Abstract
This editorial discusses the development of a patient group for Alström Syndrome, a multi-system life-limiting ultra-rare disease. Kay Parkinson founded the charity following the delayed diagnosis of both of her children with the Alström Syndrome. The piece demonstrates the great expertise held by patient groups and is relevant to other patient organisations in search of medical support, funding sources and clinical options. It is a source of information and inspiration for other groups looking to collaborate to create a centre of excellence.
Alström Syndrome UK (AS UK) became aware of the possibility of NHS Commissioning following a talk by Alastair Kent at our Family Conference in 2005.
Alström Syndrome is a life-limiting disease, which in my two children’s case caused childhood blindness, hearing loss, heart failure, diabetes type two, kidney failure, bladder dysfunction and many associated problems. Matthew died aged 25 following heart transplant surgery in 2003 and Charlotte following heart and kidney transplantation in 2010 aged 29.
I founded AS UK charity in 1998 following the late diagnosis of my two children, Matthew was 18 and Charlotte was 15. They had years of misdiagnosis at my local hospital, before finally being asked to attend Great Ormond Street Hospital as a doctor was looking into their latest diagnosis. I had studied law at Exeter University as a mature student, primarily because I was having to fight so many issues for my children and fortunately also specialised in charity law.
I informed the consultant who made the diagnosis that I wanted to start a charity for the condition and she contacted 12 other families she knew with the condition and invited them to our first family conference in 1998. Seven families attended and it soon became clear that even those with a diagnosis were not having all aspects of the disease identified. The following year we invited physicians who were working with my own two children from Torbay Hospital to attend. Although we did not realise at the time, this was the beginnings of our multi-disciplinary clinics. In a hotel in Brixham, S Devon audiology tests took place in the bedrooms, families gathered round a cardiologist, an endocrinologist and dietician and ad hoc consultations took place wherever a spare room in the hotel could be found. The unmet needs of these families were clear as were the needs of the physicians to see more patients, gain more experience and learn more about the disease. AS UK united families to meet in one place and facilitated and funded this development through applications to grant making trusts. Our first grant was from Awards for All, shortly followed by a Jeans for Genes grant and a BBC Children in Need grant.
The family conference/clinic progressed on these lines for a number of years. As our numbers grew it became increasingly difficult for families to travel to Torbay and back in a weekend. I was already in touch with Birmingham Children’s Hospital and it was agreed that we could use their facilities at the weekend of our family conference. All was still on an ad hoc voluntary basis with doctors giving freely of their time at the weekends to examine our Alström patients and AS UK charity organising and funding the family conference and the clinic lists and developing a UK-wide database of affected patients. Our Web site www.alstrom.org.uk was key to diagnosed patients finding the support and expertise we could offer.
Following Alastair’s talk, Torbay Hospital, Birmingham Children’s Hospital and AS UK decided that we would apply for NHS Commissioning to fund the clinical service on a more professional basis. We were pleased we had developed the clinics as the NHS would only fund a clinic if it was already in place. In 2006, the NHS Commissioning Team for Highly Specialised Services agreed to fund four clinics for children at the Birmingham Children’s Hospital yearly and four adult clinics at Torbay Hospital. Two outreach clinics in Leeds were also arranged. However, the NHS said at that time that they did not fund charities.
Fortunately, my legal training equipped me with the skills to challenge this decision and I set about tracking the legal basis to do this. The COMPACT document signed by Tony Blair when Prime Minister laid out the principles of how the public sector should work with the voluntary sector. Reading the document it became clear that there were a number of breaches in our dealings with the NHS. The NCVO had COMPACT officers funded by the Big Lottery who took up our case. When the breaches were pointed out to the NHS Commissioners, AS UK was invited to meet with them. The outcome was that we were to be funded as equal partners with the two hospitals we worked with in delivering the Alström clinical service that we had initiated, funded and developed.
The NHS Commissioned clinics have gone from strength to strength since we started, our numbers have doubled since we incorporated an Asian Mentoring Scheme, the Alström gene has found to be present in a number of families in the Leeds, Bradford area. The addition of a NHS funded Asian mentoring worker proved very successful with in-roads being made into this often hard to reach community with the resultant doubling of numbers over a 3-year period. In 2012, we successfully moved the adult clinic from Torbay Hospital to the brand new state of art Queen Elizabeth Hospital in Birmingham. It had become clear that the needs of our adults could not be met at a district hospital, and although thankful to Torbay for their initial help with setting up the clinics it was time to move on. The Queen Elizabeth Hospital Birmingham is the largest hospital in Europe and their state-of-the-art services can offer transplantation of all major organs. Transplantation is often needed for Alström patients so to have clinics here with doctors familiar with our patients is a real privilege.
