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4 Comments

  1. Lisa Foster
    15th February 2021 @ 3:35 am

    Fantastic perspective, expertise and clear actions for a rather complex and still resistant idea (In New Zealand). Thank you so much for the work, advocacy and persistance provided to this vital area of awareness of rare diseases.
    We hope to follow in your rather large footprints and gain a National Framework in New Zealand eventually!!
    Please sign and share our petition if this resonates with you;
    https://our.actionstation.org.nz/petitions/reform-our-health-system-to-include-all-new-zealanders-living-with-a-rare-disorder?

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    • Lucy McKay
      22nd April 2021 @ 8:28 pm

      Thank you Lisa! We’ve signed. And if there is anything we can do to adapt our materials for your audience please do let me know. Best wishes, Lucy

      Reply

  2. Paula McKinney
    27th February 2021 @ 10:13 am

    Hello! I am a qualified doctor (MRCP 1996) but am no longer working. I have recently been diagnosed with a very rare disease (EGPA) -think miniature pink zebra- after years of seeing specialists. Despite my medical background and being able to self-advocate and navigate the system, and that I had essentially diagnosed myself, I had a hard time getting taken seriously (‘anxious medic’). In fact I had to become seriously unwell before getting finally diagnosed.
    The experience made me think about the difficulties of diagnosing rare disease.
    I had an idea which may be of interest regarding medical education and came across your excellent piece above.
    I feel that there is little feedback in the learning cycle of physicians and so they do not realise when they ‘miss’ cases which later turn out to be rare diseases. Of course many diseases are not diagnosable in their early stages as they are are often an incomplete constellation of signs or symptoms so they are not truly ‘missed’. And even for diseases when the elements are all present it is understandable that doctors cannot be trained in all rare diseases. So a doctor who has ‘reassured’ a zebra that they have ruled out all the usual suspects will not find out that the patient was subsequently diagnosed with a rare disease when more obvious, or typical stripes emerged. They get the impression that they are doing a good job and presume that the discharged patient has gone away reassured that there is nothing serious wrong.
    This is particularly the case when the patient has gone to a series of specialists often in different hospitals in search of answers. The doctor will then have a false idea of the prevalence of rare disease as a whole, as there is no feedback in the system. GPs do get feedback as they are the central point of contact, but as generalists it is a big ask for them to make rare diagnoses.
    My suggestion is that when a very rare diagnosis is made and coded, an alert should be sent automatically to the specialists who have seen that patient to notify them of the outcome. This would be a point of interest or learning rather than any judgement on whether a diagnosis could or should have been made earlier. This would serve as a reminder to physicians that zebras are more common than we think and are often missed.
    This might help the mindset to change, and even help with pattern recognition in diagnosis.
    I think it should become as acceptable for doctors to present a rare case they missed at a meeting as one they diagnosed.
    If there was a worry that some doctors would this feedback difficult they could opt out or in to these notifications. I would envisage it to be similar to the Yellow card side-effect system but maybe a black and white striped virtual card instead!

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  3. Lucy McKay
    22nd April 2021 @ 8:27 pm

    Hi Paula, thank you so much for your insights and I think this is something I have not thought about enough so I am really grateful for you taking the time to describe the problem to me. You’re absolutely right that the lack of feedback perpetuates the perceived rarity of rare disease. This would be a really interesting subject to discuss more. If you would like to please email me on lucy@m4rd.org

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