We aim to post regular blogs about what we are doing as well as experiences and stories from colleagues and people living with rare diseases.
If you are interested in writing one for us, please get in touch.
My youngest son, Trystan is 36 years old and lives at home with his dad and me. When he was only eight months of age, he was diagnosed with Tuberous Sclerosis Complex (TSC). Our hopes and dreams for him were instantly shattered. His care needs are 24/7, our lives entwined. The fine line between being parents and his carers, blurred.
Tuberous Sclerosis Complex (TSC) is a genetic condition that can lead to growths in various organs of the body, most commonly affected are the brain, eyes, heart, kidneys, skin and lungs. The impact of TSC varies considerably.
On diagnosis in 1987, we were told Trystan had multiple brain tumours, far too many to operate on. We were also told that there was nothing that could be done.
We never forget those early days, the almost tangible fear of the unknown and all the 'what ifs'. The total lack of control over outcomes was overwhelming. Three decades on, it still can be. Adjusting to live our lives one day at a time hasn't been easy, but mostly has held us in good stead. We have become practiced thankfully in learning to make the most of the good and uneventful periods.
TSC manifestations may or may not be degenerative and there can be lifelong implications. For Trystan, like many others TSC means brain, heart, kidney and skin involvement. The first manifestation of TSC were the seizures; he has intractable epilepsy and a number of different seizure types. Over the years he has acquired multiple additional diagnosis including autism, intellectual disability, dysphagia and osteoporosis. He has hypertension and communication difficulties.
The complex mix of all the health related issues are compounded by TSC associated neuropsychiatric disorders. In addition the concoction of required medications and Trystan's limited verbal skills means we are often second guessing interpretation of behaviours and potential underlying health issues. Trying to ensure that we do not miss any signs of root cause of issues and the unpredictability of seizures has left me hyper vigilant.
Each month 10 babies are born in the UK with Tuberous Sclerosis Complex. An estimated:
The diagnosis of a rare disease such as TSC is a sharp learning curve, especially when there is no known family history. Remarkable scientific developments over the last three decades, has made that leaning a continuous one.
There was little understanding of TSC in the 80's. Thankfully the Tuberous Sclerosis Association (TSA) had already been established 10 years earlier and had some basic fact sheets; we went armed with these to all appointments. Engagements with professionals who showed interest in learning more to help us support Trystan were appreciated.
Patients and their carers want, above all, to meet a health professional who has met someone with their condition before, who can talk about the condition and identify if something unusual is happening and to guide on treatment and support. There is a need for better mapping and signposting of existing services such as the TSC specialist clinics and to help find a clinician who has relevant special interests.
The genes that can cause TSC were identified in 1993 (TSC 2) and in 1997 (TSC 1). Work then began on molecular genetic testing and once the mechanism of the disease in TSC was clear, the research re-emerged very quickly into a clinical domain with clinic trials.
Keeping updated and informed is fundamental to be able to best advocate. Volunteering for the TSA and a number of other organisations, all associated with Trystan's conditions, has given us valuable insight and understanding. We have also gained life long support and friendships from others on this Rare Disease journey.
With timely and appropriate medical care most TSC individuals will have a normal lifespan. However a number of life limiting complications can develop, such as fast growing kidney AMLs.
Trystan has multiple TSC Kidney AMLs, one of which is 26cms and a cause for concern. In 2011, this kidney AML was fast growing. Trystan was denied NHS access to the only emerging life saving treatment option available. His consultants secured a compassionate supply, direct from the drug company. Trystan was able to access this compassionate supply for six years, prior to his first NHS Wales prescription in January 2017.
This drug, Everolimus has undoubtedly been life-saving for Trystan. Access to Everolimus treatment for different TSC manifestations remains an issue, a postcode lottery for TSC individuals across the UK. Campaigns for access for all that need Everolimus and other emerging TSC treatments are ongoing. As TSC Research progresses, the task ahead is to ensure all who need access to emerging treatments receive them in a timely manner and have the best possible healthcare options.
Many like Trystan who have TSC manifestations of intractable epilepsy, intellectual disability and autism, will be at an increased risk of preventable premature death. Specialist services are vital to ensure these risks are flagged and managed according to current best practice and to avoid unnecessary hospital admissions.
When seeking emerging treatments or services to meet identified needs, we have often been told 'you are the first to ask/need'. The words are now associated with a heart-sinking 'here we go again' feeling. We know full well the related long delays, the often frustrating meetings and debates with service or funding key holders and of the need to scrutinize research outcomes and statue, policy and procedures to gather the evidence needed to secure best possible outcomes. The campaigns to secure improved outcomes seemingly never ending!
There is no cure for Tuberous Sclerosis Complex. There is, however, a range of treatments for many of the problems caused by the condition. Research has found that an mTOR inhibitor, which interrupts the chemical reactions needed for tumours to grow, may be beneficial treatment for TSC. Individuals with TSC will also need to have regular tests to monitor the function of the organs that can be affected by the condition.
To enable us to best care for Trystan, we rely on the support of others. As TSC is a multisystem disorder, numerous health and social care professionals are involved, along with a small team of support workers who come into our home.
