We welcomed Francisco (Franki) Jules Moura on Mother’s day, 2016. Shortly after delivery, 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 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, 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 this year, Franki was admitted again for irritability, 24 hours without sleep, and growing concern about the reason for his GDD. It was here that we met the most lovely general pediatrician who 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!
Franki is now 13.5 months old, and is still genetically undiagnosed, despite ongoing genetic testing, inconspicuous MRI’s, CAT scans and inconclusive EEG’s. After failing to be picked up by the Early Intervention Program at PMH until just recently, Franki now receives therapy services from Wizetherapy, as part of his WA NDIS plan which includes combined weekly physiotherapy and occupational therapy as well as occasional speech therapy. Next term Franki will hopefully start hydrotherapy at PMH and it is my hope that he also attends private sessions of conductive education in the not so distant future.
Franki is now recognized as having considerable special needs. He has been diagnosed formally with global developmental delay, Cerebral Vision Impairment, and mild dystonia which is still under ongoing review for possible CP. Geneticists strongly believe all of these things are large in part due to a rare genetic disorder that is yet to be discovered. For now, they refer it to as a syndrome without a name (SWAN). Currently, Franki is non-verbal, can’t push off his hands, sit, stand, or walk. He can roll over from side to side, but takes an immense amount of effort in which to do so. He is making remarkable improvements towards sitting unassisted and we are hopeful that he will be doing so very soon!
Whilst we are thankful that Franki is receiving some assistance from WA NDIS, it is unfortunately limited and only covers what is deemed as ‘reasonable and necessary’, which is just over 50 hours of 1:1 contact per year which equates to about once a week. We know that the early years are the most formative and as such, we are hoping to be accepted for intense therapy in late 2017 and early – mid 2018 with NAPA http://www.napacenter.org, completing 3 hours of therapy, 5 days a week for 3 weeks, totalling 45 hours will cost just under $10,000! As Franki’s parents, we are his strongest advocates and strongly believe that he is capable of so much given the right opportunities in life!
If you would like to join our team dubbed ‘Franki’s fighter’s’, please get in touch at firstname.lastname@example.org
No matter the size of the donation $5, $50, $500 it all counts and will go a long way to giving Franki the best opportunities in life. Donations of any amount are so very much appreciated with all funds going directly towards progressing his development and accessing any specialised equipment that he may require.
From the very bottom of our hearts we thank you on behalf of Franki for all your love and support. It means everything to us all.
Vera & Fernando
To Donate to Franki Jules Moura, please use the form below. Thank you for your generosity.
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