Updated: Saturday, 21st April 2018 @ 7:18am

Must be an angel: Brave girl with rare disorder can't talk or sleep... but can never stop smiling

Must be an angel: Brave girl with rare disorder can't talk or sleep... but can never stop smiling

| By Lucy Varley – MM exclusive

There is no feeling in the world more magical than receiving the news that you’re going to have a baby.

To carry a tiny, but precious life inside you is the most rewarding thing a woman can do in her lifetime.

But what happens when you are told that your child will arrive into the world with a life-changing condition?

Kathy Adams was devastated to receive the heartbreaking news that her daughter Melissa had Angelman Syndrome in 2006 – but was inspired to set up the Melissa Adams Angelman Foundation alongside other members of the family and friends.

The foundation has ambitions to assume a major supporting role in the research process to treat and cure the syndrome.

Angelman Syndrome, often referred to as simply AS is a complex genetic disorder which affects approximately one-in-20,000 individuals.

It is characterised by those affected always wearing a smile, and are often very excitable and hyperactive.

Melissa, who is just 11, is always smiling despite the daily battle she faces.

The condition means she can't talk and barely sleeps, while she struggles to engage with the world around her.

BEATING THE CYCLE: Melissa's foundation hopes to one day cure Angelman Syndrome

Other characteristic features include delayed development, intellectual disability, severe speech impairment – with little, if any verbalisation – and problems with movement and balance (also known as ataxia).

In addition, most of those affected by the condition also experience epileptic seizures.

Kathy, from St Helens, said: “The simple fact that Angelman Syndrome is a relatively unknown condition, even to the medical profession, made it very difficult to obtain a diagnosis for Melissa.

“Melissa was misdiagnosed with cerebral palsy and autism, but this was even more daunting as there was very little information readily available.”

Over the years, Kathy has dedicated much of her time to learning about the condition and, more importantly, researching to support a possible cure for her daughter’s condition.

“Angelman Syndrome has robbed Melissa of a great deal of future possibilities, she will never have a career, settle down and get married, have children of her own and so many other things that we all take for granted,” said Kathy.

BRAVE FACE: Melissa plays with a canine pal

Angelman syndrome – a condition first identified by Dr Harry Angelman in 1965 – has had an impact on each and every aspect of Melissa’s – and her family’s – lives.

She doesn’t sleep very much and instead survives on 'cat naps' because she struggles to maintain uninterrupted sleep for any length of time.

Once she awakens from a 'cat nap', she is just as active as anybody else would be after eight and ten hours of solid, undisturbed sleep – a pattern that can pose difficulties for her family at times.

But aside from the epilepsy and sleeping issues, the most heartbreaking element of dealing with the condition for Kathy is Melissa’s lack of speech.

Kathy said: “Being unable to speak always seems to be the most cruel aspect of Angelman’s – can you imagine being without your voice for even one day?

“If you take into account that Melissa cannot write and her motor skills are not fine enough to let us know exactly what is wrong.

“She understandably gets very frustrated at times and will hit out or throw things if we cannot understand what she is trying to tell us, if she is in pain or is feeling unwell or unhappy.

ANGEL: Melissa keeps on smiling despite her disorder

“I tell both her and Jacob, her brother, that I love them each night before they go to sleep, and Jacob says it back but to me – I am still hoping and praying that one day Melissa will be able to do the same.”

Kathy, alongside other recruits, set up the Melissa Adams Angelman Foundation to raise awareness of the condition and to support the search into a possible cure.

Kathy told MM that donations will be directed to where they will be put to use most effectively.

“Some of the most aggressive research is being undertaken in the US where they have managed to ‘cure’ Angelman syndrome in a mouse, but much more research is needed before any possible therapy will be put to clinical trials,” said Kathy, before explaining that the only factor standing in the way of a possible cure is the lack of funds.

Kathy explained that her heart aches when she thinks of other kids heading off on their exciting adolescent adventures and beginning a brand new chapter in their lives.

“We have shed a good many tears over the years since Melissa came into our lives,” she said.

“I see her peers heading to high school to begin a new journey, whilst she will head back to the same school in September, still desperately trying to learn to count to 10 and match the letters in her name, it breaks my heart.

“We are very hopeful that, as she gets older, the school will focus more on life skills, how to make something to eat or a hot drink, just so I can rest assured that she will be safe and secure when we are not around to take care of her.”

BAGS PACKED: Melissa's family and friends are climbing Mount Kilimanjaro to raise funds

Foundation supporters are planning a fundraising event next year as they prepare to tackle the mighty Mount Kilimanjaro.

With the hopes of gathering a team of 10-12 passionate people willing to take on the daunting challenge, Melissa’s older brother Jacob – who will be 15 at the time of the climb – is keen to pitch in to aid his sister’s condition.

Kathy is searching for volunteers and possible sponsors for the various legs of the journey.

Each sponsor will receive a special mention on a banner which is to be taken to the summit and photographed at the official signage.

Kathy believes that everybody who meets Melissa takes a little piece of her with them.

She has a smile so contagious it could melt even the iciest of hearts and once you have seen a beautiful angel smile, you will never forget it.

To show your support for the Melissa Adams Angelman Foundation, visit their website or follow Melissa's journey on Twitter @katangelman15.