A seven-month-old girl has a rare genetic condition that means she only sleeps for four hours a day, never cries and is almost always smiling.
Fiadh Baird was born three weeks early at Melbourne Women’s Hospital on April 18 this year.
Like most premature babies, she slept for the first week of her life, until she suddenly woke and screamed – non-stop, for 24 hours a day.
Her mother Galatea Young told Daily Mail Australia the crying finally ended when Fiadh was put on medication for colic and reflux.
But when the wailing was replaced with smiles and laughter at two weeks old, the 28-year-old mother sensed something was wrong.
Fiadh Baird (pictured with her mother Galatea Young) was born three weeks early on April 18 in Melbourne Women’s Hospital
Pictured left: Fiadh in hospital in Melbourne when she was born early. Right: Ms Young in hospital preparing for Fiadh’s birth
Like most premature babies, the infant slept for the first week of her life (pictured with her father Gareth Baird)
‘I’m the oldest of four and there’s a big age gap between my siblings and I, so I’ve been around babies all my life, and I knew mine was different,’ Ms Young said.
‘She stopped sleeping between 10pm and 6am, but she never cried – she just lay there smiling … I knew in my gut there was something different about her.’
After taking her baby to an infant sleep school and being told she was ‘just a good mum’ with a ‘really happy baby’, the new mother booked an appointment with a paediatrician.
She also did her own research online and watched a short video on a condition called Angelman syndrome – a neurological disorder that affects one in 15,000 people.
Pictured: Galatea Young and Gareth Baird holding their newborn daughter Fiadh in Melbourne
When Fiadh started smiling and laughing at the early age of two weeks’ old (right), the 28-year-old knew there was something wrong
Pictured: Ms Young with her daughter in hospital after she was born three weeks early in Melbourne
In the video, the new mum learned that symptoms of the syndrome in very young children include frequent smiling and laughter, colic and reflux, difficulty swallowing and almost never crying.
Fiadh ticked all the boxes.
The paediatrician initially considered Angelman syndrome to be only a remote possibility, but ordered a genetic test to be sure.
On September 29 they mother was told she was right.
It was a devastating diagnosis. While the symptoms may seem benign in a small child, the prognosis for Angelman sufferers is challenging as adults.
Fiadh will grow physically like a typical person, but her neurological development will remain at the level of a toddler.
While people with the syndrome have a normal life expectancy, Fiadh will make a series of primitive sounds for the rest of her life in place of actual words, she may never walk, and she will be almost completely unable to communicate her needs.
‘Angelman kids usually die of the most ordinary things, like sore stomachs and infections that turn into pneumonia because they can’t give you any indication of what’s wrong,’ Ms Young said.
As a result, Fiadh will need constant supervision for the rest of her life.
‘It’s one of the hardest things to hear – your child may never walk or talk or do the things other parents take for granted,’ Ms Young said
People with Angelman syndrome are obsessed with water, Ms Young said. Her daughter loves bath time
Because of her condition, Fiadh will grow physically like a typical person, but her neurological development will remain at that of a toddler’s
‘It totally rocked our worlds,’ she said, also referring to Fiadh’s father Gareth Baird.
‘It’s one of the hardest things to hear – your child may never walk or talk or do the things other parents take for granted.’
Her mother explained that the youngster does get grumpy, but happiness is her natural reaction to most things – and she will smile even when she’s scared or uncomfortable.
‘Sometimes I hear other babies crying or babbling when I’m out, and I kind of wish my baby would cry sometimes because it would mean she’s communicating with me,’ she said.
Fiadh will make a series of primitive sounds for the rest of her life in place of actual words, she may never walk, and she will be almost completely unable to communicate her needs
The infant (pictured with her father) has barely cried since she was ill with reflux and continues to only sleep for four hours
‘People with the condition are like giant toddlers – they’re always picking things up and causing chaos, but at the same time they’re always smiling and they’re the light of everyone’s life.’
The infant has barely cried since she was ill with reflux and continues to only sleep for four hours a day.
Her exhausted mother admitted she has shed tears of frustration, but that her daughter’s big smile compensated for the sleepless nights.
Fiadh was born in Australia, but Ms Young, a former sales worker and full-time mum, is originally from Auckland in New Zealand and her ex partner Mr Baird, an engineer, is from Belfast in Ireland.
Even though Fiadh was born in Australia, Ms Young, a former sales worker and full-time mum, is originally from Auckland in New Zealand and her ex partner Mr Baird, an engineer, is from Belfast in Ireland
The family are therefore unable to gain access to the Australian National Disability Insurance Scheme
The family are therefore unable to gain access to the Australian National Disability Insurance Scheme – paying for every hospital visit and specialist appointment out of their own pockets.
To give her daughter the best possible shot at life, the trio are moving to North Carolina in the US in April so Fiadh can take part in medical trials.
A Go Fund Me campaign has been organised to raise the money for the family to relocate.
They will also donate 10 per cent of all money raised to the Angelman syndrome foundation.
According to Ms Young, the groundbreaking trial works to replicate the protein people with Angelman syndrome are missing.
The missing protein, which goes by the name of UBE3A, is from the maternal side and is responsible for walking, moving and talking.
To give her daughter the best possible shot at life, the trio are moving to North Carolina in the US in April
The trial involves sedating the infant and injecting the protein into her spine every month
‘Five children have received the treatment, and one 11-year-old went from being completely non-verbal to saying nine words in four months, and they’ve all started to walk,’ the hopeful mother said.
‘We don’t know what Fiadh’s outcome will be, but as a parent I couldn’t sleep at night knowing that I didn’t do everything in my power to help her.’
The trial involves sedating the infant and injecting the protein into her spine every month.
While participation in the trial is free and the family will get three injections without having to pay, each monthly jab after that will cost more than $10,000 – which they will have to pay out-of-pocket.
While participation in the trial is free and the family will get three injections without having to pay, each monthly jab after that will cost more than $10,000
Ms Young said children with Angelman syndrome love water so much they will tip cups of drinking water out to play with it
Ms Young knows she will wind up in hospital with Fiadh at some stage, as she had already started having seizures
‘I talked to one mum who lived over there with her son who had Angelman and one overnight hospital trip cost them $US10,000,’ she said.
Upon arrival in the US, the family will have to re-purchase cots, prams, couches to furnish their home, along with paying rent and for their daughter’s ongoing therapies – all of which will amount to hundreds of thousands of dollars.
When asked if there was any limit to the amount the parents would spend, or borrow, trying to gain access to clinical trials and therapies to improve their child’s quality of life, Ms Young said she could never stop trying.
‘There’s the one trial that’s coming up, but then there are two more trials after that, then a third trial we could do years down the track … the $100,000 we want to raise is going to be a really small amount of money in the end.’
‘Every dollar I own goes into my daughter. I would do anything for her.’
WHAT IS ANGELMAN SYNDROME?
Angelman syndrome is a rare neuro-genetic disorder that occurs in one in 15,000 live births.
It was was first identified by Dr. Harry Angelman, an English physician at Warrington General Hospital in 1965.
It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.
Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy. Due to the common characteristics, misdiagnosis occurs often.
People with Angelman have developmental problems that become noticeable by the age of 6 – 12 months.
Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech.
Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with the disorder will light up a room with their smile and laughter.
People with Angelman syndrome tend to live close to a normal life span, but the disorder can’t be cured. Treatment focuses on managing medical, sleep and developmental issues.
Source: Angelman Syndrome Foundation