An Irish mother is pleading with the public to help fund a potentially life-changing treatment for her four-year-old son who is the only child in Ireland to be diagnosed with a rare neurological condition.
Luke Styles, was born with aromatic amino acid decarboxylase deficiency (AADC), a condition that affects just 150 children worldwide and is described as “like a form of baby Parkinson’s.”
Diagnosed at five months old, Luke is non-verbal and cannot walk but his family now hopes that revolutionary gene therapy available in Poland could make a massive change to his life.
“Thank you for visiting my page, my name is Luke and I am 4 years old. I'm the only child from Ireland diagnosed with an extremely rare neurological condition called AADC, the easiest way to explain it is like a form of baby Parkinson’s but comes with many other issues too,” the family’s JustGiving page reads.
“There are roughly 130 kids worldwide with the same condition I have. This is a life-threatening condition; on average 3 children sadly pass away each year as a result of the condition.”
Luke currently has to take 21 different doses of medication a day to deal with the condition but still needs 24-hour care, being completely dependent on the care of his family.
“My body and brain don't work the same way yours do,” the page continues.
“I can't eat orally and I am on a daily cocktail of many medications to help with my symptoms, but unfortunately, they have a lot of bad side effects too. My days can consist of uncontrollable movements that can be very painful for me, normal illnesses such as colds and flu can be very bad for me so sleepovers in the hospital are very frequent.
“Due to my low muscle tone, I am prone to aspirating, which can feel like I’m drowning on my saliva and sadly often results in pneumonia. I suffer from a seizure-like symptom called an oculogyric crisis roughly once a week. I need strong sedatives to stop my body from moving so much from the medication I am on so I can sleep. I am also non-verbal so it’s difficult for me to communicate when I’m in pain.
“My body is failing me, I want to have the same chance as everyone else so hopefully I can sit up alone, crawl, walk, talk and move freely and maybe someday tell my family I love them. It’s my dream to someday be able to play with my big brother and do the things other kids take for granted but despite the difficulties, life has dealt me, I still manage to smile and giggle. I need round the clock care but my many nurses and carers adore me because of my cheeky charm.
“I have been waiting all of my life for the opportunity of gene therapy and finally the time has come! Please help me on my journey to get this life-changing gene therapy as soon as possible; I will be traveling to Poland for the treatment, which could very well save my life. I'm very excited for what's to come and hope to have the chance at a better quality of life!
“Thank you for helping me to change my world!”
“A breakthrough in medicine has finally become available in Poland,” Luke’s Mom Emma explained to Dublin Live.
“It is a brain operation, a vector is implanted into a targeted part of the brain which will help Luke regenerate the neurotransmitters he is missing.
“Five children have already received this therapy and are making great progress. They are coming off long-term medications, their symptoms have lessened, their muscle tone is improving and they are more responsive.
“If Luke was to undergo this treatment then it could save his life. He would be able to take his first steps and start communicating. It would be life-changing.
“The surgery itself is still in trials so the Government won't fund it, but it is Luke’s only hope. It is a non-profit cost of €70,000 [$77,300].
“Unfortunately he had a viral infection last Wednesday and needed to be admitted to hospital.
“The next day he had to be transferred to ICU for non-invasive ventilation. He is so vulnerable - but a fighter. He is ready to go back onto the normal ward today.