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Smiling through the pain

Living

LITTLE TROOPER?Mary’s treatment includes a daily injection so painful many adults cannot stand it.?Pic: Elizabeth Toher

Three-year-old Mary Kelly suffers from a rare chronic inflammatory condition

In July, Mary Kelly will turn four years old. Like many young girls of her age, she will be looking forward to making new friends when she starts play-school in the autumn. Most parents’ main worry is whether their child will settle in quickly, but for Aoife and Tom Kelly, it will be much more stressful than that.
While Mary looks the picture of health, if she catches even the slightest cold, she could end up in Mayo University Hospital.
Mary – who lives in Cahir, Ballinrobe – suffers from Chronic Infantile Neurological, Cutaneous and Articular Syndrome, or CINCA for short. A severe chronic inflammatory condition, it is very rare, with only four people in Ireland having been diagnosed. It can affect the skin, joints, the central nervous system and more.
As a result of her CINCA, Mary suffers from childhood arthritis, which causes swollen joints. Since her birth, the Kellys have been regular visitors to the Rheumatology Department in Our Lady’s Children’s Hospital in Crumlin.

Shock
Mary’s treatment includes a daily injection so painful many adults cannot stand it. It sounds horrific, but Mary’s young life would have been a lot worse had it not been for a pediatrician, Dr Julie Lucey, who just happened to be working as a locum in Castlebar at the time of Mary’s birth.
“She was delivered with a red rash all over her body, and her blood values were high,” recalls Aoife. It was a complete shock, as there had been no signs that anything was wrong during her pregnancy.
“I didn’t see her, she was whisked off. I just remember there were 13 people in the room and she was taken straight away. They were really worried about her. I was told she was not going to live after the first day. They really hadn’t a clue what was wrong with her.
“There were consultants looking at a strange looking rash, which literally moved as you looked at it. They’d never seen anything like it before.”
Fortunately, Dr Lucey had seen a similar case while working in Sydney, and she was able inform her colleagues of what she believed the root cause to be. Mary was brought to Crumlin, where she was seen by a specialist from England and diagnosed within three months.
“[Dr Lucey] was in the hospital for five weeks of the summer, and because of her we were spared at least three years of being in hospital, as Mary would have been sick most of the time.
“We were very lucky. It is not usual to get a diagnosis at three months – the average age is four or five years old,” Aoife reveals.

Ordeal
Tom is Mary’s full-time carer at home. Aoife, a national school teacher, is currently on maternity leave for their second child, Sara, who is three months old.
The early diagnosis ensured that Mary started her treatment early and is now on a drug called anakinra, which is used to treat rheumatoid arthritis. It is administered by injection, an ordeal that requires the attention of both parents, such is the level of discomfort involved.
“There are not many people in the country on it, but there are a lot of arthritic patients on similar drugs. It is a very painful injection, and a lot of adults who are given it later in life cannot take the pain, but Mary has a very high pain threshold. She rarely cries when she falls.
“It is awful to give to her, it is a two-man job. Tom is her carer – he holds her, and I give it to her. We have a routine since when she was tiny, we give her half a biscuit before hand and she gets the rest afterwards. It is hard because she is only three, but hopefully down the line she will be able to do it herself. We get it out of the way in the morning … we used to give it to her in the evening, but she would be dreading it during the day.”

Waiting lists
Best practice guidelines recommend that children be seen within six weeks of the onset of symptoms to ensure early treatment and a better chance of a normal life. However, in Ireland, many children with suspected juvenile arthritis are forced to wait much longer before they get a diagnosis.
At present, arthritis affects over 1,200 children nationwide. The waiting list for diagnosis is usually between three and 12 months. Currently, 494 children are on the waiting list, and 150 of them have been waiting longer than a year.
The waiting list is so long because there are only two pediatric rheumatologist covering the country, and 50 percent of their time is dealt with general medicine in Crumlin. Arthritis Ireland is calling on the Government to appoint an additional consultant to help with the backlog.
Aoife can see the strain the staff in Crumlin are under, and the stress that the delays puts on parents who just want the best for their children
“The nurses and doctors are under an awful lot of pressure. There are so many patients in the waiting room in Crumlin and there is only two of them [consultants]. We were just pure lucky that Mary was diagnosed after three months.
“The last time we were in Crumlin we were talking to a mother who had two kids with rheumatoid arthritis, and she was put on a waiting list for 18 months to get an appointment. She had a little girl in fifth class who was really sore and she had to go private. It is ridiculous. There really should be four rheumatologists in the country.”

Missing out
Because CINCA suppresses the immune system, Mary has to be careful around people who have flus, colds and other contagious illnesses. If she gets sick, she has to come off her medicine and she ends up in hospital for up to a week with swollen joints.
When she should be playing with her cousins, Mary has to stay indoors, and she misses out on birthdays and other events because of the risks.
“We live a quiet life in the winter because people know not to come around if they have a cold,” Aoife laughs.
“People might look at you funny when you say Mary has a disease because she doesn’t look like it. She looks perfect and you wouldn’t know there was anything wrong with her. When she gets sick and she is off her meds and the rash comes back, she looks very sick.”
Fight for care
If the Kellys did not have enough to worry about, they received notice last year that their medical card was to be taken away from them.
“We were devastated, because she is really sick and has a serious need. If she can’t get a medical card, what is the country coming too? She gets physio and is seen by nearly every department in Crumlin. The medical card is vital for her. We had paperwork on our counter for five months and it took 300 pages of photocopying before it was sent off. It was very stressful. She will always need the medical card – I couldn’t believe that they would take it from her.”
Aoife and Tom’s hard work eventually paid off, and they got the card back – but only for another two or three years.
As Mary grows older, her family hopes she’ll be able to live a normal life. She starts play-school in September, and Aoife and Tom hope she’ll be in a position to attend the local national school the following year, despite all the risks.
“We hope she doesn’t get too sick going to school. She’ll have a few rough years ahead of her when she’s introduced into the wider environment, but I don’t want her to miss out on school and its social aspect. I don’t want the disease to inhibit her in any way.”
With parents as loving and dedicated as Tom and Aoife, Mary will certainly have the best shot. They took her swimming for the first time recently – a childhood rite of passage so commonplace that others take it for granted, but a huge step for the Kellys. Hopefully, with the help of continued care from the health system, little Mary will get to live the fun-filled, action-packed life she so deserves.