Press Release – Kelly Pohatu
Te Atatu residents Johnno and Sivao Winther are on a mission to raise awareness about their little boy’s disorder, known as Angelman syndrome.
Since Jordan was born 7 years ago they have had to face challenges of heartache and uncertainty simply because little is known about the neuro-genetic disorder.
The Winther family plan to attend the Angelman Syndrome Foundation conference in the United States July next year. They want to enhance their knowledge about their the Angelman syndrome, not only to learn more on how they can provide him the best quality of life possible for Jordan, but also to build the capability and resource within the Angelman Network here in New Zealand.
Mr Winther says: “we have no health professionals who specialise in Angelman syndrome in Aotearoa so you can appreciate the frustrations and uncertainty of families who have just been diagnosed with this disorder. We certainly can.”
The disorder has no cure and occurs once in every 20,000 births. Symptoms include severe intellectual disability, developmental delay, profound speech impairment, sleeping and movement disorders.
“A lot of the time when we’re taking Jordan in to the hospital or doctors we find ourselves doing the explaining. They see us as the experts,” he says.
Mr Winther says the lack of information means many “angels” such as his son are often misdiagnosed.
Jordan was originally identified as having Prader-Willi syndrome, a congenital disease that reduces muscle tone and ability. But his parents doubted that was the correct diagnosis because he wasn’t showing the right symptoms.
“They put it down to cerebral palsy after that until we had tests sent away to Sydney which showed he had Angelman syndrome,” Mr Winther says.
Five Auckland families belong to the Angelman Network and Mrs Winther, who is a trustee alongside her husband, believes there are more in the community.
“The group is a support network and helps when it comes to things like what kind of physio you go to and that kind of stuff.”
“Seizures have a major affect on those who have Angelman syndrome. Jordan can have up to 50 seizures a day. We have had families within our network who have lost their angels through seizures.”
“Above all of the challenges, our son is extremely loving. Jordan’s brother Luke, 8, is very protective of his brother and they’re very caring towards each other.
The Winther family is excited about work being done in the United States by associate professor Edwin Weeber.
“Earlier this year he was able to cure Angelman in mice and now they’ve started the first clinical trials on humans. They will be sharing some of their findings at the conference. It will be an amazing experience being there to witness the amazing work being done to help our angels,” Mrs Winther says.
If you want to learn more about how you can assist please contact Jonathan Winther 0212777412
Visit angelmannetwork.com for more information on the Angelman Network.