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With the help of the Lottery Ministers fund and LDNZ twenty six adults, children and affected adults attended the 11th National Australian MPS meeting in Brisbane 28th September – 1st October 2006

The theme for this conference was strengthening partnerships. There were many thought provoking workshops where families discussed the partnerships they had built over time with their Drs, researchers and support groups, and how these partnerships worked together for the good of the affected person.

The New Zealand families had easy access to all the presenters and they were able to spend time with the Drs talking through the many health issues their family members have. They came away with new information and a much better understanding of what they needed to do to improve the clinical care of their children.

John presented to the meeting an update on what LDNZ has been doing for the last two years and Jenny was asked to close the conference.

The reports from some of our families are below.

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We thought the doctors were once again just wonderful compassionate people who were so very accessible to everyone.

A real positive to come from the conference was probably putting our faces in front of the doctors again and hearing some up to date research info. It was also really wonderful seeing some of the New Zealand people.

We found it frustrating that there were no families like ours. All the ones who had Hurler-Scheie were bone-marrow transplanted and their problems were just so different to ours that the workshops were more or less not relevant to our experience.

We enjoyed meeting up with you guys and I admire all the hard work you put into the cause. We also thank the Ministers Discretionary fund and LDNZ for supporting us to get to this conference.

Tim and Marianne Hangan
Dunedin

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I would like to thank the New Zealand Lysosomal group, and the Ministers Discretionary fund for making it possible for me to attend the Australian MPS Conference in Brisbane. This is the first conference I have ever been to.

I am a foster mum to Blake who has Sanfilippo Disease. The information I gained from this conference was just fantastic it is going to make caring for Blake so much easier. It was wonderful to learn that I am no alone in this journey with Blake. I made some new friends and now have many people to talk to when things get difficult.

So Jenny and John what can I say but a very big thank you to you both.

DIANNE ROBERTSON
INVERCARGILL

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Heather and I attended our first MPS conference in Brisbane this year. We were very pleased to be able to go because it was our first chance to meet other people in our situation and to talk about things of common interest. It was great to meet these people and to swap email addresses so that we can keep in touch. It's very helpful to have other people to talk to and learn from and nice to be able to encourage them.

It was worthwhile meeting with the doctors and researchers dealing with these conditions. It was very informative to hear about the latest research and know what treatments are becoming available. It increased our appreciation of the important work that the Lysosomal Storage Diseases Support Group does in promoting awareness and advocating for action.

I also think it is important for the researchers to meet the affected families as I am sure it motivates them to keep going - they are confronted with the reality of the situation and they see the need for treatment.

Last, but not least, we appreciated the chance to have a break from looking after our two special children. It was the first extended break we have had from the children in 9 years and we found it refreshing.

Allan and Heather Turner
Hamilton

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OLIVER VINCENT LODEWYK, 4 YEARS OLD.

Without new born screening for any of the MPS diseases, and or the array of rare disorders then something else needs to be in place for the benefit of parents and children facing these life threatening diseases.

We had the opportunity to attend the National MPS conference in Australia where we heard about the statistics of one in 5,000 live births will be affected by MPS or a related disorder and early intervention is the key to a better quality of life and ultimately in some cases survival.

I can only ask ‘why’ with regards to so many things, that first and foremost are the issues surrounding diagnosis, especially in light of the emphasis placed on early intervention of Enzyme Replacement Therapy.

After attending this conference I now believe Morquio is no longer a disease that just has to be managed. The face to face contact with international specialists has been invaluable. First and foremost is the increased awareness and knowledge with regards to how MPS/Morquio affects the body and the extent of the progressive nature of the disease. This was especially so for Adam, who at times was not confident speaking up and asking questions during Oliver’s appointments.

At the conference Prof. David Sillence easily found time to answer my many questions. In fact whilst I was walking with Oliver through the conference facilities he purposefully changed direction to come and observe Oliver. I was not the only parent there with concerns, as an international specialist in skeletal dysphasia, Prof. Sillence was in hot demand. I would not hesitate to putting myself and Oliver on a plane to Sydney to receive the medical care that I now know is available. He provided Adam and I with so much information that to date we have not been able to gain here in New Zealand.

