We doctors must improve our approach to rare diseases

[helvella]

I'm sure many here understand this article all too well.

Of course, not just rare diseases, but even slightly unusual presentations of well-known and common diseases.

Even a pretty simple look at the argument shows how wrong they are.

If you assume horses, you pretty much guarantee that you will miss zebras - as well as asses, tapirs, and rhinos.

We doctors must improve our approach to rare diseases

The mantra of ‘hear hooves, think horse not zebra’ is greatly contributing to diagnostic delays and poor patient experience, says Dr Lucy McKay

Sun 11 Dec 2022 17.06 GMT

Last modified on Mon 12 Dec 2022 05.22 GMT

Thank you for highlighting the Hughes’s story about having a family member with an undiagnosed condition (‘Nobody knows what’s wrong with me’ – life with an undiagnosed condition, 6 December). The stories are all too familiar to me and motivate my work every day. I am a second-generation rare disease advocate. My brother died of a rare genetic condition before I was born. My mum founded a charity to connect families and drive research on this condition back in the 1980s. Now my brother’s condition has a treatment.

I have watched on the sidelines as the prospects in rare diseases have changed enormously since my childhood. But one thing has changed very little – education for medical professionals. I know this because I trained as a doctor in the UK. I experienced first-hand the way anything rare is marginalised in medical education – in contrast to the government’s drive to bolster the health sciences industry.

There’s a mismatch between some individuals benefiting from futuristic advances in treatment or diagnostics and others who can’t even expect to walk into their clinic appointment and be believed.

Rest of article freely accessible here:

theguardian.com/society/202...

Just adding a link to Dr Lucy Mackay's website M4RD:

learn.m4rd.org/?gclid=CjwKC...

[tattybogle]

'well said' Dr Lucy Mckay.

[Sparklingsunshine]

I would argue they should improve their approach to common diseases as well. Such as thyroid. If they cant manage common diseases effectively then rare conditions? Fat chance.

[helvella in reply to Sparklingsunshine]

To be fair to her, I think she does want that as well.

[Aurealis]

The phrase that stuck out for me was;

“The impact of the “common things are common” mantra contributes to diagnostic delays in rare diseases.”

Doesn’t it just….

So many useless GP consultations sprung to mind… you know the old F2F sort

[JGBH]

Thank you for the link. We need more Dr Lucy McKay!

[snow22]

I tested positive for one of the worlds biggest killer diseases, but more rare in this country. And I had to do it privately and they still manage to refute it! They will lie and cover up just to maintain their own narrative whatever the consequences. And it is true not all patients are treated equally. There is more discrimination in the health service than any system I have come across.

[wellness1]

Thanks for this. Calls to mind something I just read: Revenge of the gaslit patients: Now, as scientists, they're tackling Ehlers-Danlos syndromes

Apparently EDS patients have adopted a zebra as their mascot. The article contains some interesting quotes, such as...

They are redefining what the study of chronic disease can look like by smudging the line between patient and researcher, channeling their experiences into determined, careful science. They are showing that patient-led inquiries could be indispensable in the effort to crack complex, long-misunderstood illnesses, like hEDS. 

“Let’s take these people who really understand, who have really important questions to answer and give them the tools to learn how to answer them,” Gensemer said. “They already come in with ideas about things they’d like to study or projects they could potentially have in the lab. So why aren’t we seeing patient representation in the research that’s going on?”

Like Dr. McKay's work, the article makes the case for better medical education. It also discusses the difficulties faced by those who take on the work of research into poorly understood conditions.

statnews.com/2022/12/12/ehl...

[serenfach]

Many of us with Ehlers-Danlos do not react in any way to local anaesthetic. This a known fact, yet the medical profession dismiss it. I have had a tooth out, a breast op with no pain relief, and the epidural did not work for a kidney removal.

Ignorance or insensitivity?

[Hidden in reply to serenfach]

Pardon?

Do you mean to say you felt everything??? 😱

[Sparklingsunshine in reply to serenfach]

I always wondered why my epidural didnt take when having my son. I had a ventouse and an episiotomy with no pain relief for all intents and purposes. It was horrific. And I always have to ask for more numbling at the dentist. My dentist is a knob and always looks at me askance like I'm a wuss. I have hEDS.

[serenfach]

I had a general anaesthetic for the kidney op, but still could feel through a sort of fog... For the tooth and the breast - yes, everything... They thought me fainting with the tooth was because I was a drama queen. I was a lot more polite in those days, now they would probably hide in a corner!