If a patient tells Genevieve Allum she can’t possibly understand what it is like to live with chronic illness, she holds her tongue.

If she is not well enough to work and must cancel appointments, the most she will say to patients is: ‘Doctors get ill, too.’

Dr Allum’s condition is invisible – and complicated. Regardless, her own health is irrelevant to her patients; she feels it has no place in her GP consulting room.

Yet, keeping a professional distance comes at a cost. ‘Dealing with a health problem [of your own] when all day, you're listening to other people's ... it is difficult,’ she says understatedly.

‘Sometimes, it means I have more sympathy, sometimes less: it is both. I think there is this feeling that if you look healthy, you are healthy, and that if you are a GP, you have a certain lifestyle and you are fine.’

Dr Allum, who works at a practice in West Sussex, has a rare genetic condition called DM1 (myotonic dystrophy type one) – a form of muscular dystrophy which affects not only muscles but many other organs, too.  She was diagnosed in her early thirties.

DM1 is progressive and potentially life-limiting. It affects every cell in the body and there is no treatment or cure.

For Dr Allum, the main symptoms are muscle weakness and wasting, central somnolence and digestive issues – but there are many others and they can be unpredictable. Some days, her jaw tightens and her speech is slurred; other times, she may struggle to type. On days she is not working, she has to schedule in regular naps and generally struggles to walk as far or as fast as friends.

These physical symptoms are only part of it; her diagnosis has had other powerful impacts for her and her family.

Dr Allum’s prognosis is uncertain but of one thing she is sure: the need for much greater, continuing support for people with rare disease – including health professionals.

In hindsight, Dr Allum had probably experienced symptoms years before diagnosis. With inconclusive tests and lack of follow-up, it was easier to dismiss them as stress.

However, while scuba-diving in Australia in 2018, she found she could not release her grip on a squeezable water bottle; the same thing started to happen when she picked up the kettle or used the handbrake. Myotonia, or delayed muscle relaxation after contraction, is an indicator of DM1, she now knows.

Her GP referred her to a neurologist who initially discounted myotonic dystrophy because, they said, ‘it’s something that runs in families and you don’t have any of it in your family’.

However, electromyography (a test measuring a muscle’s response to stimulation by electrodes) produced an involuntary, repetitive pulse, which amplification translated into a high-to-low whistle.

‘He was getting really excited at what he called a dive-bomber sound on the machine, saying, "I've rarely ever seen this. This is really unusual”. But it wasn’t helpful. I was worried because you never want to see a doctor who is excited by your condition.’

Subsequent genetic testing led to a diagnosis of DM1 – the ‘worst-case scenario’ for her and one with serious repercussions for her wider family.

Ten relatives have since been diagnosed with the condition, including her father and paternal grandmother, although not all have symptoms. Some who do have symptoms have had to come to terms with the realisation that they were previously misdiagnosed. Other relatives are yet to be tested.

Given that there is a 50:50 chance of passing DM1 on to a child, not all Dr Allum’s siblings have the condition.

Even in a close family such as hers, where affected family members are under the same specialist clinic, navigating this diagnostic journey together has been complicated.

‘Being the first one with the diagnosis almost felt like it was my fault,’ says Dr Allum. ‘But then my brothers who weren’t diagnosed with it, which I was delighted about, felt a lot of guilt too.’

Nationally, waiting times for genetic testing are long and dependent on postcodes.

This is difficult for anyone but particularly alarming for those suspected of having conditions where early treatment can halt progression or even save lives.

Thanks to her parents, Dr Allum was able to go private to speed up her access to diagnosis, including genetic testing. She recognises this fast-tracking is a privilege many can’t afford.

It wasn’t until later, however, that she had genetic counselling: this helps people understand and navigate the effects of genetic conditions in their family and would normally come before a potential diagnosis.

When she and her husband did access genetic counselling on the NHS, it was to support them through family planning at the point they were considering having a child.

DM1 is a triplet-repeat disorder, where the sequence of three DNA nucleotides repeats too many times within a gene. The repeat is unstable, so the condition becomes progressively worse with each generation.

Every one of the family planning options available involves difficult decisions: natural conception without testing, testing during pregnancy, a form of IVF called pre-implantation genetic testing, IVF with donor egg or sperm, or adoption.

