Jackie James, President, US

Profile: Jackie James is the mother to Anna who is affected by Mucolipidosis III. Jackie and her husband Bret also have a son, Peter who is unaffected. Jackie keeps busy running her English tea room in St. Louis, MO, home schooling Anna and taking care of her family. She is looking forward to working toward raising as many funds as possible for ISMRD and helping to move forward the ISMRD mission.

Mark Stark, Treasurer, US

Profile: Mark Stark is the Principal at Stark Tech Consulting, a consulting firm specializing in high-tech product development and market launch.

Mark is also the father of five children. The youngest, Robert, has Alpha-Mannosidosis, and has received two bone marrow transplants. The most recent was in April of 2002 and is, to date, successfully engrafted. Mark’s experience with non-profit organizations comes mostly from his wife, Kathleen King. She is currently Executive Director of the Healthier Kids Foundation of Santa Clara. The mission of Healthier Kids Foundation is to ensure access to and advocacy for health care services for all children through family-centered and innovative approaches, and she is a board member of a number of California based non-profits.

Jenny Noble, Vice President, Research and Administration, New Zealand

Profile: 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, industry and other support groups to improve outcomes for families with Lysosomal Diseases.

Jenny joined the Board of Directors in 2004. 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.

Carolyn Paisley-Dew, Vice President Communications, Australia

Profile: Carolyn joined the ISMRD Board following the death of her son in September 2006 at the age of 10. Matthew had Fucosidosis. Carolyn, her husband Chris and their two other children, Isabella and Dominic, live in Canberra, the capital of Australia. Carolyn works for Barnardos Australia, supporting foster carers. She holds an Honours degree in French, with sub-majors in Mathematics and Psychology from the University of Western Australia, and a Graduate Diploma in Management from Monash University, Victoria, Australia.

Carolyn’s dream is to see newborn screening and treatments for all the glycoproteinoses.

Juanita Van Dam, Board Member Chair Fundraising Committee, Australia

Profile: Juanita is the mother of 3 children, 1 unaffected Jayden and 2 with Mucolipidosis III Damian and Jesse-Rose. When they were diagnosed I was devastated to find out there is no known cure. I feel very fortunate to have found ISMRD & family support groups online.

Until now I have been very passionate in the Union and Labor movement for people’s rights & conditions in Australia. I believe this will now carry me through to advocate and push for a cure for ML3. I work full time in Human Services and spend my spare time with my gorgeous children to enjoy as much life as we can, while we can.

Kevin Gates, Board Member, United States

Profile: Kevin lives in Southern California and is the proud father of two adult children. Spencer was born in 1997 and diagnosed with Mucolipidosis III in 1998. Sydney was born in 1999 and is unaffected. Both kids are currently attending college. Kevin has been a member of ISMRD since 2006 and has attended 12 rare disease family / medical conferences around the USA. His late wife Andrea was also on the ISMRD board of directors prior to her passing. In the past they successfully fundraised and advocated for ISMRD. Kevin looks forward to again getting involved to promote and fundraise for ISMRD to find a cure to these rare diseases. Kevin continues to enjoy a 25 year plus career selling back-up power generators. He also enjoys surfing, reading, watching TV, home maintenance and fellowship through his Catholic church.

Daniel Peach, Board Member, New Zealand

Profile: Dan Peach is passionately committed to curing rare lysosomal disorders through a tight knit community of researchers, clinicians, patients and families. Dan has seen and experienced first-hand the daily battle of ML1. Dan joins ISMRD with over 15 years experience in market research and analytics that enables him to stay at the cutting edge of new discoveries and how they may be applicable to Lysosomal conditions.

Shirley Jamil, Board Member, England

Profile: Shirley is mother to Sam who has MLlll. Shirley and her husband Shamim have another child, Edward, who is unaffected. Shirley runs her own business as an Holistic therapist offering treatments such as Acupuncture, Massage, Bowen Technique, Reflexology and Reiki, which she also uses to help ease Sam’s pain and keep it under control. Shirley works to promotes awareness of Mucolipidosis, including through photographing wristbands in interesting locations and posting to social media and review sites. She also promotes to families, in particular in the UK and Europe, the support available to them within the ISMRD. Shirley is excited at joining the Board of Directors to help further the mission of ISMRD.

Darko Jamnik, Board Member, Slovenia

Profile: Darko lives in Ljubljana, the capital of Slovenia, with his wife Mojca and two children: Žiga, affected by MLIII, and Daša, who is unaffected.

Since leaving his job at Slovenian railways in 1999, Darko has worked at different positions in an IT department at one of Slovenia’s financial institutions.
 
Darko was impressed with the people he met at the last two ISMRD conferences in Rome and Atlanta, Georgia. He decided to accept the invitation to become a board member because he considered it a privilege to participate in ISMRD work with the people he had met. He intends to do his best to help ISMRD achieve its goals.

Pam Tobey, Board Emeritus, US

Profile: Pam is the mother to Autumn who is a MLIII adult. Pam and her husband, David, live in Arkansas and are parents also to another daughter, Michelle. She is a hairdresser and owner of her own salon.

Pam has conducted several fundraisers in her very small town…from baking and selling giant cookies to having gigantic yard sales. She is extremely passionate about finding funds for the ISMRD and dreams of the day when research is “rolling” and a cure found for Glycoprotein Storage Diseases.

Jenny Klein, US

Profile: Jenny Klein is an adult patient with Mucolipidosis Type lll (Pseudo-Hurler Polydystrophy). She joins the board with 15 years of patient advocacy experience and a Master’s degree in Physiology from North Carolina State University. Jenny currently works as a biomedical research scientist, accelerating rare disease drug discovery by utilizing machine learning techniques at Collaborations Pharmaceuticals Inc. She holds a position on UNC Children’s Hospital Family Advisory Board where she advocates for patient centered care, and a position on the National MPS Society’s Adult Resource Committee where she provides resources to the affected adult patient population to help them live fulfilling and independent lives. Jenny has several publications including a Nature Materials publication “Exploiting Machine Learning for End-to-End Drug Discovery and Development.” 

Truls Roll, Norway

Profile: Truls lives in Bergen, Norway with his family; his wife Birthe and their 3 children Pernille ML III, Mia & Stine (who are both unaffected).
Pernille war born in 2009 and diagnosed with MLIII in 2012. Since then we have all attended all 4 ISMRD rare disease family/medical conferences in both USA and Europe.

After many year in finance Truls now works with HR as Head of the business area in an international consulting company.
Truls is excited to join the Board of Directors to help further the mission of ISMRD to find a cure to these rare diseases.