Rupert the Rare Bear ❤️

Hi my name's Jennie and I'm Mummy to a wonderful little boy, Rupert. He is funny, smart and kind. He is a true animal lover and water baby. He's happiest when he is outside but especially when he is at the beach.

When Rupert was 2yrs old we noticed his legs would go from under him and he would drop to the floor. This became a regular occurrence along with other injuries. Minor bumps and falls would end in swelling, bruising and would result in Rupert not being able to move about properly. No matter how many trips to A&E or how many x-rays we got we were always told the same thing "he's walking on it, he's moving it, he's not reacting when I touch it, he must be fine". See, Rupert is autistic and has Apraxia of Speech* which means he doesn't react to pain like an average person would and can't explain to doctors exactly what he's feeling.

At 4yrs old Rupert was diagnosed with hypermobility and weak core muscles. It was around this time we learnt about Ehlers-Danlos Syndrome (EDS)**. Joint hypermobility and instability, along with Rupert's other health problems, we started to think EDS could be the answer we were looking for. We brought our thoughts to our GP and to a paediatrician who both agreed it could be a possibility but they didn't understand the condition enough to help us. The problem is nobody in Ireland knows enough about EDS to be able to help us.

Rupert is now 7yrs old and for the last three years he has lived with daily dislocations and partial dislocations of his joints. Simple and normal everyday tasks can make his joints dislocate. Rolling over in bed can leave him with a dislocated shoulder, wearing tracksuit pants on his hips can make them move in and out of place. Playing for an hour at softplay with his friends means nights of crying in pain and a week to recover. Rupert loves running around with his friends and will push through the pain because if he doesn't he won't be able to be a kid, he keeps trying to run even though his legs are dropping from under him over and over. He is so used to his joints popping he can put them back into place himself.

The HSE have let him down in so many ways, they promised an AAC device*** to allow him to be able to communicate more freely with everyone around him which a year later we still have not received. They've ignored a heart murmur and sleep apnea. They've missed broken bones on x-rays because he doesn't react or because he's still using his arm, walking on his foot etc. Along with the many food allergies and digestive issues they have told us he will grow out of, it's just something kids have. My faith in the HSE is dwindling daily.

Thankfully we've found a Doctor from London who holds a clinic in Dublin once a month. We were lucky enough to get an appointment last month and it was such a relief to be believed and to get some answers to the many questions we have for Rupert. He has ordered indepth genetic testing for Rupert as a first step and then has referred him to several other specialists. The catch is we need to go to London to see these specialists. The genetic testing alone costs £3500, add on consultant fees, traveling expenses and accomodation it all adds up quickly. I've set this GoFundMe up as a way to raise funds for genetic testing and for getting to London to see the specialists he so badly needs and also for an AAC device.

* Apraxia of Speech is a neurological speech disorder. Basically it's a missing link between your brain and your mouth. Imagine knowing exactly what you want to say but not physically being able to manipulate your mouth into saying it.

** EDS is a connective tissue disorder. Think of the collagen in our bodies as the glue that holds us together. With EDS the collagen is faulty, because collagen is throughout our whole body when it's faulty it can affect every part of our body, our joints, organs, skin, circulation, breathing, everything is affected.

***AAC means alternative augmentative communication, so far for Rupert that has meant Irish Sign Language. But of course not everyone knows ISL and this can lead to frustration for Rupert and other people's dismissal of him because they don't understand him. An AAC device would be an Ipad with a specific app that allows Rupert to communicate and be understood by everyone. He will be able to use pictures and symbols on the app which will then verbalize for him. Reducing frustration and giving him some independence which he craves and deserves.