonthemanagementofRe5syndrome.

•  Touniteandhelpparents,families,caregivers,friends,peoplewithRe5andprofessionalsbycrea=ngastrong,suppor=vecommunitybysharinginforma=on,newsandresearchaboutRe5syndrome.

•  TohelpinimprovingthequalityoflifewithallthoseaffectedwithRe5syndromebyprovidingsupport,informa=on,servicesandprac=calhelprequiredbythefamilieslivinginIndia

•  ToraisepublicandprofessionalawarenessandunderstandingofRe5Syndromebycollec=ngandprovidingcorrectinforma=ondescribingdiagnosis,causes,therapies,researchandotheraspectsofthisdisorder

•  Distribu=onofeduca=onalmaterialaboutRe5syndrometofamilies,Doctorsandthegeneralpublic.

•  Medicalreimbursementstoneedyfamilies.

HowyoucanHelp•  KnowaboutReJSyndromeandtellothersand

helpustospreadtheawareness.•  VolunteerduringourmeeSngsandevents.•  Helpuscontactaffectedfamiliesandbring

smilesontheirfaces.•  Spreadawarenesstoyourlocaldoctorsand

hospitals.•  SponsoraChild’streatmentortherapy.•  DonaSonstoIRSFareexemptedfromincome

taxunderSec80G.DonateinCashorCheque.

KNOWRETT,VOLUNTEER,DONATE

OurbankDetailsareasunder:IndianRe7SyndromeFoundaGon

STATEBANKOFINDIA,Saketbranch.Accountno:31265890239IFSCCode:SBIN0008442

HistoryofIRSFDr.RajniKhajuriawasthefirsttostartresearchworkonReJsyndromeinIndiaasapartofherPh.DThesisin2005undertheguidanceofDr.MadhulikaKabraatDept.ofPediatrics,AIIMS.

ShewasthebridgebetweenallparentsandshebecametheanchorforallReJsyndromeworkinIndia.Eventodaya_erhavingcompletedherthesis,sheisacSvelyinvolvedinthisnoblecause.SheconSnuestoinspireallparentsalongwithIRSFteam.IRSFwasformallyregisteredasaTrustinDelhion27thJanuary2010.IthasFourTrustees,FourofficebearersandSevenexecuSvemembers.AllparentsandadultsiblingsofaReJchildareeligibletobepartofIRSFteamandcanhelptospreadawareness.WeacSvelyappealtoparentsfromalloverIndiatoparScipateinourcommoncause.

MilestonesofIRSFu  IRSFhasconductedawarenessinalmostallmajorgovt.hospitals

inDelhiregionsince2008.u  EstablisheditselfasthesoleTrustinIndiaworkingonthecauseof

ReJSyndrome.u  CoordinaSngforclinicaltrialsinIndia.u  Gatheringparentsfromalloverthecountryandgivingthemhope.u  ReJclinicwasestablishedatAiimsexclusivelyforReJsyndrome.u  EmergencysupporttoparentsduringSOSepisodes.u  InaposiSontoreimbursemedicaSoncoststopoorparentsand

providingwheelchairs.u  ProvidingdisabilitycerSficatestomostparentsbyinteracSngwith

concernedhealthauthoriSes.u  ProvidingHealthinsurancetomostparentsthroughNirmaya

schemeinNaSonalTrustofIndia.u  Knibngcloselyallfamiliesbyorganisingevents,picnics,meeSngs

wheretheygetanopportunitytointeractwithanextendedfamily.

u  PublicizingthecauseofReJsyndromeintheTVmediaandprintmedia.

u  MakingrepresentaSonsintheministryofsocialwelfareandjusSceandalsotheDelhiStateGovt.

u  ProvidingandextendingrehabilitaSonaidstochildrenspecifictotheirneeds.

