Franki the Fighter
Franki was born on Mother’s Day 2016. Shortly after he was born the paediatrician informed us that he had been born with a few birth defects that, by themselves, shouldn’t amount to anything to warrant us to worry about. But we did. We were shattered and overcome with anxiety. Little did we know then, that it would take an 18 month journey of worry, uncertainty and frustration before we would receive the life-changing diagnosis of KAT6A Syndrome.
Franki’s fight began 5 days after birth when we were told by his craniofacial surgeon that Franki would need to have major cranial surgery to repair his sagittal Craniosynostosis at 3.5 months of age. Before we could schedule this in, Franki underwent emergency surgery to repair an inguinal hernia at 4 weeks of age and in doing so they also performed an Orchiopexy to correct his other Cryptorchidic birth defect.
By 6 months of age, he had missed several important milestones such as being visually attentive and tracking objects or recognising faces, tolerating tummy time, rolling over and sitting up. Franki’s hands were also permanently fisted, held up to his face and he regularly arched his back and twisted his legs – all red flags for what we first feared may have been due to Cerebral Palsy, but later discovered was due to something called Dystonia, a neurological muscle movement disorder.
Looking back, we knew from the very start that there was something very wrong with our blue eyed baby boy. Breastfeeding Franki proved immensely difficult, made worse by a double tongue and lip tie. He had severe reflux (and still does) which we sought medication for, suffered terrible colic and constipation (now managed by daily medication) and cried incessantly all day every day for much of his infancy, so much so that we nick named him Cranky Franki during these episodes.
We received the heart breaking news that Franki had cerebral vision impairment after first suspicions of delayed vison maturation had not improved by 7 months. A very poor sleeper by nature, Franki’s irritability grew, much to the mystery of his doctors at the Princess Margaret Hospital for Children here in Perth.
By 8 months of age, and after many trips to the hospital and various doctor’s appointments later, Franki was diagnosed with global developmental delay and so started his multi-disciplinary therapy journey and our first appointment with the genetics team followed soon after.
AT 15 months of age, Franki had his first 7 minute seizure. He underwent many tests including CT’s, MRI’s, EEG’s, a lumbar puncture, ultrasounds and x-rays. All genetic tests also came back unremarkable and within normal limits. Fast forward to November 2017, the Genetic Services of Western Australia had almost exhausted all testing available to them until they detected a pathogenic variant on his KAT6A gene from a Massively Parallel Sequencing via TruSight One test. We then learnt that Franki was only the 107th person in the world to be diagnosed!
Aside from his many challenges, Franki is a very affectionate and warm natured little boy whose smile, is pure magic, and whose determination to succeed is inspiring to all that know him. Currently, Franki is still non-verbal, but is now sitting independently at 18 months and continues to surprise us every day. Whilst his diagnosis is bittersweet, it is validation for the concerns we suspected from the very beginning, and ultimately, it has enabled us to forge a strong connection with other KAT6A families who share the same unique journey, all over the world! Pretty special, indeed.
If you are interested in learning more about Franki’s story, visit http://frankijulesmoura.net/.