My name is Gabby, My partner is Adam and we are the parents of Layla who gained her wings at 11 months old. Layla was known to all as Bug due to her delicate body and large personality. Layla taught those who knew her about resilience and how to keep a sense of humour no matter what’s going on in life.
Layla was born with a Peroxisomal Biogenesis Disorder known as Zellweger Spectrum Disorder or Zellweger Syndrome, she was diagnosed at just 7 weeks old. Despite having a name to her genetics she was the first in the world to have a particular PEX12 gene mutation. For Layla Zellweger Spectrum Disorder caused Seizures, Global Developmental Delay, Oral Dysphagia, Hypotonia, and Multi System Dysfunction. Because of these things Layla required around the clock care with Seizure Management, Pressure Care, Regular Suctioning, Tube Feeding, Apnoea Monitoring, High Flow and O2 Therapy.
Layla had a large personality despite being unable to talk or move. She would light up every room she entered and had her medical teams wrapped around her tiny fingers. She loved music, lights and the outdoors but above all of that was her obsession for Minnie Mouse and Teddies because in hard times Teddies could fix everything right?
Zellweger Spectrum Disorder is an autosomal recessive disorder and only occurs in 1 in 50,000 births. The average life expectancy is just 12 months but as researchers gain more knowledge around the disorder medical professionals are beginning to learn to manage the disorder better, in turn increasing the life expectancy. Unfortunately for those who suffer from Zellweger Spectrum Disorder there is no treatment or cure at this time.
During Layla’s life we battled navigating the health care system from with being rejected due to lack of resources and often struggling to connect with others going through similar due to lack of advocacy for rare genetic disorders. We had to act as our own support service among our already chaotic lives to find the resources and information to improve our families life and relieve the financial burden from Adam so that he could spend precious time with his daughter too. Throughout all of this we have met amazing advocates and families who have endured similar to us which have become invaluable in helping us get through this battle.
Our wish for The Nathan Centres “Layla Patient Family and Support Service” is to provide families with a service to help them navigate govt assistance during one of the toughest times in their lives and provide support in connecting with other families so that during their journey they feel supported and loved while relieving some of their daily stress. We aren’t just a community, we are a family and no matter what we support each other.