It has been over two years since Oliver was diagnosed, and not once has the hyper mobility in his wrists been brought to my attention, let alone the problems that will occur later in life. Prof. Sillence noticed Oliver’s wrists within a few minutes and on Monday I have an appointment with an occupational therapist to put in place some strategies that should help. It has been brought to my attention that Oliver may require an operation to straighten his legs. The procedure in New Zealand affects the growth plates in the knee joint, as Oliver’s growth is already severely impaired I was hesitant when considering the operation. My initial fears were correct, as during a discussion with Prof. Sillence he informed me of a new method that has less impact on the growth plates.

The spinal fusion operation that is required by Morquio patients has been my biggest fear. The instability at the base of the neck can cause paralysis or death if left unchecked and not stabalised.

I have been relieved at this stage that Oliver’s neck is showing little signs of the instability. During the conference x-rays of the neck and spinal chord were shown, illustrating how the spinal chord can become restricted. It was stressed that it is not worth waiting until problems surrounding this restriction start to present itself, as often irreversible damage is occurring in the interim.

What was once my biggest fear is now my biggest concern. Pof. Sillence was somewhat surprised that Oliver had not had an MRI, let alone a cat scan. I realize that these procedures in young children require an anesthetic and Oliver is at higher risk of complications while anesthetised, however during his last grommet operation the procedure could have been included. This goes back to the overall lack of management of care for Oliver.

After speaking with Prof. David Sillence he has indicated that there is a lot that we should be doing for our children, and that Oliver does not just have to wait around for problems to present themselves. If I can learn so much from this five minute conversation I would really like to know why our children’s doctors either don’t have the resources and/or time to further their knowledge. In the beginning the doctors had all the control, they appeared to have the sufficient knowledge that I relied on when Oliver was presenting with so many varying problems. I have learnt over time that the balance of knowledge is shifting and I will no longer put faith in the system that seems to be floundering without proper resources. Adam and I will become the experts in Oliver’s condition.

It has been critical from the beginning that LDNZ exists, in fact it was John Forman who was the first person to make sense of what was happening and gave me a clear path to follow. Until then I had been floundering with who to contact and what I should be doing. Within an hour of speaking with him I had an appointment with the Metabolic Specialist Team at Star Ship. This in turn led to Oliver being seen by the orthopedic clinic, the heart clinic and the beginning of receiving financial assistance.

I also had a New Zealand based website for reference, with rare disorders this in itself is very comforting. LDNZ (Jenny Noble) was absolutely critical in assisting our family financially to the MPS Conference. The grants from the Lotteries Minister Discretionary fund and LDNZ means that LDNZ will continue to be such a huge support. It is very reassuring that only phone call away there is someone who can help you move in the right direction.

I also approached the local Rotary Club and they had agreed to cover some of the minor costs, but we still needed a lump sum that was over and above what we could come up with. It is only through LDNZ and similar organisations that families like mine can go internationally to receive the information and care that our children deserve. I truly believe that if New Zealand cannot provide the support and care that does exist elsewhere and that the cost of setting this up is too high, then the means must exist for families to travel to obtain specialist care. The sense of being back in control of Oliver’s medical needs can not be measured financially. Adam and I thank everyone that supported us financially to attend the Australian meeting. Through this meeting we will learn to become the experts in Oliver’s long term care.

Rachel and Adam
Auckland

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We were given the opportunity by LDNZ to attend an MPS conference in Australia in October 2006. First I would like to take this opportunity to thank LDNZ and all who have contributed funding to this society and in particular Jenny Noble and John Forman, without you two LDNZ would not exist and families like ours would not have been given this kind of opportunity to meet with Professor’s from around the world.

Our daughter Emily has an extremely rare condition so meeting with Pro David Sillence from ‘The Children’s Hospital at Westmead’ was incredibly beneficial. Having expertise such as his has certainly changed the way Emily’s Health care will be managed in the future and this we know will only be helpful for Emily.

Jo & John Palairet
Tauranga

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