Driven by passion for patients
Vesna works in the field of advocacy and lobbying for rights of the rare disease patients in the Republic of North Macedonia through cooperation and communication with organisations and institutions (government and non-government) on national and international level. She believes that through strengthening patients and raising public awareness about rare diseases the world can become a better place to live in for patients and families that face life filled with challenges.
She is also a freelance trainer and consultant in personal and professional development (motivation, communication, organisation, coordination, project cycle management, team building, public relations, etc.) and capacity building of organisations.
Roselyn Odero (Kenya) decided to volunteer for the position of IGA Africa Regional Manager because she felt that Gaucher is under reported in Africa and being one of the few rare diseases with some treatment options, awareness would help both clinicians and patients’ families obtain an early diagnosis which would hopefully lead to early interventions. She was also interested in working with an international rare disease organization to learn new skills in the field.
Iman Tagelsir Mohamed (Sudan) as medical advisor
Area of responsibility: African region (Zimbabwe, Rwanda, Tanzania, Namibia, Lesotho, Kenya, Ghana, Ivory Coast)
Trudy Nyakambangwe (Zimbabwe) is a hemophilia carrier and a mother of two young people. She lost her son to hemophilia when he was two years due to a poorly managed internal bleed. Her daughter is also a hemophilia carrier, and that revelation has led to a renewed participation in the rare disease community. In the last five years she has become the founder of an organization called Child and Youth Care Zimbabwe that provides support for children living with rare diseases. As a patient advocate, she now understands legislation, techniques and tools that can be used to champion the interest of children living with rare medical conditions. She is now the co-founder of Center for Rare Diseases Zimbabwe and a lead in the initial stages of a national registry. Trudy is on the panel of experts for Rare Disease International campaign for universal health for all. Lastly but not least Regional Manager in South Africa Region for International Gaucher Alliance.
Carolina Toneloto mora no Brasil e foi diagnosticada com Doença de Gaucher tipo 1 aos 30 anos. É socióloga e professora, com tese de doutorado em saúde pública sobre narrativas da experiência da Doença de Gaucher em pacientes no Brasil.
Ela também é pianista e bailarina, e acredita fortemente no poder da troca de experiências e da educação em saúde para que a experiência com o adoecimento se torne mais fácil e leve.
Carolina Toneloto lives in Brazil, and was diagnosed with type 1 Gaucher Disease at the age of 30. She is a sociologist and professor, with a PhD in public health on narratives of the experience with Gaucher Disease in patients in Brazil.
She is also a pianist and ballerina, and strongly believes in the power of exchanging experiences and health education so that the experience of illness becomes easier and lighter.
Mi nombre es Zarella Quiñonez soy mamá de un niño paciente de Gaucher actualmente soy voluntaria de IGA con el fin de poder ayudar,orientar a que más pacientes en mi país puedan tener un diagnóstico y tratamiento oportuno pues esa fue una de las barreras para que mi hijo pueda iniciar tratamiento.
Gracias IGA por la oportunidad de poder trabajar en equipo y ser un apoyo para la comunidad Gaucher en Perú.
My name is Zarella Quiñonez and my child is a Gaucher patient. I volunteered at IGA with the purpose of helping and guiding other patients in my country to have a timely diagnosis and treatment, which were barriers that stood in our way.
I am grateful to IGA for the opportunity to work in a team that supports the Gaucher community in Peru.
Paul is a husband, father, and advocate for rare disease patients. As a leader in the global newborn screening community Paul strives to help those impacted by rare diseases find earlier diagnosis which can lead to more positive outcomes, treatments, and lives.
My name is Paul Guijt and I am Gaucher patient type 1. Living with Gaucher is balancing life and Gaucher. Enjoying life, I returned to Gaucher to serve others less fortunate than me. Covid provided me with a lot of extra free time. I enjoy working together now with the other Gaucherians while doing what I like best: researching and writing. Gaucher can be fun!
My name is Nirmal Khadka. President of Muscular Dystrophy Organization Nepal. President: Rare Diseases Society Nepal Country: Nepal. The Rare Diseases Society of Nepal is a non-profit organization that aims to provide support and assistance to patients with rare diseases in Nepal. The organization strives to ensure that no rare disease patient is left behind and works towards promoting the well-being of individuals through the development of health guidelines and awareness programs. It also seeks to promote scientific research with national and international collaborations to support rare diseases.
