Upper Hunter couple Sean Millwood and Amy Hickman overwhelmed by Dane Williams' fundraising efforts for their three-year-old son Reggie

TO say local couple Sean Millwood and Amy Hickman were overawed by the occasion was an understatement.

But, the pair - and their three-year-old son Reggie, who suffers from an extremely rare disorder called Phelan-Mcdermid Syndrome (PMS) - eagerly cheered on good friend Dane Williams when he cycled into Muswellbrook on Friday afternoon.

The Macquarie Hills man, along with a number of riding companions, rode more than 130 kilometres to not only raise awareness for PMS but money for the Upper Hunter family to support their ongoing cost of living while dealing with the youngster's condition.

"We can't thank Dane enough," Mr Millwood said.

"He's such a great bloke for doing something like this.

"We're pretty overwhelmed by all the support, too," Ms Hickman said.

"Sean and I can't believe it.

"We'd just like to pass on our gratitude to Dane, his wife Ashlee and everyone who donated items [today], as well as the businesses, family members, friends and [Aberdeen Tigers] team mates who've been there from the start," Mr Millwood added.

"It's really appreciated."

Having left Cardiff in the morning, Mr Williams was extremely grateful to recharge his batteries before the evening's auction at the Muswellbrook RSL Golf Club.

"Although I feel busted, it's not too bad," he said after the six-hour and 40-minute trek.

"I thought it may take about eight, so I'm happy with the time.

"However, the trip from Singleton to Muswellbrook was the worst part.

"It will probably hit me in the next couple of days.

"But, it's worth it.

"So far, we've raised more than $8000 on the GoFundMe page - and the target was $10,000.

"Hopefully, the sale of merchandise and the auction will boost that total."

PMS only has 2100 cases confirmed on an international scale - and just eight in Australia.

"To put it in perspective, Reggie is 1 in 3.85 million people worldwide and 1 in 3.075 million Australia-wide with PMS," Mr Williams said.

"It's a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene.

"In fact, PMS is sometimes called 22q13 Deletion Syndrome.

"It can cause a wide range of medical, intellectual, and behavioural challenges.

"The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy.

"There is currently no cure or treatment specifically for PMS, but they know how to manage many of the symptoms.

"Thankfully, researchers are working hard to improve our knowledge of PMS and to find drugs and therapies that can benefit people affected by PMS."