| الوصف: |
The diagnosis of a rare disorder is dependent on the clinician’sparticular knowledge and experience, and can be challengingwhen the presentation of the disorder is variable [Zurynski et al.,2008; Fehr et al., 2010]. Under- or misdiagnosis commonlyoccurs and there can be long time lags between the family’s firstconcerns and the formal diagnosis [Fehr et al., 2011]. When adiagnosis is received, families have a clearer understanding oftheir child’s condition and can then participate in a greaterlevelofplanningforcurrentandfutureneeds.Intheaccompanyingpaper, the diagnostic journeys of families in China who have adaughter with Rett syndrome were found to be complexand challenging [Lim et al., 2012]. Such scenarios can occurelsewhere in the world. This paper illustrates the experiences ofone of us (MK) in the search for a diagnosis for her daughter inAustralia.‘‘Nearly 10 years ago, my life took an extraordinary turn whenIbecameamotherforthefirsttimeattheageof31years.Iwas,andI guess I still am, the type of person who needs everything to beperfectand running accordingto plan.Ihad allthe testsexpectantmums usually haveand Iadmitthat Iused to bethe person sayingthatifIwereevertohaveachildwithsomesortofbirthdefectthatI didn’t think I’d be able to cope. At the time, my own fatherwas deteriorating and succumbing to the symptoms of a rareneurological disorder called Progressive Supra Nuclear Palsy(PSP or Steele Richardson syndrome), which eventually claimedhis life within 4 years of diagnosis.My daughter was almost 2 years of age when my fatherpassed away, and at that time I knew there was somethingnot quite right with her development, so my search for answersbegan. My daughter had been diagnosed with having GlobalDevelopmental Delay. After having seen what my mother hadendured nursing my father through illness, the thought ofraising a child with a disability or illness was, quite literally,gut wrenching. However, my father always taught me that‘‘knowledgeispower’’’andasIhadnoideawithwhatIwasdealingat the time, how, without knowing what was happening to her,could I offer my child what she needed? Global DevelopmentalDelay was simply not an answer I could accept and I figured thatif I was never going to find out what was wrong, it wouldn’t befor lack of trying.My daughter was eventually diagnosed with the neurologicaldisorder Rettsyndromeamonth afterher 3rdbirthday.Forover ayearpriortodiagnosis,shehadbeentestedforarangeofgeneticandmetabolicdisordersthatIjustknewshedidn’thave.Unfortunately,at the time, specialists we consulted were not up to date with thevariancesofclinicalsymptomsingirlssufferingwithRettsyndromeand they were persistent in looking to other disorders for answers.I would like to tell you our story.Mydaughterhadinitiallybeenaveryplacidbabyandsheseemedto progress well in that she began speaking and clapping hands ondemandfromwhenshewasjust3monthsold,however,bythetimeshe was 6 months we had noticed she was physically delayed. Shedidn’t sit up competently on her own until she was 12 months.She never crawled conventionally, instead she bottom shuffled tomove around. She didn’t bear weight until she was 13 months andthen there was the constant hand mouthing that has been presentthroughout her life.We’d had several appointments with pediatricians and healthnurses who kept assuring us how it’s most common for largerbabies to be physically delayed. Then, one day she wouldn’t talkor repeat words as she had done every other day. At first Ithought |