Jan McLucas (Queensland, Australian Labor Party, Shadow Minister for Mental Health) Share this | Link to this | Hansard source

Tonight I want to bring to the attention of the Senate and to the attention of the country the circumstances of an engaging and charming little boy by the name of Jarvis Budd. Jarvis will be three in July. He lives in Brisbane. He loves to swim and to play in the mud, he says. He likes singing and his Thomas the Tank Engine. He is like any other toddler, with one huge exception. Jarvis has an extremely rare disorder, fibrodysplasia ossificans progressiva, or FOP. It is an extremely rare condition with only 13 diagnosed cases in Australia and about 800 confirmed cases worldwide. It is variously called mannequin disease or stone man syndrome. It is caused by a recurrent activating genetic mutation. There is no ethnic, racial, gender or geographic predilection.

When Jarvis was born, his big toes were malformed, but the doctors dismissed this, saying that they would right themselves. This was a mistake—but an understandable mistake, given such small numbers. But, if it had been investigated, it would have led to an earlier diagnosis. Jarvis was finally diagnosed with FOP after a fall—a regular, toddler type fall, but one where he landed very heavily on his head. The swelling was quite unusually severe, and he required medical attention. But, some while later, when the swelling finally receded, it became evident that something was really wrong.

Where Jarvis hit the floor, the bump was forming into bone. The soft tissue was forming into bone. With FOP, any knock or fall results in the affected parts of Jarvis's body turning into bone. Any surgery, any injection, anything that breaks his body in any way results in bone forming at the site where the muscle or soft tissue has been affected. Over time, essentially, a second skeleton forms. Jarvis's final diagnosis occurred by sending his blood tests to researchers in the UK.

People with FOP live for about 40 years. It is a progressive disease as each and every injury causes bone to form and there is no cure. It is also of no benefit to try to take out the second skeleton forming. Jarvis's parents, Damien Budd and Lara Boniface, are impressive people. I have spoken with Damien and corresponded with Lara. They are supported by their extended family, which is very much valued by them. Jarvis is cared for by his grandparents for three days a week when both parents work. They very much value the support that they receive.

Here in Australia we have some researchers engaged in finding out about FOP, but most work is happening in the US and the UK. For almost all rare diseases, this is the case. The population of Australia means that it is hard to encourage medical research to focus on these tiny cohorts of people with very rare conditions.

Recent research published in Nature Reviews Genetics has established a link between FOP and a devastating type of childhood brain cancer. It is an early finding, but it may provide a promising research pathway into the future.

So why have I brought Jarvis's story to the Senate? Firstly, to increase the knowledge of FOP in the community so that people can assist with fundraising support for those people with FOP but, in my case, particularly for Jarvis. The expenses are enormous. Lara and Damien need to travel overseas, usually to the UK, for assessment and treatment. They plan to travel to the UK in May. This will happen on a number of occasions into the future. So I do encourage everyone to go to the website www.hopeforjarvis.com, to donate funds and to support Jarvis's family. At this point I would like to quote from a young person who did exactly that. This is from Jackson Munday. He says:

Hi there I'm Jackson and I'm 12 years old

I saw your Jarvis on television and it got me thinking and i felt so sorry for him and his parents

so i have put a jar in my room with currently $69 inside I will donate every bit of it by the end of march so you have more money to cure it.

i am so happy i saw him on TV because i knew he needed help more than anyone i know so tell him is so cute and one day im going to come visit you.

Please follow Jackson's lead and support this amazing family.

Secondly, I do hope this contribution will improve the understanding and knowledge of FOP in the medical profession. Jarvis was finally diagnosed after a friend of Damien and Lara saw a TV program about FOP, which showed photos of the big toe malformation. She immediately rang Lara and said, 'This boy on TV has got what your boy has.' This happened around the same time that Jarvis had the fall. If we had more knowledge in the medical community, we could have more early diagnoses. However, in saying that, I am not blaming the medical community. We have only 13 people in Australia with this condition. But if the obstetrician at the birth had thought about it just for a moment, we might have had a different outcome. Diagnosis allows the medical profession to get onto the treatment pathway.

In conclusion, it has been my privilege to come to know about Jarvis and his family. I look forward to meeting them in the future. I encourage everyone to support Lara, Damien and Jarvis in whatever way we can.

Finally, how do I know about Jarvis? One of our young Labor branch members in Cairns is related to Damien. He brought Jarvis's story to my attention. So thank you, Chris Rollason, for taking the time to tell me Jarvis's story.