HD in Europe
Europe has been highly significant to the history and study of HD. The greatest frequencies of HD are found in Europe and among populations of European descent. Most scholars believe that European migration was what brought HD alleles into the continents of North America, South America, Australia and New Zealand, and the prevalence of HD in these regions is now similar to that of Europe, where HD affects around 40-100 per million people.
The prevalence of HD is generally uniform across the European continent (with the exception of Finland). Recent studies suggest that multiple, separate mutations in Europe are the most probable explanation for its even geographic distribution of HD. Such recurring mutations may also be necessary to maintain the prevalence of HD in Europe at its relatively high level.
United Kingdom ^
Huntington’s Disease (HD) prevalence in the U.K. is considered fairly representative of HD prevalence in Europe: it is both high and relatively uniform, with no apparent correlation between HD and ethnic or national origin. Studies in the 1980s and 1990s found a prevalence of 76.1 per/million people in Wales, 99.4 per/million in the Grampian region of NW Scotland, 54 per/million people in Northern Ireland, and 67 per/million people in England. However, in 2010, an analysis in the Lancet determined that past studies had considerably under-estimated the prevalence of HD. Research carried out in 2012 corroborated this analysis, concluding that the true prevalence of HD in the U.K. is at least double the accepted figures, and is closer to 120 cases per million people.
The U.K. is the hereditary origin of many of the first cases that were identified as HD. Scholars have traced thousands of prominent cases of HD in New England back to a few families that emigrated in the seventeenth century from Suffolk in England, a town only fifty miles away from the ancestral home of George Huntington himself.
Since HD rates in the U.K. are generally uniform, with no single hot spot, many scholars believe that there is no single origin of HD on the islands. In Britain, like the rest of Europe, the high and uniform prevalence of HD was probably sustained by multiple, recurring mutations.
Growth in public awareness
Over the past few years, public awareness has increased in the U.K. about the stigma associated with mental illness in general, and HD in particular. In 2010 Professor Michael Rawlins wrote in the medical journal Lancet that because of the stigma associated with the disease, HD is under-reported, under-researched, and under-estimated. In the U.K., this stigma is not only cultural but also legal: the insurance industry in the U.K. discriminates against HD patients as a matter of policy, for companies have been authorized by the government’s Genetics and Insurance committee to require people to disclose HD predictive test results if they apply for life insurance over £500000. Huntington’s disease is the only disease that is exempt from the total ban on disclosure.
Rawlins explained that the true prevalence of HD in the U.K. is in reality much greater than the accepted rate of 6.7 per/ 100,000 people. Pointing to the 6702 members of the Huntington’s Disease Association (HDA) of England and Wales, who were all referred and diagnosed by specialists, he calculated that the prevalence must be at least twice as high (12.4 per/ 100,000 people). Since this is a conservative estimate, which only includes people in contact with the HDA, he concluded that the true prevalence of HD in the U.K. must be even higher.
Rawlins’ conclusions were widely reported by U.K. publications, and signs of rising public concern pressured the U.K. government to launch an All Party Parliamentary Group devoted to HD, and in 2012, further research carried out in the U.K. confirmed that the prevalence of HD across the islands is at least 12 cases per/100,000 people.
In Scotland, there has also been growing concern about the rapid increase of people affected by the disease. Last year the Scottish Huntington’s Association (SHA). reported a 55% rise in new referrals, from 709 in 2012, to 1,103 in 2014, which has been putting a scary strain on their resources. The SHA called for a national action plan and hopes to work with the Scottish government to implement the first national care pathway for HD.
Ongoing threats to care
Although H.D. advocacy has made gains in the U.K. in recent years, there are still insufficient resources being allocated towards training providers and caring for people who are affected. A local audit has shown that NHS practitioners in the U.K. recognize the need for greater education about HD, in particular the mental health symptoms associated with the disease. The SHA exposed a funding bias in access to health and social care services for patients with neurological disorders, including H.D. and Parkinson’s; the government spends an average of £7,500 on the treatment and care of a Scottish H.D. patients each year, compared to over £30,000 for cancer patients. HD services in Northern Ireland are particularly overwhelmed and underserved; as of 2014, there were no dedicated specialist nurses in place to care for HD patients.
Since the eighties, and particularly in the years since the 2008-9 economic crisis, overall funding for healthcare and disability benefits has been slashed by the U.K. government’s austerity policies, and people with medical conditions, including HD, are losing access to the treatment and benefits that they need. Charities like the SHA, which formed in response to the dearth of services, and try to support HD patients who have lost their incomes and benefits – also face tightened budgets.
