When Dr Genevieve noticed some problems with her grip and speech she put it down to stress. GP is a high pressured environment and like many doctors, she had a tendency to not worry too much about her own health. She was the first in her family to be diagnosed with myotonic dystrophy, a rare genetic condition, but she wasn't the last. 

In this interview with Dr Lucy McKay from Medics4RareDiseases, Dr Genevieve talks about her diagnosis and how it has impacted her as a patient and as a doctor.

She has learned a lot and we can all learn a lot from her.

This interview was recorded to mark the first ever International Myotonic Dystrophy Awareness Day. Learn more here: https://www.myotonic.org.uk

This interview is for driving awareness. It is not for formal education or medical consultation purposes. Find out more about the awareness raising efforts of M4RD, including who our commercial sponsors are at www.m4rd.org

Doctors are patients too

Today we will be exploring how people with classic heart attack symptoms are not being recognised as having heart attacks because they don't meet the usual patient profile. I will be joined by representatives from BeatSCAD, Karen and Sarah, plus Dr Adlam, Consultant Cardiologist to raise awareness of spontaneous coronary artery dissection (SCAD) and discuss how the unmet needs in this one condition are reflective of many in the rare disease community.

Please note that this interview is for awareness driving only. M4RD has commercial sponsors that have not editorial control over this or any of its activities. Find out more at www.m4rd.org/sponsors

Not your usual heart attack

Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease, Moyamoya, at the age of 17. This November she is launching her beautiful graphic memoir, A Puff of Smoke, which tells her story using the power of the sequential narrative.

A Puff of Smoke - One girl's 11 year wait for a diagnosis

3.5 million people in the UK live with a rare disease but despite this there continue to be significant barriers to diagnosis and management of these diseases. M4RD are driving an attitude change towards rare diseases amongst medical professionals in order to help reduce the diagnostic odyssey and improve people's lives.

A note on sponsorship: All funding for M4RD has been received in the form of unrestricted grants that are used for achieving the objects of Medics4RareDiseases. M4RD seeks funding from across the industry and does not endorse any companies or products. Its materials and projects are not influenced by such commercial sponsorship as it works independently from these relationships. M4RD’s mission is in raising awareness and any information does not constitute medical advice.

Medics 4 Rare Diseases

Popular tracks