Aoife is the only child in NI with a rare genetic condition but her mum’s making sure she enjoys life to the full
Cookstown woman Seanin Hughes’ daughter has Morquio Syndrome, a rare metabolic disorder which restricts her growth and limits her mobility. She tells Lee Henry how determination and a shared love of books helps them cope.
You may never have heard of Morquio Syndrome and there is very good reason for that. The metabolic disorder, which is caused by a deficiency of N-acetylgalactosamine-6 sulfatase, is extremely rare, affecting fewer than 100 people in the whole of the UK at the present time — just 10 adults and one young person in Northern Ireland as a whole.
That young person is Cookstown-based Aoife Hughes. The 10-year-old was born in Craigavon Hospital in June 2007, daughter of Seanin and Oliver, and at first presented no symptoms of the disease.
“She was a happy baby, all smiles, and we couldn’t have been happier,” recalls Seanin (33), originally from Magherafelt, who worked in accounts administration at the time of Aoife’s birth.
Over the next two years, however, it became clear to Seanin, Oliver and the doctors at Craigavon Hospital that something was not right with baby Aoife.
“She didn’t meet regular milestones such as sitting, crawling and walking at the expected time,” says Seanin. “And by the time Aoife was two, she had a significant spinal curve and it was clear that something complicated was going on. It was at that point that the doctors recognised specific Morquio symptoms.”
Aoife was formally diagnosed with Morquio Syndrome in 2010. Understandably, it was the first time that Seanin had heard of the disease and her initial reaction as a mother was one of “shock, followed by a lengthy period of denial”.
“Basically, Morquio Syndrome is a disease wherein the body can’t break down certain sugars,” Seanin explains. “This means individual cells are affected. This results in certain conditions including skeletal deformities, restricted growth and issues with major organs.
“I don’t think I started coming to terms with the fact that Aoife had the disease properly for several years, if I’m honest. But from the very beginning, the doctors at Craigavon were great. We were surrounded by an exceptional team, including Dr Fiona Stewart, who diagnosed Aoife. We were very lucky in that sense.”
Over the next few years, Aoife spent a large part of her young life in hospital undergoing various small-scale procedures and in 2014 she travelled to Manchester Royal Hospital for Sick Children to undergo major surgery on her spine.
“The Manchester surgery was unspeakably stressful,” admits Seanin. “It was absolutely terrifying for all of us. Aoife was in theatre for 10 hours and we couldn’t bear it. In the end, however, the surgery was successful. A fantastic success, in fact.
“The surgery meant that Aoife’s severe spinal curvature was significantly reduced. Her spine was effectively straightened, which reduced pressure on her lungs and respiratory system. I can’t thank the Manchester team enough.”
The effects of Morquio Syndrome continued to have a huge impact on Aoife’s day-to-day life, however, and Seanin therefore made the decision to give up work to become Aoife’s full-time carer. Having separated amicably from Oliver shortly after Aoife’s birth, she called upon his help, and the support of her parents, Seamus and Patricia, when needed.
“There have been some difficult times, yes, but we have such an amazing support network,” says Seanin.
“Despite separating, Oliver and I have always maintained a strong relationship as parents. All decisions, all difficulties and all successes are experienced and celebrated jointly alongside the rest of our support network. My family has always been exceptional, too. I’m very fortunate in that I have never struggled to feel supported, which in turn means that Aoife has everything she needs.”
Shortly after Aoife’s successful spinal surgery, Seanin began a campaign for access to enzyme replacement therapy for Aoife using a drug called Vimizim, which was not freely available on the health service at the time.
“Vimizim is basically a synthetic version of a hormone that helps break down sugars,” explains Seanin. “It had to be approved following clinical trials, and then it was approved, but there were funding issues. The UK was one of the last countries to agree to reimburse the cost of it, despite being one of the main countries involved in the trials. The campaign was long, exhausting and at times felt impossible, but we got there in the end.
“Aoife used to spend large chunks of time in hospital due to respiratory infections. She tired easily, struggled with poor quality sleep due to her narrow airways and frequent respiratory issues, and suffered with a lot of pain in her joints and muscles. All of these things have been significantly reduced with Vimizim.”
