Flying High: the ups and downs of living with an inherited eye condition

When Stephanie’s son, Gregor, was diagnosed with ocular albinism the clinician told her to ‘pray to God’. She was determined the condition, which runs in her family, wouldn’t define him. Along the way they’ve discovered more about the condition and found support from an inspiring teacher who shared her vision for her son.

Ocular Albinism runs in Stephanie Gardner’s family affecting her father and two of his uncles. When her son was 10 weeks old, he received a diagnosis of the condition of this rare hereditary disease. There is currently no treatment or cure. 

“My son, Gregor, was diagnosed with the condition at 10 weeks old. My two daughters, Bethan and Abbie, are both carriers and two of my three grandsons have the condition,” said Stephanie. She added: “Having grown up watching my father with the condition, then fighting for help with my own son and now watching two of my three grandsons adjust to their reduced vision incredibly, I am a stringent advocate for the condition and those who deal with it every day.”

The road to diagnosis

Stephanie says she “knew from the moment Gregor was born, 28 years ago, that he had the same condition as my dad. But at the time we didn’t know what that condition was.”

“At home I would put Greg in his pushchair by the French patio doors, (a typical RAF military family set up), and he would scream. I would also be feeding him, and he would look straight through me.” Gregor’s father, served in the RAF, so the family moved regularly. 

When he was six weeks old, Stephanie took Gregor to the RAF doctor. “He looked in Gregor’s eyes and said there was nothing wrong with him and that I was being an overanxious mother! The next day I took him to see a civilian doctor who was brilliant. At the appointment she held up a huge red puppet and Greg ignored it completely. She immediately referred me to a specialist." 

The specialist, a locum, diagnosed Greg’s condition immediately. 
“He turned to my husband and me and said: ‘Your son has Ocular Albinism and Nystagmus. He will never read or write and will need to go to a blind school. If you want to play football with your son, you will need to use a ball with a bell in it.’ “I burst into tears and the doctor said: “Don’t cry Mrs Gardner, if you want your son to see again you need to get on your knees and pray to God.’ This is all the information we received at diagnosis.”

A dark place

At the time, information about Ocular Albinism was sparse. “The only information I could find online, this being 28 years ago, was a US website called Noah, which was more aimed at people with albinism rather than OA/Nystagmus. At this stage we didn’t know how much or what he could see. I went to a dark place; I didn’t want my son written off at 10 weeks old!” said Stephanie.

“At the time we were living in North Wales, and I contacted the local RNIB but unfortunately, they weren’t a great deal of help. But when Gregor was four months old, we were restationed to Cornwall where things took a very different turn.

The family was put in touch with a VO social worker who Stephanie describes as “incredible.”

“She took me to Toys R Us and showed what toys would suit Greg. She got us an appointment at Moorfields Eye Hospital and came with us all the way from Cornwall! At Moorfields they examined Greg, and we officially got a diagnosis. We also brought Bethan, one of our daughters along, and they checked her and said she’s likely to be a carrier of the condition. They gave us glasses so that we could understand what Greg could/couldn’t see.

“We also found out the gene responsible for this condition. The GPR143 Nettleship-Falls gene affects 1 in 250,000 people. We’ve since found out there is a small niche of people in the West Midlands (where my dad is from) who have this variant of OA.

The GPR143 Nettleship-Falls gene affects 1 in 250,000 people.

Positivity and support

“Dad who had never been given a diagnosis, finally at the age of 55, found out what he had. He struggled all his life, was beat at school because he couldn’t see the board and would do all his sums in his head which resulted in him being physically punished!

“He didn’t let sight loss stop him, he was Chairman of South Somerset Council and Mayor of our town for 10 years. Blindness may or may not have led him to his calling of running his own successful blind factory!”

When Greg was one year old we moved to the north of Scotland, the family was matched with a Peripatetic Teacher who specialised in visual impairment, “These teachers go into schools and nursery settings to ensure the schools can provide any additional support a visually impaired student may need. She worked with Greg from 1 until he left school.

“We also were supported by an incredible person from the local education department, Sandra Tuke, she would help me fill in disability forms, and went above and beyond so many times."

School time stereotypes and laughter

“There are so many negative misconceptions running through every generation of my family members who have OA, but the misconception that I would like to highlight is the moments of silliness and laughter which is unique to a little child with sight loss,” said Stephanie.

“Greg attended the local school and one day I received a call from his teacher saying that she suspected Greg might have a UTI! He had been asking to go to the loo several times (being a little school trapped in time, the loos were outside of the school building). “I took him to the doctor, and they didn’t find anything the matter. A few days later the teacher had managed to get to the bottom of what was going on. Greg, who had light reactive glasses, was running outside so his glasses would go dark and then showing his friends.

“Greg went to mainstream school, college and university and is a fantastic musician, lives on his own and has a fulltime job working for DHL. I very much wish I could revisit THAT locum doctor today!

Hope for the future

“OA is rare, but it impacts people’s lives and there is very little information available about the condition. With albinism there are notable features like pale skin. But with OA people don’t realise there is an issue, other than dark glasses on a dark day. In the USA, people with OA can drive using a daylight license, but over here someone with OA can’t have a licence.

“And lastly being able to diagnose children like my youngest grandsons Teddy and Crew who are 22 months and 15 months and not yet speaking. My daughters took them to the opticians – but they unable to give them a proper prescription because they are unable to tell them what they can and can’t see. It would be lifechanging if opticians were able to improve the sight they do have, rather than have to guess.  

I know there won’t be a cure, but I know there is work being done to support people with the condition and to better understand what it’s like for someone with it.”