15th April 2015

International Pompe Day

 

Pompe Update

Healthcare at Home

Deliveries Statement

 

GSD Giant 2015 

Annual cyclo-sportive.

6th September 2015

The Petersfield School

100, 64, 32 mile options

 

GSD Giant website
  

 

Profiles of trustees and officers

We hope these short profiles will help you get to know the people who volunteer their time and expertise to direct and manage the Association on behalf of our members. If you are interested in the possibility of becoming a Trustee or volunteering as an officer, please contact the Chairman, Mike Porter

Trustees

Michael Porter – Chairman

Mike has worked in a number of different industry sectors but spent twenty years in the technology and business process outsourcing market, where he became Managing Director of a business with over two thousand staff. He has lived and worked in the UK, Europe, Japan, USA and Canada. In 2009 he set up his own Management Consultancy business and continues to support a number of small and medium sized companies as well as providing coaching support to senior managers.

With a Masters degree in Business Administration Mike went to school and university in Lancashire though he was born and raised in Scotland moving to England when he was seven.

Following a four year spell living in Denver Colorado Mike returned to the UK in 2007 and is now settled in the picturesque Eden Valley in North Cumbria. He is a keen walker and motor cyclist and has been a supporter of Preston North End for close to 50 years. His eldest two children are married and the youngest is currently reading English at Hull University.

His wife Amanda was diagnosed with Adult Onset Pompe Disease (GSD Type II) in January 2011 and participated in the recent Embassy study. She commenced treatment with Myozyme in December 2011 and moved to home infusions in July 2012.

 


Ann Phillips – Trustee

Born five years before World War Two, Ann was raised in the high desert of Nevada, USA, where she drove cattle with her father in the summer and attended school in Reno in the winter. She moved to California when her mother married a GP. At school she enjoyed the sciences and history and played the double bass in local orchestras.

Ann’s university time culminated in a Masters in Physics from Marquette University in Milwaukee, Wisconsin. Her thesis was on the structure of an organic molecule using Raman spectroscopy. Ann found employment as a physicist for the US Navy at Hunter’s Point, California. She won a two-year Navy scholarship to Imperial College in London, where she met her husband-to-be and settled in the UK in 1965.

Peter, Ann’s fourth child, was born in 1972. After 6 months of almost continuous hospitalisation and following a liver biopsy he was finally diagnosed with Von Gierke’s disease (GSD Type Ia) at Great Ormond Street Children’s Hospital. Ann read everything on this distressing disorder. At a conference held by the Research Trust for Metabolic Diseases (now called CLIMB) she met the Del Mar Family and they decided to form a charity for GSDs. The story of how the family struggled to find the best treatment for Peter was told in the RTMDC newsletter.

Up to the 1970s families were not allowed by the medical profession to meet, saying “each child is different and your child’s treatment will be unique”. Thanks to the pioneering of families like Ann’s, we now have conferences attended by patients, families, professionals and pharmaceutical companies.


 

Wendy Bascal – Trustee


 

Jayesh Pindolia – Trustee


 

Patrick Phillips – Trustee and Deputy Chairman


 

 

Staff

Allan Muir – Development Director and Type II Co-ordinator

Allan Muir was appointed the AGSD-UK's Development Director in December 2010.

Allan is an aerospace engineering software consultant by profession but became involved in the AGSD-UK after his son was diagnosed with Pompe Disease (GSD Type II) at the age of two. Since attending their first AGSD-UK meeting at a scout hut in Kent, Allan and his wife Barbara benefitted from the extensive networking with other families and medical professionals afforded by this small charity. In 2001 Allan succeeded Kevin O'Donnell as Pompe Coordinator and shortly afterwards was elected onto the board of the International Pompe Association (IPA), a federation of nearly 40 national patient support groups. He now Chairs the IPA and so splits his spare time between the UK and global Pompe communities. Allan recognises the need for small charities to network widely and so maintains close connections with other Neuromuscular and metabolic disease groups, particularly the UK Lysosomal Storage Disease (LSD) groups.

The approval of Myozyme for Pompe Disease has brought with it a much greater awareness of the condition within the UK. Consequently, as the number of diagnoses increases and as the surviving Pompe infants develop and meet previously unattainable milestones, the demands on the charity are greater than ever. For this reason Allan is working hard with the AGSD-UK board to develop the charity into a professional service for all GSD families.

Allan took part in the sponsored Vietnam Bike Ride in 2003 and then organised the Costa Rica Bike Challenge in 2006. Both were ground breaking for the charity and raised substantial funds.

Allan’s son Jamie was enrolled on a trial for enzyme replacement therapy at the age of 15 involving fortnightly trips to Rotterdam for over a year. Despite surgical correction for scoliosis his still plays a tough game of tennis and is following his dream to work in the film industry.


 

Past Trustees

Andrew Wakelin

Although he had symptoms from age 4 Andrew didn’t get a diagnosis of McArdle Disease (GSD Type V), until age 30. He had no help at all for 20 years until a friend’s internet search led to him joining the AGSD in 1999. He worked with Nick Owston to support the UK’s only McArdle clinic and was appointed the AGSD’s Type 5 Co-ordinator in 2004. Andrew is less badly affected than many and feels this may be down to having avoided anaerobic exercise and kept active with aerobic exercise from his early years. He hopes to help other people with McArdle’s improve their life experience of the disease.

