How research into rare diseases can save lives | Action Medical Research

Touching Lives - October 2012

How research into rare diseases can save lives

Those first few days and weeks with a new baby are meant to be the happiest time of your lives, but we were going through hell,” says Scarlett’s mum Abbie. New mothers expect to leave hospital with their healthy baby the next day. But it took five weeks before Scarlett Fifield was allowed home with her parents.

Scarlett had her first seizure at just three hours old – and more followed during the next 24 hours, getting progressively worse. She was transferred to the neonatal intensive care unit for monitoring and treatment and was in an incubator for three days. Medications were given intravenously into her tiny veins to control her seizures.

At two weeks old Scarlett was diagnosed with the rare illness hyperekplexia, also known as startle disease. Babies with hyperekplexia react in an exaggerated way when startled. They become rigid, unable to move and sometimes stop breathing, which can prove fatal. Things that prompt the startle reaction include sudden unexpected noises, movements and touches, and unexpected sight of people or objects.

Symptoms often fade by the time babies reach their first birthday, but they can continue throughout childhood and into adulthood. Some children experience severe breathing problems, while others have learning difficulties.

Although various tests and a Magnetic Resonance Imaging (MRI) scan turned out to be normal, clearly something was seriously wrong. While in hospital Scarlett had her first apnoea attack, when the muscles and soft tissues in her throat relaxed and collapsed, obstructing her breathing. “This was so very frightening to watch. Our baby went blue and shook from head to toe,” remembers mum Abbie. “We could see that Scarlett was frightened and in pain and we could do nothing to stop it. We felt so helpless.”

After so much heartache in such a short time, mum Abbie and dad Luke were relieved to receive the diagnosis from the neurologist. It was the uncertainty that had been hardest – a diagnosis meant that the right treatment could begin and after five long weeks they could take her home.

It took a while for Scarlett to be stabilised. Her seizures are now mostly well controlled with medication but she still has around four a week, mainly while sleeping. She wears an oxygen saturation monitor at bedtime which alerts her parents to a seizure.

Since the diagnosis the entire family has been educated about startle disease so that they’re all equipped to deal with a seizure and give her the medication she needs. They also know how to give cardiopulmonary resuscitation in case of an emergency following an apnoea attack.

Abbie says: “We deal with these apnoea attacks by sitting her up then bending her upper body over and putting her head down between her knees. This means she never gets to the distressing stage where she turns blue.” Scarlett is nearly a year old, with a wonderful personality. She seems content despite her distressing condition and recently learnt how to laugh, which she loves. She does not like loud noises, such as the vacuum cleaner or hairdryer, particularly when she is not being held. This can be stressful for the family who have had to learn how to adapt. They decided to help Action Medical Research when they realised the critical need for research into this rare disease. Abbie says: “The research will give the health professionals much more of an understanding of hyperekplexia and potentially save other sick and vulnerable babies the trauma that Scarlett went through and may even save a baby’s life.”

How you are helping children like Scarlett

With your help Action Medical Research funding has enabled scientists at the University College of London School of Pharmacy and the Institute for Life Science in Swansea to identify novel changes in a key gene in startle disease. Around three fifths of cases remain unexplained.

Mutations in a particular gene were previously thought to be the only major cause of the disease. However, the team has identified mutations  in a second gene as another major cause. It is hoped this research will help lead to a new genetic test and more effective treatment for babies and children worldwide.





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