Belfast Telegraph

Tuesday 23 September 2014

Niamh might look like a typical teen but her rare illness makes her one in 50 million

The schoolgirl, whose parents come from Northern Ireland, suffers from Dubowitz syndrome. She is the only known case in Ireland and one of just 148 worldwide. Paul Hopkins meets her

Still smiling: Niamh Stirling doesn't let her complex medical problems get her down
Still smiling: Niamh Stirling doesn't let her complex medical problems get her down

Niamh Stirling is like any 15-year-old Irish girl, bubbly and enthusiastic, petite and pretty as a picture, large dark eyes and generous smile lighting up when she walks into the room. Her bedroom, like most teenagers', has scattered posters of her favourite pop stars such as One Direction and Union J, her iPad and iPhone are never far from hand, and she is a football season ticket holder.

But Niamh Stirling is not like any other 15-year-old. For one thing, the morning of my first meeting with her, she failed to show. As dawn broke her mother Imogen, a qualified psychiatric nurse and psychoanalyst originally from Newry, Co Down, had hurriedly driven her to hospital with fears that the muscles working her heart were erratic and that the pain that had kept her awake all night were warning signs of a possible heart attack.

For another thing, Niamh Stirling is a girl in a million. Precisely, she is a girl in 50,000,000, one of only 148 recorded people worldwide with Dubowitz syndrome, the only known case on the island of Ireland.

Niamh is the only child of Imogen and Ken, also a psychiatric nurse from Ballymoney, Co Antrim. And both parents carry the rare rogue gene. So rare is this gene that their chances of meeting are almost incalculable.

Dubowitz syndrome is a rare mutation in an inherited gene, characterised by neurodevelopmental disorder, short stature, and eczema.

Sufferers are extremely prone to infections and have to undergo numerous surgical procedures.

To date Niamh has had 20 trips to theatre. She also requires occupational therapy and physiotherapy on an ongoing basis, neither of which is available to her locally due to cutbacks.

 The muscles in our bodies are arranged in a particular pattern: in Niamh Stirling her muscles are in a different pattern and her particular case of Dubowitz, which in many can cover a broad spectrum, is primarily gastrointestinal, immunological and neurological.

She is a [Dublin Childrens' hospital] Crumlin ‘peg' baby, with a permanent tube in her tummy which feeds her food and her daily cocktail of 20 different medications.

First discovered in 1965 by Victor Dubowitz, there are only 148 recorded cases in the world, though some research puts the figure at 200.

“I knew there was something up when I was pregnant,'' says Niamh's mother, the youngest of three. Her father, James (Jimmy) Brady was a renowned professor of law, in the field of equity, and was lecturer at UCD for half a lifetime.

 “I never put on any weight,” says Imogen. “The doctors kept telling me I was just petite, that everything was fine.''

Everything wasn't fine and when Niamh came into the world on a May day 15 years ago, she was five weeks premature and weighed just 4lbs

It was almost immediately obvious something was up: there was talk of heart and breathing problems, lack of swallowing reflex and other related neurological problems which had the medical profession at Dublin's Coombe Hospital mystified.

Niamh was discharged from ICU at five days old. The doctors had identified a heart murmur and they told Imogen and husband Ken to keep a close eye on her.

Any problems, they said, give her Calpol and the cardiologists would see her on Monday.

“That weekend Niamh stopped breathing,'' says Imogen. “I resuscitated her, giving her mouth to mouth and she was taken by ambulance and to Dublin's Crumlin children's hospital which was the beginning of the next 15 years.''

For the first 18 months, Niamh was fed by a naso gastric tube. She then was operated on to have a tube, or peg, put into her stomach. She never took a bottle, because of her lack of swallow, and she had no sense of hunger.

To ensure she has enough to sustain her she is on a nightly drip-feed of 12 hours to pump vital medicine into her system. A good night's sleep is still often erratic and irregular.

Doctors were baffled: on one occasion Niamh, at six months, was wheeled into the hospital amphitheatre where 200 medical students were invited to discuss her condition.

Doctors had wildly different outlooks. At one stage, says Ken, one doctor said to us, ‘Leave her here, go home and forget about her’.

It took a battery of tests before their first and only child was identified as having Dubowitz when aged 19 months. On another occasion a doctor said Niamh would never walk nor talk.

But Imogen and Ken never gave up, and Imogen laughingly says it was Ken — the ‘non-believer' — who said they should have their new baby baptised quickly, just to “cover our options”, says Ken.

The Ulster couple met in London in the mid-90s while working in a psychiatric hospital. “I called for assistance to calm down a patient,” says Ken.

 “I was literally sitting on the poor man when a young Imogen walked into the room. It was love at first sight, and we were engaged and married soon after.''

By age four their little girl had had 20 chest infections, four bad bouts of pneumonia, two kidney infections, major surgery to correct reflux, and five bilateral perforations of her ear drums which led to huge problems with hearing, on top of problems with mobility and muscles and joints.

