$115.43

Franki's Fundraiser hosted by Oyster Bar Elizabeth Quay

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Oyster Bar - Elizabeth Quay

Level 1 & 2 /21 Geoffrey Bolton Avenue, Perth

Perth, Western Australia 6000

Australia

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Refunds up to 7 days before event

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Oyster Bar - Elizabeth Quay presents Franki's Fundraiser. A night of pure joy and entertainment. The Oyster Bar together with a live band, live auction, premium food and beverages providing much needed support for Perth local boy Franki Jules Moura and along with the help of his Mum Vera and local businesses from Perth we aim on raising much needed funds to support this worthy community cause.

Franki’s Story:

We welcomed Francisco (Franki) Jules Moura on Mother’s day, 2016 after a beautifully uneventful pregnancy. Shortly after delivery, however, we were shocked to discover that he was born with several birth abnormalities. The most noticeable and concerning to his pediatrician and us was his Sagittal Craniosynostosis. Craniosynostosis is a birth defect that consists of premature fusion of 1 or more cranial sutures, resulting in an abnormal head shape. Franki’s head was long and cone shaped at the back and resembled that of a boat.

The day we took Franki home from hospital was also the day we started his medical journey. The pediatrician organized us to see a craniofacial plastic surgeon, who told us Franki would need to have spring assisted craniofacial surgery to open the fused suture in his skull to enable his brain to grow normally. Along with an extensive medical team of neurosurgeons and plastic surgeons, Franki’s craniofacial surgery was scheduled for when he turned 3.5 months of age.

At 1 month of age, during a routine 4 week check up, it was noticed by his pediatrician that Franki had an inguinal hernia that had to be removed as soon as possible. Three days later, Franki was in theatre to remove this as well as have a left Orchiopexy procedure to correct his other Cryptorchidism birth defect.

After Franki’s cranial surgery, and at about 4 months of age, Franki still hadn’t grown out of being a highly irritable baby, who cried for long periods at a time and slept very minimally. It was then that we sensed there was more to our beautiful blue-eyed baby boy than we had previously thought.

Naturally, we were becoming increasingly concerned about his vision and delayed gross motor function and so we took Franki to a private pediatric ophthalmologist who told us he suspected DVM (delayed vision maturation) and we were told to wait until he was 6 months old to review. It was also at this time that we started taking Franki to a private physiotherapist to see if there was anything we could do to also progress Franki’s gross motor skills.

After numerous pediatrician appointments, Physiotherapy appointments and ophthalmology appointments in addition to many visits to ED at PMH, Franki’s development was falling noticeably behind…By his sixth month, he was still not visually attentive and it became very obvious that he was not meeting his developmental milestones. It was also at this age that Franki was again in theatre to have his right Orchiopexy procedure to finish correction of his Cryptorchidism birth defect.

By 7.5 months of age, a highly irritable Franki was once again admitted to PMH where we were given the diagnosis of Global Developmental Delay (GDD), by one of the Developmental Pediatrician’s, and were told to prepare for the real possibility of Franki having a permanent disability, and that Franki would be referred to get genetic testing and have an MRI after his cranial springs were due for removal. Nothing could have prepared us for that news…

In January this year, at 8.5 months of age, Franki underwent his fourth round of surgery to remove the springs inserted during his spring assisted craniofacial surgery. 8 weeks post surgery we were told that his Craniosynostosis treatment had been successful. We had hoped that by removing his springs, somehow his irritability may also cease. We were wrong.

Just before Easter 2017, Franki was admitted again for irritability, 22 + hours without sleep, and a growing concern about the reason for his GDD. It was here that we met the most lovely general pediatrician, Dr Aggie Judkins at PMH, who really listened to us and shared in our concerns. The ball started rolling and our one week stay at PMH allowed Franki to undergo his much awaited MRI, EEG and discussion with the Nuero team doctors. Finally, we felt like we were getting somewhere!

By 14 months of age, Franki was finally recognised as having considerable special needs, diagnosed formally with global developmental delay, Cerebral Vision Impairment, and mild dystonia – despite still being genetically undiagnosed and having had ongoing genetic testing, inconspicuous MRI’s, CAT scans and inconclusive EEG’s. Franki was immersed in a world of full of regular appointments to see a triad of physiotherapists, occupational therapists and speech therapists as part of his early interventions program.

Two weeks before turning 18 months old, Franki amazed us by sitting up independently when placed in a sitting position… Finally, he was making gains and we could not be prouder of his efforts made only possible from his many many hours of home and in clinic physiotherapy sessions with Jodie from WizeTherapy and the amazing Triston Hunter from Step Ahead Physiotherapy.

On November 21st, 2017 was a day we will never forget! Franki’s geneticists called to inform us that they had finally found a genetic mistake in Franki’s DNA makeup and we were given the news that Franki has a super rare syndrome, with an occurrence rate of 1: 1,000,000, called KAT6A caused by a pathogenic variant in the KAT6A gene. We were elated but the news of his new diagnosis was also bittersweet.

Immediately, we googled all the literature available about KAT6A and joined the very small facebook group community, allowing us to connect to the other KAT6A parents around the world. It was through connecting with the group administrators that we discovered that Franki was just the 107th reported case, worldwide!

Currently, Franki is non-verbal, is not yet able to crawl, stand up or walk, but with the help of ongoing therapies, Franki is making remarkable improvements every single day…

Meet Franki and his Mum Vera, spend the night dancing and having fun, whilst supporting this community event.

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Date and Time

Location

Oyster Bar - Elizabeth Quay

Level 1 & 2 /21 Geoffrey Bolton Avenue, Perth

Perth, Western Australia 6000

Australia

View Map

Refund Policy

Refunds up to 7 days before event

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