If you have a rare condition, or you’re the parent of a child with a rare condition, life – everything from first symptoms and securing a diagnosis, to treatment and support, communication and education – can come with a whole set of challenges. We find out more from people with lived experience.
Rhiannon and Paul have two daughters – Charlotte and Poppy – and are expecting their third child soon. “Everything was going as expected until just after Poppy’s first birthday,” explains Rhiannon. “Her development seemed to stall, then we noticed a big change in her temperament – our content, easy going, sociable daughter was suddenly angry, frustrated and extremely unsettled. Things progressed from there, and the journey to find a diagnosis began.”
FACING GRIEF
After a long and complex process, the family received Poppy’s diagnosis: Rett Syndrome. A genetic disorder affecting one in 10,000 girls born each year (it’s rarely seen in boys), Rett impacts brain development, resulting in severe mental and physical disability. “We felt immense grief, pain, helplessness, loneliness, worry about the future – it was the hardest time of our lives,” admits Rhiannon.
Tracy, whose daughter Audrey has Usher Syndrome – meaning that she was born deaf, and will lose her sight in future – experienced similar feelings. “You grieve for what they won’t have,” she explains.
Audrey and her family have devised a visual bucket list, with events to attend and places to visit so Audrey can absorb everything life has to offer while she can still see. “It’s like living with a ticking time bomb of uncertainty,” reveals Tracy. But being able to make memories – like seeing Coldplay live, going up the Eiffel Tower, and eating a Cornish pasty in Cornwall – is proving to be a real positive for Audrey, and her siblings and parents (Audrey’s dad is also visually impaired). That doesn’t mean Tracy doesn’t struggle though: “Some days when I think too deeply about it, it’s like I’m screaming on the inside because I know what’s coming, and I can’t stop it.”
AIMING HIGH
Karolina Pakenaite also has Usher Syndrome, which affects between four and 17 people in 100,000 worldwide. Diagnosed ten years ago, she’s now 29 and is slowly losing her sight and hearing. She’s just graduated from the University of Bath after completing a PhD on tactile images to enable blind people to access photographs. Guide dog Bosley accompanied Karolina throughout nine years of study, and took part in her graduation ceremony.
She’s also been pursuing mountaineering, scaling Mera Peak, Mount Kenya and Himlung Himal, and has plans to climb Mount Everest later this year. “The PhD challenged me intellectually, while mountaineering challenged me physically. Pursuing both journeys in parallel was a defining experience,” she admits.
For Poppy, whose mobility is impacted by her Rett Syndrome, climbing mountains may not be on her future to-do list, but Rhiannon is cheered by her daughter’s progress. “We’re working hard to build strength and stability and to maintain and develop the fine and gross motor skills she’s managed to retain. Poppy’s biggest challenge is communication, and she’s showing real strides in her use of AAC and eye gaze.”
Audrey is also excelling, and Tracy is amazed by her daughter’s drive. The 13-year-old has delivered deaf awareness training to her teachers, is in top set for her subjects, and is a peer mentor and student leader. “She’s the most formidable, amazing young girl,” Tracy beams. “If she wants to do something, she makes it happen.”
Parenting a child with a rare condition, or living with a rare condition yourself, can mean learning new vocabulary, attending endless medical appointments, and learning how to adapt physically and mentally to your new way of living. It’s a lot.
SEEK OUT SUPPORT
Rhiannon suggests: “Seek out support wherever you can find it (it’s not easy to find!). It’s so hard at the beginning, when you’re in the throes of grief and trying to figure out how to navigate this whole new world: doing it alone makes it that much harder.” She checks in regularly with her husband Paul, and seeks content – like blogs and podcasts – created by others on a similar journey. She’s also found solace in writing, while her eldest daughter Charlotte works with a play therapist to support her feelings and emotional needs.
LIVE LIFE TO THE FULL
Tracy wants others to understand that people with a rare condition shouldn’t be defined by it: “I’d say not to live a limited life, because there is support out there.” Rhiannon agrees, saying: “We want our daughter to be happy. We want her to be able to experience life to its fullest, and to have access to as many opportunities as possible.” But she also acknowledges that parents should “Be ready to fight, for everything. Keep pushing for everything your child needs. Learning to be an advocate is tough and pushes you out of your comfort zone, but it brings new meaning and purpose to life and makes a world of difference for your child’s future – and others around them.”
And to others with Usher Syndrome or who are deafblind and considering pursuing higher education or a research career, Karolina suggests: “You’re allowed to adapt systems so that they work for you – this is not a weakness, it’s good design. What matters is identifying approaches that provide appropriate support, advocating for what you need and recognising that your lived experience can offer valuable insight within any field you choose to pursue.” Good experience for everyone in life, we think!