UK Gauchers Association: a foothold in national grassroots advocacy and a collaborative global perspective
We provide an advocacy service to all individuals living with Gaucher and their families, including access to education, support to social care, and other personal non-medical issues. We pride ourselves in circulating up-to-date information on medical research and possible new treatments through newsletters, meetings, and online webinars.
We work hard to collaborate with clinicians, other patient groups, NHS England, and the pharmaceutical companies, ensuring voices from the Gaucher community are always heard. The Gauchers Association is committed to provide access to the highest standard of clinical care, share trusted information on new and appropriate treatments, and to drive research into unmet needs and securing new services that our community needs.
Q. Does the subject of bone pain/crisis come up a lot amongst your community and how much of an unmet need is this?
The Gaucher community is very heterogeneous and despite treatment being around for the visceral aspects of the disease for 30 years, we are aware that bone crisis is still very much an issue for our community.
Pain is extremely hard to measure and explain; however, with an earlier diagnosis and access to treatment and excellent clinical management, many individuals may not experience the type of bone disease we saw before treatment.
This is sadly not the case for older patients diagnosed before the advent of treatment and for other patients that for unknown reasons have major bone involvement or develop multiple myeloma.
There are also the bone aspects of neuronopathic Gaucher disease, such as kyphosis, that are not yet understood but continue to have an impact on the community.
Kyphosis is curvature of the spine that causes the top of the back to appear more rounded than normal.
Although everyone will have some degree of curvature in their spine, a curve of more than 45 degrees is considered excessive.
Kyphosis can cause back pain and stiffness, tenderness of the spine, and tiredness.1
Q. Do you feel there is enough understanding of this topic for both the patient community and HCP’s?
Gaucher disease comes under highly specialised services within the NHS; therefore, our community is seen at specialist UK centres across the devolved nations. There is a high level of expertise in Gaucher disease and bone disease, and its management is included in the current clinical guidelines. In addition, in 2016, the Medical Research Council awarded a grant to The National Gaucherite Project for an on-going, wide-scale observational cohort study of Gaucher disease in the UK. To find out more about The National Gaucherite Project visit: https://www.gaucher.org.uk/gaucherite
The results from this study provide an insight into the UK Gaucher community bone issues and the data to drive further research to improve diagnostics and the quality of life of individuals with Gaucher through possible new treatments and supportive care. By promoting the research findings of the study, we intend to generate more awareness, continue highlighting the importance of early diagnosis, and explore more avenues for care and management in Gaucher to share with our community.
To read part 1 of this article 'The International Gaucher Alliance: a foothold in national grassroots advocacy and a collaborative global perspective', click the button below:
To continue learning about Gaucher disease and patient support you can read the following articles in this Digital Spotlight here:
1.NHS, Overview Kyphosis, (online), Available: https://www.nhs.uk/conditions/kyphosis/, 15th April 2021.
Rare Revolution Editor