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Emma's Story

 

Emma was born via caesarean section.  After the birth she had to be resuscitated and stay in the intensive care unit for a few weeks.

 

After a month Emma had genetic testing but the results were slow to come, and after three months of waiting for the results came back inconclusive.  Geneticists made a lucky guess by way of Emma’s symptoms and features and decided at 10 months that she had OHDO syndrome, which was tested again more specifically since it is a mutation on a specific gene. It became real just a few months ago when test results came back positive for OHDO syndrome.

 

Emma is developmentally delayed in most of the milestones, her relation with the environment is very distant and not engaging which makes life even harder since she only settles when being held. Emma’s main issue at the moment is with feeding, which means that she is very under weight for her age. There is also the matter of medication, which involves medical transportation from selected areas in Australia.  This means a lot of time and patience waiting for Emma to get the access to the medication she needs. 

 

As a child with OHDO syndrome, Emma needs access to doctors, medical assessments, occupational therapy, and dieticians, even at this early stage in her diagnosis. We have been able to access early intervention programs that will help Emma to reach her full potential, but she can only be seen once a month. Because of the shortage in services Emma is becoming more and more behind in her developmental growth. We want Emma to have access to a safe environment where she can grow and learn.