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Promoting awareness, pioneering research and providing support and information for those affected by Gaucher disease.

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2012

Dr Filippo Vairo

Dr Filippo Vairo of Brazil has just completed a four week visit to the UK under the Susan Lewis Memorial Award to further his knowledge in the Gaucher field. This is the second UK visit funded through the award; the first was Daniela Avdjieva’s visit in 2009.

Dr Vairo writes ‘I would like to thank the Gauchers Association for letting me apply for the Susan Lewis Memorial Award, for giving me this opportunity to visit some LSD centres and to learn how Gaucher patients are treated and followed in UK.’

He continues ‘Sarah and Tanya (Allard and Collin-Histed in the Gauchers Association office), who are incredible people, organised the whole trip according to some specific interests of mine including home care treatment, management of adults and children, diagnostics and markers, animal models, gene therapy and research in the field of lysosomal storage disorders.’

‘I spent the first couple of days at St Mary’s Hospital in Manchester with Dr Simon Jones, Professor Ed Wraith and the team where I had the opportunity to see some patients on trials, visit the facilities utilized by LSDs patients, discuss some cases and participate in multidisciplinary meetings. Since it is a children’s hospital, I could follow a transition clinic to Salford Royal Hospital where I spent another couple of days with Dr Chris Hendricksz, Dr Reena Sharma and Dr Ana Jovanovic and their teams. I had the opportunity to see some metabolic patients and a Fabry patient on ERT at the hospital before going to home therapy. I would like to thank all the nurses, especially Rebecca, who provided me with some infusion guidelines which will be very important for our patients.’

‘During my week at Addenbrooke’s Hospital with Professor Cox, Dr Deegan and all the team I had such a pleasant time. I would like to express my gratitude to Professor Cox. He has a busy agenda but arranged some time to discuss some interesting cases and projects with me. I had the opportunity to learn how adults, especially Gaucher and Fabry patients have been treated in UK.’

‘It was incredible to visit Healthcare at Home in Burton-upon-Trent and see how all the medication and homecare therapy is delivered and managed in the UK. Unfortunately, homecare services are not widely available in Brazil and it is not covered by our public health system. I would like to thank all the team especially Jill and Kate that organized a visit to a Fabry patient so I could follow her infusion at home.’

‘I also visited Birmingham Children’s Hospital where I could follow a transition clinic and I could see how a great multidisciplinary team works with children and young adults. It would change the way we manage some difficult cases in my country.’

‘In London, thanks to Steve Howe and Simon Waddington I had the opportunity to see some promising work in the field of gene therapy and animal models for Gaucher disease. I would like to congratulate the Gauchers Association for its interest in investing in this type of research that could provide important benefits to patients in the future.’

‘I spent my last days at the Royal Free Hospital with Professor Mehta and Dr Hughes. They were very kind and I could discuss some cases and participate in important meetings.’

‘I also had the opportunity to meet Sarah, Tanya and Don. They are very special and I could learn a little more about the amazing work of the Gauchers Association. It was very helpful and I will help our patients to organize themselves to achieve some benefits in Brazil.’

‘In summary, it was an outstanding visit where I had time to know some LSDs centres, to learn how a successful public health system works and to meet incredible people who have the common objective to help Gaucher patients to have a better life.

I do hope that this could be the start of collaborative works between our countries. I am sure that our patients will benefit from the experience that I had in the UK

Educating Doctors on Gaucher disease in Pakistan

Improving education in Pakistan

Thanks to a grant from the Susan Lewis Memorial Fund, Dr. Hani, a geneticist from Pakistan travelled to Amsterdam to attend physicians training organized by Genzyme Therapeutics.

Dr. Hani has been working in Pakistan to support newly diagnosed families in collaboration with Ati Qureshi, the father of a young Gaucher patient who is working to set up a patient organisation. Dr. Hani writes –

I trained as a geneticist because of the challenges we face in this branch of medicine. When children are diagnosed with a suspected Inborn Error of Metabolism, they are able to be managed accordingly and this has created awareness among physicians and families of the patients with these diseases.

Amongst the many disorders is Gaucher disease which requires immediate attention. Over the period of three months six Pakistani families were given a confirmed diagnosis of the disease via enzyme analysis. Unfortunately in Pakistan there is no facility for enzyme analysis so therefore we have to rely on our international collaborators. It came as a surprise that the suspected cases remained undiagnosed for years which further delayed their management.

My aim is now to establish a diagnostic facility, not only for Gaucher patients but for various other genetic and metabolic disorders. At our hospital, we are also trying to create a metabolic unit where we will be able to cater for metabolic and genetics patients simultaneously. In the future I also expect a high level of collaboration between physicians and families.

I am grateful to Genzyme for supporting patients through their charitable programme of providing enzyme replacement therapy to families in Pakistan, as there is no government reimbursement system in place to treat these children. I would also like to thank the other companies like Shire who are working hard to support Gaucher patients in Pakistan, both now and in the future.

Finally, I would like to thank the UK Gaucher Association and the European Gaucher Alliance (EGA) for their continuous hard work and support, not only in the UK and Europe but in countries where treatment for these types of diseases are a little harder to come by.