Rare diseases - is something so common really so rare?

By Stephen Robertson

11 August 2020

As diagnostic tools in medicine become ever increasingly numerous, complicated and diverse, it should be no surprise that the breadth and number of diagnoses seems to be swelling. 

An inevitable accompaniment of this is the numbers and types of disease states practitioners had never heard of in their formative years in training are cropping up with increasing frequency in clinical practice. It is as though new diagnostic tools like genomics are  peeling back familiar layers to reveal unsuspected complexity and heterogeneity lying beneath. Precision medicine is inexorably splitting what in the past was diligently lumped together, or worse, remained undiagnosed.

So, how should the primary care practitioner respond to being placed in a position of coordinating and overseeing the healthcare of individuals with conditions they have never heard of, let alone managed a case of previously? With rare disorders now recognised to be  common (around 6% of population have a condition that affects < 1 in 2000 people) what local resources can the GP turn to become informed and to link their patients with appropriate support?

 Petition of Sue Haldane for Rare Disorders NZ: Develop a National Rare Disorder Framework

"I try to imagine if, when Lizzie was diagnosed with a lifelong condition, there was a blueprint for coordinated family care. Of course, the person diagnosed should receive laser-like focus, but primary caregivers also need a strategic support plan and formalised care,"
Sue Haldane, Mum of Lizzie. Read Sue and Lizzie’s story.
 
Petition request

That the House of Representatives urge the Government to acknowledge the universal challenges faced by people living with a rare disease, and the unfairness within the current system, by committing to the development of a New Zealand National Rare Disorder Framework.View petition.

The first and most important step is to acknowledge the lack of information and the uncertainty. Pointing to perhaps the self-evident fact that their diagnosis is not only rare but probably also only recently recognised may put many patient expectations into useful perspective. It might sound glib, but it is a reality that we all are likely to be learning in parallel about their condition into the future. Specialised or privileged repositories of information are unlikely to exist. 

Some conditions have well organised support groups that bring families together to provide knowledge, support and a listening ear. While some are well-provisioned others are labours of love and truly have grown out of a vacuum - launched by heartland New Zealanders who have recognised a need and have moved to fill the gap. 

A challenge then becomes how to support and coordinate what will be an increasing number of such support groups as genomics expands and so-called precision medicine continues to deepen the diagnostic catalogue. In Aotearoa, it is Rare Disorders New Zealand that is the umbrella group for >140 support groups nationwide.  It helps individuals searching for appropriate supports and links with patient groups while getting behind the support groups and lobbying decision makers to provide adequate care for the 300,000 New Zealanders with a rare condition.

Even for those without a diagnosis RDNZ can put individuals and whanau in touch with groups such as parent-to-parent and SWAN (Syndromes Without A Name). For many they will efficiently and knowledgably link patients with support groups overseas. That step is key in lessening their isolation and sense of helplessness. For some people, even though they may have a diagnosis or condition that is refractory to diagnosis or is truly unique (chromosomal disorders are frequently in this category) the experience and challenges of living with such a condition can be similar.

Families and individuals often, quite naturally, will turn to social media and link with Facebook groups and the like for the same reason. They seek information, support and lived experience from others with their new diagnosis. While some caution is wise, it is generally my practice to validate such strategies. So commonly, families will aggregate, package and share information and observations with appropriate perspective more quickly and efficiently compared to conventional medical channels. Of course, the primary care team are important fact checkers, bring perspective from the local healthcare context and are invaluable as sounding boards. With appropriate checks and balances and an engaged GP, the reach and immediacy of social media can be transformative for families confronted with a rare diagnosis.

In an information-rich world, filters and perspective are key to making informed and supported decisions. For our patients, living with a rare condition in a sparsely populated country like NZ, the cohesion and value-add that organisations like RDNZ bring must be celebrated, supported and grown. Harnessing and nucleating the wisdom of the team of 300,000 could make an enormous difference to the all too common experience of living with something rare.

Stephen Robertson FRACP FRSNZ
Curekids Professor of Paediatric Genetics
University of Otago
Board member of Rare Disorders NZ