Report on the First Romanian Conference of Patients with Lysosomal Diseases

Vesna founded the Association of citizens for rare diseases “Life With Challenges”– Bitola in 2009. She is a Gaucher patient and patient advocate for rare disease patients in the Republic of North Macedonia. She also co-founded the National Alliance for Rare Diseases of Macedonia in 2014. In 2013 she became a member of the DITA (Drug Information, Transparency and Access) Task Force EURORDIS and she is still a member and volunteer in this group. From 2019 she is also a member of the Rare 2030 Foresight in Rare Disease Policy panel of experts, made up of nearly 200 key opinion leaders in rare disease policy. She is a EUPATI fellow and trainer from the first cohort of patients in 2014.

Vesna Aleksovska has a background in journalism, non-government sector, project management and business consulting and 12 years of experience in patient organizations and advocating for patients’ rights. She founded the Association of citizens for rare diseases “LIFE WITH CHALLENGES” – Bitola in 2009.

She is a Gaucher patient and patient advocate for rare disease patients in the Republic of North Macedonia. Aleksovska is also co –founder and former President of the National Alliance for Rare Diseases of the Republic of North Macedonia from 2014. She is now in the board of NARDM and in the board of the Alliance of Patient Organizations of the Republic of North Macedonia.

From 2013 to 2022 she was a member of the DITA (Drug Information, Transparency and Access) Task Force EURORDIS (European Organization for Rare Diseases). She is also EUPATI (European Patients Academy on Therapeutic Innovation) fellow and trainer since 2015. Vesna is also took part in the
experts’ group of Rare 2030.

She was a director in the board of directors of the International Gaucher Alliance (IGA) since 2014 to 2021. In 2019 (to 2021) she became the Chair of the IGA. In December 2021, she became a projects officer in IGA and now, since 2023 she is in the IGA’s Developmental Programme working with volunteers and Gaucher Leaders from all over the globe.

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
organizations and institutions (government and non-government) on national and international level.

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. She has a certificate for Master NLP trainer, and she is getting her certificate for NLP coach next year. She communicates in English, Macedonian, Serbo-Croatian and Spanish.

Vesna 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. Being a patient advocate for her means building future for
families with rare diseases.

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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.

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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.

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.

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Patricia Lucki, born in Argentina and currently residing in Guatemala, has lived in several countries, including Israel and El Salvador, and has been based in Guatemala and Central America since 1984. She was diagnosed with Gaucher Type I at the age of 55. Patricia holds a degree in Information Sciences and a master’s in Communications, and she earned her PhD in Sustainable Development. She is a co-founder of the Guatemala National Association of Lysosomal Diseases and contributes to public health initiatives through the Health Commission of the Science and Technology Council. Additionally, she works as a consultant for both public and private institutions in digital transformation and innovation and teaches at a local university.

Aimeé-Kate Bosch is a dedicated patient advocate and healthcare professional whose personal journey with Gaucher disease has shaped her life’s mission. Diagnosed in 1996 in a small South African town, Aimeé-Kate was given just six months to live, as her doctors believed there was little hope for treatment due to its prohibitive cost. However, her parents refused to accept this grim prognosis. Their tireless fight to secure treatment for Aimeé-Kate became the foundation of her own advocacy work.

Her passion for patient empowerment and global healthcare advocacy grew significantly after participating in the Go with Gaucher (GwG) programme in 2015, where she connected with other young Gaucher patients from around the world. This experience deepened her commitment to raising awareness about Gaucher disease and addressing the unmet needs of patients globally. In 2018, Aimeé-Kate was elected to the International Gaucher Alliance (IGA) Board, a role through which she has worked alongside key opinion leaders and stakeholders to champion the voices of Gaucher patients worldwide.

Professionally, Aimeé-Kate is a Speech and Feeding Therapist with a special interest in paediatric and adult neurological conditions. Her personal experience with chronic illness gives her a unique and empathetic understanding of patient needs, making her a compassionate and effective therapist. Outside of her professional and advocacy work, Aimeé-Kate enjoys gardening, learning tennis, and sewing.

Through her work, Aimeé-Kate continues to empower patients, foster collaboration, and create a world where no patient has to face their condition alone. Her belief in the strength of community and her commitment to discovering potential in people and processes drives her ongoing work to improve the lives of others.

Aimeé-Kate said, “It is an honour to succeed Biljana Jovanovic who has led us so well during her time as Chair. We have come a long way in the past 30 years and there is still much to do to ensure that every Gaucher patient worldwide has access to a diagnosis and the treatment they need, and I look forward to leading the Board as we continue to work towards this goal.”

 

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.

Read a profile of Tanya in Rare Revolution Magazine

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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.

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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.

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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.

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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.

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Maddie was diagnosed with Type 3 Gaucher Disease in 1996 at the age of 17 months. Since leaving university, where she studied Social Sciences (BSc) and International Development (MSc), Maddie has been passionate about improving the lives of patients and their families. Maddie has also worked and volunteered for the UK Gauchers Association and Aparito. After volunteering for the IGA for several years, she joined the team as the operations officer and works four days a week: Monday, Tuesday, Wednesday & Thursday from 9 am to 4 pm (UK time).

Maddie currently lives in Bath, UK, with her son and husband

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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.

I am a medical student at the University of Zimbabwe, with a passion for genetics and public health. I believe that everyone deserves to live a healthy and fulfilling life, free from the burden of inherited disorders.

I am one of the founding members of the Italian Gaucher Association and am still involved as President of said Association. I am also one of the founding members of EGA-European Gaucher Alliance. I have personally helped children from other countries who were without treatment to come to Italy to be evaluated and treated whilst waiting for their country to allow humanitarian aid so that the children could return to their home countries. I know of a Palestinian child from Jordan who came to Italy when she was about 3-4 yrs. old, type 3. She was not in good health but with the treatment provided to her in Italy and then in her own country, she grew up into a lovely young lady studying pharmacology at the University in Jordan. I myself am the mother of a type 1 Gaucher ‘child’ who is now living and working in Milan and enjoying life like any other young 42 year old man. Gaucher disease can be very challenging but also lots of fun!

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.)

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.

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.

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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.

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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)