Misdiagnosis and non-diagnosis are two of the main hurdles to improving quality of life for thousands of rare disease patients. In particular, early detection of very rare diseases in children is of key importance and can reduce the progression and risks associated with these diseases. At Shire, we pursue opportunities on behalf of patients and families facing such rare diseases as Fabry disease, Hunter syndrome, Gaucher disease, hereditary angioedema (HAE), Duchenne Muscular Dystrophy and Sanfillipo A + B -- patients whose lives often hinge on the discovery and delivery of treatments.
With decades of experience and knowledge of the challenges faced by patients with rare diseases, we feel a responsibility to share this expertise. Knowledge and information play key roles in empowering patients and their families, all of whom should have the right to access high-quality information about diseases, treatment and care. Healthcare professionals, hospitals, patient organizations, policymakers, payors and companies such as Shire all have important roles to play in sharing reliable information that contributes to the understanding of diseases, treatments and enhanced health outcomes.
We do this in many ways – for example, working with the clinical community to evaluate different screening methodologies to support faster detection of these diseases, and with policymakers to expand newborn screening policies to include rare diseases. We also undertake disease awareness campaigns developed for medical professionals, patients and their families to encourage proper and early diagnosis and effective treatment.
Reflecting on 2012
- Received the first ever EURORDIS Company Award for exemplary work in Rare Diseases at the inaugural Gala dinner in February 2012 – World Rare Disease Day. This award is designed to reward outstanding accomplishments of pioneering companies developing treatments for rare diseases. It is given to organisations that work closely with patient groups and strive to provide access to their products across Europe.
- Supported Gaucher Awareness Month in the US. The main event was a ‘Go for Gaucher’ 5k walk/run in Mason Hill Park, Atlanta, which Shire employees volunteered at, and took part in.
- Almost 50 Shire employees ran in the Boston Marathon promoting Gaucher awareness.
- Sponsored the first annual HAE Day that raised global awareness of hereditary angioedema
- Supported the launch of an educational Facebook page in conjunction with HAE Day supporting HAE awareness and pledging support to the U.S. Hereditary Angioedema Association
- Sponsored two regional patient meetings in Canada with the National Gaucher Foundation and a National Forum on the updated Gaucher Guidelines.
- Prepared and published an article in a hematology journal supplement in conjunction with Dr Hughes on the signs and symptoms of Gaucher disease.
- Partnered with the Blue Wave project in Brazil, an independent team who conducted face to face visits with paediatricians, in order to provide them with educational materials on Hunter syndrome.
- Hosted round table meetings in Brazil, Turkey and Russia which were small meetings with a group of physicians, led by specialists from the area, focused on Hunter syndrome or MPS in general with the aim of creating awareness and promoting expertise.
- Established screening programs for Hunter syndrome through 17 different screening projects, to try and identify how best to find these children who are suffering from the disease as early as possible
- Partnered with the non for profit association, Positive Exposure (www.positiveexposure.org), to conduct Hunter In Focus, showing the beauty of people with rare diseases. The project was run in three countries in 2012: the US, Germany and Poland.
- Shire Argentina, along with the Enhue Foundation, trained physicians from Argentina and the Southern Cone in the identification and treatment of MPS diseases. The training involved rotations through 3 key Lysosomal Storage Disorder centres in Buenos Aires (Hospital Austral, Hospital Posadas, and Diagnosis Laboratory DIEL) that featured theoretical and practical input, interactions with patients and parents, diagnostic testing, and pharmaceuticals intervention. The training of 12 physicians will help spread awareness of this disease in Argentina and the Southern Cone, helping to create multidisciplinary teams in the physicians’ local hospitals and medical centres.
Commitments for 2013
- Continue to support several international patient meetings designed to bring expert physicians together with patients and their families to share experiences and to learn about developments in the management of rare diseases during
- Actively support Rare Disease Day and help to raise awareness of rare diseases and the issues that rare disease patients and their families and carers face.
- Continue work with and support patient organisations in their goal to provide lifelong support for patients and their families.
- Continue support of the World Orphan Drug Congress 2013 to bring together leading pharma and biotech executives to strategize about the opportunities and challenges in commercializing treatments for rare diseases.
Rare Disease Index Report
After decades of investment and research, it’s encouraging to see the immense progress that’s been made in understanding and treating rare diseases. But here’s a fundamental truth: there’s still an urgent need to fully grasp the unique set of challenges facing patients, their families and the medical professionals involved when it comes to rare diseases.
For those living with Hunter syndrome, access to information and support can be a real problem. Now a new program—Easier Together—aims to connect patients with these vital resources, no matter where they are.