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December 2005 - from LDNZ Secretary, Jenny Noble

Hello Everyone,

This year for LDNZ has been a very busy one. We have spent many hours lobbying Pharmac, networking with other International Organisations and supporting some of our LDNZ families in accessing support agencies and the health system.

New Families We warmly welcome the following families: Lorraine McKinnon who has two children with Metachromatic Leukosystrophy. Gina Murray who’s daughter has Tay Sachs disease. Lynda and Wayne Dougan who’s child has Batten’s disease

Sadly we mourn the loss of Frank Zimmerman March 2004 Alice Warrren June 2004 Joanne Freigard September 2005 Our thoughts and prayers are with these families

Highlights for 2005

1. Pharmac finally gave its approval for increased dose for three Gaucher patients nearly 2½ years after the expert panel first made its recommendations, and after a continuing series of calls, meetings, letters and emails by LDNZ to MPs, the Ministry of Health and Pharmac over a 2 year period.
2. The government announced as a result of the coalition agreements they will “develop a long-term medicines strategy to ensure quality pharmaceutical usage in the health sector”. LDNZ has worked hard with a number of other support groups to do the political lobbying towards this strategy. We hope that a new medicine strategy will avoid the need for constant battles over access to medicines one by one.
3. The Human Assisted Reproductive Technology Act was passed and the guidelines were eventually approved for Pre-implantation Genetic Diagnosis, following a lot of input from us through the NZ Organisation for Rare Disorders. While this was great progress, it is disappointing that funding of the procedure has still not been approved. (Stop press – The government announced funding for PGD for inherited genetic diseases just days after this newsletter was published).
4. The Sanfilippo dogs stolen from Massey gave us publicity we could not have bought when the animal rights crowd made the biggest bungle in years and enabled us to get discussion of Sanfilippo, Lysosomal diseases, family experiences and the importance of research, onto both major TV channels over two nights, into daily papers over several days, onto national radio news, and a special feature on 20/20 the following week.

Lowlight for 2005

Despite the development of new enzyme replacement therapies for Fabry disease and MPS 1 (Hurler Disease), Pharmac has so far refused funding for these treatments, and continued lobbying will be required to ensure our families get a fair deal.

OTHER THERAPY ADVANCES

1. Enzyme replacement therapies for MPS6 (Maroteaux-Lamy disease), Pompe disease and MPS2 (Hunter disease) are now well advanced with licensing approval now granted or expected soon in several countries, so it will just be a matter of time before they are available here, and the issue of government funding will have to be addressed for these three diseases as well. Treatment for infantile Pompe is feasible now if any cases are diagnosed and because of its rapid progression but effective treatment by ERT, it may well be the test case for the whole group of diseases.
2. Bone marrow transplant (and haematopoietic stem cell transplants). This procedure continues to be the first-line treatment for several of the Lysosomal diseases and a recent transplant for a Metachromatic Leukodystrophy patient brings to four the total number of transplants we know of for Lysosomal diseases in NZ.
3. Gene therapy. There are several examples we know of where gene therapy of other innovative approaches (e.g. intrathecal injection of enzyme) have been used successfully to treat animals with naturally occurring lysosomal disease. Just last month there was an announcement of FDA approval for experimental stem-cell treatment of several patients with Batten disease. This is the first example we know of where human clinical trials of these leading-edge treatments are being done for our group of diseases. It is exciting to see progress but also frustrating that it all takes such a lot of time from the basic research to development of therapy.

Other Activities during this time

1. National Health Committee review of chronic conditions - we made sure that in conjunction with the NZ Organisation for Rare Disorders we made a substantial submission that emphasised the special consideration that needs to be made in policy for rare diseases like ours. In particular we emphasised that the bias towards primary care in that report may be relevant to common disorders like diabetes and heart conditions, but is not an appropriate place to provide the specialist care needed for our diseases. We pushed for more research into our concerns and we were pleased to note that a Sanfilippo family was among a small group of families questioned in detail about health and disability support issues for them. We hope this will help the NHC appreciate the particular needs for rare diseases like ours.
2. Family support – We have supported a number of families this year in areas of respite care, personal care hours, winz, CCS, and accessing the health system. Often it is quite by accident that we discover a family in need of our input. Please feel free to call either John or I if we can be of any help in working through some of these areas, and if you just feel like venting about the system we would like to hear this as well.
3. Website - Use of the website continues to grow with around 1400 distinct users per month recently. This is three times the use of 3 years ago, double the use of 2 years ago, and nearly a 50% increase on this time last year. We have an opportunity to transfer the site onto the NZORD groups template website www.nzordgroups.org.nz (Note: Jan '09 - The LDNZ website can be found at  http://www.ldnz.org.nz). This move has been approved by the trustees and we will advise you all when this move has been completed. This will give us the opportunity to up date our site.

Please check out our website for full reports from the Chairperson and Secretary covering other activities through out 2004/2005. The Trustees of LDNZ wish you all a very Merry Christmas.

Jenny Noble
Secretary
Lysosomal Diseases New Zealand.