WHEN Balga resident Kristina Coburn’s first child was diagnosed with agenesis of the corpus callosum, she had never heard of the condition.
The unique challenges involved with the diagnosis spurred Ms Coburn to reach out to others and help set up a support network in 2009 that has since grown to become Australia’s leading corpus callosum disorder advocacy group.
The condition, where the middle part of the brain is absent or undeveloped, affects one in every 3000 people. Two of Ms Coburn’s three children were diagnosed with the disorder, despite not being genetic.
“Connor was delayed in his milestones, we thought something wasn’t right when he wasn’t walking,” Ms Coburn said.
“A paediatrician sent us to a neurologist who ordered a CAT scan, an MRI and we found out he was missing his corpus callosum.”
Connor (17) has an intellectual disability, epilepsy, autistic tendencies and some physical limitations.
She said Kyle (9) was born on the same date as Connor and ended up also being diagnosed agenesis of the corpus callosum and has an intellectual disability.
“The boys had early intervention, speech, occupational therapy and physiotherapy, that was quite intense,” she said.
“Every single time we went to a GP initially and you said they have ‘agenesis of the corpus callosum’ and they look at you like you’re talking Chinese.
“If we’re having that trouble with professionals, trying to explain it to everyday people is worse.”
Ms Coburn read a story in the Reporter in 2009 when a Perth mother talked about her daughter who had partial agenesis.
“I rang her out of the blue and thankfully she didn’t think I was a nutter,” she said.
The two started the Australian Disorders of the Corpus Callosum (AusDoCC) Facebook support group, which has grown to about 350 members and became an official charity in 2012.
“I just felt we were alone and there was nobody who understood the specifics of it. Now we have regular meet-ups and meet more parents with kids with the disorder,” she said.
AusDoCC held its first national conference in March last year with the world’s leading professionals and host an annual awareness day called Bridging the Gap on July 2.