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98 %
£69,123
raised of £70,000 target
by 1,143 supporters
Andy Hill avatar
Andy Hill

#oneRAREstep

Raising funds for a lifesaving treatment in poland for The AADC Research Trust because I want to sit up and play with my sisters and Toys

98 %
£69,123
raised of £70,000 target
by 1,143 supporters

#oneRAREstep

WITH YOUR HELP... The AADC Trust is launching the #oneRAREstep Campaign to raise funds for our AADCd children to access potentially life saving & transformative experimental brain delivered AAV2-hAADC Gene Replacement Therapy Treatment. THANK YOU

Charity Registration No. 1114367

Story

Hello my name is Hallie and I am
6 years old . I am a happy little girl with a beaming smile!

I was diagnosed with AADC ( Aromatic Amino Acid Decarboxylase Deficiency) at 6 months old. The simplest way of describing this is that it is an infant form of Parkinson’s which is a life limiting disease. It is a genetically inherited neurological and muscular disorder which affects the brains ability to produce dopamine and serotonin that carry signals between nerve cells and the brain.

I have undergone numerous operations in my 6 short years of life, to help with the many symptoms AADC causes me. I have a feeding tube to meet my nutritional needs and take a cocktail of medication three times a day which have some nasty side affects and interactions. Most of my medications are only used in adults to help treat Parkinson like symptoms.

AADC affects my mobility and development.
I fight against AADC every day including severely painful oculogyric crisis’ which is very similar to a seizure. My eyes fixate upwards and my whole body turns stiff. My muscles ache and it causes me immense pain. Every 3 days I experience this and they can last for hours.

I can’t sit up or walk due to my condition or play with my toys unaided. I can’t vocalise my needs which is so frustrating for me.

This disease is extremely rare and currently only 130 cases are diagnosed worldwide. There are currently only 5 children in the uk diagnosed and I am the only female. There is currently no cure for this life-limiting condition. However there is a new pioneering treatment known as gene therapy available that could change my life completely.

I would love to have the opportunity to travel to Poland for this life changing new treatment. A treatment which could change my life completely and release me from the restrictions of my own body and give me a better quality of life and most importantly SAVE my life!

This new treatment provides me and my family HOPE. Hope to see me released from
My body I am trapped in and release me from the pain and suffering this condition causes me on a daily basis.

I would be most grateful of any financial help towards funding this procedure for Gene Therapy.

It would mean the world to me to be given a new lease of life without the pain and suffering I currently endure with this debilitating disease. Currently 3 children a year lose their life to this life threatening disease. Please help to change these statistics.

Lots of love 
Hallie XxX

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