A typographic designer by training, Andrew was for 30 years managing director of a design company he built from scratch. Then for 10 years Chairman of a company developing software for the design, advertising and publishing industries. Now aged 63 he is a part-time consultant and devotes a lot of effort to a number of charities including the AGSD.

An ex-paraglider pilot, accident investigator and world record holder (long superseded), Andrew was for many years on the UK governing body for paragliding. He brings that experience to the AGSD in addition to his experience in the management and development of small businesses and charities. In 2009 Andrew assisted the Trustees to convert the Association into a company limited by guarantee and was elected a Trustee. He was elected as Chairman of the Association in November 2009 and is keen to see it improve its governance and expand its activities.

Andrew lives in mid Wales. Using techniques he has developed to cope with his McArdle’s he has climbed all 188 of the Welsh mountains over 2,000 feet, and mountains around the world. He copped out 200 feet short of the 19,340 feet summit of Mount Kilimanjaro blaming altitude sickness rather than his McArdle‘s. Andrew organised and led the "Walk over Wales" awareness- and fund-raising event in 2010.


 

Sue Del Mar

After a varied education involving some ten educational establishments dotted round the world Sue obtained a degree in mathematics at London University. After that she worked as a Sales Engineer with Hawker Siddeley on the Trident aeroplane until she got married. Later on she became a science teacher.

Hugo, Sue’s second child, was born with GSD Type Ia and her husband and she went through many of the traumas associated with having a GSD afflicted child.

Sue met Ann Phillips in 1974 and together started AGSD (UK) with a meeting in Sue’s house for just a few families. From this humble beginning the annual meetings graduated through scout huts, public houses to our present venues in hotels. AGSD (UK) was registered as a charity with a mission statement to support parents, raise the GSD profile within the medical profession, distribute information and fund research.

Sue has been AGSD Treasurer and Membership secretary since its inception and has been amazed at the growth of our membership over the years. In the early days we only had Type I and Type III members as they were almost the only types diagnosed by doctors. However as the years progressed additional types were diagnosed and as a result our membership also diversified into more types.

Sue feels very lucky in that Hugo was monitored from six months old by Professor Wolff and then Professor Leonard at Great Ormond Street Children’s Hospital until he was nearly twenty years of age, which was well beyond their remit. Sue had a meeting with Professor Elias, who was head of the Liver Unit at Birmingham Queen Elizabeth Hospital and he agreed to set up an adult clinic which would also take patients from the Birmingham Children’s Hospital when they became adults. Hugo became their first patient.


 

Mary Middleton

Mary has Glycogen Storage Disease Type IA (Von Gierke). Mary presented with severe hypoglycaemia within hours of her birth and after a very traumatic fifteen months and three pounds up on her birth weight (8½ pounds at birth and 11½ pounds at fifteen months), she was diagnosed at Great Ormond Street Hospital for Children and was treated under the excellent care of Professor James Leonard and Dr Philip Lee. Mary is the youngest of three children and the only one with GSD.

After a normal education, Mary graduated in 2001 with a 2:1 degree in History of Art from the University of Leicester and enjoyed academia so much that she became the eternal student and continued at the university and gained an MA in Humanities and an MPhil in History of Art. Her research interests lie in religious art of late medieval England and the effects of the social, religious and political changes of the Reformation on art and architecture, with a side interest in the Napoleonic Wars. Her MPhil was an 80,000 word thesis on Angelology and the Angelic Hierarchy in English art from 1450-1650. She left academia in 2010 to pursue pastures new, away from the library stacks. She now works as a director in an investment property and development company.

Mary has frequent meals and cornstarch during the day. At night, she still has her nasogastric feed as her sugar levels do not last long enough to have cornflour during the night. In 2011 she married Dominic Middleton and they reside in Leicester. Her hobbies include ballroom dancing and hiking. She and her family attended the earliest meeting of the AGSD and is delighted to have joined the board of trustees.


 

Clive Tonks

Clive qualified in medicine at Leeds Medical School in 1955. He did postgraduate training in Leeds, London and Yale, ending as a consultant at St Mary’s Hospital and Medical School London from 1969 to 1991.

The first sign of muscle problems occurred in 1966, aged 34. Many different diagnoses were entertained over the years and progression was exceedingly slow. The correct diagnosis (Pompe’s Disease, GSD Type II) was made in 1997 when very serious respiratory failure occurred, necessitating 10 weeks in intensive care. Since that time, Clive has used a ventilator at night.

Clive brings a high level of medical knowledge to help the association and his own experience of a glycogen storage disease has been invaluable in allowing him to empathise with other patients and families.

Clive was the Honorary Secretary of the AGSD from 2002 to 2009 but decreasing mobility has necessitated reducing his commitment somewhat.

Clive has been extremely fortunate in having enjoyed selfless and loving support from his wife Joyce as his disablement has increased. He has three adult children who are all carriers of the Pompe gene and five grandchildren who all appear to be quite normal. The family is still thinking about whether to have them tested for the gene.

Clive retired as a Trustee in November 2010.


 

Hugo Del Mar

For many years Hugo Chaired the meetings of the Committee and was Type I Co-ordinator. Family and business commitments led him to stand down from the board in early 2011.