Fiona Innes SOX2 Syndrome Interview

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-year old sister, Alba, Sydney, Archie, now one-year-old, was born with SOX2 syndrome (abnormal development of the eyes), which affects one in 250,000 children worldwide. Yet, unlike others born with this condition, Archie's specific genetic mutation left him with no eyes at all. Remarkably, 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 January 6, 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 (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. 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, with 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 associated with SOX2 Syndrome. 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 not in hospital, 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."

Yet despite these monumental health, development and treatment-related hurdles, Fiona wouldn't change a thing. She prays her 'littlemiracle 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

Interview with Fiona Innes

Question: Can you share your story, with us?

Fiona Innes: We found out about Archie's condition, following a foetal MRI scan when I was 33 weeks pregnant with Archie.

Following the MRI, the doctor advised that our baby was going to be born with no eyes a condition called anophthalmia.

During this consultation, we were told that our baby's condition could be isolated, and that there was a genetic cause for their anophthalmia. After a healthy birth, we did some genetic testing, which got sent off to America.

The test results came back a few months later, and when Archie was two-months old we found out he had SOX2 Syndrome.

Around this time, we started to notice Archie's health decline and he was developing some of the associations of SOX2 syndrome.

He is black blind with no light perception, has brain abnormalities, severe gross motor delay (still struggling to put his head up) mild to moderate aspiration resulting in him being peg feed through his tummy, mild to moderate neuro sensory hearing loss requiring hearing aids.

Since this time, we have had to juggle several hospital admissions, surgeries and extensive therapy.


Question: How do these conditions affect Archie, on a daily basis?

Fiona Innes: Archie has a full timetable of medical appointments and specialist therapies from Vision Australia, RIDBC, Guide Dogs Cerebral Palsy Alliance.

It is hard to proiritise sometimes. Nearly every day we have appointments and have to travel around Sydney to get the vital help and support he requires.


Question: Can you tell us about the medical costs associated with Archie's condition?

Fiona Innes: I have had to give up work to support Archie, and to ensure he can attend all of the medical appointments and therapies he requires. Due to his blindness, I am Archie's world and we are working on him exploring his surroundings.

This has put a huge financial burden on our family. We have huge Petrol costs getting to all his appointments and he requires specialist equipment to help his severe motor delay.

Question: Can you tell us about SOX2 Syndrome?

Fiona Innes: SOX2 Syndrome is incredibly rare. It affects 1 in 250,000 children.

Prior to Archie, there has only been one other recorded case of the specific genetic mutation he lives with. Children with SOX2 Syndrome can have feeding issues, hearing impairment, learning disability, motor delay, brain abnormalities, and epilepsy.


Question: What message do you wish to spread surrounding SOX2 Syndrome?

Fiona Innes: Despite all of Archie's complex medical needs, which have resulted from SOX2 Syndrome, Archie is a happy, content, and loving little boy who enjoys life and thrives on being surrounded by others.

Children with SOX2 are affected differently but all unique and special in their own ways. My life is much richer since having Archie and I appreciate and live life to the fullest, enjoying each precious moment I have with Archie.


Question: How can Australians help give Archie a good shot at life?

Fiona Innes: There are so many ways Australians can help Archie over the next 18 years, with his ongoing care. By giving a small donation, we will be able to get all the specialised equipment Archie needs (standing frames, adaptive stroller, corner seats, walking frame etc).

These are so important to orientate Archie into positions to help develop his head control, core strength, spatial awareness) sensory toys to encourage Archie to move. Donations will help to cover the costs of any specialist technology that will help Archie access the world, and for intensive therapy (physio, occupational therapy, music therapy).

The more therapy the more we can stimulate the brain to make connections and develop new pathways to compensate for his sight loss and brain abnormalities. Early intervention is vital and I want to be able to provide Archie with the best chance to reach his potential so he can be as independent as possible.


Interview by Brooke Hunter