Hugh Knows APS? Why we need to talk about rare autoimmune conditions

Sep 27, 2023

This week’s blog was written by Millie Fuller, she lives with the rare autoimmune condition, Antiphospholipid Syndrome (APS). 

Millie is also a freelance writer with expertise in health-related topics, her blog looks to raise awareness surrounding rare autoimmune conditions.

Autoimmune illnesses are a particularly challenging condition for clinicians to treat, as there’s often no clear underlying cause. Conditions can be co-morbid, sharing vague symptoms across multiple disorders.  Patients present with non-specific symptoms – general feeling of being unwell, aches, pains, headaches – meaning misdiagnosis, or a lack of any, is highly likely.

But when there’s a delayed diagnosis, or no diagnosis, it feels as if you’re in the purgatory of a healthcare system. You see multiple doctors, and they either misdiagnose you or discredit you. Not only is it upsetting and demeaning to the patient, but repeated visits aren’t cheap for the system.

Antiphospholipid Syndrome (APS) is a prime example of this. If a diagnosis is even made, it can take 5 years on average.

Photo of Josiah as a baby

Like many, I’d never even heard of APS. Haemophilia, sickle cell, cystic fibrosis? I knew of those. The most well-known of the rare diseases, this is where the media spotlight, and public interest, often falls. Of course, that’s not to say that addressing these disorders isn’t important.

More so that I was bewildered to find that something like this had happened to me. In the grand scheme of things, I was lucky. I got a diagnosis.

Many would argue that the big problem today is in diagnosis… and that would be true. Diagnosis is a gateway to treatment. Not only that, but for some, the day we learned of our diagnosis was a good day. 

Imagine having doctors, colleagues, even family and friends, look at you with doubt. Your exhaustion? A late night. Your muscle aches? Sedentary lifestyle. Your memory lapses? In your head. But having a diagnosis is tangible. It’s proof. Patients find a sense of relief just from having something that they can Google.

Yet, what if diagnosis led to no treatment? In the case of APS, the only treatment option is palliative not curative. In fact, there is no cure.


Photo of Josiah with his sibling and mum walking

Rare, by definition, means it doesn’t affect a huge amount of people – less than or equal to 1 in 2000 in fact. As a result, the target market isn’t desirable if you were looking for a business opportunity.

In other words, there’s not much incentive for pharmaceutical companies and little to no research done. Why put money into something that affects less than 1% of the population when there’s common conditions abound?

A lot of life-threatening or disabling rare diseases are overlooked. Furthermore, in the public sphere of rare conditions, we often focus on the pain and suffering as if it necessary to quantify.

This places a high burden on each patient to prove their need and their worthiness of treatment, which leads me to make the case for antiphospholipid syndrome (unfortunately, my awareness of the trap doesn’t signify my immunity to it.)


APS is a rare autoimmune disorder which at its core causes blood clots to form – in my case, in the brain. It’s often only considered in patients after multiple miscarriages, blood clots, or a devastating event of which only 50% survive (known as catastrophic antiphospholipid syndrome).

However, affecting the vascular system, and everything connected, makes the spectrum of APS-related symptoms that much broader.

There’s also an argument to be made for its rarity. Is it really as rare if it’s heavily misdiagnosed? In all likelihood, the data represents a low estimation of the reality and there are people out there with a condition that has yet to show itself.

I will conclude by adding that there’s many out there who have a rare disorder, but they’re not alone. It has become evident that we share unique but similar stories, common thoughts, fears, and emotions. Some rare disorders are obvious – you can see the symptoms on the outside. Others are “hidden”. Either way, living with a rare illness is isolating, overwhelming and challenging.

Our conditions may be debilitating at times, and we may face more challenge simply because of the limited scope of information available to us.

Research, if it exists, into rare illness is focused on looking for ways to better diagnose, treat, or cure. However, it can be particularly challenging because of limited funding, small patient groups and the need for collaboration.

By raising awareness, we can improve early diagnosis, encourage policymakers to take note and reduce the feelings of isolation shared by patients.

Photo of Joshia with his mum, dad, sibling and dogs.

Thank you, Millie for sharing your guest blog with us.

If you’d like to write a guest blog for Beacon, find out more about sharing your story.

Read more blogs