Phelan McDermid Syndrome is not very well known, but for one Glen Innes family they have become very aware of its impacts in everyday life.
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Logan Maybon, son of Rochelle and Jason Maybon, is one of only 56 people in Australia to be diagnosed with this rare syndrome.
Phelan McDermid Syndrome, sometimes called 22q13 deletion syndrome, is an underdiagnosed genetic condition caused by the deletion of the terminal end of chromosome 22 or mutation of the SHANK3 gene or ring chromosome 22.
The symptoms include; low muscle tone, poor motor control, seizures and epilepsy, varying degrees of intellectual disability, feeding problems, heart, liver and kidney problems, delayed or absent speech and behavioural issues.
Mrs Maybon said it is a very complex syndrome and is quite new so there aren’t really guidelines of what to expect.
However, with the help of a team of specialists and the Glen Innes Lioness Club, Logan is tackling his symptoms head on.
The Lioness Club have donated a supportive walking frame to Logan, along with orthotic supports to ensure Logan’s joints are fully supported when he is developing his muscle tone in the frame.
“It provides the maximum support, he can’t go anywhere as he is supported fully, but he can use his legs,” Mrs Maybon said.
The supports inside the frame can be modified if Logan has differing needs, but it should support him until school age.
I have every hope in the world that one day he won’t need it
- Rochelle Maybon
“I have every hope in the world that one day he won’t need it,” she said.
Lioness Club President Sandra Kiehne said the idea came in a roundabout way and as there are no dedicated support groups they decided to step in.
“The project cost over $4000, to get the frame adjusted and orthotics for Logan,” she said.
“We just wanted to help them with one of the financial burdens,
“We support the locals in needs as well as the Lions foundation, but we do try to put our money back locally if there is the need.”
The frame encourages Logan to use his muscles and he is finding it easy sliding across the Maybons floor; however he is a fan of going in reverse and hasn’t quite mastered forwards yet.
“Our ADHC physio Maryanne Loggan said he is getting used to it, and the stepping will come with time,” Mrs Maybon said.
Mrs Maybon said Logan’s strength and happiness have increased in the few short months that they have had the walker.
“He’s a different happy now; I think the reason is because he can go where he wants, within reason, instead of rolling everywhere or being on the floor, it’s just made so much difference,” she said.
The Lioness Club are looking to do a fundraiser for the Maybon’s later this year.
