The 12 year old with a rare form of Parkinson’s

Affecting around 100 people worldwide, Aromatic Amino Acid Decarboxylase Deficiency is an incredibly rare form of Parkinson’s found in children.

Marcus Allen is a 12 year old boy living in Stockport, UK. He loves listening to music, spending time with his family and being a big brother to Noah and Jacob. Unfortunately, Marcus suffers from a rare form of Parkinson’s disease, Aromatic Amino Acid Decarboxylase Deficiency (AADC).

Around 100 people suffer from AADC worldwide, with only a handful being based in the UK. Unfortunately, a cure has not yet been found for AADC, however, there are two treatments for the condition.

The treatment is rarely funded by the British National Health Service (NHS), and so, Marcus and others effected by AADC have to try to raise the money in order to get this life changing treatment.

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What is AADC?

According the the AADC Research Trust:”AADC deficiency is caused by mutations in a single gene called DDC. Because of these mutations patients are unable to produce two chemicals called dopamine and serotonin. These chemicals act as neurotransmitters to carry signals between nerve cells in the brain. Current treatments for AADC deficiency try to increase or replace these chemicals but do not work well for most patients and often have serious side-effects.”

What are the symptoms?

The Genetic and Rare Diseases information centre stated:”Symptoms of aromatic l-amino acid decarboxylase (AADC) deficiency typically present during the first year of life. Symptoms may include severe delay in reaching milestones such as walking and talking (developmental delay), weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). This condition may also cause infants to lack energy, feed poorly, startle easily, and have sleep disturbances.

“Many people with AADC deficiency experience episodes called oculogyric crises (also called “spells” or “attacks”), which are characterized by abnormal rotation of the eyeballs, extreme irritability and agitation, pain, muscle spasms, and uncontrolled movements of the head and neck. These episodes can last for many hours and can be times of extreme concern for caregivers and family members.”

Marcus birthday

How is AADC treated?

Marcus’ family are currently trying to raise enough money in order to pay for a special type of gene therapy in Poland. The therapy costs around €79,000 or £70,000. The NHS have said that they will not cover the surgery, so they will have to raise the money on their own. There have been a variety of successes in this treatment with the effects radically changing the quality of life of those suffering from AADC.

According to the AADC Research Trust: “In order for the AAV2-hAADC vector to be delivered to the correct brain cells it needs to be directly injected into a specific region of the brain. Professor Krystof Bankiewicz and his team have developed pioneering surgical techniques to ensure accurate delivery of a vector to the selected brain region. The system uses a specially designed cannula that is inserted into the brain to allow direct infusion of a liquid containing the AAV2-hAADC vector. The patient’s head is placed in a specialised stereotactic frame and cannula guide devices are attached. Real-time MRI imaging of the patient’s brain is used to map the target region, plan cannula insertion and positioning, and calculate how much vector to infuse.”

 

How can you help?

Any donation will help Marcus take one step closer to receiving a treatment that will absolutely change his life. To donate click here.

Watch the fundraising slideshow here.

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