Hormone and body biochemistry disorders
Hormone and cell function disorders are life-threatening disorders that affect the body’s chemical reactions. They can take years to diagnose in children and too often, there are no treatments available.
What if they could be cured with a single injection?
“You wait nine months to have a lovely bouncing baby, but she was only like that for three days,” says Lara's mum Julie.
Lara was only four days old when she went into a coma and was diagnosed with the rare metabolic condition methylmalonic acidemia (MMA).
The situation today
Children with hormone and cell function disorders are born with genetic mistakes that affect chemical reactions and regulatory systems within their bodies, causing imbalances that stop them from working normally.
Lara can’t break down certain amino acids, leading to the toxic build up of methylmalonic acid in the blood and tissues.
Cell function disorders, otherwise known as metabolic diseases, can lead to permanent organ damage, while hormone conditions can have severe symptoms that affect many different parts of the body and are challenging to treat.
These children often face a shortage of treatment options and an uncertain future. But a deeper understanding of the causes of these illnesses is bringing new hope.
Lara, now 17, needed radical surgery because her condition had caused irreversible damage and last June she had a kidney transplant. She was only the second patient at GOSH with a metabolic condition to undergo this type of operation.
How we’ll help shape the future
We’ll help build on our expertise in treating hormone disorders, including those that affect blood sugar and a condition that affects the pituitary gland, one of the most important hormone glands.
We’ll help uncover more of the genes that underpin conditions and speed up the journey of personalised treatments and even cures into the hospital’s wards. For children with cell function disorders we’re aiming to drive forward treatments that introduce healthy genes to the body.
We’ll help our researchers investigate whether it’s possible to make these treatments so effective that just a single injection could save a child’s life. In years to come we hope children like Lara will not have to undergo the trauma of a transplant.