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AWARENESS
INDIANRETTSYNDROMEFOUNDATION
128,VikasKunj,VikasPuri,NewDelhi–110018.INDIA
Tel:9999343421,9810331197,9313651603Email:[email protected],[email protected]
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
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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.