Today, Aoife is 10 years old and thriving, given the circumstances. Despite all of the successful surgeries, the medical breakthroughs and ongoing therapies, however, her growth will always be restricted. Seanin adds that accessibility will continue to prove troublesome for Aoife in all walks of life.
“Accessibility is a constant issue. Things that wouldn’t appear to be significant to others are for someone in Aoife’s position. For example, at school Aoife can’t open doors herself to get to the bathroom, because they are fire doors and they are therefore very heavy. It’s difficult. Obviously having all the doors automated in a small school with limited funding isn’t an option when it’s just for one kid.”
In 2018, Aoife makes the transition to secondary school. “Navigating that adventure with as few knocks and bumps as possible will be our next focus,” Seanin smiles. “For now, one day a week is committed to her treatment, and we are often at other medical appointments in order to keep a close eye on her overall health. Her life is still dictated by Morquio. That’s the reality, but she finds ways to enjoy things like any other 10-year-old.”
One of those things is reading. Aoife is “a huge fan” of popular children’s authors Roald Dahl and David Walliams, and Seanin describes her as “a serious bookworm”.
“Reading is one of her biggest passions, with writing a close second. She adores Dahl, Walliams and anything else that she can get her hands on. This year, she became involved with a wonderful rare disease magazine called Rare Revolution and has some very exciting projects lined up as one of their columnists. It’s all about books, art and music. Provided one or all three are readily available, both of us are happy.”
Aoife inherited her passion for literature from her mother, with Seanin having dabbled in poetry all her life. Seanin attended Keele University in Staffordshire to study English and sociology but was forced to return home due to personal problems.
“I was so young and very quickly found myself unable to cope with the pressures of leaving home and going so far afield without anyone familiar to lean on,” she admits. “For a very long time, in fact, I didn’t realise that my symptoms went beyond depression and anxiety. It was a gradual realisation that eventually led to seeking psychiatric help and last year I was diagnosed with borderline personality disorder.”
Seanin argues that BPD remains “tainted by stigma”, despite the huge strides made in recent years with regards to mental health awareness. “And that simply shouldn’t be the case. I wouldn’t change any of it. My mental health has played a pivotal role in who I am.”
Writing provides Seanin with an outlet through which she can make sense of the world, express her emotions and indulge her passion for the arts. She has been published in various literary journals and plans to release her debut collection next year.
“I write because I’m compelled to,” she says. “It has been a constant feature of my life and I’m incredibly excited to be at a point where I can start to mould it into something concrete, something with future potential. I’m in the process of preparing to go back to university to study for my degree in English and creative writing.
“I’ll hopefully be starting my degree at Queen’s at the same time as Aoife starts secondary school, so we’ll tackle the newness of it all together.”
Seanin is currently in a new relationship, and is thankful that she gets to spend so much quality time with Aoife and her three other children — Naiomh (12), Layne (5) and Aine (1) — before she returns to university. The future looks bright, with lots of positives to focus on, even if Morquio Syndrome will remain a constant consideration in the years ahead.
“Morquio is a progressive disease,” adds Seanin, “meaning that it worsens over time. So beyond knowing that things will intensify, the future isn’t ours to predict. I think it’s difficult to isolate the ways in which Morquio has affected me personally, because it is an integral part of my life.
“I can’t imagine how things would be without it. On the one hand, I can dwell on the negatives, but on the other I can be mindful and pay close attention to what it teaches me.
“I prefer to go with the latter. From here, I’d like to make every possible opportunity available to Aoife as she grows up.”
The facts about Morquio Syndrome
Morquio Syndrome is an inherited metabolic disorder that belongs to a group of diseases known as mucopolysaccharidoses (MPS).
It is named after the Uruguayan pediatrician Dr Morquio. Sufferers of Morquio Syndrome are unable to break down complex carbohydrates, or long chains of sugar molecules, which the body otherwise constantly replenishes throughout the course of an individual’s life.
Thus lacking in the necessary enzymes, sufferers are therefore restricted in growth, ultimately limited in mobility and prone to extreme tiredness. Morquio Syndrome is an exceptionally rare disease, affecting 1 in every 200,000 births, and is currently incurable.
However, various surgeries and medicines, including Vimizim, can treat the disease and limit symptoms. More information on Morquio Syndrome and 24 other MPS diseases can be found on the MPS Society website mpssociety.org.uk, tel: 0345 389 9901.