AGSD-UK Specialist Care Advisor Jane Lewthwaite speaks to HEQ about the importance of community and advocacy for patients living with glycogen storage disease.
The Association for Glycogen Storage Disease (AGSD-UK) was formed to provide a UK-wide resource of information and support for people living with glycogen storage disease (GSD) and their families, driving positive change and helping patients to lead full, productive lives. AGSD-UK Specialist Care Advisor Jane Lewthwaite speaks to HEQ about the burden and treatment of GSD.
What are the key goals of AGSD-UK?
AGSD-UK aims to help people affected by GSDs and their families in a number of ways, including:
- Acting as a family point of contact and support group;
- Providing personalised responses to help individuals optimise their wellbeing while living with a GSD;
- Providing information on request by phone and/or email;
- Holding GSD-specific workshops;
- Conducting, promoting and supporting research and surveys into GSD;
- Publishing a periodic magazine for all stakeholders;
- Creating information and resource materials, which can be accessed through the AGSD-UK website at www.agsd.org.uk; and
- Hosting an annual two-day conference, attended by people with GSDs, their families and many medical professionals, laboratory scientists and researchers.
What are the benefits of bringing all GSDs together under a single advocacy umbrella?
All GSDs are ultra-rare, so there is strength in numbers if we work together. This enables us to capitalise on common areas – issues such as genomic testing and the time taken to get the correct diagnosis are relevant to all GSDs. Many specialists in GSDs work in the same fields, such as metabolic medicine, so by unifying under one umbrella we can communicate with healthcare providers, including our own Medical Advisory Board.
Patients living with GSDs sometimes report similar experiences: parents of babies and very young children with several different GSDs have to cope with very strict, life-or-death feeding regimens, so those parents have common needs and knowledge that they can share with each other. By sharing information between GSD communities, we can enable new developments and good practice in disease management to permeate throughout the universal patient community within the UK.
AGSD-UK is the only charity that supports all people with GSDs in the UK; and we have established international connections with other national charities supporting patients with GSDs in other countries. We aim to support the development of standard treatment protocols and guidelines in areas where there are regional differences; as well as to facilitate patient connections to pharmaceutical and industry bodies which need to gather patient data, conduct surveys, and collate endpoints and natural history studies prior to launching clinical trials.
What are the most common symptoms or indications of GSDs in infants and adults?
There are so many GSDs that it is very difficult or even impossible to make a sweeping statement about indications – perhaps the only symptom common to all GSDs is fatigue. As GSDs are characterised by metabolic problems in processing glycogen, changes to the diet are commonly needed; but the changes will vary between GSDs.
Infants with hepatic GSDs will present with issues such as liver problems; swollen belly; poor growth; hypoglycaemia; ketosis; fatigue; and neutropenia (an abnormally low concentration of neutrophil white blood cells, which means the body cannot fight off infection) leading to frequent infections. Infants with muscular GSDs may be ‘floppy’ and present with cardiac and respiratory issues, as well as frequent infections.
Hepatic GSDs in adults commonly result in severe fatigue; blood sugar problems, including hypoglycaemia; cirrhosis of the liver; and adenomas (benign tumours). Adults with muscle GSDs can experience poor mobility, muscle weakness and breathing issues; and in the case of GSD5, adult patients may produce dark urine.
The disease burden is great. Children with GSDs have multiple and urgent attendances at Accident and Emergency departments. Some have gastrostomy or percutaneous endoscopic gastrostomy (PEG) feeding tubes. Some will need to be put on ventilation support. Adults with GSD2 usually have non-invasive ventilation (NIV) support. Pompe disease (GSD2) is the only GSD which currently has a drug treatment, Myozyme, which is delivered by fortnightly lengthy infusion.
AGSD-UK campaigns for glycogen storage disease screening for all newborns in the UK. How can early diagnosis and intervention help?
Diagnosing GSDs early on can have a number of benefits for patients and their families. Early diagnosis can prevent the diseases from having a more serious impact, by enabling families to secure treatment and implement the requisite nutritional regimes earlier. Particularly in the case of muscle GSDs, early diagnosis and treatment can avert irreversible physical decline; and in some cases, especially with Pompe disease, catching the disease early can enable treatment which will substantially prolong the patient’s life.
Screening newborns for GSDs equips parents with crucial knowledge which can inform family planning for future pregnancies. Meanwhile, early screening enables better diagnosis and facilitates the gathering of prevalence data for medical service planning. Receiving a tested diagnosis early on is better than waiting for debilitating and dangerous symptoms to appear.
How important are patient support bodies for patients with rare diseases such as GSDs?
Patient support organisations are crucial for many reasons, and they take on a whole new level of meaning for patients with rare diseases. It is often the case that these patients have been on a very long diagnostic journey; and that changes a person – it frequently makes them more susceptible to mental health difficulties and they may have trouble adjusting to their diagnosis, but also on the more positive side, patients with rare diseases often become much greater advocates for themselves. There is a very strong sense of patient community. There are around 220 people in the UK living with Pompe disease, and they are a community; they will meet up together, come to conferences and create publications that you can see on our website. Because it is such a small group of people, a lot of people within the rare disease space – whether they are in the medical sector, the pharmaceutical industry, the charity sector or the patient community – are known to one another; and that can be a significant advantage in communication and advocacy.
Mentoring is really important. We have a Pompe disease support team, which has existed for a long time; and whenever a small group of people with Pompe – or any other rare condition – get together, they will start to exchange stories, knowledge and experience which may not have been shared before. One key example of this is gastrointestinal (GI) symptoms and Pompe disease. A number of our members found in conversation that they were all suffering from GI symptoms such as bowel and bladder urgency, irritable bowel syndrome or constipation as well; and once they discussed it among themselves and realised that they shared those symptoms, they were able to report it to their physicians as potential Pompe-related issues, rather than simply dietary problems. That is just one way in which these patient community groups have been able to shape the understanding of the symptoms and management of Pompe disease.
Specialist Care Advisor (Pompe disease)
Association for Glycogen Storage Disease