Mother finds support through nonprofit for daughter with rare genetic disorder

MOREHEAD,Ky.(LEX18)—Emilia“Emi”Josephloveslookingthroughbooks,catchingbubbles,andspendingtimewithhermother,KelseyJoseph.ButwhenEmiwasanewborn,hermothernoticedsomethingwasn’taddingup. “Ithinkshewas3monthsoldwhenwefirststartednoticingherheadgrowthwasn’tprogressing,”Josephsaid. JosephtookEmitogetcheckedout,butanswersdidn’tnaturallycome.Twoyearslater,afterseveraltests,doctorswereabletogiveaproperdiagnosis. “Ididn’tknowwhatCASKwasuntilitaffectedmyhome,”Josephsaid. EmiwasdiagnosedwithararegeneticdisorderrelatedtotheCASKgene.It’saneurologicaldiseasethataffectsthegeneresponsibleforbraindevelopmentandfunction.Symptomscanincludedevelopmentaldelays,disabilities,andseizures. TherevelationcausedJosephalotofstress.Withlimitedmedicalinformationandnotknowingwhat’snext,shefeltstressed.SoshewentonlineandscrolledthroughFacebook,findingseveralCASKsupportgroup