Rare disease a family fight

Not a day goes by where Amanda Tionisio is not worried about her children's health.

The Baldivis family suffer from Hereditary Angioedema, a rare disease which can cause attacks of swelling in body tissue.

The condition can be life threatening with extremely painful swelling occurring externally in the hands, feet, arms, legs, or internally in organs.

A member of the HAE Australasia board, Mrs Tionisio wants to raise awareness of the rare genetic disorder to help others who may be unaware they have the condition.

Mrs Tionisio was diagnosed at age 5 when her father received a diagnosis after his condition was treated as an allergy for many years.

She said the defected C1 inhibitor gene which causes HAE had been passed on to her and three of her siblings.

"In other people the C1 inhibitor gene stops the capillaries leaking fluid, but we have a defect in that gene so the capillaries leak and continue to leak, which causes the swelling," Mrs Tionisio said.

Now, as well as herself, she has to be on the lookout for two of her four children - Kahlani, 9, and Malia, 7 - who have the gene and are now having regular attacks.

Mrs Tionisio said her worst attack was when she was an 18-year-old and woke with a swollen face after sleeping heavily on one side.

The swelling spread to her throat and began closing her airways.

"That is the scariest thing with my kids. Any kind of trauma can trigger the swelling, or sometimes it just happens," she said.

Mrs Tionisio said life could be tough for the girls who could not risk playing sport and often missed school, but they still led a happy life.

"We take every day as it comes," she said.

"We try to adapt. We don't want them to grow up feeling different or being depressed about having it, but they have to be aware."

Mrs Tionisio said injections were available when attacks occurred.

Despite the risk, the family took part in the HBF Run for a Reason 4km walk to raise awareness.

For more information head to www.haeaustralasia.org.au .