Perth Voice Interactive

FOUR-YEAR-OLD Téa Lake can barely move or communicate.

She has tubes inserted into her stomach and lower intestine to administer medicine and enable digestion.

If that wasn’t enough, she takes potent tranquillisers four times a day to prevent severe epileptic fits.

Téa is the only person in Australian known to be born with microcephaly-capillary malformation syndrome, a rare genetic condition that causes multiple brain abnormalities.

Another 18 people are known to suffer from the condition in America.

Bayswater city councillor Martin Toldo says his grand-daughter requires care 24 hours a day.

“We are looking after Téa this week to give my daughter Julie a well-deserved break,” he says.

“She is off to Bali with her husband to recuperate.

“Julie gets help from Senses and the MS Society, but looking after Téa is exhausting and emotionally draining.”

To help raise money for genetic research, Cr Toldo has formed the charity Téa Lake and the rare disease association.

Professor Jenefer Blachwell, a Telethon kids institute director and geneticist, says “rare” diseases do not attract as much publicity and funding as self-inflicted first-world diseases such as type 2 diabetes and (for most sufferers) heart disease.

“Although these genetic conditions are individually rare; they actually affect around 10 per cent of the population,” she says.

“Where other diseases can be related to lifestyle choice, genetic disorders are arbitrary and you have no choice in the matter.

“Funding research is vital to understanding and treating these genetic anomalies.”

Prof Blachwell says the goal is to enable quicker diagnosis of the condition after a child is born, better treatment, and offer parents a choice if they are likely to have, or are carrying, a baby with the condition.

Cr Toldo will officially launch the Téa Lake charity at Maylands Rise on February 20.

The fundraiser will include speeches from Professor Blachwell and Dr Gareth Baynam on the importance of genetic research.

“We have already raised $14,000 and will present $10,000 to the Kids Institute at the charity launch,” Cr Toldo says.

by STEPHEN POLLOCK