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Case Studies of Children We've Helped

Oscar Ray Case Study 1

Posted 30/9/2021

How to make a real-life super hero smile!

Oscar Ray is a 3 year old little boy with the following disabilities, a rare form of Epilepsy called ‘Lennox Gastaut Syndrome’, he has gene mutation SCN2A and also global developmental delay. Alongside this he has other complex medical needs including, Gastro-oesophageal (GORD), Early Onset Scoliosis, Cortical Visual Impairment (CVI), Early Onset Precocious Puberty. The main cause to all of Oscar’s condition is genetic. He has a gene mutation called SCN2A. Charlotte and his dad are not the carriers which makes it de novo. A spelling mistake happened within that gene and Oscar is the only one in the world to have this certain gene mutation. Rather than have a T within his SCN2A gene he has a C.

Oscar’s mum is Charlotte, she cares for him 24 hours a day. She has very minimal respite support and is devoted to her young son and caring for his needs. I thought the best way to showcase how difficult this can be was to ask Charlotte herself, in her own words she has written the following abstract.

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Emily's Pamper Party Surprise

Posted 20/9/2021

I first met Emily two years ago at our Christmas party when her mum explained to me that she had got Acute Lymphoblastic Leukaemia. At the time, Emily had just started her treatment. When I immediately met Emily, I realised I wanted More Mascots Please CIC to help her. I met with mum, Kate, as well and I realised how much the family had had to adapt their lives around the diagnosis, and how many times Emily would have to be admitted into hospital for treatment and the negative effects this would have on Emily and the rest of her family. More Mascots Please CIC is very pleased to announce that Emily is now finished with her treatment and has rang the bell of celebration and is currently cancer free. We are delighted that this is the case! 

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Amy and Joe Dimmick Case Study 3

Posted 6/9/2021

I first met Amy and Joe Dimmick in 2016. Amy has Rett Syndrome.

“Rett syndrome is a rare neurological disorder affecting mainly females and very few males. It is present from conception and usually remains undetected until major regression occurs at around one year of age, when children may lose acquired skills and become withdrawn. Genetic but largely not inherited, Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support throughout their lives.” This was gratefully taken from rettuk.org.

Her older brother Joe has Asperger Syndrome.

“Asperger syndrome, or Asperger’s, is a diagnosis on the autism spectrum. Typical to strong verbal language skills and intellectual ability distinguish Asperger syndrome from other types of autism. Asperger syndrome generally involves: difficulty with social interactions, restricted interests, desire for sameness and distinctive strengths.” (autismspeaks.org)

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Dan and Joel Hill Case Study 2

Posted 6/9/2021

Dan Hill is a young man that has a condition called Angelman’s Syndrome.

According to the Angelman’s Syndrome Foundation, “angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide.

People with AS have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures, and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanour. An individual with AS will light up a room with their smile and laughter.” 

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