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8 August 2000

There has been quite a gap since the flurry of newsletters during 1999. My apologies for that. It has been a busy time with a lot of things happening. Here is a quick summary of them to bring you all up to date.

Australian Conference - March 2000

This proved a very successful event with the Noble family from Nelson attending with Hayden and Sarah (Mucolipidosis III) and the Forman family with Timothy and Hollie (Mannosidosis). Also there from NZ were Christine McMahon, who is a Metabolic Nurse from Auckland, and Dr Elizabeth Spellacy from Lakeland Health who has had experience in Storage diseases in England and the USA.

The most exciting parts of the conference were the news of a trial phase of a newborn screening programme for LSD's in Australia, and the increasing number of Lysosomal diseases for which Enzyme Replacement therapies are at or close to the clinical trial phase.

The knowledge is growing rapidly and bringing our hope of controlling these diseases, a bit closer every day.

Ed Wraith's visit.

After his attendance at the Australian Conference, Dr Ed Wraith from Manchester, who is one of the leading clinical specialists in Lysosomal diseases, made a whistle-stop visit to Wellington and Auckland, on 3 and 4 April. At both centres he gave a lecture to a couple of dozen medical people about how to give the best care for LSD patients, and did some individual case reviews with a number of paediatricians.

This is another bit of progress towards ensuring there is a wider base of knowledge and experience in the medical community, to appropriately care for these conditions. Thanks to Genzyme for sponsoring his trip.

Trust Status

LDNZ has now been formally constituted as a Charitable Trust. This move became important as we began to raise significant amounts of money - more on that over the page. The starting trustees are myself, Jenny Noble and Dianne Webster. Dianne is the Director of the National Testing Centre at National Women's Hospital and has been very supportive of our efforts over the past 18 months.

The Trustees will soon be meeting to deal with the formal reports for the period up to 30 June 2000, and we will pass the information on to you once it has been approved.

An essential feature of the Trust is that it acts as an umbrella organisation to represent the interests of all people affected by Lysosomal Storage diseases. Some of the conditions which have larger numbers e.g. Gaucher disease, and the MPS diseases, already have existing support groups, but many others with rarer conditions do not have a body available to represent their interests. LDNZ can assist any individual or group with information, representation or advocacy.

Fundraising

Over the past year I have put a significant effort into raising funds to ensure there is the capacity for things to happen, and there has been some good success. We have received money from a number of hotel casinos associated with the NZ Community Trust, and from the JR McKenzie Trust, the Community Trust of Wellington, and the Frimley Foundation, totalling $10,870. This total also includes $500 from the National Testing Centre to assist with a survey of Paediatricians. You can see now why we needed to quickly formalise Trust status to ensure proper control of this money. While the income is less than the original target hoped for, it is still good to have this available to maintain contacts and activity towards the achievement of our goals.

Survey of Paediatricians

This exercise was carried out late last year and brought in some information about incidence of LSD's in NZ. A follow up has recently been sent to those who have not yet replied.

Along with the survey we sent the Paediatricians information about LDNZ and that has already led to some additional contacts from newly diagnosed families.

International Links

It is clear from the rarity of these conditions that good links with international groups is vital to gain the best information. Several families have also been able to improve the care of their child, gain significant new information, or solve significant health dilemmas, by contacting overseas groups or medical contacts through the internet. We can assist with that process if there are any specific problems you are grappling with. Please feel free to call us. We are building up our international connections all the time.

As part of the goal of building up these links I travelled to the 6th International Symposium on Innovative Therapies, held in conjunction with the US MPS Conference in Minneapolis in May. I was also able to meet with the other Board members of the International Society for Mannosidosis and Related Diseases in Baltimore (I am on that Board also). I travelled with the President of that Society to meet the Office of Rare Diseases and the National Institute for Neurological Disorders and Stroke, in Washington, where we got approval in principle to the holding of a special scientific workshop to look at understanding of and therapies for the Oligosaccharide group of Lysosomal Storage diseases. This is likely to be held in the middle of next year.

Medical Specialists

It is good to know that two New Zealand paediatricians are in training overseas to gain more specialised knowledge in Metabolic and Lysosomal Storage Diseases. Dr Callum Wilson is soon to return to Starship Hospital after training at Great Ormond St Hospital in London, one of the premiere centres for LSD's, and Dr Esko Wiltshire is training at the Women's and Children's Hospital in Adelaide, where there is a specialist research centre for Lysosomal diseases.

We hope this will lead eventually to the setting up of a NZ-wide Specialist Metabolic Service. This is certainly needed to support families and local Paediatricians in the care of LSD's and other metabolic conditions. The lack of such a service has been a significant gap in our health system for too long.

New Zealand's contribution to Lysosomal Disease Research

Over the decades since 1962, when the first scientific paper was published to explain how the Lysosomes in the cells of the body - affected by the enzyme deficiency - were at the centre of the "Storage" problem in these diseases, New Zealand has made it own very unique contribution to the research on these diseases. The significant work of scientists like Professor Bob Jolly of Massey, and Dave Palmer at Lincoln, has been enabled by the occurrence of natural animal models of some of these diseases on our farms.

Aberdeen Angus cattle with Mannosidosis and sheep with Batten disease have allowed research that has greatly enhanced our knowledge of Lysosomal disease, and greatly assisted overseas scientists. Now the farm is about to produce a naturally occurring model of Sanfilippo disease in Huntaway dogs. The research on these dogs will most likely be carried out at the Lysosomal Referral Laboratory of Professor John Hopwood in Adelaide.

A NZ Organisation for Rare Diseases

In the course of trying to progess the issues relating to information, clinical care and research into LSD's, it has become very clear that many other groups of diseases have similar difficulties for no other reason than, like our's, they are rare. The result of the contacts and networks established with other rare disease groups, is a conference to be held in Wellington on 1 and 2 September to form a NZ Organisation for Rare Diseases.

LDNZ is providing the main impetus to get this under way (hence the lack of newsletters for some months). A copy of the programme is attached for your information. It would be great to see you there, if any of you are able to attend.

The Royal Commission on Genetic Modification

Many of you will realise that the issues thrown up by this debate have a direct bearing on whether research into our conditions will be permitted to continue, and whether any therapies produced for them will be available in NZ. It is very important that the potential problems or emotions relating to genetic modification of food, do not spill over into restrictions on research into medicines for these and other genetic and metabolic conditions. To protect our interests I have, with the support of the trustees, registered with the Royal Commission to gain "interested person" status so we can make a submission in person before the Commission.

Making contact

I have thoroughly enjoyed the opportunities I have had to talk to you by phone, and to meet with some of you in person. I look forward to meeting more of you in the future. Please give us a call if you are going to be in Wellington so we can catch up. Wishing you all a continuation of the lovely mild winter weather we are having lately, and hoping that life is good for you.

John Forman
Chairperson