Sunday 30 April 2017

Fragile X Syndrome: 'As a parent, you feel guilty and then you feel alone'

The inherited condition Fragile X is misunderstood and often misdiagnosed

WHEN Maria Panza held her baby girl, Alesia, for the first time, she loved her instantly. The first-time mum examined every inch of her daughter's little body and counted fingers and toes, relieved that the birth was over.

For Maria and husband Nigel, Alesia was the "most relaxed and laid-back baby in the world" who slipped easily into their lives. But as her baby grew, Maria noticed something was wrong -- Alesia wasn't hitting any of her developmental milestones.

She was eight months before she could sit up on her own and almost two years old before she walked. Her speech was severely delayed and those early babbling baby sounds of "ma-ma" and "da-da" never came.

Then other "very worrying" behaviours kicked in. Alesia was a hand-flapper and a spinner and the family started to believe their daughter was autistic. It took two years before they were given the diagnosis, that Alesia, now six, had full mutation Fragile X.

Before that December day four years ago, Maria had never heard of Fragile X Syndrome (FXS) and had no idea what it was. Now she is chairperson of a support group, www.fragilex-ireland.org, that helps Irish families come to terms with a diagnosis of the condition.

"It is one thing to have a child with a learning disability, but to have a child with a learning disability that I have passed on to her through my genes, through my blood, now that's a very difficult thing to come to terms with," she says.

Fragile X is the most common cause of inherited learning disability in the world affecting one in 4,000 boys and one in 6,000 girls. One in 130 women and one in 775 men are carriers of the faulty gene, FMR1. Yet it remains, in Ireland, a much-ignored and misunderstood condition.

Many children who display full mutation of the syndrome are misdiagnosed because the behaviours that are typical of FXS are very similar to behaviours on the Autism Spectrum, although one third of affected youngsters will also have a separate diagnosis of autism.

Maria explains: "Typically, children can have profound social anxiety, including a dislike of eye contact and both verbal and physical displays of affection. This can cause them to shout or hit out. There are hyperactivity issues and problems with concentration.

"Youngsters can find it difficult to communicate and may be pre-verbal. Many are touch defensive and don't like having their hair brushed or nails cut. There are sensory issues such as being bothered by loud noise, bright lights or crowds. Some are anxious in social situations and need the security of routine.

Physical

"There aren't very obvious physical markers, like with Down Syndrome. There are some physical indicators but they are not pronounced enough to alert healthcare workers, who probably won't have experience or would have very limited knowledge of Fragile X."

Professor Andrew Green is head of Medical Genetics at Crumlin Children's Hospital in Dublin. In 2008, the hospital was forced to stop all testing for Fragile X Syndrome due to staff shortages and chronic underfunding.

Although services were restored last year, there are still long waiting lists to be seen by Professor Green's team.

"We perform around 800 Fragile X DNA tests a year," he says, "and from that we would see three new cases emerge. It is a serious condition with huge implications for diagnosed families."

In the Task Force on Autism, compiled by Professor Sheelagh Drudy, it was recommended that all children diagnosed with an Autism Spectrum Disorder be tested for Fragile X. Despite chronic underfunding in the unit, Professor Green and his staff have not turned anyone away. Those needing a Fragile X test will have it.

Fifty Irish families have made contact with www.fragilex-ireland.org looking for support, the most recent a family with a four-year-old boy the north west of the country. Maria believes there are many more out there.

"Looking back now, when Alesia was born, there were signs that she had Fragile X. Other babies screamed, but Alesia didn't. Her cry was weak. She was also floppy and her muscle tone wasn't strong. But the big giveaway was her hand grip.

"Alesia has hyper-extendable hips, another big giveaway, but nothing was thought of it at the time.

"If the knowledge base were greater, then our Fragile X kids would come into the system earlier and receive the interventions and assistance they need."

For two years, the Panza family were told by a succession of people that their baby was fine and she was just a late developer.

Alesia was eventually referred for an appointment to Temple Street at eight months old but was two before she saw a specialist.

"They sat my daughter in a consulting room and a group of doctors, young interns, registrars came in to observe her. They threw out lots of different syndromes and conditions and one of them was Fragile X, the first time I heard those words.

"The paediatrician that day had a background in genetics, so blood was taken and we waited for the results."

Maria went home and Googled her life away.

"I looked at YouTube and other sites and kept saying: 'Thank God, it's not us, it's not Fragile X.'" Six months later, just days before Christmas, the family got the call. It was Fragile X.

"To say we were devastated is an understatement. It tore right through to the heart of our family and I kept thinking, I gave this to her. It's my fault."

Weeks later, it was confirmed that Maria is a carrier of the Fragile X gene. Her second daughter Lucia is displaying no symptoms of FXS.

Today Alesia is a happy little girl who enjoys her life to the full. Although she is six, she is still "pre-verbal", but communicates with her family through the PEX language system and can now say "mama".

Hours of Applied Behavioural Analysis (ABA) teaching have allowed her to bloom and grow instead of staying locked inside herself.

With FXS, girls tend to do better than boys, because girls have two X chromosomes (XX) and boys have just the one (XY). Geneticists believe that the severity of a full mutation can be reduced in girls because of the extra X chromosome.

Darach Mac Con Iomaire (eight) is another child who lives with the condition, in its full mutation form. His mum is artist Sheila MacNally and dad is Colm Mac Con Iomaire, acclaimed fiddle player and musician with The Frames.

Darach was also diagnosed as a two-year-old and mum Sheila is the carrier.

While Darach met his milestones as a baby, it was as he moved into his toddler years that Sheila sensed something wasn't right.

Tested

"We felt that there was something, but it wasn't until we took a stand and said, 'we need him tested, there are behaviours and a slowdown in his development that is worrying us' that tests were done.

"Initially they thought it was dyspraxia. I had heard of Fragile X but when they actually say those words to you, it's like a bomb going off in your head. Colm was shattered and struggled with the diagnosis.

"We were told that Darach had Fragile X and literally went home in a daze.

"As a parent, you feel guilty and then you feel alone. Then you start researching and finding out what you can do to help your child. There is so little known about the syndrome in Ireland that you literally don't know where to turn or who to talk to.

"Now, we feel that by talking about our child having Fragile X, in a positive and upbeat way, you bring clarity and possible answers to another family who have been recently diagnosed.

"We were given a lot of support by a local family who have two boys with Fragile X and that's how it goes -- they helped us and we in turn will help others. There is so much publicity and knowledge around other conditions like Asperger's or Down Syndrome that it feels like Fragile X is out in the cold, sort of forgotten about."

Darach attends mainstream school, St Senan's in Enniscorthy, and is thriving thanks to the care and support given to him by the school.

"Darach has anxiety and social complications. If you said hello to him, he'd run and hide. He needs the security of routine. He can get upset and disorientated in social situations and yet, in school he is doing very well, so well in fact, that he will make his First Holy Communion next year alongside his classmates, something we thought would never happen."

As it is a genetically inherited condition, when one child in a family is diagnosed, there are huge implications for the parents, brothers and sisters of that child and for the extended family. Darach's little brother Oisin (six), is displaying none of the behaviours of full mutation FXS.

Both mothers agree: a diagnosis isn't the end of the world though it can feel like it at the time and can take time to come to terms with.

Sheila adds: "When you are newly diagnosed, you wonder what the future holds. Sadly there is a bit of a stigma attached with an inherited condition like this, but you just get on with it. You have to, for the sake of your child."

European Fragile X Awareness Day is on Nov 18

Further information is available from www.fragilex-ireland.org and also www.fragilex.org.uk

Centre for Medical Genetics -- www.genetics.ie

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