“She had 70% hearing loss,'' says Imogen, “which took time for the doctors to diagnose and it was only, miraculously, after three operations to insert grommets into her ears that she could hear fully.

“By then she was, we discovered, lip reading to compensate. As her pain threshold is so high she hardly ever cried.''

Niamh Stirling needs lots of different types of special medicines that are not available on the Republic’s drug repayment scheme or medical card: one such medicine, to alleviate haemorrhaging, is flown in monthly from London,

Says Imogen: “We have the £148 a month prescription cap but Niamh's medicines cost about £2,500 a month, most of which are not listed under the drug repayment scheme, and 13 years ago drips and syringes were removed from such cover and so we had no choice but to apply for a medical card, without which I told the hospital that I would have to take Niamh to hospital every night and leave her there for her drip-feed, which she needed to stay alive.”

Faced with such a scenario, Niamh was eventually given a medical card. “But, yet again, this year the card has been denied her and Ken and I face what is months of hell, filling out form after form with every minute financial detail.

“What the minister here fails to grasp is that this syndrome is for life. Niamh is not going to wake up

in the morning and suddenly be any different.

“We are two people working in public and community health because we believed in the public service and that everyone should have access to equal health care. But that is not what is happening in the current service, '' says Imogen, who with Ken migrated to Dublin when she became pregnant.

It's relentless and exhausting, says Ken: “They do this on a regular basis, hoping to wear you down, that you'll go away and they won't have to help you financially.''

This year Niamh has been granted much-needed home tutorials, up to seven hours a week, but the Dublin Department of Education has said the Stirlings must find the teacher themselves — it does not have the time nor resources to do so.

By this time Ken and I are interrupted when Niamh and her mum return home from the hospital, where the doctors are happy to let this Crumlin Baby home for now because of both parents' nursing background.

Yearly Niamh faces yet new and emerging problems related to her overall ‘condition' — a word, she and her parents deliberately chose to use.

This last year she is suffering daily severe migraine headaches — Ken is a sufferer too — and new allergies, and the countless overnights in Crumlin never go away.

“My friends text me, ' says Niamh, “and say ‘where are you, are you coming out?’ They don't always know I have had to go to hospital again.'' And such is the fickleness of youth that such friends often move on to another confidante.

Niamh is back there again a week after our interview for another round of inserting Botox into her system to compensate for her body temperature. It can be scorching hot and Niamh will shiver. E qually the opposite can apply.

The team at Crumlin will use this opportunity to intervene in other areas of her body while she is under anaesthetic for, like a lot of us, Niamh has a morbid fear of needles after 20 surgeries in her short life. “I hate them, '' she says. “I mean how could anyone sit there and like having needles stuck in them all the time.''

Once, when in Crumlin other sick children were screaming in pain and fear, shouting at the needles probing them. Matter-of-factly, Niamh said to Imogen: “Now, you know what we were trying to yell at you when we were babies and we couldn't talk.''

She has a photographic memory and is an accomplished Irish dancer, and has played in local amateur theatre.

She is a good artist — “I want to write children's books and illustrate them” — and loves football, up to last year playing for the local girls team.

She misses playing football but she had to stop for fear a fall or knock would dislocate her double-jointed joint, part of her dyspraxia — a movement and motor disorder. “I cannot play tennis like my friends, because I have hyper-extendable joints,'' she tells me and then confides, sadly, that her frequent prolonged stays in hospital have meant losing friends who often moved on to others when she was not around.

Niamh attends the local co-educational secondary school where she was named Pupil of the Year in 2012, and will sit her Junior Cert [GCSEs] this year.

“I lose a lot of time at school and it's hard to catch up, but I will,'' she says, acknowledging she missed 60 days last year and now due to cutbacks she is not receiving the resource hours she desperately needs.

“The school has simply not been given the funding required to provide the resources needed.”

At first Niamh had not wished to do this interview. “Not all my friends in school know how sick I can be. But then I thought, there are lots of kids going through stuff and reading this might help them.''

And then she confides in me: “Our road is special.

“One neighbour has prune belly — [affecting the abdominal muscles] — and he is only 10 and the latest addition to the road, she has Downs Syndrome.”

Do you ever get fed up with being sick, I ask when we withdraw to the living room alone, out of earshot of mum and dad.

“Yes, like last night I was scared about my heart,” she pauses and then says, “But I am used to it. And any way, there is always someone else who is more sick than you.''

To meet Niamh Stirling out and about, you would never suspect her catalogue of illnesses.

She is otherwise a normal, happy teenager with a positive outlook and a steely determination to not let being ‘sick' interfere with her Irish dancing or jumping on the bus with her friends on Saturday and going to hang out at the shopping centre.

Niamh is savvy and is smart and when I ask her if she had one wish what would that wish be, she looks at me incredulously, as if to say ‘you cannot be serious'.

Then says: “My wish would be not to be sick...''

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