Rare Diseases Day: 'Iyla, 5, is such a joy' | Latest news

Around 3.5m people in the UK are living with a rare condition. On Rare Diseases Day Reanna Bickley talks about the impact Angelman Syndrome has had on her family’s life.

Iyla is like any typical 5-year-old; she loves Wotsits, Mr Tumble, and playing with her big sister Evie. With corkscrew blonde curls, big blue eyes, and a cheeky smile.

But Iyla is anything but typical. She is one in around 20,000 people in the world with Angelman syndrome, a complex neurogenetic condition. She was diagnosed at Nottingham City Hospital three years ago.

“The diagnosis was a bolt from the blue,” says mum Reanna. “It’s only really in this last year that I have started to understand Iyla and her syndrome. I always understood her as a baby but now she is growing older, I’m learning so much about her.”

Dr Rachel Harrison is a consultant in Clinical Genetics at Nottingham University Hospitals NHS Trust. She said: “Delays in development are usually noticed in the first year of life in children with Angelman syndrome. Early features can be similar to many other conditions, so it may take a while for a diagnosis to be made, but this is often in early childhood. 

“Other features can include seizures, very limited speech, difficulties with balance and walking, and sleep disorders – these tend to become apparent gradually over time.  Children tend to be very friendly, smiley and curious – they are often a delight to meet.”

The syndrome is caused by one of several different types of variation in a region of Chromosome 15, all involving the UBE3A gene. Both Reanna and dad Jack have been tested and neither have the same gene variant’

Reanna contacted her health visitor when she realised that Iyla wasn’t hitting her milestones; she was choking on her feed, not swallowing well, not sitting up, and not interacting with her toys.

An MRI showed a lesion in Iyla’s brain. Doctors suspected cerebral palsy but a paediatrician later confirmed that Iyla had Angelman syndrome and epilepsy. Physiotherapy, occupational therapy, and speech therapy services all became involved, and Reanna gave up her job in NUH laundry services to become a full-time carer.

“Angelman’s isn’t progressive but Iyla will always need care,” says Reanna. “She will never be independent and will probably always be non-verbal. I worry about who will look after her when me and her dad get old.”

Reanna has joined online Angelman’s support groups but desperately wants to raise awareness. “No one knows what Angelman’s is. Even some health professionals we meet have never heard of it.

“Iyla giggles a lot. I get told all the time what a happy child she is. But when she is hurt, her brain still tells her to laugh. Now, if she wobbles her bottom lip, even if she is laughing, we know she’s hurt.

“When you get told your child is disabled, it’s scary and daunting. But it gives you such a different perspective on life. I used to take life for granted, I don’t anymore – I appreciate it and I appreciate Iyla. She is just a joy. You can be having a down day and she just makes it better.”

UK support group: Angelman Syndrome

Angelman syndrome - NHS (www.nhs.uk)

 

NOTES

Angelman Syndrome (AS) is a rare neurological disorder affecting around 1:20,000 births. Characteristic features include delayed development, severe learning difficulties, little or no speech and issues with movement and balance. Although those affected have a normal life expectancy, they will require support throughout their lives.

It is caused by one of several different types of disruptions of a region of Chromosome 15, all involving a single gene, UBE3A.

AS was first identified in 1965 by a British doctor, Harry Angelman, who noticed similarities between undiagnosed children under his care. Advances in genetic medicine in the 1980s made it possible to diagnose more people and to start identifying the cause.

There is a UK support group Angelman Syndrome - UK Support, Education and Research Trust - Angelman Syndrome (angelmanuk.org).

A rare condition is defined as a condition that affects fewer than 1 in 2,000 people. However, there are around 7,000 rare conditions, with more being identified as science progresses, and 1 in 17 people are affected by a rare condition at some point in their lives.

Rare Disease Day is a global alliance pushing for lasting change that improves the lives of everyone affected by a rare condition, with the UK initiative lead by Rare Disease UK.