HORSHAM’S Frawley family is spreading awareness of a rare disease in the hope it will help others recognise the signs.
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Cowden syndrome has affected the Frawley family in a big way, with father Anthony and two of his three children, Connor and Jeremy, showing symptoms.
Cowden syndrome is a hereditary condition that causes tissue overgrowth and results in mostly benign tumours.
Mother Angela Frawley said the PTEN gene, which controls cell growth, did not work when a person was diagnosed with Cowden syndrome.
“It causes genes to mutate however they like, which means they have a bigger chance of getting cancer in general, but certain cancers have been more predominant,” she said.
Mrs Frawley said a woman with Cowden syndrome had an 85 to 90 per cent chance of getting breast cancer compared with someone without Cowden syndrome, who had a five to 10 per cent chance.
People with Cowden syndrome are also more likely to be at risk of developing thyroid, endometrial or colorectal cancer.
Mr Frawley had follicular cancer in 2015.
The rare condition increases developmental delays, increasing the likelihood of autism, ADHD and ODD.
Mrs Frawley said Mr Frawley also had low muscle tone in his knees and other areas of his body.
“Jeremy has global developmental delay and has been diagnosed with autism,” she said.
“He has 25 to 30 words in his vocabulary and is turning four in 2018. Connor had low muscle tone and global developmental delay but because of physio, speech therapy and early intervention he is pretty good now. He has gross motor problems and fine motor problems.
“Our daughter Mia has ADHD and ADD. She struggles with school as well.”
Mrs Frawley has a Facebook page – Raising Hope – Cowdens Syndrome Awareness – where she raises awareness of Cowden syndrome and posts tips for people living with the condition.
“People from oversees follow the group and we share our experiences with each other,” she said.
“I share facts and things like that on the page, I share stories about the kids. When Anthony was diagnosed with cancer I put that up there.”
Mrs Frawley’s aim is to help raise awareness for the syndrome. She also wants to raise money for the PTEN Hamartoma Tumor Syndrome Foundation.
She said people could visit the foundation’s website or search for her GoFundMe page called Jeremys Journey to donate to the foundation.
Mrs Frawley said Jeremy was the most affected by Cowden syndrome in the Frawley family.
She said she started the GoFundMe page when the family was going through a very tough time.
“At the time he wasn’t walking and wasn’t talking,” she said.
Mrs Frawley would love to raise as much awareness as possible about Cowden syndrome.
“The main reason I would like to raise awareness is because people with multiple cancers, we have found, have Cowden syndrome,” she said.
“I’ve always wondered, people with breast, thyroid and kidney cancer, if they have the Cowden syndrome and don’t know it because it is that rare.
“And if people were more aware of the syndrome, they would be able to get more treatment for it.
“My kids are tested early so they can get the treatment early. If more people can do that then less people will die of cancer.”
Mrs Frawley encouraged anyone going through Cowden syndrome or caring for a relative with the condition should not to stress about it.
“I know it sounds silly and hard but you drive yourself crazy if you do stress about it,” she said.
“You can’t look at your children’s milestones, that’s something I was taught. Your children don’t follow the milestone charts, they follow their own milestone path.
“As long as they are going up, that is the main thing.”
Mr Frawley also encouraged the parents of children with Cowden syndrome not to treat their children any different to children without the condition.
“(arents with children who have special needs make the mistake of comparing them to the other kids who are tracking on a normal path… you can’t do that,” he said.
Mr Frawley said there was a laboratory in the United States of America – the Cleveland Clinic – that dedicated its time to researching Cowden syndrome.
“The PTEN foundation donates to them and also facilitates meet-ups for similar people in similar situations,” he said.
“They send people over to the United States of America for treatment.
“The syndrome is that rare, that we know there are only 200,000 diagnosed cases in the world.”