Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

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.  He loves music and his karaoke machine.  Jake also has a fascination with water so swimming is a favourite activity.  He dislikes face painting, masks, fancy dress and animated characters.

Jake has Angelman Syndrome. 

Jake has a severe learning disability and has complex communication needs.  He needs help with dressing, toileting and everyday tasks.  He also needs constant supervision to ensure his safety as he has no sense of danger.  Jake has a sleep disorder so needs very little sleep which can be exhausting.  He also has some sensory and anxiety problems.  He can be hyper, especially when excited, or wound up.  His behaviour can sometimes be challenging 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.

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 as not knowing what the future holds in terms of development causes considerable anxiety.

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 was quite some time before Jake was diagnosed.  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. 

For more information and support you can contact ASSERT via http://www.angelmanuk.org/, F.A.S.t group which is the foundation of Angelman syndrome therapeutics based in America on http://cureangelman.net/ and Angelman connections on https://www.facebook.com/groups/angelmanconnections/?ref=ts&fref=ts

Find out about some of the other children taking part in the Rare Project by clicking here and if you would like to take part please contact us.

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