We live our lives under constant scrutiny of others.
My ability to care is hampered when access to our support networks or specialist care is curtailed or withdrawn. Delays in access to services or treatments, further restricts my capacity to care to the best of my ability.
For Trystan to be able to live his best life, we are dependent on the decisions made by statutory services, by people who mostly do not know him. This is the case for many with a rare disorder.
To enable best possible outcomes for all rare disease patients, there is a need to make education, social and healthcare pathways and signposting clearer. Holistic approaches for all rare disease patients that focus on enhancing day-to-day experiences together with speedier access to emerging life-saving, life-enhancing treatments should be fundamental. Opportunities to take part in research projects should be part of the care plan for all with a rare disease.
There should be greater emphasis on outcomes with enhanced processes from laboratory research to treatments becoming available to all who need them. Too many are denied access to appropriate support and resources to meet their needs, falling between funding stools or the set criteria of different statutory services.
Along with many others in the rare disease community, I welcome the focus on the four key priorities identified in the UK Rare Disease Framework of 2021. These priorities are the major challenges highlighted by the rare disease community. Whilst individually our conditions are rare, collectively they are common; we have a united voice calling for change.
Improvement in these four areas of speedier diagnosis, increasing awareness of rare diseases amongst healthcare professionals, better co-ordination of care and improving access to specialist care treatment and drugs will be crucial to the commitment to improve the lives of rare disease individuals and that of families like mine, living with loved ones who have a rare disease.
I’d like to use the opportunity to write this blog to introduce myself and describe my experience of working with as the Rare Disease Implementation Group (RDIG) Coordinator.
As you can see from the section introducing the core team, my name is Rhiannon Edwards. I joined RDIG in April 2022, and at the same time took on the dual role as the Neurological Conditions Implementation Group coordinator. I am a specialist nurse by background, but in cardiology, so my experience with those with Rare Diseases was limited, although I did specialise in a genetic condition for many years.
Taking on the role of a coordinator of an implementation group was a huge challenge for me and the first time I haven’t worked in a clinical capacity in my career. Previously and for 6 years I did however work for the British Heart Foundation as a cardiovascular disease clinical development coordinator. This role enabled me to engage and support clinical teams and health boards across Wales to look at managing care and services differently and I felt many of my skills for this role was transferrable and led to me being successful in this role. I have loved the new opportunity to engage in conversations and promote new ways of working across Wales to support those affected by Rare Diseases. The launch of the Rare Disease Action Plan was a brilliant way to have a framework to improve care in Wales, focusing on diagnosis, raising awareness, enhancing coordination of care and access to specialist treatments and therapies in Wales. In only 8 months, we have seen significant progress against these priorities, with more genomic tests being carried out, increased awareness activities being delivered and a renewed focus on Rare Diseases at a local Health board level. The Syndrome Without A Name (SWAN) clinic has been highlighted as a first in the United Kingdom, which means Wales are leading the way in many aspects of clinical care in Rare Diseases. It’s exciting to be involved with meetings explaining how with passion and enthusiasm, clinicians are starting to work together in Wales, nationally and internationally to share learning and impact on the delivery of care.
In RDIG, I have been particularly grateful for the support we get from our colleagues in the Wales Genetic Alliance, SWAN UK – Cymru and the Wales Gene Park. These organisations, as well as the Genomic Partnership Wales, have enabled the voice of those affected by Rare Diseases to be central to our conversations and developments across Wales, and ensure we are always keeping patients central to our objectives.
I am excited to see what 2023 brings for our group, and we hope that you will soon start to see our achievements translate in your everyday contacts with your healthcare providers and community support agencies.
Launch of SWAN (Syndrome Without A Name) clinic
Individually, they may be uncommon, but rare diseases affect one in 17 people in Wales. This equates to 175,000 people, or – putting it into perspective – the entire population of Wrexham, Barry and Llanelli combined. Often, those with rare diseases and their families and carers find themselves on a ‘diagnostic odyssey’ and many feel lost.
In working to address the top priorities of the UK Rare Disease Framework, the Welsh government has commissioned a two-year pilot programme to establish SWAN clinics. These will be provided by Cardiff and Vale University Health Board and will work using genetic and other diagnostic approaches and where possible to direct this information to improve treatment. The team will also include a nursing care coordinator to aim help patients navigate the often multiple health professionals needed for their care.
There are both adult and paediatric SWAN clinics. The adult SWAN clinic is led by Professor Stephen Jolles and Dr Ian Tully (Consultant Medical Genetics, All Wales Medical Genomics Service) and the paediatric SWAN by Dr Jennifer Evans and Dr Jennifer Gardner. The Adult SWAN clinic is inviting referrals of adults who have the involvement of two or more systems from the following list: cardiology, respiratory, gastroenterology/hepatology, metabolic, endocrinology, nephrology, haematology, rheumatology, immunology, dermatology, growth disturbance, mental health or other; and who are suspected of having a unifying underlying diagnosis. Patients and their families should be informed of the referral, and the patient will remain in the care of the referring lead clinician.
The goal is to shorten the diagnostic odyssey, improve coordination of care and access to specialist care and increase rare disease awareness among healthcare professionals.