Smith-Magenis Syndrome: Plight of boy who cries to music
The family of a boy who has a condition that makes him cry when he hears music hope raising awareness about him will make people more understanding.
Louis Mushrow, nine, has the rare, genetic Smith-Magenis Syndrome (SMS), which also makes it hard for him to eat and sleep, and can affect behaviour.
His parents, from Hawarden, Flintshire, say people can make nasty comments as they are not aware of the condition.
They hope by educating people about SMS, Louis's future will be easier.
SMS, a developmental disorder that affects one in 25,000 people, can make life challenging for all the family.
Louis has disturbed sleep, hearing and speech difficulties, and problems eating - he used to be afraid of food because he was unable to eat or drink without choking until he was three.
- Smith-Magenis Syndrome(SMS) is a genetic disability due to an abnormality of chromosome 17
- The major features of SMS include mild to moderate intellectual disability
- During infancy there can be feeding problems, failure to thrive, weak muscle tone, prolonged napping and lethargy
- Then later in childhood and adulthood there can be the development of disturbed sleep patterns (difficulty falling asleep, regular waking throughout the night and sleepiness in the day), as well as behavioural problems
- These behaviour problems can be exhibited in a variety of ways: Frequent temper tantrums, impulsivity, anxiety, distractibility, aggression and self-injurious behaviours including self-hitting, self-biting and skin picking
- SMS affects an estimated one in 25,000 individuals
- SMS is typically not inherited and people with the condition most often have no history of the condition in their family
- It usually results from a genetic change in early fetal development
Certain music, such as classical or love songs, also makes Louis cry because it releases emotions in his brain.
His mother Lisa said that she realised the effect some songs could have on him when he started sobbing to the Welsh national anthem at a school Eisteddfod.
"People sometimes think he's crying because he's upset," she said.
"We found out it's because certain music releases all these emotions in his brain.
"He does the same when he becomes really excited about something. We can't really explain it - it's just the way his brain is wired up."
Louis was born six weeks prematurely and stayed in hospital for nine weeks.
He would not feed on his own but doctors initially thought this was a result of him being born prematurely.
"As a mum I just knew something wasn't right," said Mrs Mushrow, who has two other children with husband Martin - Adam, 14 and Hannah, three.
"So we decided to have genetic testing done. The results came back saying he had Smith-Magenis Syndrome.
"We walked away with a sickening feeling. It was the worst day of our lives."
End Quote Lisa Mushrow Mother
We were lucky that Louis had the genetic tests at nine weeks old and that's meant we've been able to get specialist help for him”
The family said that after the diagnosis they were given little information about the syndrome beyond one leaflet and had to do their own research.
They made contact with other families and now hope to highlight the condition on Friday's Jeans for Genes Day - when people can wear jeans to school or work for the day while donating money to the charity.
Mrs Mushrow said even medical professionals had often not heard of the syndrome, which was only discovered in the 1980s.
While research is being conducted in the United States, she said the UK did not yet have a specialist in SMS and she often needed to tell doctors about it when she took Louis to see them.
"It's like a learning curve for all of us and that's why I want to raise awareness about it," she said.
"Equally there could be other parents who might not be aware their child has the syndrome.
"We were lucky that Louis had the genetic tests at nine weeks old and that's meant we've been able to get specialist help for him."'Nasty comments'
In particular, the family hope that by educating people about Louis's condition, it will help others to understand that he is not a naughty child.
"Louis can have quite bad behaviour because of the condition and we do have nasty comments from people," she said.
End Quote Lisa Mushrow
I hope that he'll go on to college one day. I just want him to be safe and happy”
"Once when we were in a retail park he was on the floor screaming when a gentleman said to us 'sort your son out'.
"I can only go to the supermarket for a few things at a time as he can't cope with too much at once.
"We have had him picking up a tin and throwing it.
"You get dirty looks and people tell you to control your child. But Louis can't help it.
"People don't understand because he doesn't look like he has special needs. People look at us and think we're bad parents."
She said awareness was key to helping improve life for her son.
For instance, the family invited his teachers to attend an SMS Foundation conference.
"Louis's teachers changed his education programme as a result so he could sleep for an hour in the middle of the day, which has helped his learning," she added.
Despite his problems, his mother says that Louis has an infectious personality.
"He makes everyone laugh at school," she said.
"And he'll often say things like 'I love you mummy' or 'I want cuddles'.
"When you've had a hard day, hearing something like that is really nice."
She added: "I hope that he'll go on to college one day. I just want him to be safe and happy."