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In April 2005, Jenny Noble and her daughter Sarah travelled to the USA, with costs of travel partly supported by funds granted to LDNZ by the Rehabilitation Welfare Trust, and with funds from LDNZ, to participate in the annual board meeting of ISMRD, the International Advocate for Glycoprotein Storage diseases, and to take part in a special workshop on Mucolipidosis and Mannosidosis that was run in conjunction with a fundraising event in Michigan. Jenny had a key role in planning and organising the workshop, and finding sponsorship for the professionals who attended. Here is her report:

In putting this report together I firstly want to acknowledge the financial support Sarah and I received from LDNZ to travel to the United States. My time spent in the States was extremely busy, with meetings, interviews, fundraising and the running of a one day workshop for families with Mucolipidosis and Mannosidosis.

Although much of what I am writing in this report relates mostly to Mucolipidosis it is also about networking with researchers and building working relationships with other support groups.

My first meeting on 14^th April was a phone conference with Barbara Wedehase, Executive Director and Steve Holland, President of the National MPS Society and Terri Klein who is a board member for ISMRD.

1. This meeting was about finding a way to improve the knowledge base for families with ML through the National MPS Society.
2. To talk about how the Society can up date their website and information booklets for ML.
3. To find a way to improve the way they deliver information for ML and Mannosidosis etc at their National conferences.
4. To clarify what research initiatives they were supporting and which disease groups were going to benefit from this research.

We were very excited to hear that the Society has been supporting research in ML for a number of years and to hear that Dr Giger from Philadelphia has had funding to do research on the I-Cell animal model. His research paper is due out in July.

The research initiatives being undertaken for the next 2 years by the NIH (National Institute of Health) and the LSD consortium of which the MPS Society are one of the partners , are CNS involvement and Bone and Joint disease in Lysosomal diseases. Terri and I were able to bring to their attention the issues that some ML children are now facing with CNS involvement, and bone disease in ML, Mannosidosis, MPS6 and Gaucher Disease.

I was also able talk with them about our MPS6 patient here in New Zealand, who has been using Pamidronate for the last year and the improvements that have been seen. We talked at length about Pamidronate and how the studies that have already taken place can be included into future research.

This meeting was a very important first step forward in understanding just what the National MPS Society is doing in terms of supporting research opportunities for Lysosomal Diseases. I believe through collaboration and communication both ISMRD and LDNZ should be able to stay up with what is happening in the research areas for the diseases that both groups support.

My next meeting was in Baltimore on 15^th – 16^th April to attend ISMRD’s annual board meeting, where we set our goals and objectives for the next two years. A huge part of our forward planning was in areas such as Therapies, New Born Screening, Gathering Natural History surveys for our super orphan diseases, Bio banking, Fundraising, and conferences.

On the 18^th April John, Judith Forman, Stephan Tiede from Germany and myself met with Dr Jessica Caverly, Dr Urs Giger, Dr Mark Haskins, Ms Angela Huff, Mr Adam, Seng, and Dr Charles Vite at the University of Pennsylvania, school of Veterinary Medicine.

Drs. Giger, Haskins and Caverly all gave presentations on the work they were doing and in return John outlined our agenda items which covered the following areas.

• ISMRD our history and current activities
• Research opportunities
• Bio Banking
• Collaboration with Stephan Tiede and the team in Philadelphia.
• Bone Disease, Human and animal model studies
• Stephan Tiede’s work on Gene Mutations in ML and Prof Sillence’s work with Pamidronate.

Stephan Tiede gave a presentation on the work he is doing on Gene Mutations in ML and I gave a short presentation on Pamidronate treatment for bone disease.

From these presentations Dr Giger indicated that his team would like to collaborate with Stephan as they are doing similar work. Dr Haskins on receiving the human protocols for Pamidronate treatment said he would be willing to trial the affected I-Cell animals on Pamidronate. But we all acknowledged that we need an International study of both animal and humans using this treatment to produce accepted International protocols and procedures for Lysosomal children.

Dr Haskins then took us all on a tour of the animal colonies where we did get to meet the I-Cell cat with her three kittens two of whom were affected with ML2 and the other unaffected. We were shown animals that had been treated with ERT and others that had been treated with Vectro Virus. We were all amazed at how well the University is set up to deal with all kinds of animal care, just as our own hospitals are set up. All in all this was an extremely useful meeting and once again through communication and collaboration we should be able to see more research happening in bone disease for LSD’s.

I returned to Michigan on 18^th April to continue working on the last minute tasks needed to run our workshop held on the 23^rd April.

Prior to this though Terri Klein and I did a radio interview with Radio WAAM. This was to part of our build up to the workshop and of course our walk/run to raise much needed funds for research for our 9 diseases. This radio interview also gave me the opportunity to talk about LDNZ and the families we support here in New Zealand, but our focus was about public awareness for Glycoprotein storage diseases.

Our workshop was a huge success with 31 families attending, but for the first time ever in the History of Lysosomal diseases I am very proud to announce that we had 28 ML2 and ML3 families joining together on mass, with 3 families with Mannosidosis also present. We also had several families with MPS joining us and giving us their support.

I want to thank John for once again being my mentor and jumping in where there was a need, we shared the conference moderator’s job with a real kiwi flavor. Our Drs did an incredible job. Prof David Sillence arrived on Wednesday evening and spent all day Thursday seeing families and their children before making two presentations on Friday. Once again I saw him going far beyond the call of duty. I must also acknowledge the work of Drs LeRoy and Patterson. Many families commented on how accessible they were. These 3 men did an incredible job in seeing that each and every family went home with more information than they came with, and of course I cannot forget Stephan Tiede and his work on Gene Mutations in ML, and the information and hope he has given all families with ML.

Saturday 24^th April saw Sarah and I heading off to ISMRD’s first ever major fundraiser. The day was cold in fact it started to snow, so there were very few walkers but people turned up just to register, pick up their tee shirts and leave their donations.

In my final week in the States Terri her daughter Jenny and Sarah and I did two TV interviews about Glycoprotein Storage diseases and how Mucolipidosis affects our children. We also talked at length about Pamidronate and what lead onto firstly Hayden and Sarah trialing the drug and how we now have children all around the world using this treatment. We also talked about how we need research and funding to support research opportunities for Glycoprotein storage diseases. To date we have raised $40,000US and expect that once our stories go to Air we will start to receive further donations.

Sarah had the time of her life. Being able to meet for the first time other young people with ML and talk with them has meant so much to her. I enjoyed listening to them all talk about Pamidronate and how much better they all feel, but also to hear of their improvements in mobility and quality of life is incredibly rewarding.

In summing up our time away, I believe we have created many opportunities not only for Mucolipidosis but for other LSD’s. We are now very aware of the research that is about to happen for bone and joint disease and CNS involvement in Lysosomal Diseases. We have Dr Haskins prepared to trial Pamidronate in I-Cell and MPS 7. This in itself is a huge step forward in trying to understand just what is really happening in the bones in LSD’s.

I want to thank LDNZ for supporting both Sarah and I in our endeavours to further the cause for Mucolipidosis and other LSD’s.