Providing second hand ventilators to people in need of ventilation (Pompe patients, SMA patient, MPS patient) in Iran, Australia, Philippines and the Ukraine. Sponsors to enable transport are: DHL Iran, United Pompe Foundation USA, Protestant Church Varsseveld (The Netherlands), Dutch Charity for the Ukraine.
Providing electrical wheelchairs and a manual wheelchair to people in need in the Philippines and Turkey. Sponsors to purchase these wheelchairs are: Australian Pompe Association, Local Charity in Doetinchem (the Netherlands), Protestant Church in Varsseveld (The Netherlands), Private sponsor in Doetinchem (The Netherlands), Harting-Bank (The Netherlands), Community Oude-IJsselstreek (The Netherlands), Community of Doetinchem (The Netherlands).
Helping to get a good hearing device for a hearing impaired young man (18) with a rare disease in Bangladesh. The financial donation was provided by ‘Care Beyond Diagnosis’, an organisation that supports people with a rare disease.
Supporting rare disease patients and physicians to get access to treatment.
Providing medical information (publications) and experienced based knowledge on medical issues regarding Pompe Disease to physicians in Taiwan, India, USA, Croatia, Serbia, FYR Macedonia, Greece, Italy etc.
Supporting parents to deal with the loss of their child due to Pompe Disease.
Supporting a mother without financial means in Russia to purchase a grave for her child that died due to infantile onset Pompe Disease. Sponsors were: United Pompe Foundation USA and the Australian Pompe Association.
Informing parents about genetic counselling and explaining the genetic issues involved including the risks.
Supporting patients and parents to get a correct diagnosis.
Advising people with ventilation how to organise their flight.
Improving the conditions in the EU for people needing to use ventilation during a flight. A two year activity to get it through EU parliament and EU Commission. Interpretative guidelines were issued in June 2012 [http://ec.europa.eu/transport/themes/passengers/air/doc/prm/2012-06-11-swd-2012-171_en.pdf] . This was achieved in collaboration and with support of Mrs. Emine Bozkurt, EU member of parliament.
Working with manufacturers of ventilators to get the necessary certificates to show airlines the medical equipment can safely be used during the flight.
Providing education (upon request) on Pompe Disease, Biotechnology, Disability in general, Genetic Diseases, Animal Laboratory Testing at primary and secondary schools in Ulft, Winterswijk, Aalten, Zutphen, Duiven, (The Netherlands).
Giving information (upon request) on Pompe Disease and the impact of the disease at two primary schools (age 5 till 12) in the Netherlands to support two infantile onset Pompe patients.
Giving presentations (upon request) at three organisations in Varsseveld (Welfare Organisation, Vrouwen van Nu and Protestant Rural Women’s Association) on Pompe Disease and rare diseases in general.
Giving a presentation (upon request) on Pompe Disease to volunteers for the Princess Beatrix Muscle Fund in Varsseveld.
Supporting (upon request) university students to write their graduation paper on Pompe Disease, Rare Diseases or Journalism by reviewing their papers and thesis.
Helping a Turkish woman with chronic disease to take refuge from her husband (bringing her to consulate to file a divorce, involving the police, finding shelter etc). She is divorced and safe now and living independently.
Writing a brochure for Comité Mensen & Bijstand (Committee for People with Minimum Incomes).
Supporting the Alzheimer Association to get access to migrant people in Doetinchem and to enable them to do a survey among this group to get insight in the knowledge on Alzheimer in this group and their problems.
Supporting a professor from Leiden University to get access to migrant women for research on knowledge on genetic issues in the migrant population.
Active participant in working group ‘De Rode Bril’ (August 2012 – May 2015) till to improve the possibility of independent living for people with a disability in the Netherlands. [Werkgroep de Rode Bril]
Providing input to the Global Research in Pediatrics (GRIP) EU project and Asterix EU project.
Supporting a girl (age 9) with a rare disease in Pakistan to raise funds for a surgery in the USA. Getting her a sitting cushion and back support for her wheelchair.
Upon request by the Ukrainian Gaucher Association providing information to rare disease patients in Ukraine with an online presentation on ‘EU principles and approaches to rare diseases treatment. The importance of therapy continuation’.
Participating in a volunteer project with the aim to improve the lives of people with rare diseases in Armenia by supporting physicians to improve knowledge, expertise, access to treatments etc.