Children who need speech pathology from northern beaches community health services currently face a six…
The Northern Beaches “Little Miracle Man”
Mother Nature dealt little Archie Innes and his loving family a cruel blow when he was born with an extremely rare condition, and an even rarer genetic mutation that rendered him without eyes at birth.
Dubbed a “little miracle man” by his loving parents, pre-school teacher Fiona, husband Stevie, and three old sister Alba, Archie who is now one years old, was born with SOX2 syndrome (abnormal development of the eyes), which affects one in 250,000 children worldwide. Unlike others born with this condition, Archie’s specific genetic mutation left him with no eyes at all. Archie is the second only recorded case of this specific mutation from SOX2 Syndrome world-wide.
In a bid to give Archie “a good shot at life”, his parents are issuing an urgent appeal to Australians to dig deep this New Year, and asking Aussies to help them raise $500,000 to cover Archie’s ongoing medical, care and intensive therapy costs throughout his childhood.
This is Archie’s story:
Archie was born on 6th of January 2017 with anophthalmia in SOX2 Syndrome. He has no eyes and is completely black blind. He also entered this world with a mild-to-moderate hearing impairment, and moderate aspiration (which can cause fluid to enter into his lungs), which necessitates the delivery of food and fluid through a tube. Archie also battles severe gross motor delay, and several brain abnormalities, which have rendered him hospital-bound and under constant medical supervision regularly throughout his short life.
“At 28 weeks into my pregnancy with Archie, the doctors performed a full scan and identified a brain abnormality. We were referred to Royal North Shore Hospital (RNSH) for a foetal MRI scan to determine exactly what it was,” said Fiona.
“At 32 weeks, we had the MRI scan and shortly after returning home we received a call from our doctor asking us to head back to hospital.” Back at RNSH, Fiona and her husband met with their obstetrician, who advised their son would be born without eyes. “On that day, our lives changed forever, because we were given the news that our beautiful baby was going to be born without eyes,” Fiona said.
Post- birth, Archie was diagnosed with SOX2 Syndrome. It is a genetic mutation so rare that only one other case has ever been recorded. His prognosis has continued to challenge his family, with the ongoing presentation of complications. Archie has since been diagnosed with neurosensory hearing loss, multiple respiratory infections, mild-to-moderate aspiration, multiple brain abnormalities (which are yet to be completely understood) and severe motor delay.
To date, Archie has spent close to half of his life in hospital, and when he is not in hospital, he makes almost daily visits to a plethora of doctors and paediatric physicians or receiving intensive therapy.
“My weeks are crazy with Archie. Almost every day we have to see different doctors. We see ophthalmologists for his eyes, and regularly have his hearing aids re-moulded due to his growth. We attend feeding clinics at which speech pathologists and dieticians feed him through his nasal gastric tube. He also undergoes monthly reviews with his paediatrician. “We have neurologist and cardiologist appointments scheduled for every six months. He visits two different physiotherapists regularly to assist with his movement along with three occupational therapists who aid his development He also has a guide dog visit regularly for movement and awareness training,” said Fiona. “Because he was born black blind, he doesn’t have any spatial awareness, and even the most basic movements are complicated to teach him.”
Despite these monumental health, development and treatment-related hurdles, Fiona wouldn’t change a thing. She prays her “little miracle man” will be able to live a fulfilling life one day, where he can reach his full potential and establish strong friendships.
“Archie’s a smiley baby, and is very social. He makes lots of sounds, and despite his extremely delayed sense of spatial awareness, he is beginning to reach out and touch things. He’s a beautiful child. “My hope for Archie is that he’s happy. I hope he will one day be able to achieve a level of independence that allows him to access the world. I want him to experience love and friendship, and to reach his potential, whatever that may be,” Fiona said. “We’ve already discussed with Archie’s ophthalmologist, potential, futuristic treatment, whereby something could be plugged into the back of his head that allows him to sense images, or to see something, similar to the way that a cochlear implant aids hearing. But this could be years from now.”
In the interim, to help pay for Archie’s immediate and ongoing medical care, his family has set up a personal funding page, in a bid to raise AUD$500,000 to cover a plethora of costs throughout his childhood, which include:
- Archie’s private health cover;
- Additional intensive therapy, physiotherapy, speech therapy, music therapy and hydrotherapy above and beyond the provision of NDIS funding;
- Medical and specialist physical equipment (medication, tube equipment, specialist food, specialist standing frame, corner chair and a specialist walker);
- Specialised sensory toys to encourage and stimulate Archie to move and develop a curiosity for the world;
- Assisted technology to assist Archie’s visual and hearing impairment;
- Fiona and Archie’s attendance at the ICAN USA conference in July, 2019, offering them the opportunity to meet the geneticist who discovered Archie’s syndrome, and to liaise with the world’s leading ophthalmologists regarding medical and technological advances; and
- Some petrol costs and car parking fees for ongoing hospital appointments.
“It’s extremely challenging to set a funding goal because we simply don’t know the level of care that Archie will require over the years. Any contribution, whether large or small, would make a genuine difference to our lives.
“If you are willing to help our family through this difficult time, we would be so incredibly grateful,” said Fiona.
Archie’s family have set up a website to raise funds to help give their little boy the gift of life. If you would like to contribute, please head to https://www.gofundme.com/4p3tc9s today.