A Message from Toni Mathieson, Executive Director of the Niemann-Pick Disease Group (UK)

Helen and Pete Carter first contacted the NPDG (UK) in the summer of 2007, following the news that their daughter, Hollie, had been diagnosed with Niemann-Pick Type C Disease (NP-C). Helen found the Group’s details on the internet, and was then able to access much needed support and information. The family received information to help them understand the disease, including leaflets to hand out to friends and family. Helen and Pete were given contact details for the NPDG (UK) Clinical Nurse Specialist, Jackie Imrie, and through her the family were referred to Prof Ed Wraith, Consultant Paediatrician and expert in metabolic diseases.

The last two years, waiting for a diagnosis, had been far from easy for the family, and they were now embarking on an unknown journey with NP-C. In spite of this, Helen and Pete decided to launch the “Hope for Hollie” Campaign, aiming to raise awareness of this devastating disease, plus much needed funds for research, that may give Hollie and other children like her, the opportunity of a longer, and better quality, life. The Campaign supports the work of the Niemann-Pick Disease Group (UK) and has been extremely successful so far, receiving an overwhelming and generous response from the local Milton Keynes community.

As a small charity, the NPDG (UK) relies solely on membership fees, voluntary donations, fundraising events and charitable grants for its income. We fund the salary of a full time Clinical Nurse Specialist, providing expert care and practical advice, plus home visits whenever necessary. The Group has recently employed a Families Officer who will offer an individual advocacy service providing non-clinical advice, information and support via face-to –face meetings, the telephone, email and in writing.

Since launching the “Hope for Hollie” Campaign, Helen and Pete have raised over £100,000 in support of the NPDG (UK) – helping us to provide support to families affected by this devastating disease. It took doctors two years to finally diagnose Hollie's condition, two very distressing anxious years. The “Hope for Hollie” Campaign, along with the NPDG (UK), aims to reduce the time it takes to reach a diagnosis by raising awareness of the signs and symptoms of NP-C amongst health professionals, hopefully improving care for families in the future.

The NPDG (UK) provides care, support and information, deals with emotional, as well as practical issues, and has developed a strong family support network, helping to reduce feelings of isolation and despair. We hold an Annual Family Conference, bringing families together, enabling them to share their thoughts, experiences and tips for daily living – something Helen has found very useful. We have also introduced an annual interactive workshop for professionals; this event aims to bring together scientists, researchers, clinicians and other health and social care professionals with an interest in this group of diseases. Over the course of the day, delegates are given the opportunity to share current information regarding all aspects of Niemann-Pick diseases, including clinical management, research and potential therapies.

Apart from Pete and Helen’s contributions to funding, awareness and support, Helen Carter has joined the Niemann-Pick Disease Group (UK) Board of Trustees, underpinning her commitment to supporting other affected families. Helen’s role within the Board is Parent Advocate; she is able to provide a platform for families to voice their ideas and suggestions, all of which help to shape the future direction of the Charity.

An important part of the Group’s work is to actively support and facilitate research that will lead to an improved understanding of this group of diseases. A portion of the funds raised by Helen and Pete’s Campaign has been used to set up the “Hope for Hollie Travel Fund”, which assists families in accessing research studies in the USA.

Together, through their extensive media campaign, the Carter family has helped to raise the profile of Niemann-Pick Type C Disease, and to highlight the impact it can have on families and society, in many different ways. The NPDG (UK) is very grateful for the continuing support of the “Hope for Hollie” Campaign – giving hope and encouragement to all those affected by Niemann-Pick Disease Type C.

Toni Mathieson
Executive Director
Niemann-Pick Disease Group (UK)

niemann-pick@zetnet.co.uk