Natalie Phillips

Jamesy Boy's Page

Fundraising for Batten Disease Family Association
£5,916
raised of £6,000 target
by 96 supporters
Donations cannot currently be made to this page
Batten Disease Family Association

Verified by JustGiving

RCN 1084908, SC047408
We fund research and support families to find a cure to Batten disease

Story

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James was born in 2011. At the age of two we began to become aware that James had a delayed development, he was later than the average age for walking, talking and so on. James was a happy and healthy little boy and we were under no illusions that he would ‘catch up’ at his own speed. Shortly before he turned three James began to suffer from seizures that would take the form of absences. He would lose control of his body and although remain conscious would be absent and almost comatose only being capable of producing very weak squeals as he stared into the far distance  Each one of these seizures were terrifying and seemed to have a more debilitating and prolonged effect than the previous one. Following a series of these seizures James was diagnosed as having epilepsy and tests were carried out checking for a little known disease called Battens which, we were told, was so rare that the odds were in the hundreds of thousands to one.

On the 20-07-14 James’ neurological peadiatrician broke the news to his mum Kate that he did indeed have CLN2 Late Infantile Batten Disease. A fatal disease that would over time cause James to suffer mental impairment, worsening seizures and progressive loss of both his sight and motor skills. As well as this James may have difficulties sleeping and become distressed for no apparent reason. He will lose his ability to sit and hold his head and will eventually need to be tube fed. Chest infections will become frequent as James' immune system fails and suctioning will be required to maintain his airways. Eventualy James will become blind, bedridden and demented. The disease is always fatal, with death usually happening between the ages of five and twelve.

At this moment in time James is blissfully ignorant of his diagnosis and although tires quite easily is a rough and tumble, happy go lucky little boy who loves to play with his cousin Tom-Tom and watch Mr Tumbles. The onset of the disease can occur at any time and we are determined to surround James with positivity and ensure he has every opportunity of happiness before he becomes ill.

Our fundraising will help to support this and pay for special needs/sensory toys to help James maintain and develop new skills, physiotherapy to support James keeping mobile and active for as long as possible and any medical equipment he will need in his battle against Battens. We are also planning to send James on the holiday of a lifetime while he can still enjoy one. James will also support the BDFA who fund research into Batten disease and help other families affected by this heartbreaking disease. James will do this by donating 20% of everything he raises through his JustGiving page.

James has been accepted onto a clinical trial that is being conducted at Great Ormond Street Hospital in November. The trial will last 48 weeks and is being undertaken to examine whether a new experimental drug is safe for children and to assess if it can alter the progression of the disease. The trial offers a small glimmer of hope where absolutely none existed.

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About the charity

Batten Disease Family Association

Verified by JustGiving

RCN 1084908, SC047408
Batten disease is a group of rare, progressive neurodegenerative, genetic metabolic diseases that occur in children & adults worldwide. The BDFA's Vision is to be the central point of excellence in the UK for supporting affected families funding research into a potential cure.

Donation summary

Total raised
£5,915.87
+ £1,094.00 Gift Aid
Online donations
£5,915.87
Offline donations
£0.00

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