Area of responsibility: South East Asia region (Bangladesh, Bhutan, Indonesia, Myanmar, Maldives, Malaysia, Nepal, Philippines, Singapore, South Korea, Sri Lanka, Taiwan, Timor-Leste.)
Patricia Lucki (Guatemala) was born in Argentina and has lived in different countries, including Israel and El Salvador and currently lives in Guatemala. She was diagnosed with Gaucher Type I when she was 55 years old. Patricia has a degree in Sciences of Information and an AM in Communications; she is PhD candidate in Sustainable Development and works as a consultant for public and private institutions. She also teaches at a local university.
Area of responsibility: Central America 1 region (Belize, Costa Rica, Cuba, Dominican Republic, Honduras, El Salvador, Nicaragua, Panama and Venezuela)
Andre Balzekiene (Lithuania) will always remember the day she discovered her son was born with Gaucher‘s disease, neuronopathic type. This has changed Andre‘s life forever. The early accurate diagnosis helped to get the treatment as soon as possible and her son can live a life a good happy life, therefore she understands the importance of awareness of this rare disease. Andre emphasizes the importance of organisations like International Gaucher Alliance and social media platforms: “I truly want to contribute to this community by being the regional manager and spreading the message about Gaucher‘s so people would be diagnosed as soon as possible and patients together with the caregivers wouldn‘t feel left alone.“
Area of responsibility: European region (Azerbaijan, Armenia, Belarus, Cyprus, Georgia, Hungary, Iceland, Kosovo, Kyrgyzstan, Liechtenstein, Montenegro, Malta, Monaco, Tajikistan, Turkmenistan, Uzbekistan)
Carine Alsokhn is a Gaucher Patient type 1 from Lebanon. She is a public health officer currently based in Geneva, Switzerland and has experience working with global agencies and collaborating with ministries of health and other relevant national bodies. She previously worked at the Ministry of Public Health in Beirut. She also participated in many awareness campaigns and helped spread the word about Rare Diseases in general and Gaucher Disease in particular, in Lebanon and the region. She is a registered dietitian fluent in three languages Arabic, French and English. She is currently volunteering for the IGA.
I’m Nuha Ahmed, a mother of two fortunate Gaucher patients. I volunteered at the IGA, determined to make a difference, and help those in need. One issue that can be resolved is the language barrier; spreading enlightenment and making everyone aware of available options conveyed in their language can make a huge difference and ensure that no one faces the consequences of ignorance. Thank you, IGA, for giving me this valuable chance to deploy my humanity.
My name is Roxana Gorojod. I volunteer at IGA because I believe that patients matter. IGA works incredibly by assessing patients’ and families’ needs and improving their well-being. I hope to help the Spanish-speaking community to have a voice in IGAs studies and projects.
My name is Ann Neirinck, I live in Belgium and work as a paediatric nurse in the Children’s Hospital of Antwerp for the department rare diseases. I take care of two adult patients and one two-year-old on ERT. My involvement with IGA is not so big as I would wish but I know when I need advice about treatment, I can always rely on them. In the past I was able to attend several meetings abroad and it was one of the most exciting moments in my career. I learned so much of what it means to take care of each other and to work voluntarily for the good course. I can only hope they will go on with their work forever and that people with Gaucher and also caregivers learn about their existence.
My name is Kachengwa Ghambi.
I love supporting initiatives that reach out to improve people’s lives. I develop and implement digital tools for health. I studied Computer Science and Statistics at the University of Malawi-Chancellor College. I am passionate about creating digital tools that support health systems and data analysis for decision-making. I have supported health research projects through the development of research data capture modules as well as the creation of data visualizations.
I am happy to support the work of IGA with my skills and experience. I previously helped women’s health projects by programming tools in REDCap, Open Data Kit XLS/XML forms, SurveyCTO, mWater, mhealth-colposcopy tools using MobileODT EVA, and Periwinkle Smartscope as well as data analysis and visualization in Stata, SPSS, and Tableau. I am always ready to take up new challenges and learn new platforms.
