Many parents believe that once their child is diagnosed with a genetic disease, treatment begins, but for so many there are few answers – as was the case for one-year-old Teddy.
Theodore, known affectionately to his family as Teddy, was born a happy and healthy baby. He was a sleepy baby, who didn’t really open his eyes much during his first week of life, but that didn’t bother his doting mum Lucy.
"Open he did open his eyes, we noticed they would always cross, so we got his eyes checked and he went into glasses at three months,"
It was during a routine check-up with his paediatrician that they also noticed his neck wasn’t very strong, so she ordered some blood tests and an MRI.
At four months of age Teddy was diagnosed with a deletion of the CTNNB1 gene, also known as CTNNB1 syndrome or Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). This condition was only officially discovered in the last 10 years and there are only 300 known cases worldwide.
“When the paediatrician called and said: ‘I want to see you and your husband’, I knew something was wrong,’’ Lucy said.
“All she could do was give us an A4 page of information and there really wasn’t much more to find out. I started to do my own research and that’s when it started to sink in – this is serious - there are going to be many aspects of life that’s he’s going to miss out on. I realised that we were going to have to go through a very big adjustment.
“I think the biggest thing for me was, I don’t know if I’ll have my child with me forever.’’
Now at 16 months, Teddy has very low muscle tone and he cannot sit up but loves to roll around. He hasn’t said any words, but it may be too early to know the severity of his cognitive delay. Lucy is optimistic.
“He is such a joyful person and super social, he is always wanting to interact with people,’’ she said. “From the research that’s out there we just don’t know but I have to be realistic. He may never speak, or he may go to a mainstream school. We do know that it will impact every aspect of his life – but we don’t know to what extent".
"This is the hardest part for me as his mum, not knowing when or if my son will crawl, walk, talk or go to a regular school. Not knowing if I will ever hear him say ‘mum’."
Lucy has connected on social media with other families impacted by the condition but was drawn to Children’s Medical Research Institute due to their work on rare conditions. There is particular hope with research into gene therapy for rare conditions, where the gene is identified and can be either corrected or replaced – with one injection.
Her sister and husband’s childhood friend ran a marathon recently and raised $7000 which the family have donated to CMRI.
The family was excited to hear that the CTNNB1 Foundation has pledged $450,000 to kick-start gene therapy research to be done by two teams at the University of Sydney and CMRI, led by Associate Professor Leszek Lisowski and Associate Professor Wendy Gold.
“To hear that there was research into these rare conditions, right here in Australia, was so wonderful.’’