Peer-to-peer support is the backbone of the services AS UK provide, newly diagnosed families as well as attending the multi-disciplinary clinics are eager to talk with other mums or dads with affected children or adults and hear how they cope. Older patients know they have someone to turn to. Activity holidays have not only helped with an enjoyable way of weight control and exercise but also helped form friendships for patients who are often isolated. The clinics now also offer professionals from across the world the chance to meet and discuss developments.
On the back of the success of the clinics AS UK applied for and were successful in gaining a Big Lottery Medical and Scientific grant to develop research into the condition through taking skin samples from consenting patients and starting a research database. Cambridge University partnered with AS UK and were commissioned to generate pluripotent stem cells that will be differentiated into cell types. Birmingham and Torbay hospitals were commissioned to take the skin samples and develop a research database.
Six months prior to the completion of the grant when AS UK were expecting to be able to review the database, Torbay Hospital announced that AS UK could not have access to it for ethical reasons. As we were not NHS ‘employees’ it was unethical for us to have access and as our patient numbers were so small we would still be able to recognise anonymised data. The fact that we see un-anonymised patient information, as part of our role as a partner in the NHS England, National Specialised Commissioned Alström Clinical Service was ignored. The fact that we owned the database was ignored. This information announced at such a late date in the project put the grant and AS UK into jeopardy. If the Big Lottery were to call back in the grant, AS UK would be ruined. Our members had believed that when they consented to the database that AS UK would as owners of the database have access to it.
AS UK kept the Lottery closely informed of discussions and an emergency meeting was held between partners.
The outcome was thought to be that the database would move to the Queen Elizabeth Hospital, Birmingham and all patients will be re-consented to the database explicitly stating that they allow AS UK access. AS UK, will now add further consents to the form; allowing the data to be shared, with EU and International databases.
We have now had discussions with Doctors at Cambridge and Birmingham Children’s Hospital and another project EUWABB has ethics in place, which will cover the Big Lottery grant. All this has taken a great deal of time, which patients with life-limiting conditions can ill-afford – we do have a pharmaceutical firm interested in developing an anti-fibrosis treatment who have requested the samples – but at the time of writing they have not yet been sent.
In April 2014, the London School of Economics (LSE) MSc students, who as part of their degree had worked with AS UK, provided a report on a ‘Cost benefit analysis’ of multi-disciplinary clinics, (available in the annexe). This independent report has been hailed as much needed evidence of multi-disciplinary working for rare diseases. The report was produced as part of our Horizon 2020 bid, PHC 26 ‘Patient Empowerment through M health’. In this bid, we hope to extend our role model clinics ‘virtually’ to reach professionals working with Alström patient’s pan-European. Patients will be connected to medical devices, which will monitor their condition in ‘real’ time through M health applications. We are delighted that Orange Healthcare have partnered with us in this bid.
In June 2014, Torbay Hospital awarded me the Blue Shield Partnership Award for setting up the multi-disciplinary clinics and developing research into Alström Syndrome.
Alström Syndrome is an ultra-rare condition, the vast majority of patients have been found through the infrastructure and services that I have developed over the years. I instigated, pioneered and fought for the first Alström Syndrome multi-disciplinary clinics in the UK and started the first research through the Big Lottery grant. The multi-disciplinary clinics have now been used as a role model for both Bardet–Biedl syndrome and Wolfram Syndrome. A Ciliopathy Service has also been requested using this model. EURORDIS the European Patient Organisation awarded AS UK, Patient Organisation of the Year 2013 for outstanding services to Alström patients. This has led to the opportunity to speak at many conferences for Rare Diseases and Orphan drugs across the EU and USA on how the Alström Service has developed.
I hope the above information helps other groups be more prepared for issues that can arise when working with the NHS and help avoid some of the problems we encountered.
Patient groups have patient interests at heart – the solutions for rare diseases will only come by all parties to their care bringing down the barriers that prevent collaborative working.
With such a complex condition as Alström it is only the patient groups, families and patients who have lived with all the multiple manifestations of the disease and managed them on a daily basis. We cannot ‘lock out’ their valuable experience and expertise. Patient groups deserve and need better recognition.
My case study demonstrates how a mother effectively can drive services that are truly patient centred and the difference a correct diagnosis makes to affected individuals lives.
For further information on Alström Syndrome, including all symptoms, a downloadable medical handbook and medical papers visit www.alstrom.org.uk
Mathew Parkinson (9-2-1978 to 11-5-2003) and Charlotte Parkinson (11-4-1981 to 29-4-2010). The picture was taken in 1998 shortly after diagnosis by Great Ormond Street Hospital. We were flying to the USA – the only country at that time with any knowledge of the disease. Local press took the photo as we were about to depart.
Declaration of interest
The author is the Director and Founder of Alström Syndrome UK and has no other relevant affiliations or financial involvement with any organisation or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.