In the first year of her life, little Eva Kelly suffered 50 fractures in different parts of her body.
One was caused by the simple act of sneezing, which caused her to break the humerus bone in her right upper arm.
The brave and resilient two-year-old, who lives in Lurgan, suffers from Type Three osteogenesis imperfecta (OI), the severe form of brittle bone disease, which means she is unable to support her own head, crawl or sit unaided.
In June, her mother Silean will be travelling to Westminster, as a representative of the NI Brittle Bone Support Group, to lobby for better services.
And at this month’s Belfast Marathon, a team from the Slimming World group at Portadown Rugby Club, where Silean is a member, raised £2,500 for the Brittle Bone Society, a charity which has helped the family greatly.
Eva is just one of a small number of people in Northern Ireland with the most severe, survivable form of the disease.
Silean, a paediatric nurse, who has taken a career break to care full-time for her daughter, discovered at her 20-week pregnancy scan that her baby had some form of skeletal dysplasia.
She said, “After the diagnosis, I had monthly scans at the Royal but it wasn’t until Eva was born that they were able to diagnose what type she had. During a skeletal survey, they found she had suffered fractures in the womb.
“She does look different. Her legs and arms are shorter than normal, which makes it look as if she has a form of dwarfism. Her height is also affected.”
To compound matters, Eva also had a bleed on her brain at birth and needed to have a shunt inserted, which still drains the fluid from her brain.
At just six weeks old, the infant made the trip to Sheffield for treatment at a specialist centre. Said Silean, “I literally carried her on a little Lilo because we were told to handle her as little as possible in those first weeks.
“She still has to be carried flat most of the time, although she can tolerate being carried on your shoulder for a short time and can sit in a buggy if her head is supported.”
Silean and husband Sean travel to Sheffield every 12 weeks and stay for three days while Eva is given an infusion of drugs to improve the density of her bones, as well as occupational and other therapies.
The treatment does seem to be helping, with Eva sustaining just five fractures in the past year. The last one was in March when she had a bug. Said Silean, “I put her on her side because when was vomiting. She was retching and she lashed out and I heard the snap.
“She was crying and in a lot of pain. It turned out to be quite a nasty break in her femur (thigh bone). The only thing is that her bones do heal quickly.”
Silean has noticed that Eva, who is very bright and astute and loves Peppa Pig, is becoming more aware of her condition as she gets older.
She explained, “She is very wary of people touching her because she knows that could hurt her, and she has started to look to me when it happens.
“It can be embarrassing and awkward when we are out because some people don’t understand. I was out with Eva in her buggy and a little girl leant over onto her.
“I had to explain to her mum that just doing that could actually have broken Eva’s leg.”
She added, “I suppose she looks like a normal toddler when she is in her buggy but when she is older people will see the wheelchair and know there is something wrong.
Silean is positive about her daughter’s future. “We are expecting Eva to sit up on her own. At the moment she is making slow but steady progress.
“In all likelihood, Eva will be a wheelchair user but as long as she can get where she needs to be, we are happy with that.
“We know one young girl who is also in a wheelchair but she goes to grammar school and it doesn’t stop her doing all the things other children do.”
She added, “You have to be positive about it. We don’t look too far ahead. We take things as they come and that way everything is a bonus.
“Initially the diagnosis was very difficult, but my background as a paediatric nurse does help. Yes, I’m her mum, but I can switch off and do things for her as a nurse.
“My mum also comes in to help me every day. The family is great on both sides.”
Silean and Sean have received invaluable practical and emotional support from the Brittle Bone Society.
Said Silean, “We needed a special bath for Eva, which cost over £700. We applied to the charity for a grant towards the cost but they gave us the total amount we needed, which was fantastic.
“It is a small charity and any money they get is highly appreciated.”
Next month, Silean will be travelling to Westminster, along with Patricia Osborne, chief executive of the Brittle Bone Society, to lobby for better services for people with rare conditions.
She said, “The services they have in Sheffield are fantastic but what I would like to see is some sort of follow-up service here. If Eva fractures, there is nowhere specialised to go. Since she can’t be cast it is not straight-forward treating her. A specialist nurse who could co-ordinate things would be ideal.”
Silean is also grateful to the support and friendship she has encountered at the Slimming World group at Portadown Rugby Club, which she joined eight months ago.
Five members of the group completed the Belfast Marathon as a relay team while a further nine walked part of the route, raising £2,500, and more money is coming in.