I am also a freelance creative content creator. I develop for print and digital platforms using Adobe Suite (Photoshop, Illustrator, Indesign, After Effects, and Premiere Pro), CorelDraw, WordPress, and Drupal. I enjoy playing and watching football.
Jasenka Wagner is a type 1 Gaucher patient from Croatia. She is founder and chair of the Croatian Gaucher association and member of the board of the Croatian alliance for rare diseases. She is university professor of human genetics and clinical biochemistry at the Medical faculty in Osijek, Croatia.
Her main motivation for being involved as a volunteer for IGA is raising knowledge and awareness about Gaucher and other rare diseases, as well as improving patients care and quality of life worldwide.
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Harry is our Communications & Campaigns Officer. He is a Canadian, but he was born in Geneva, Switzerland and has lived in Canada and the UK. He has an extensive background in journalism and public relations with membership organisations and charities such as the National Farmers Union, the Friends World Committee for Consultation, and the Alternatives to Violence Project. He has also been Editor of a weekly magazine. Harry had a sister who sadly died with a rare disease, and he is passionate about serving the Gaucher community worldwide, helping to raise awareness and empower patients and their families. He works three days a week for the IGA, usually Monday, Tuesday and Friday.
Angel has joined us in the UK office to support the teams operations and finance. Angel works 4 days a week: Monday, Tuesday, Wednesday & Thursday from 9am to 4pm (UK time). Angel has recently completed her A-Level exams at a local Sixth Form college where she has been studying English, Psychology and Business Studies. She has a close relationship with a Gaucher patient family and is delighted to have “A job with meaning” (her words!) supporting the work of the IGA.
Tanya’s daughter Maddie was diagnosed with Type III Gaucher disease in 1996 at the age of 17 months. In 1997 Tanya joined the UK Gauchers Association to support families with children who have neuronopathic Gaucher disease. Tanya’s main focus has been setting up conferences and educational booklets for the neurological families. Tanya has been involved in the International Gaucher Alliance since 2005.
Jeremy Manuel co-founded the UK Gauchers Association in 1991, was its national chairman until 2012 and remains a board director. He was also a founding member of the International Gaucher Alliance and was elected its Chairman in 2008-2016. He is a Trustee of the Helen Manuel Foundation: a Charitable Trust established to support research into Gaucher disease.
Through his work with the Association and the IGA, Jeremy has represented the interests of Gaucher patients both in the UK and abroad to clinicians, scientists, and industry as well as the UK Government and Parliament, the European Parliament and European Commission and the European Medicines agency. Jeremy is a Board member of the European Working Group on Gaucher Disease (EWGGD) and is a Lay Representative to the Highly Specialised Technologies Evaluation Committee of the UK’s National Institute for Health and Care Excellence (NICE).
Jeremy is a practising lawyer and an accredited commercial mediator. He was awarded the Freedom of the City of London in 1994 and an OBE in the Queens New Year Honours List 1999 for services to Gaucher disease and is a Fellow of the Royal Society of Arts.
Biljana is a Type I Gaucher patient, diagnosed in 2008. At the time, it was very difficult for her to accept the diagnosis and support of the Serbian association has meant a lot to her.
Since then, Biljana has been engaged in the organization and was elected as their president in 2014. Her main interests and activities in the association are to raise awareness through public campaigns and cooperation with stakeholders in order to improve position and lives of Gaucher patients.
Biljana joined the IGA board in 2016. As a board director she has been engaged in the International Gaucher Day project. Currently, she is working in the field of supporting member organisations to be more effective and sustainable. Working with the IGA team is a remarkable experience for her and she is very excited to be part of such a great team of people.
In her professional life, Biljana has been working as a social worker in Institution for children without parents for almost 20 years now. Since last year, she also works as a supervisor which is a new exciting challenge.
Aviva Rosenberg is a health care attorney based in Pennsylvania. She has practiced health law throughout the United States and taught as an adjunct professor at several universities.
Aviva was diagnosed with Gaucher disease at age 27, following 20 years of symptoms with no answers. Her son, Eli, also has Type I Gaucher disease.
