Emma's Story

Emma’s Story by Laura Loyola

Emma is a gorgeous happy girl that loves everything and everyone. She is 8.5 years old and non-verbal, but this hasn’t stopped her from making friends wherever she goes or stealing hearts of people that see her in the community. 

Emma’s start in life was difficult not just because of her medical issues, but mainly because she for so long never belonged to a category. She fell through the cracks of the medical system, of government funding and in the community, by not having a diagnosis until she was 1.5 years old. The doctors, nurses and community dismissed her. Everything was always inconclusive, and we had more questions than answers. 

Emma was born in Canberra in 2014 through a C-section. She was stuck and was pulled using forceps. Immediately Emma presented difficulties breathing and she was very floppy, so she was rushed to the ICU and the doctors knew straight away something wasn’t quite right. They did all the typical exams, and everything was within the normal parameters, however she was not able to suck and had to be feel by a NG tube. 

We finally got to go home since there was nothing the doctors could do for us in hospital. The follow ups with the paediatrician confirmed that our baby was not developing according to the typical parameters, so we decided to move to Melbourne to follow up with the Royal Children’s and Monash. So, 6 months after Emma’s birth we left everything behind to go live in a room in our cousin’s house in Pakenham. 

After millions of train rides, appointments with different specialists and uncountable hospital emergency rides, we finally received an appointment with Monash genetics. Emma finally received a diagnosis at the age of 1.5 years old and by that time she was unable to eat orally, she had so many respiratory issues and was very delayed in every aspect of her motor and fine skills. However, we never gave up on her, even in the darkest moments in hospital. When the doctors told us she would never walk or talk, we pushed her to be her very own best, and she has surprised us every day with her own way of doing things at her own time. The hope to belong somewhere was not yet fulfilled until Emma was diagnosed with ODHO Syndrome, a rare syndrome which is a mutation of the KAT6b gene that was only recorded in 200 people around the world. Five of them were in Australia. So sadly, the journey of the unknown was still going.

Every time we would go to a doctor appointment, I had to explain what the syndrome was and what the implications were. It was so rare that no one had every heard about it. No matter what she was going through, she was always wearing her beautiful, sweet smile and was always happy. Her life was going through procedures, therapies, doctors’ appointments, etc.

Today Emma has defeated every single odd and she is able to walk and communicate with sign language and say her name. She has no more issues eating and she has been discharged of every single specialist she has ever had. 

Emma inspired her mother (me, Laura Loyola) to write a fairy tale that shows how our differences make us unique and beautiful and that our “disabilities” give us superpowers. Every child deserves to feel connected with what they read. As a person that grew up with the classic fairy tales of Disney, I have come to understand the importance of showing that our differences make us equal. This message is so important in today’s society and for future generations.

If you would like a copy of the book or to see more about Emma’s story, follow the link to the website: www.spumitaem.com

You can also access Laura and Emma’s story on YouTube via our SWAN Australia channel and the KAT6A Foundation channel.

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