‘These are big choices, very difficult decisions to make,’ says Dr Allum, ‘and suddenly a condition that mainly affected me, although of course it always affected my husband, drew him in massively.’

Beyond this, there has been no emotional support for her as an NHS patient with chronic disease: the counselling she did receive, she funded herself.

Dr Allum worries for patients without a supportive family network or the means to source support privately.

‘You can get emotional support on the NHS around a diagnosis of diabetes, for example, but for chronic disease, it doesn’t exist,’ she says. ‘I wouldn’t expect any counsellor to have knowledge of my own condition, but it is still a long-term condition, it’s still significant.’

She is also frustrated that, as a doctor, she feels consigned to a strange hinterland where her professional identity often seems to block compassionate care.

When she first went to her then GP after diagnosis, his response was simply: ‘Oh, how interesting. We have someone else at the surgery with that condition.’ That still rankles.

‘There was no, “how are you doing?” or “how are you feeling?” As GPs, we don’t have much time, we are overstretched but you can still be compassionate. He did not talk to me like a human being.’

Dr Allum recognises not all doctors want to be treated as ordinary patients in consultations – but she does.

‘I might have different questions [from other patients], I might use different jargon but I’d rather my doctor presumed ignorance and just treated me as a patient, to be honest.’

By contrast, with her colleagues, Dr Allum is open about her condition and has good support.

She is, for example, a retained GP, under the National GP Retention Scheme, which supports doctors who would otherwise struggle to stay in work. In her case, this means the working day is shorter, she does not generally undertake training or supervision, and she receives mentoring.

‘I’ve worked there a long time and they know that I always work as much as I can, perhaps more than I really should.’ Then, as an aside, she adds: ‘And that’s another problem: feeling guilty, pushing myself. I know that if I can’t work, it puts more work on my colleagues and it can also mean delays for patients.’

More generally, however, in the profession, she is frustrated about the lack of support for doctors with chronic conditions. For example, her assessments at the Neuromuscular Complex Care Centre at University College London Hospitals are considered elective, so she has to take annual leave to attend.

Likewise, she heard nothing when she approached two professional bodies asking if they had a support service for doctors living with chronic disease and, if not, requesting support to set one up.

Peer support through patient-advocacy groups – such as she has received at Myotonic Dystrophy Support Group conferences – is hugely important but she would also like to compare notes with other doctors. ‘There’s very little that I’ve found in the doctor world for chronic disease.’

The nearest she has had to a supportive professional community is MfRD (Medics for Rare Disease), a charity supporting doctors and medical students to understand and treat rare conditions better.

While it is outside MfRD’s official remit to support people with rare disease, some of those working alongside it in advocacy and awareness-raising, such as Dr Allum, are doctors with rare conditions themselves.

Emma Huskinson, communications lead at MfRD, says Dr Allum’s experiences clearly illustrate the importance of emotional and peer support – and the extent to which rare disease education and support are ‘deprioritised’ within the health system.

Dr Huskinson goes further, pointing out that people in the rare community often carry an extra 'burden of knowledge' as they adopt the role of 'expert patients' – which can be empowering and exhausting.

‘Becoming an expert in your own rare condition, whilst also being the patient managing symptoms, multiple appointments, uncertainty and complex life decisions, can become a huge burden of responsibility,’ she says. ‘It can be overwhelming, particularly when the patient is themselves medically trained.’ 

For Dr Allum, one productive way she can channel her frustration is advocacy – for herself and for the 3.5 million others in the UK living with rare disease. It also enables her, she says, to recover some of the power an incurable disease has taken from her.

Doctors’ tendency to stick to the adage ‘common things are common’ means that rare diseases are often overlooked. The average ‘diagnostic odyssey’ for someone with a rare condition is five years.

Dr Allum encourages trainees to look beyond routine presentations and regularly points colleagues to educational resources, including the FindZebra diagnostic tool and MfRD’s free online courses such as Rare Disease 101. She has also done teaching around DM1 specifically.

‘I talk about the fact that one in 17 people have a rare disease and that’s roughly the same number of adults with asthma. Most rare disease is genetic, so I always say that if you pick it up in someone, think about the impact on the whole family.

‘I don’t know what the future holds, but talking about my condition and raising awareness is the one thing I can do.’

Find out more about rare disease training at www.m4rd.org