I’m Sammy, mum to beautiful Macy who gained her angel wings in May last year. Although Macy was only with us for a short time of 18 months, she had a huge impact on everyone who met her, especially myself and her dad Tim. She honestly taught us so much and really showed us what is most important in life.
Macy was born on the 16th October 2019, 12 hours after birth Macy had her first seizure, What would unfold over the next days, weeks and months was a journey no parent should ever be on let alone a child. A MRI at 5 days old showed abnormalities on Macy’s brain, likely caused from a genetic condition. At this point in time I really had no idea about genetic conditions and how many their actually were. Numerous hospital admissions and appointments later no one really new what Macy suffered from as her presentation was so rare, her neurologist at PCH advised that Macy reminded her of a little girl that had passed a few months prior and she would have this gene tested, it was new and had really only been discovered in the last few years. At 4 months of age we got the results back. It was confirmed that Macy had WWOX. An extremely rare recessive mutation of the WWOX gene causes a deficiency of this protein which has a severe impact on brain development, with roughly 50 cases worldwide.
Although four months seems like a short time to have to wait for a diagnosis, those first four months of the unknown were extremely hard for us, we had to advocate and fight hard for Macy, I spent many days with her in ED explaining that things weren’t right. We met with 10-15 different doctors through PCH who all had different opinions on what might be going on. Genetic services of WA had also tested around 600 genes prior to Macy’s neurologist pushing for this gene to be tested (this also wasn’t an easy task for her as this had to be approved through the hospital board).
With the diagnosis and advice that Macy’s condition was life limiting she was referred to palliative care from 4 months of age. Over her 18 months of life she had over 20 hospital admissions, over 40 days spent in emergency, 100s of appointments and therapy sessions. We wanted Macy to be comfortable and pain free and have a quantity of life mainly at home with us. Macy’s condition meant that she suffered uncontrollable epilepsy, she had paucity of movement, vision impairment, scoliosis with a profound rib hump, low tone, feeding difficulties and was tube fed, respiratory issues & automatic dysfunction. Macy’s health declined from Christmas last year with her taking a turn for the worst at the end of April, her seizures became worse and the eight anti-epileptics she was on + rescue meds weren’t even scratching the surface. She would continue to breath hold with each seizure. After a meeting with palliative care in PCH ED it was suspected that Macy was end of life, she really looked exhausted. Tim & myself made the decision to bring her home where she belonged to ensure she was comfortable. 3 days later at 3am in the morning she took her last breathe whilst holding my hand.
Macy taught us so much, she helped me find a strength I never knew I had, showed us what being resilient is all about and just how precious life really is, nothing should ever be taken for granted. All Macy knew was love. She opened our eyes to a world of amazing children & families who are fighting big battles. She was the toughest of the tough and we miss her and her cuddles so much, her eyes light up a room and her smile was something else.
Our hope for the Nathan centre is to: