franki jules moura
Franki was born on Mother’s Day 2016! He was the gorgeous baby brother we had all been anxiously waiting for. Unbeknown to us, Franki joined us earth side with several birth defects and many more question marks. Just after delivery, our pediatrician told us what every parent fears, that there is something wrong with their newborn child. Franki was born with Sagittal Craniosynostosis – a result of the skull bones fusing prematurely before birth and the reason why he needed to be born via emergency cesarean.
Our next hurdle came when Franki was 4 months old, convinced that he could not see. Perth’s best paediatric ophthalmologist confirmed that Franki had delayed vision maturation and we just had to wait and hope that his sight would develop. It did, but not as how we would expect. We now know that Franki has Cerebral or Cortical Vision Impairment. By the time Franki was 9 months old, Franki had had 4 major operations, one MRI, one CT, several blood work and spent many visits in ED looking for answers as to why our baby boy was not developing, was so irritable and did not sleep. He was diagnosed with global developmental delays of an unknown origin and from there Franki’s DNA was sent off to have further genetic testing which initially yielded no answers. We felt totally helpless with how to help with our baby boy.
By the time Franki turned 1, it was obvious that Franki had missed several important developmental milestones including rolling over, pushing up with his hands, visual tracking, using his hands to play, sitting up, crawling, pulling up to stand and walking.
Not long after Franki turned 1 we met some inspiring special needs families who led us to some amazing therapists. We started seeing Triston Hunter from Step Ahead Physiotherapy and after a few months, Franki learnt how to sit up independently at 18 months of age. Since then, we have been immersing Franki in as much CME physio we can offer him and his progress over these past 6 months have been nothing short of incredible!
One Tuesday afternoon, in late November of 2017, Franki’s geneticist called us to confirm what we had long suspected. Franki was born with a rare genetic syndrome called KAT6A, with Franki being only the 107th person in the world diagnosed.
KAT6A is a rare syndrome resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the KAT6A gene makes the KAT6A protein. The KAT6A protein is involved in controlling the production of proteins from other genes. Therefore, when there is a change on the KAT6A gene, problems can occur in various parts of the body. Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range in symptoms and features.
Franki’s symptoms include: significant gross motor delay, intellectual disability, feeding difficulties, constipation, chronic acid reflux, absent speech and language, heart defects, seizure disorders, frequent infections, sleep disturbances, abnormal dystonia muscle tone, vision problems, microcephaly, chronic pain and behavioural and sensory challenges.
Franki has overcome so many challenges and continues to progress and surprise us every day! Given the right tools, we are adamant that Franki will continue to flourish and reach the summit of every mountain before him.