A. Huntington’s Disease Association of England and Wales (HDA)
The HDA helps support people affected by HD in England and Wales. Founded in Liverpool in 1986, the HDA has set up a regional care advisory service, as well as multidisciplinary clinics for HD patients, contributed to 2010 research on the prevalence of HD, and helped launch the All Party Parliamentary group in U.K. Parliament. They also provide many helpful resources and factsheets on their website. HDA is part of the UK HD Alliance, along with the SHA and HD Association of Northern Ireland.
B. Scottish Huntington’s Association (SHA)
The SHA helps people touched by HD in Scotland, including creating nine specialist HD services, offering grants, and helping connect families to public services and benefits. Last year the SHA developed the first HD care qualification, a course created in collaboration with the University of Stirling. Recently they have been working with the Scottish government to try to implement the first national care pathway for HD.
C. UKHDN: The UKHDN was one of the founder groups of the European Huntington Disease Network, and works with other clinical HD networks such as the Network of European CNS Transplantation and Restoration (NECTAR). The UKHDN hosts forums for discussion of scientific findings and ethical considerations around HD research and management. Members advise and train clinicians in how to implement the Unified HD Rating Scale, and have facilitated the implementation of NHS HD Management clinics in areas with no pre-existing service.
By Will St. Amant
Huntington’s disease (HD) takes a unique form in France. France has a reduced prevalence of 3 to 7 people in 100,000 compared to 10 in 100,000 people in the United States. Because of the small population in France, less than 2,000 people are diagnosed with HD, which makes a much smaller affected group than in the United States. This low prevalence makes it difficult for France to focus its efforts in either research or treatment of HD. On the other hand, France has what many consider to be the best healthcare system in the world, with its government subsidizing the majority of patient care through taxes on employers. Similarly, efforts for treatment and finding a cure for HD and other rare disease are centralized in a “reference center”, the teaching hospital Henri Mondor.
Insurance and Treatment ^
All citizens of France are required to subscribe to the national health insurance plan, which is funded from the revenue of the social security tax on workers and an even larger portion is paid through contributions from employers. Many people also purchase supplemental private insurance to cover dental, dermatological, optometric, and other specialized care. The French National Health Service generally refunds patients about 75% of their total healthcare costs. Despite this aid, healthcare can still be a great financial burden for patients with chronic conditions such as HD. HD falls within the long-term illness coverage plan known as the list of Afflictions of Long Duration (ALD30), which covers 100% of the costs of treatment for 30 chronic diseases or disease categories. Initially, the ALD30 plan was a purely a financial plan, but now following major reforms to the healthcare policy in 2004, the plan encompasses a treatment plan known as a “care pathway” for each of the 30 disease categories. The reform to the French healthcare system refocused treatment on the general practitioner who then refers patients to specialized doctors, such as neurologists for HD patients. The National Health Service will not fully subsidize patients who seek a specialist without consulting a general practitioner. In this way HD patients have a primary care physician in charge of their health from the start.
The care pathway for HD falls under category 9 of the ALD30, “severe forms of neurological or muscular conditions”. In the past ten years, this system in which the general practitioner acts as a gatekeeper to other practices has strengthened the bond between hospitals and specialized services, medical or otherwise. HD patients can receive advanced neurological and medical treatment, along with other non-medical services that are of use to HD patients such as: psychological, social, and genetic counseling. In a conversation with Dr. Jean Marie Fessler, president of a collection of 33 public health and medical establishments known as MGEM in France, he said that France’s resources for those with HD are “the best, but without doubt not sufficient”, noting that departmental homes, psychiatric care, and hospice care are all under the umbrella of fully subsidized care for those with incurable diseases.
While the guidelines for physicians and the care pathway for HD patients are sufficient, there is sometimes a disconnection between theory and practice. Because of a lack of patient education and community resources, care can be fragmented, and there is still no great incentive for the general practitioner to follow-up with the patient even though the infrastructure and resources are in place. Research also lags behind in France, even though the reference center for HD has a cohort of patients and runs clinical trials. Funding for research is a fraction of the funding put towards HD in the United States. This is due to France having a smaller affected population, smaller GDP, and less available funding overall.
A proactive HD patient can reap great benefits in healthcare in France. The burden is not financial so much as it is self-education and a commitment to seeking the many medical and social services. For a disease without a cure, the subsidized therapeutic treatment, counseling, and end-of-life care puts France among the leaders in the treatment of Huntington’s disease around the world.
The Global HD research and articles received partial support from the Bingham Fund for Innovation in the Program in Human Biology.
Further Reading: ^
For an extensive overview of France’s management of chronic diseases, read Chapter 4 of the European Observatory’s Study Series.