Aviva’s passion is educating about genetic diseases and screenings and talking about her personal journey with Gaucher disease, including the need to shorten patients’ diagnostic results.
She lives with her husband and three fabulous boys in Pittsburgh, Pennsylvania and is so excited to be part of the IGA.
Kristiyan is a Type I Gaucher patient who was diagnosed at the age of 4. He was one of the first patients to be diagnosed with Gaucher disease in Bulgaria. When he came of age, he took his mother’s position as a vice-chairperson for the Bulgarian Gaucher Association. He has since become an IGA representative and has attended various IGA, EWGGD and Go with Gaucher meetings.
Kristiyan is looking forward to contributing further to the Gaucher cause.
Aimeé-Kate is the IGA representative for Rare Diseases South Africa.
Aimeé-Kate is a type 1 patient who was diagnosed in 1996 at the age of 5 years. She has spent the past 7 years working in patient advocacy, first starting with her local organisation, Rare Diseases South Africa, and then joining the Go with Gaucher program where she has been involved with the IGA since. Aimeé-Kate is passionate about making the patient’s perspective heard as well as raising awareness about diagnosis and access to treatment.
In her professional life, Aimeé-Kate is a clinical Speech- Language and Feeding Therapist, working with adults and children who have neurogenic communication and feeding difficulties.
Francisco was born in 1964, in S.Miguel island (Azores-Portugal), where he lives. He is a Gaucher Patient type I with a late diagnosis at the age of 21, in 1986, despite having health problems since he was a child. However, he only started his ERT in 2000 with a very quick improvement in his life quality. Since than he became a very sporty person.
Professionally he is a biologist with a master’s degree in business administration, having been a high school teacher, although most of his life has worked as manager of the family’s commerce and tourism business. Francisco is member of the Portuguese LSD association as President of the General Assembly. In recent years, in good health, he his dedicating much of his time giving his life testimony as a way of motivating other patients and participating in many events to raise awareness for rare diseases.
Since May, 2022, he became a member of IGA’s board with the expectation of being able to bring a valid contribution to the great work and development of the IGA as well as being able to learn even more from the fantastic team that constitutes this association.
Sara was diagnosed with Gaucher Disease Type 3 in 1994 at 16 months old.
She lives with her mum, two younger siblings and a cat in Bradford, North of England.
Pali is the IGA representative for the Mexican LSD association “Proyecto Pide un Deseo México”.
Pali, a type 1 Gaucher patient and has been a part of the IGA’s communications taskforce since she was an IGA board member. She has been a bridge with the hispanic Gaucher community and is always trying to make all IGA content more adapted to their reality and language. Pali believes in the power of teamwork and friendship and tries to make everyone who gets to IGA welcome and part of a big lovely family.
Suyog is from Mumbai, India, and has been a volunteer of LSDSS India, a member organization of the IGA, since 2010. Suyog became associated with the work of the IGA in 2012. Since then, he has been actively involved in patient advocacy initiatives for Gaucher and other LSD patients both nationally and internationally.
Given his desire to help Gaucher patients throughout the world, in 2018, he accepted the role of a Regional Manager (South Asia) for the IGA, being responsible for the countries of Sri Lanka, Bangladesh, and the Maldives. Subsequently, in May 2020, he was also elected as a Director on the IGA Board.
Suyog is pursuing a career in engineering and is passionate about travelling, photography, and driving.
Irena co-founded the Slovenian Gaucher Association in 2003 and was elected its chairman in 2009. She holds a PhD in Biology.
Irena became an IGA director in 2009.
Atif Qureshi (Pakistan) is the founding member and president of Lysosomal Storage Disorders Society, a nonprofit organization working to raise awareness for rare disorders. The organization also provides genetic counseling to affected families and campaigns for early diagnosis and effective therapies in Pakistan. Atif got involved in the rare disease space and determines to advocate after both his daughters were diagnosed with Gaucher disease. He is currently working on multiple projects with pharmaceutical and genetic companies and global patient groups.
Area of responsibility: Eastern Mediterranean region (Afghanistan, Bahrain, Iran, Iraq, Kuwait, Lebanon, Oman, Qatar, Saudi Arabia, Syria, United Arab Emirates, Yemen)