Chris Hayes (Fowler, Australian Labor Party) Share this | Link to this | Hansard source

I rise to bring the attention of the House to a very rare form of disability known as the Phelan McDermid Syndrome. I only became aware of this disability late last November when I met up with a long-time friend of mine, Julie O'Keefe, and her daughter—and her daughter and her husband, Andrew, are sitting in the gallery here. They have a daughter with Phelan McDermid Syndrome. It is a family I have known for a long while. Megan went to school with my youngest son, Jonathan, at St Thomas More's in Ruse, so there is a strong family connection.

As members of parliament we get to hear about many things and many conditions but here is one I had never heard of and one that affects someone close to my family and close to our community. I thought it was incumbent on me to at least bring this to the attention of this parliament.

I will fast-forward a couple of years. Megan and her husband, Andrew, found themselves as parents of a child with a disability. Their beautiful daughter Olivia was diagnosed back in 2011 with this extremely rare genetic disorder called Phelan McDermid Syndrome. The disability arises because of a genetic disorder at chromosome 22 in the human genome. This gene is understood to play an important role in the brain development of infants, so an individual with this condition often displays the same sorts of behaviours you would ordinarily expect to see of children on the autistic spectrum. Diagnosis of this disorder was only possible back in 1999. Genetic screening was insufficient to detect this micro deletion of chromosome 22 prior to that.

As parents of children with such a rare disability, Megan and Andrew have taken a very proactive role in raising awareness and advocating on behalf of other sufferers and families with children with Phelan McDermid Syndrome. Megan Toole is the regional representative for a body that is addressing the issue of Phelan McDermid Syndrome throughout Australia, New Zealand and Indonesia. In that role and in a very voluntary capacity, Megan puts in a lot of time educating, communicating with and, importantly, supporting those families and those parents with such a rare disability as Phelan McDermid Syndrome. Her deeds in this cannot be underestimated or overappreciated. They are very great endeavours to inform and help other parents, and they have to be regarded by us here in this place as absolutely admirable. This kind of effort and dedication can only come from someone who not only cares but also has actually been through the same challenges. So she is able to offer not simply sympathy to other parents, but genuine empathy, genuine compassion and genuine support.

Olivia is now almost three years of age. Unfortunately she has not acquired any speech, and she suffers from severe seizures and pneumonic episodes. She has been admitted to hospital well over 30 times in her young life. When Megan brought Olivia to my office the other day, the child was just so frightened—probably because I was dressed like this, Mr Deputy Speaker, and I probably seemed to be another doctor in another surgery. It is regrettable that, in my case, this is something that I had just not heard of, and I therefore did not have an appreciation of the effect it has on parents. It is important to understand that the symptoms of Phelan McDermid Syndrome are very similar, as I said earlier, to those of children on the autism spectrum. In fact, all but one of the sufferers of Phelan McDermid Syndrome are also diagnosed on the autism spectrum—with that one exception being little Olivia Toole. There are only 30 known sufferers of this disability in Australia.

I think that puts in perspective that people are falling through the cracks and that, because we have been specific about who gets support, those children on the autism spectrum qualify for that support but a child such Olivia—one in 30—who is the only one who has not been diagnosed— (Time expired)

Michael McCormack (Riverina, National Party) Share this | Link to 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.

Jill Hall (Shortland, Australian Labor Party) Share this | Link to this | Hansard source

I rise to support the motion moved by the member for Fowler. The member for Riverina has also spoken passionately about it. Both members understand the issues that surround parents that have a child that has a rare disease such as Phelan McDermid Syndrome. I think one of the key factors is that there are only 600 people worldwide, all children I understand, and 30 here in Australia that have PMS as it is often referred to.

It is one of those diseases that is a genetic disorder. It is characterised by global developmental delay as has already been mentioned. Most sufferers have no speech or are severely speech delayed. We have talked a little bit in this debate about how it is caused by the deletion or rearrangement of chromosome 22. SHANK3 is often deleted in people with PMS. It has also been associated with autism spectrum. But it has also been shown that there is a connection with schizophrenia through SHANK3.

I would like to acknowledge the role of the PMS foundation in providing both financial and emotional support for families to deal with the impact that this disorder has. The member for Fowler and the member for Riverina both referred to the role that Megan Toole has played.

