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In this week’s blog, David Bennett – a member of our Empowerment Advisory Committee – explores the early stages involved in setting up a patient group for a rare disease. His blog includes interviews with parents who have set up groups for rare conditions affecting their child or children.

Many of you are likely to have had your world turned upside down as a result of receiving a diagnosis of a serious condition affecting you or a family member.  With an increasing number of rare genetic conditions being identified, the person diagnosed is often a child.

A natural demand for parents is to understand what the diagnosis means in practical terms, which treatments are available and their likelihood of success. Particularly in the case of rare disorders, high quality authoritative guidance and information can be hard to find. Patient organisations dedicated to helping families affected by rare paediatric disorders continue to be set up. This short article is aimed at individuals and groups at an early stage in their development and is based on interviews with some remarkable people who have built effective patient societies.

Motivation to establish a support group

Motives of founders vary. The driver for Jayne Hughes, who established Amy and Friends after her daughter, Amy, was diagnosed with Cockayne syndrome is familiar: ‘with rare conditions, those affected can feel isolated, often diagnosis has been difficult and delayed. We set up Amy and Friends in 2007 to help other parents of a child with Cockayne avoid the problems we had to overcome’.

Going under the umbrella of an existing patient support group is a consideration, but often the needs of individuals with a specific condition require a dedicated group. For Diana Perry, setting up the Ectodermal Dysplasia Society was necessary because ‘the symptoms of ED are so diverse that no existing group adequately covered the range of symptoms that children with ED can display’.

Getting started

Founders of patient groups approach the task with a widely different background experience and resources, so that the main hurdles they face vary. An important factor is whether the individual themself has the medical disorder as this can dictate the time and energy available. Arlene Smyth, Executive Officer of the Turner Syndrome Support Society (TSSS) whose daughter is affected by TS counsels that ‘setting up and running a society can be stressful’. In any case, ‘it’s important to form a committee at the outset, including a Chair, vice Chair, Secretary and Treasurer. Such a core management group is not only part of good practice, especially if charity status is to be sought, but, together with regional volunteers, the existence of a team helps to spread the workload’.

Setting goals

The goals of a group can change over time. Although initially set up with a focus on children with Cockayne syndrome, Jayne Hughes explains: ‘later it became clear that siblings of the affected child could become traumatised and their mental health frequently be affected. Of course, this phenomenon is not limited to families affected by CS’.

For members also, the needs met by a group evolve. According to Julie Atkinson, a member of the Ectodermal Dysplasia Society (ED Society),: ‘when my son, Daniel, was eventually diagnosed with ED we benefited so much from the information pack, newsletters and ability to connect with other parents. Later, advice from the ED Society, for example, on Disability Living Allowance, has been tremendously helpful’.

Deborah Mann is currently interim secretary and research co-ordinator of the Organisation for Anti-Convulsant Syndrome (OACS Charity), however, she originally joined a forerunner of OACS Charity as a member. Fetal Anti-Convulsant syndrome is a complex condition affecting children born to mothers taking anti-convulsant medications, notably sodium valproate. Deborah became more involved in the work of OACS Charity: ‘I realised that when highly motivated members come together we can achieve real empowerment. OACS Charity supports families to help them overcome difficulties that my family has faced, but we also represent our members in advising  the MHRA (UK Medicines and Healthcare Regulator Agency) on the use and monitoring of sodium valproate so that a disabling medical disorder can be avoided’.

Beyond the goal of offering support to individual families, a group’s objectives can soon extend to raising awareness of the medical profession to the condition in question, notably to aid a prompt diagnosis. Although the medical community can be slow to reach a diagnosis of a rare condition, those working for the patient society should work with the healthcare professionals. Diana Perry notes that ‘it’s vital to engage constructively with specialists and show that the patient group is a partner, not an adversary. We want clinicians and nurses to direct patients to the ED Society so that we can help them access non-medical support that would improve quality of life of families affected’.

Within the overall purpose set by the group, the activities can rapidly multiply beyond any realistic capacity. Arlene Smyth’s advice is: ‘pick your battles and work with other organisations to be more effective’. To influence top level healthcare policy the TSSS works with the Genetics Alliance UK as well as relevant medical societies.

A long-term dream of support groups is the development of a new treatment for the condition or even a cure. Groups can help investigators, including those working in research-based pharmaceutical industry, with clinical trials, including the recruitment of patients, which is a common obstacle in rare disease research.

Helping hands

Successful founders have been able to draw upon an increasing number of sources of advice and support. For Diana Perry: ‘the ED support organisation in the US (NFED), which has been running for over 30 years, was very helpful at the outset’. In the past, making contact with families affected by a rare condition has limited the reach of a dedicated support group. When Jayne Hughes set up Amy and Friends in 2007, ‘social media as we know it today was just becoming part of our lives and this medium has been hugely helpful in communicating with families who can benefit from our support.’

And, finally

The list of considerations when starting a patient support group can seem daunting:

  • Defining objectives
  • Registering as a charity
  • Charging a subscription
  • Forming a medical advisory board
  • Protecting members’ personal data

On the positive side, there has never been a better time in terms of the wealth of best practice examples to follow and support organisations. Findacure has a strong commitment to empowering patient groups in a variety of ways to suit individual needs: training workshops, webinars, peer mentoring and a growing wealth of materials accessed via their online portal. In addition, many patient societies have benefited from some of the organisations listed at the end of this article.

Arlene Smyth, TSSS, speaks for many when she says that ‘it’s been hard work, but I believe we’ve made a difference to people’s lives and for that reason, if I had my life again, I wouldn’t change a thing’.

Sources of support

We would like to thank David for writing this blog. If you would like to find out more or follow-up with David, you can contact him via [email protected].

Patient Support Group – In the beginning

by Guest Contributer time to read: 5 min