A toddler is going blind before he has even learned to talk due to a rare genetic condition.
Charlie Woods, who is three and lives in Middletown in Co Armagh, has Bardet-Biedl Syndrome, which has a number of variable symptoms that can often go unnoticed or else misdiagnosed because of lack of awareness.
Symptoms can include degeneration of vision and hearing, learning difficulties, reduced kidney function and obesity, reports Belfast Live.
Children with the condition are often born with an extra digit on either their hands or feet, although this was not the case for Charlie.
His mum Sandy says she fought a long battle in order to get her son diagnosed with the condition, with it only being discovered after she sought private genetic tests in the Republic of Ireland.
She has been told her son may become night blind around the age of four, after already discovering he had a hearing impairment, and will likely be registered blind by his late 20s.
She said: "December 2020 Charlie was diagnosed with Bardet-Biedl Syndrome, which is a rare genetic disorder that affects one in 100,000 children born in the UK.
"Myself and my husband were unknown carriers of a mutated BBS1 gene.
"It is a condition that can be very hard to diagnose and many of the medical professionals involved in Charlie’s care prior to his diagnosis admitted they had not even heard of the condition. You need to take a genetic test in order to get a confirmed diagnosis.
"I started taking Charlie to the doctor when he was seven months old when I began to have a number of concerns regarding his development. At first doctors thought that he might have a number of other conditions, including autism, but it wasn't until I asked for a genetic test that we were able to find out that he had Bardet-Biedl Syndrome.
"At the moment Charlie is unable to talk and we have been told that his retina at the back of his eye is already showing signs of vision loss. Last year we discovered that he had also hearing loss, but thankfully this was corrected significantly after grommets were installed in his ears at Great Ormond Street Hospital, London.
"He is likely to become night blind over the next 12 to 24 months as his vision deteriorates and due to his developmental issues we are worried that it could be a real struggle getting him help in the future to live his life, such as learning sign language or braille."
Sandy says her family have to visit London every few months in order to see a specialist, as there is not one for the condition in Northern Ireland, and is hoping to spread more awareness about it so that there can be an increased level of support locally.
She added: "There are no Bardet-Biedl Syndrome specialists in Northern Ireland so we have to attend a three day clinic in London in order for Charlie to receive a full check-up on his condition.
"While some doctors over here are aware of the condition, because we don't have any specialists it can be difficult for them to provide advice on how to support him or what we can expect moving forward.
"Many other professionals have never heard of the condition at all.
"I am hoping that by raising awareness around the condition that we will be able to have more support for children and parents, as growing up Charlie will require constant support due to the dangers he will face just trying to live his life.
"He will struggle walking up stairs or even crossing the road, we’ve been told not to even expect him to cycle a bike like most young boys do, and by encouraging more support and awareness it could make his life much easier."
Sandy is working with the charity BBSUK in the hopes of developing a conference in Northern Ireland regarding Bardet-Biedl Syndrome
They hope the conference can take place this year and they're asking anyone with an experience of the condition to contact them, be that a personal or professional experience.
She said: "We are hoping to bring people together in order to find ways we can improve the support and care for those with Bardet-Biedl Syndrome ahead of National Rare Disease Day on February 28."