The real issue is that PMS is a very rare disease. Very few people suffer from this disease and because of that it is really hard to attract money for research. It is really hard to have drugs that will actually assist those people who have PMS. Consequently with such a small number of people suffering from this disorder, it makes life really hard and it makes it very hard to bring about change. PMS is one of many rare diseases that fit into this void where you cannot get the money for research, where you cannot get the drugs, all because just not enough people have it. But if you put together the number of people that have rare diseases globally there are actually 70 million people and that is quite significant.

There are two million people in Australia living with rare diseases and 10 per cent of the Australian population is directly affected by one or more of the 8,000 diseases. When you put it into that sort of parameter you can see that there may not be a lot of people affected but when you join together all those people in Australia that are suffering from rare diseases it shows that we need to adopt a different approach to dealing with people whose lives are impacted incredibly by having a child with, or themselves, having a rare disease. Julie and Andrew, I know how hard it must be for you with your little daughter. I think that going to see Chris was one of those really courageous things that can happen that can bring about changes.

I have been doing some work with Rare Voices Australia. They are trying to be an umbrella group for all of these rare diseases. People with rare diseases face enormous challenges each and every day just struggle to keep their lives together. It is through the organisations such as Rare Voices Australia that they can actually move things forward. Then you get people coming together and with numbers you can make your voice heard a bit better. My thoughts are with you. Thank you, Chris. I thank you member for Fowler and member for Riverina. Your contributions were very moving.

Chris Hayes (Fowler, Australian Labor Party) Share this | Link to this | Hansard source

I seek leave to make an additional contribution.

Leave granted.

As I was saying, it is very rare for children to have Phelan McDermid Syndrome. It has a significance in terms of delayed developmental stages in a child and the absence of language skills but also feeding and growing difficulties, sleep disturbances and intellectual disabilities. Therefore, parents with a child with Phelan McDermid Syndrome need to pay regular visits to paediatricians such as Rick Dunstan—a good friend who is Olivia's treating physician—but also to access various medications. This is where I talk about falling through the cracks. The applications of these therapies and medicines certainly are not cheap on families. Unfortunately, because Olivia is the only sufferer of Phelan McDermid Syndrome in Australia who is not diagnosed on the autism spectrum, her parents are the only parents of a Phelan McDermid sufferer who do not get the benefit of the early intervention facilities and finances available through the Commonwealth. It does not mean that their costs are any cheaper, it does not mean that their visits to the paediatrician are any fewer. It does mean that the difficulties are very much shouldered by them as the parents.

As I say, this is a very rare disease. There are only 30 known sufferers in Australia at the moment and of those children, imagine Megan's surprise to find that there was another child only recently diagnosed at age 3 living in the same postcode also suffering from Phelan McDermid Syndrome. But in his case he is diagnosed on the autism spectrum as well.

Megan has taken upon herself to meet with every family affected by Phelan McDermid Syndrome and understands that these families, like her and Andrew, are also going through some very tough times in coming to terms with the syndrome and with the impact on their child, but also with the significant medical expenses involved. DisabilityCare Australia and the National Disability Insurance Scheme will hopefully provide much-needed assistance and support to these families to enhance the quality of life and to increase the economic and social participation for all people with disabilities including young people as they grow up, like Olivia. However, there remains a significant level of unmet demand for disability services and, unfortunately, Phelan McDermid Syndrome falls through the cracks and currently there is no recognisable government assistance available for these families or their carers.

As you know, my electorate is the second most disadvantaged electorate in the country. Probably because of that and the lower land values there, my electorate is overrepresented by people and family living with disabilities. I have had a long association with various groups that offer relief and support for families dealing with disabilities and, like them, I have expressed my concern on this matter before the House as we all believe in the need for greater support and care for these families.

I have nothing but admiration for the courage and determination of Megan and Andrew. What they are doing not only to support their beautiful daughter, Olivia, but also what they are doing as the advocates of Phelan McDermid Syndrome throughout Australia is absolutely commendable. I commend this to the House.

Dick Adams (Lyons, Australian Labor Party) Share this | Link to this | Hansard source

Order! The time allotted for this debate has expired. The debate is adjourned and the resumption of the debate will be made an order of the day for the next meeting.