The current members of the LDNZ board are as follows:
Profile: John is a parent of adult twins who both have a rare Lysosomal disorder, Alpha-Mannosidosis. He was one of the founders of LDNZ in 1999 and has kept up continuous involvement on the board since that time. He also set up and ran the NZ Organisation for Rare Disorders from 2000 to 2015, and has contributed to the development of several local and international rare disease and related advocacy organisations.
Prof. David Palmer
Principal Research Officer
Profile: Prof. D N Palmer, Principal Research Officer, Lincoln University.
Animal and Food Sciences Division
Since 1980 my research has concentrated on animal forms of Batten disease, particularly in sheep, studied to gain insights into the human diseases. The discovery that the different forms of Batten disease are protein storage diseases was made this way.
Recent studies by our group suggest a role for inflammation in the disease and we plan to test anti-inflammation therapy on the sheep. Major support for these studies has come from the US National Institutes of Health and other support from the Neurological Foundation.
During this work, and through networking and parent-scientist meetings, I have grown to appreciate the human dimension of Lysosomal diseases, and want to do what I can to share what I know.
Profile: Paul is the parent of James who has MPS II (Hunter Syndrome). James received a transplant for his condition when he was 5 years old with his sister Maggie providing the perfect match in donor cells. James was also the first transplant patient to receive enzyme replacement therapy for several months prior to the transplant, following a high profile battle with Pharmac through current affairs TV. Paul has supported LDNZ and NZORD in a number of Rare Disease Day and medicines funding workshops we have held to work towards improved access to medicines for our families in need of treatment.
Paul’s background is in venue catering. The family moved from Christchurch to Auckland earlier 2014 so that Paul could take on the Venue Catering Managers role at Eden Park Stadium.
Technical Officer and PhD candidate
Profile: Since 2000 Nadia has been working as a research technician in the Batten disease research group at Lincoln University, looking at the molecular genetics and neuropathology of ovine forms of Batten disease.
In March 2013, Nadia began a full-time PhD study, concentrating on gene therapies in the sheep and their potential translatability to humans. Alongside this, she is developing potential bio markers to detect any amelioration in disease progression from such therapies.
Attendance at a number of national and international Lysosomal storage diseases conferences has given Nadia the opportunity to meet an liaise with fellow researchers, clinicians, parents and patients. As a mother to youngsters herself, she has a real affinity with and respect for families with lysosomal diseases.
These four members of the board support and oversee the day-to-day work of the Trust performed by our field officer/administrator Jenny Noble.
Field Officer | Administrator
Profile: Mrs. Jenny Noble is the parent of two young adults with Mucolipidosis Type III (Pseudo-Hurler Polydystrophy).
Since the diagnosis of her two children Jenny has spent many years searching and advocating for innovative ways to manage the complications of Mucolipidosis. Through this advocacy Jenny has built up strong international networks with Professionals, Families and other support groups to improve outcomes for families with Lysosomal Diseases.
Jenny is currently the Field Officer/Administrator for LDNZ, Vice President/Administrator for ISMRD “The International Advocate for Glycoprotein Storage Diseases”. Though not trained in health or science, she is one of the co authors of The Osteodystrophy of Mucolipidosis Type III and the Effects of Intravenous Pamidronate Treatment published in the Journal of Inherited Metabolic Diseases.