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

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2015

During 2015 the Association has supported clinical nurse specialist Niamh Finnegan and Paediatrician Dr Alex Broomfield to travel to India to attend two Gaucher Clinics and present at a metabolic meeting and Dr Aimee Donald, Paediatric Clinical Research Fellow at the Manchester Centre for Genomic Medicine to visit Sweden coinciding with her work alongside the Gaucherite research project; 

Niamh Finnegan writes; I was delighted to be invited by Dr Vellodi to join him and his group to visit India to attend clinics in Chennai and New Delhi and to a meeting with the India Lysosomal Storage Disorders Support Society (LSDSS), patients and families in January this year. I successfully applied to Susan Lewis Fund for support for my trip and I am extremely grateful to the Gaucher Association for approving this and allowing me to partake in what was an inspiring and amazing experience.

Work began on Monday morning with our first clinic at Mediscan. Sadly we missed the flag raising ceremony at the clinic due to very busy Republic day traffic! Dr Sujata and her team gave us a very warm welcome and as this was my second visit to this clinic I was delighted to meet some of the staff I had met on my previous visit 3 years earlier.

Monday was the Gaucher clinic and we saw many patients and families with Gaucher disease. Some families had travelled hundreds of miles to attend the clinic and their dedication to their children and desperation for advice and treatment was inspiring and humbling.

On Tuesday we saw mainly MPS I, II and VI patients in the multi-disciplinary clinic. Many patients we saw were not on ERT and were desperate for help and advice. As with the Gaucher patients, it was an honour to meet these families and listen to their stories but it was also heart breaking.

Early Wednesday we flew to Delhi and went straight to AIMS for a clinic. The team at AIMS were also very welcoming and hospitable. In this clinic we saw a mixture of patients with LSD’s, including Gaucher and MPS and also children with other metabolic conditions. Many families attended the clinic which was held in the boardroom which was a first for me!

We then had a meeting with families and the LSDSS and I gave a talk about how we give ERT in the UK with a focus on home infusions. Families and professionals were very interested in this from a financial saving and also to make treatment more accessible for patients. It was a wonderful experience to meet so many families.

It wasn’t all work and Tanya, Irma and I had the amazing opportunity of visiting Agra and the Taj Mahal. We also had a tour of Delhi and saw all the famous landmarks. Also we had lots of little shopping trips and the colours and smells in both cities in the shops and markets are unique and gorgeous. Even the memories my “life flashing before my eyes” journeys in the auto rickshaws which left me traumatised at the time now make me smile!

I will never forget the experience and I am very grateful to Dr Vellodi for the invitation and the Gaucher Association and the Susan Lewis fund for sponsoring my trip and enabling me to go.

Dr Alex Broomfield writes; “Travel makes one modest. You see what a tiny place you occupy in the world.”1

Given my multiple personnel connections with the Indian subcontinent, father born in Nowshera, 3 years in Delhi as a teenager and subsequent voluntary work in Himachal Pradesh, I need very little incentive to jump at the chance of helping in clinics there.   However given this was possibly my last opportunity to be able to work clinically with one of the true pioneers in the treatment of Pediatric Gaucher, Dr Ashok Vellodi the chance was too good to pass up. I am thus deeply grateful to for the support from the Gaucher Association for enabling me to do so.

Indeed the first day clinic in Chennai, encapsulated and included everything I had hoped for from this trip. In addition to the childhood flashbacks brought on by the apparently random and potentially life limiting decisions of some rickshaw drivers, once at the clinic, the majority of the patients had type 3 Gaucher  indeed  were mainly homozygous for the L4444P mutation. Dr Sujata and her team look after both patients on enzyme replacement and those who have not had the opportunity as, sadly, application for compassionate use programs is still limited. It was sobering for me, whose practice has fallen in these years of increasing therapeutic options to see the severity of some of the visceral manifestations and a stark reminder of the importance of a nationally funded treatment program.  It was clear that the opportunity to discuss with Dr Vellodi and to meet Imra and Tanya was deeply inspirational to the families some of whom have weekly trips of up to 2 days on a train to receive their infusions.

The rest of the trip passed in breakneck speed, a clinic split between the both myself and Dr Vellodi due to the number of patients on day 2 was again a testament to the hard work of all the specialties helping involved in the care of the lysosomal patients.  While the drive of Manjit Singh of the LSDSS and the inventiveness, intelligence and humanity of the staff at AIMS in Delhi made a deep impression, my fondest memory comes from the evening on the last day when I was taken back to the centre of Delhi. Here while drinking saffron flavoured tea, I observed the bartering skills Of Dr Vellodi, whose knowledge of pashminas and current trends in fashion was surprisingly extensive! Indeed I would end by taking this opportunity to thank both all of the rest of the group for helping make this such a memorable trip and as I settle back into work with the team in Manchester to thank both Ashok and Niamh for encouragement and advice they have given me over the years.  I hope this and what I have seen on this trip will stand me in good stead for the future.

1 Flaubert In Egypt- Gustave Flaubert Penguin classics.

Dr Aimee Donald writes: ‘I have been working with the Gaucherite research team for six months and I was delighted to be invited by Professor Timothy Cox to join him on his invitation by the Morbus Gaucher Association to Sweden. The visit was an opportunity to learn more about the Norbottnian form of Gaucher disease and to share ideas about service development in both of our countries.

The Susan Lewis Memorial Award enabled this interesting, educational and enjoyable journey and I would like to thank the UK Gauchers Association for supporting me in this. I travelled with Professor Cox and Dr Nick Smith, a Paediatric Neurologist from Adelaide who is an expert in neuronopathic Gaucher disease. We arrived in Stockholm and went directly to the north of the country where we were met by our hosts, Bosse and Bo. We stayed at the Sunderby Hospital and had the opportunity to meet several patients and relatives. The following day we enjoyed a shared educational conference to celebrate 40 years of the Morbus Gaucher Association.

We proceeded north, eventually crossing into the Arctic Circle, stopping to meet patients and relatives along the way. The scenery was stunning; we spotted reindeer and learnt about the history of the country as we travelled. Bo and Bosse brought a family tree with them which explained the inheritance of Gaucher disease throughout the northern part of Sweden. It was fascinating to hear from families about their experience of the disease and how this has changed in the era of ERT.

We gradually made our way back to Stockholm, where scientists and clinicians from the Karolinska Institute joined us for further educational discussions.  Professor Cox and I then spent time at Lund University with scientists and patients.  

This was one of the first opportunities I’ve had to meet so many patients with the neurological form of Gaucher disease and it has been invaluable in helping to shape my ideas about future research. The hospitality in Sweden was overwhelming and I felt like the trip inspired true excitement about the importance of improving our understanding of Gaucher disease.’