Swansea Mother's Dual Rare Disease Fight Amplifies Family's Awareness Campaign
Naomi Webborn, a 46-year-old mother from Swansea, has dedicated years to raising awareness about her teenage son George's rare congenital condition, known as tracheooesophageal fistula (Tofs). This defect affects approximately one in every 3,500 births annually and requires major surgery and specialised treatment for survival. Tofs involves a gap in the tube from the mouth to the stomach, causing food to enter the lungs instead of the stomach, which prevents proper feeding in infants.
Living in Sketty with her husband Darren, son George, and younger children Emily and Benjamin, Naomi serves as the South Wales representative for the charity Tofs. Her mission is to spread information and support families impacted by this condition. However, her advocacy work has taken on new significance following a life-changing personal diagnosis.
A Personal Diagnosis Adds Urgency
Naomi has been diagnosed with retinitis pigmentosa (RP), a rare hereditary eye condition that leads to progressive vision loss and can result in blindness. Early symptoms include difficulty adjusting to dim light or nighttime and a gradual loss of peripheral vision. The condition is caused by genetic mutations that break down photoreceptor cells in the retina.
Speaking about her diagnosis, Naomi explained, "At the moment I’m living a normal life, but it’s an incurable degenerative eye condition. Effectively I’m going to go blind or lose much of my sight at some stage of my life. I suppose the easiest way to describe it is your eyes are made up of rods and cones, and they hold your eyes together. With my condition, the cones crumble. If you think of the walls of a house, if the walls start to crumble, the house is going to fall. So it’s kind of like that in that sense."
She added that her symptoms began with sunlight and light hurting her eyes, leading to an eye test that revealed a freckle and black spots, which are indicative of RP. The diagnosis process took four years, highlighting the challenges in identifying rare conditions.
Amplifying Awareness Through Rare Disease Day
Every year, Naomi campaigns during Tofs Week, which runs from February 23 to March 2. This year, her efforts are particularly meaningful as February 28 marks Rare Disease Day, a global initiative that raises awareness for the 300 million people worldwide living with rare diseases, along with their families and carers.
Naomi aims to use this platform to highlight both Tofs and RP, emphasizing the importance of equity in access to diagnosis, treatment, and support for those with rare conditions. She stated, "One of the main aims of Rare Disease Day is calling for equity for people living with rare conditions. That is being able to have equal access to diagnosis, treatment and support."
In support of this cause, Swansea Council has agreed to light up the city's guildhall in a multi-coloured display on Rare Disease Day. Naomi is encouraging the community to join her, Tofs supporters, and Swansea East MS Mike Hedges outside the guildhall for a photo at 6.30pm on February 28.
The Broader Impact of Rare Diseases
Figures from Genetic Alliance UK and Rare Disease UK reveal that 3.5 million people in the UK are currently living with a rare condition, with one in seven affected at some point in their lives. This underscores the widespread impact of such diseases and the critical need for increased awareness and resources.
Naomi's dual experience with rare conditions—her son's Tofs and her own RP—has strengthened her resolve to advocate for others. She wants to do all she can to raise awareness about both conditions, using her family's story to inspire action and support during Tofs Week and Rare Disease Day.
For more information, individuals can visit the Tofs charity website at Tofs.org.uk and the Rare Disease Day website at rarediseaseday.org.
