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Race against time for brave Melbourne toddler who was born with incredibly rare brain disease

A desperate mother is scrambling to raise enough money to fund lifesaving treatment for her three-year-old son who has an incredibly rare brain disease. 

Jahleel Marsh, from Melbourne, has Aromatic Amino Acid Decarboxylase Deficiency (AADD) - a neurological genetic disorder which affects the way signals are passed between certain cells in the nervous system.

The disorder means the cheeky little boy has had to spend most of his short life in hospital due to his complex health issues. 

Jahleel Marsh, from Melbourne, has Aromatic Amino Acid Decarboxylase Deficiency (AADD) - a neurological genetic disorder which affects the way signals are passed between certain cells in the nervous system

The disorder means the cheeky little boy has had to spend most of his short life in hospital (Jaheel pictured, centre, with his brother, left, and mother Bec, right)

He is a quadriplegic with an immunodeficiency. He has breathing issues and vomits multiple times a day and can't speak or walk on his own. 

His mother Bec Marsh lives in constant fear that her baby might die due to his complex health issues.

However, there is hope for little Jahleel. 

Doctors in Poland have developed a Gene Replacement Therapy, which could change Jahleel's life forever, allowing him to learn to walk, talk and eat on his own. 

The therapy involves replacing the defective gene with a copy of the gene that works in the hopes of improving symptoms and potentially curing patients. 

Ms Marsh has launched a fundraising page in the hopes of funding the treatment, which costs €70 000 (AU$116,478). 

His mother Bec Marsh lives in constant fear that her baby might die due to his complex health issues

It has been heartbreaking to watch her son grow up trapped in a wheelchair, Ms Marsh said

What is Aromatic Amino Acid Decarboxylase Deficiency?

Aromatic Amino Acid Decarboxylase Deficiency (AADD) is a rare brain disorder caused by mutations in the gene, which encodes an enzyme called aromatic L-amino acid decarboxylase.

It can cause severe developmental delay, weak muscle tone, muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs. 

Patients may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. 

Source: Genetics Home Reference  

'This operation will help unlock him because he is basically trapped in a body that does not work,' his mother wrote on a fundraising page.

'There is such a beautiful, gentle, cheeky soul that is trapped in his body.' 

Jahleel was diagnosed with the disorder, which affects about 130 children across the world, when he was just three-months-old. 

It has been heartbreaking to watch her son grow up trapped in a wheelchair, Ms Marsh said.

'He is dying to get out of his wheelchair pram and run around with his older brother and other kids.

'He actively seeks out the laughter of other kids when he hears them it delights him so much. 

'He has a contagious chuckle that brings a smile to everyone that has heard it.'