IMPROVING ACCESS TO CARE
As rare diseases, muscle glycogen storage diseases are often diagnosed by clinicians who have not seen the condition before, or perhaps have only a few such patients. It is impossible for them to have a detailed understanding of the condition. Patients need to be referred on to larger centres of excellence with a multidisciplinary team and in-depth experience.
Undertaking the 12 minute walk test in clinic.
To see that all people diagnosed with a muscle glycogen storage disease are able to access a level of care which assists them to achieve their best possible quality of life.
We will work towards our goal by:
Raising awareness amongst patients and clinicians of the degree to which patients can improve their condition with appropriate care.
Leading the production of Clinical Practice Guidelines for all muscle GSDs through international consensus (see campaign 5).
Promoting the establishment of Centres of Excellence and encouraging patients to attend those centres, in order that they build in-depth expertise.
Promoting the use of multidisciplinary teams to support patients with topics beyond the neuromuscular, including specialist nurse, physical therapist, dietician and psychologist.
Provide online and printed resources to support all the above.
Maintaining an on-line international directory of clinicians with expertise in muscle GSDs.
Continuum of care model.
We have used videos on our YouTube channel, personal stories on our website, and many posts on social media, to raise awareness of the incredible levels to which McArdle people can improve their physical condition and reduce their symptoms.
The publication of the Clinical Practice Guidelines and the Continuum of Care Model, both led by IamGSD, we expect will raise awareness amongst medical professionals of the need for access to care in the long-term.
Through correspondence and social media we endeavour to direct patients to expert centres in each country, wherever possible. This is not just for the benefit of the patient, but also to build the currency, experience and expertise of the specialist centers.
By building the number of people referred to each centre, we hope to support the establishment of multidisciplinary teams, including neuromuscular specialist clinician, specialist nurse, exercise physiologist, physiotherapist, dietician, and psychologist.
We provide copies of our publications to all such centres upon request, for their own use and for distribution to patients.
We continue to maintain and expand the international Directory of Clinicians on our website.
Gene therapy techniques may be developed to the point where they can fairly quickly be applied to many genetic conditions. This will then reduce the need for access to expert care. However, we are expecting that the most rare of the muscle GSDs will wait many years for such therapies, and we would wish to promote access to expert care until that time.