JAKE
“Jake is a happy, sociable boy who loves meeting people. He loves his family and friends and thinks nothing of going up to strangers and hugging them”.
“Jake loves music and his karaoke machine. He also has a fascination with water so swimming is a favourite activity. He dislikes face painting, masks, fancy dress and animated characters.”
“His smile says a thousand words”
Jake has Angelman Syndrome. He has a severe learning disability and complex communication needs. As a consequence of this, Jake needs help with his daily activities such as dressing and toileting as well as requiring constant supervision to ensure his safety as he has no sense of danger. We spoke to Jake’s parents to find out more about him and how Angelman Syndrome affects their family:
“Due to Jake’s sleep disorder he needs very little sleep which can be exhausting. He also has some sensory and anxiety problems. Like most children, he can be extremely hyper, especially when excited, or wound up. It can be challenging sometimes, his behaviour, usually due to frustration with communication. Jake’s mobility can be unsteady and he will frequently refuse to walk or will stumble and he has a depth perception problem with his eyes and so he needs to wear glasses.
Most people who meet Jake are greeted with a hug but then they struggle to communicate with him. His smile says a thousand words. Some people have misunderstood our need to use sign and assumed that he is deaf but he is non-verbal. We find most people warm to Jake but some smaller children can be intimidated as he invades their space. If he is having a meltdown in public people often don’t know how to react as he can behave erratically and can shout & scream”.
Asking Jake’s family about the value of raising awareness disease, they responded:
“I think it is important that people have a better understanding of rare diseases. I believe that with greater awareness there will be more acceptance. We have found that children are often much more accepting than some adults. Prior to Jake’s diagnosis at 7 we had never heard of his condition. I wished I had; not knowing what the future holds in terms of development causes considerable anxiety”.
“It was quite some time before Jake was diagnosed”
“If there was greater awareness of rare diseases, health visitors and medical professionals would be better placed to give earlier diagnosis and support the families. It did take quite some time before Jake was diagnosed, after which I was put in touch with ASSERT and their support has been invaluable to us. We also use Angelman connections via Facebook which connects families all over the world."
FIND OUT MORE
ANGELMAN SYNDROME
Angelman syndrome is, strictly speaking, not a disease. It is a neurological disorder that causes severe learning difficulties, and although those affected have a normal life expectancy, they will require looking after throughout their lives.
The syndrome – originally called ‘Happy Puppet Syndrome’ because of the characteristic happy demeanour and stiff jerky movements of the children – was renamed Angelman Syndrome (AS) in 1982. Although at first little was known and few cases identified, the last four decades have seen a burgeoning of research and understanding into the syndrome. The 1980’s advances in genetic medicine made it possible to diagnose increasing numbers of cases and also to start identifying the cause.
In simple terms, Angelman Syndrome is a chromosome disorder that causes severe learning difficulties. It is now known that irregularities in Chromosome 15 are responsible for the syndrome. However, it is also known that there are several different irregularities that can occur in Chromosome 15, all of which result in a diagnosis of AS.
To learn more about Angelman syndrome, click here.
Angelman Syndrome UK
Angelman Syndrome UK are a volunteer-led registered charity based in the UK. They are run by a dedicated team of trustees who are all parents or siblings of someone with Angelman syndrome. They aim to support people with AS and their families as well as carers of people with AS. They also support professionals working with a person with AS, who may have met very few or no other individuals with Angelman Syndrome in their professional career.
Angelman Syndrome UK aims to educate and raise awareness of AS and the issues that surround it. They are equally invested in assisting organisations and individuals in carrying out research, being one of the founding members of the international Angelman Syndrome Alliance – a cross border research initiative that is allowing smaller groups to pool resources for the benefit of all.
To find out more about Angelman Syndrome UK and how they can support you, click here.
Don't forget to visit and 'Like' our Facebook page too so we can keep you up to date with our new rare stories by clicking here.