Michael McCormack (Riverina, National Party) Share this | Hansard source

May I from the outset commend the member for Fowler, who I know is a passionate person and a staunch advocate for this cause. He spoke of having not just sympathy but genuine empathy, and I know that he is certainly one person in this place who has genuine empathy not only for people with this syndrome but also for people afflicted with other diseases. I commend him for bringing this motion to parliament. It is a very important medical condition but not one that is well known about.

Phelan McDermid Syndrome is an extremely rare condition which affects about 600 people worldwide. Of these, only about 30 are in Australia. The condition is named after Dr Katy Phelan and Dr Heather McDermid who first identified the condition, which is a genetic disorder caused by deletions or rearrangements on chromosome 22. Dr Phelan is credited with identifying the 22q13 chromosome deletion in 1988 while studying DNA analysis on a newborn who suffered from poor muscle tone. Due to the deletion of this chromosome the condition is also known as 22q13 deletion syndrome. All of those diagnosed with Phelan McDermid Syndrome have global development delays and almost all have absent or severely delayed speech. The condition also causes physical issues such as immature muscles, hypotonia and visual perception as well as neurological issues which affect nerve control and mental processing times. Treatment of the condition varies from child to child and from family to family. Currently the condition cannot be cured. Instead, symptoms are addressed with different medications and other therapies including physiotherapy, occupational therapy, speech therapy and vision therapy.

The Phelan McDermid Syndrome Foundation, which is based in the United States of America, plays an important role in providing support to families across the globe. The foundation holds a biannual conference which allows families from around the world the opportunity to meet each other and build support networks. Furthermore, a number of professionals also attend and this allows families to meet with specialists in this rare disorder.

Newsletters and the website help families keep in touch with each other and with medical professionals who specialise in this condition or who are researching how to understand the condition better. The foundation also has regional representatives around the world who are the go-to people for families in their particular area. Megan Toole is one of the Regional 8 representatives, a region which includes Australia, New Caledonia, New Zealand and India. Megan plays an important role in raising awareness of this rare disease and in supporting families who have a family member with this rare condition. I commend Megan for her wonderful efforts.

In addition to providing support for families, the foundation focuses research on initiatives which are expected to get the greatest benefit. The foundation has built a web patient registry, which is the largest collection of phenotypic and genetic data from patients with Phelan McDermid Syndrome, which can be used to by those researching the condition. Furthermore, the foundation offers scholarships which will hasten the development of effective therapeutics to assist those affected.

My hometown of Wagga Wagga in the Riverina is home to the Harmer family. They are good people. Chris and Carol Harmer are the parents of three children. Their eldest daughter, Lauren, is 21. Their other two children, Emily, 20, and Tom, 16 have Phelan McDermid Syndrome. Carol is the full-time carer of Emily, who has never spoken a word, and of Tom who is affected but not as severely as his sister.

I have met and spoken to Carol and Chris on a number of occasions and understand the physical, emotional and financial strain having children with this condition has placed on them. Only recently Carol contacted me to explain the medicine Emily requires to assist with her anxiety and behaviour issues, which are a result of having Phelan McDermid Syndrome, is not covered by the Pharmaceutical Benefits Scheme and was leaving them with an expensive medicine bill each month. Unfortunately, without the drug company applying to have this particular medicine on the PBS scheme, the Harmers must continue to find the money to be able to afford this necessary treatment for their daughter.

Chris recently had to give up his long-haul transport duties with Burkinshaws Transport. He used to drive the Sydney to Melbourne route taking wool to both capital cities and general freight on the way home so he could spend more time with his family. That has also caused a strain on his family, but Ian Burkinshaw, his boss, has been very kind and given him full-time work at the transport company depot, which has obviously helped. It is important that Chris has been able to spend more time with his family.

The Kooringal Rotary Club were very good to offer to part-sponsor the Harmers to go to the US to go to a Phelan McDermid Syndrome conference, but the kids are not well enough to do so. I do thank Kooringal Rotary for their generosity. I again commend the member for Fowler for moving this motion in parliament.

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