ShealwayswantedtodosomethingforthepaSentcare,sowhiledoingherresearchsheputforththeideaofformingaparentsupportgroupwithherguideandparents,whereparentscaneasilyapproachtogetallkindofsupport.HerideawaswelcomedbyherguideandthreeReJfamilieswhocameforwardtolendhersupportinhercause.SheorganizedthefirsttwoReJawarenesseventsfortheparentsanddoctorsinyear2008and2009withsupportofDept.OfPediatrics

isRETTSYNDROME?ReJsyndromeisarareneurodevelopmentdisorderthatoccursalmostexclusivelyingirlsandleadstosevereimpairments,affecGngchild’sabilitytospeak,walk,eat,andevenbreatheeasily.ThehallmarkofReJsyndromeisnearconstantrepeGGvehandmovementswhileawake.

ReJ syndrome symptoms appear a_er an earlyperiod of apparently normal or near normaldevelopmentunSlsixtoeighteenmonthsoflife,whenthereisaslowingdownorstagnaSonofskills.Thenthereisregressionphasewherethechild loses communicaSon skills and purposefuluseofherhands.OverSme,motorproblemsmay increase,but ingeneral, irritability lessens and eye contact andcommunicaGonimprove.

doesitaffectandhowitprogresses?

isitcommonlyfound?ReJ syndrome affect all racial and ethnic groups,andoccursworldwidein1ofevery10,000femalebirths.Itisnothereditaryeither.

ReJ syndrome girls have stereotyped handmovements such as hand-washing, hand-mouthing, wringing, tapping, gait disturbances,and slowing of the normal rate of head growthbecomeapparent.Otherissuesmayincludeseizuresanddisorganizedbreathingpa7ernswhensheisawake.In the early years, there may be a period ofisolaGon orwithdrawalwhen she is irritable andcriesinconsolably.ItisnotadegeneraSvedisorder.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay !!

u  Development may be normal or mildly delayed during first 6-18 months. There is a distinct loss of child’s milestones after 18 to 24 months.

u  Loss of purposeful hand, repetitive hand movements like hand tapping, mouthing, washing, wringing and clapping.

u  Slowed head growth, lack of speech. u  Shakiness or rocking of upper torso. u  Erratic breathing, breath holding problems. u  Chewing, swallowing and digestion problems. u  Ability to walk is either impaired or lost. u  Irregular sleeping patterns. u  Spinal curvature (though not early in age). u  Rigid or low muscle tone, joint contractures. u  Seizures, Abnormal EEG pattern. u  Teeth grinding, Cold small hands and feet.

toknowitisRETTSYNDROME?

The diagnosis of Rett syndrome is made on the basis of established clinical criteria:

doesRETTSYNDROMEhappen?

ReJsyndromeiscausedbysporadicmutaSonsontheX chromosome on a gene called MECP2. There aremore than 200 different mutaSons found on theMECP2 gene.Most of thesemutaSons are found ineightdifferent“hotspots.”The course and severity of ReJ syndrome isdeterminedby the locaSon, typeand severityof themutaSonandX-inacSvaSon.EachReJgirlisuniqueinherownway.

SymptomsofRe7syndromecanrangefrommildtosevere.Therefore,twogirlsofthesameagewiththesamemutaSoncanappearquitedifferent.

DespitetheirchallengesReJGirlsarehappychildren.TheirsmileisaJracSveandtheyunderstandthelovegiventothem.ThisisthereasontheyarecalledSilentAngelsallovertheworld.

AlwaysLovethem.Acceptthemastheyare.

Girls with ReJ syndrome need 24X7 assistanceand care. There are therapies/treatments whichare required for the long term care of childrenwith ReJ Syndrome and have been found toimprovethelifeoftheseAngels.Thisincludes:Ø  Physiotherapy, OccupaGonal therapy, Speech

therapy, Hydrotherapy, Hippotherapy, Musictherapyetc.

Ø  Early Diagnosis and early intervenGon isnecessarytoretainchild’smilestones.

Ø  SymptomaGc relief medicaGon for problemslikeseizures,breathingissues,insomniaetc.

Ø  SpecialDietsfordigesSonandconsSpaSon.