Groups' chance to raise awareness
It took more than six years for Palmerston North boy Oscar van Dyk to be diagnosed with a rare genetic disorder.
The 11-year-old is now living with Coffin Lowry Syndrome, which affects him intellectually and physically.
"Up until Christmas he was the only one diagnosed in New Zealand that we knew of," said his mother, Kelli van Dyk.
"Since then there has been a little girl in Auckland too," she said. "With Oscar it's a one-off. It can be a hereditary gene but with him it just happened at conception."
Symptoms of the condition include a short stature, skeletal abnormalities, distinct facial features, and delayed language and motor skills.
Children with the syndrome can also be diagnosed with autism, epilepsy, scoliosis, heart conditions and dental abnormalities.
The condition affects boys more severely than girls.
Mrs van Dyk spoke to the Manawatu Standard about her son's complex condition ahead of Rare Disease Day tomorrow.
"When he was born he appeared normal, apart from being slightly small," she said. "But he was one unhappy, miserable baby who didn't feed or sleep."
Mrs van Dyk said Oscar was referred to genetics specialists at about 12 months when it became apparent he wasn't developing and hitting his milestones.
"He didn't walk until he was 2 and he wasn't diagnosed until he was 6 ," she said. "It wasn't until we saw a geneticist who had seen a case before and thought he recognised it, that was when they decided to test for it.
"It's getting diagnosed earlier now, around the world, because it's getting more well-known, but because he was the first case we know of, they just didn't know what they were looking for."
Mrs van Dyk said the diagnosis was a shock for the family who had been holding on to a "false hope" that he might miraculously improve.
"When we got the diagnosis it was tough and it was a grieving process we had to go through to accept and realise he was never going to be a normal person," she said. "But now he's happy, he loves school and routine and will talk to anybody."
Mrs van Dyk said it was tough learning to bring up a child with a rare syndrome and very little support. "We belong to the worldwide Facebook group for the condition," she said. "For us Facebook is amazing, it gives us an opportunity to share stories, vent and moan, and everyone understands."
New Zealand Organisation for Rare Disorders (NZORD) executive director John Forman said Rare Disease Day was a chance for individuals and small groups to raise awareness and raise funds for their chosen condition.
"The key reason for community awareness is the relative neglect of rare diseases. For all of the pressures and demands on the health systems, it is good, but some things are dealt with better than others."
Mr Forman said Rare Disease Day is held internationally, with more than 60 countries and hundreds of patient groups participating. "The international theme for this year is ‘Let's join together for better care', emphasising the need for collaboration to get the best outcomes."