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  • Loretta MacInnes

Mental Health and Fabry Disease

Mental Health Awareness Week was even more important this year because of Covid-19 and the impact of the lockdown. It got me thinking more about mental health in general, how living with a disease like Fabry impacts on us and what help is - or should be - available through the specialist teams.

With any rare disease it can take almost 5 years, on average, to be diagnosed. During this journey it is not uncommon to be made to feel like it is ‘all in your head’, that you are exaggerating symptoms, or even that you are a hypochondriac prior to receiving an actual diagnosis. You just have to read the blogs about rare diseases to understand the mental health problems that can build up after being told for the umpteenth time that they can’t find a reason for your symptoms. This wears you down over time and can result in a range of problems including depression, anxiety, self-esteem and confidence issues.

Once a diagnosis is received there is often a huge feeling of relief. At last there is a name for your illness along with confirmation that you aren’t imagining or exaggerating your symptoms. But this is often short-lived as the implications of the diagnosis sink in. It is well documented that mental health issues often occur when a diagnosis of a rare illness has been received, and Fabry Disease is no exception. This isn’t surprising given that the illness may cause severe fatigue, extreme pain and organ damage. But even if you haven’t got any of these issues, the very fact that you have a genetic disorder that could be passed on to any children you have can itself be enough to tip you into a depressive state.

Armed with a diagnosis, most people do some research about their condition and how it will impact their lives. The internet is obviously extremely important here and can be a very useful tool when researching your illness. However there are also numerous sites with outdated, or just plain incorrect information, and these can be harmful and even increase mental health issues such as depression and anxiety. I have first hand experience of this - after my son was diagnosed with Fabry in his mid-teens, he read on-line that it was life limiting and that he wouldn’t live past his forties – TOTALLY INCORRECT INFORMATION! Despite his family and clinicians trying to reassure him that was old information, pre-dating the treatments that are now available, it stuck with him and he developed severe anxiety and depression. After several years his mental health is improving, and he has recently started studying again. But it has been, and still is, a long road to recovery.

The impact Fabry has on your everyday life can itself cause mental health issues with worries including the progression of the illness, or the impact it may have on your family. Being unable, or having reduced capacity, to carry on working, the reduced ability to exercise or just taking twice as long to do the everyday things you used to take for granted can all take its toll on your mental state. And mental health issues can spiral out of control as knowing you have depression, for example, can cause you to become even more depressed.

Fabry Disease sufferers are fortunate that treatments for the disease exist and are effective. These treatments include Enzyme Replacement Therapy (ERT) in the form of Fabrazyme or Replagal, and an oral therapy Galafold. But whilst treatments for the physical illness exist, what is done to secure a person’s mental health? We know that a person’s mental and physical health are interconnected, with our physical health directly impacting on our mental health and vice versa. However, based on my own experience, physical and mental health are treated as two separate entities, and we miss a huge opportunity to treat both the physical and mental health in a much more integrated approach that would pay dividends for both the individual and the NHS in the long run. In 2016 The Kings Fund published a report, Bringing Together Physical and Mental Health, which illustrated that health is ‘a product of biological, psychological and social processes’ and that people with long term conditions suffer from high rates of mental health issues. This publication also stated that the lack of support for mental health actually reduced life expectancy and that not integrating physical and mental could cost the NHS £11 billion per year.

So what relevance is this to individuals diagnosed with Fabry Disease?

Whilst the specialist centres that treat Fabry offer excellent treatment and support for the physical illness, I believe the area of mental health support needs more focus and I would appeal to all specialist centres to think about how they could improve this. The key, I believe, is in how support for mental health is integrated into the overall treatment package. At the moment the onus is on a person to say if they believe they are having problems with their mental health. If you have been depressed, or suffered from anxiety, in my experience the last thing you want to do is tell anyone about it. And it just gets worse the longer it goes on. Prevention i.e. helping to stop a deterioration in mental health should be the goal, and as soon as a diagnosis is given, a package of support for the mental health issues, as well as the physical health issues, should be provided to each individual. I ran this past my young adult son who also has Fabry. He was offered mental health support via his specialist centre three years after diagnosis to try and help him cope with his neuropathic pain. He was given the choice of either a face to face or group session. He would not go into a group environment as his anxiety prevented this, so he agreed to try the one to one session. It took several months for the first session appointment to come through, and by this time he had built up a huge barrier to it and he just didn’t engage at all with his therapist. After three sessions he stopped going.

A year down the line I asked my son about this experience and what he felt could have improved the process for him, or what would have enabled him to fully engage with it. His view was that therapy just wasn’t for him at that time. However, he did have a view about therapy in general saying that he doesn’t feel that it’s helpful to keep going over the diagnosis and talking about the negative side to the illness. He felt that a session talking about coping with his pain, or why he wasn’t engaging with his studies just reinforced the negatives for him and made him feel more depressed and anxious. He told me that it may be helpful to have a regular discussion (perhaps once a quarter or every six months depending on budgets) with a therapist looking at reinforcing the positives in your day to day life, and leaving with positive feelings whilst also learning about tools that can help you where needed. He said he’d prefer something like this via video (Skype, Zoom etc) and that it should be offered to everyone as part of their specialist care as soon as they receive a diagnosis. His view is that you need to build up a relationship with someone and trust them, and the sooner this starts the better. To me this seems like a great idea – building resilience and preventing the development of mental health issues.

There is no doubt that specialist centres are thinking more about care packages that will address both the mental and physical issues linked to these complex conditions, which has got to be good news. The availability of technology in the form of Apps, on-line video calls and websites that are becoming more widely used across the NHS is certainly a good thing and will help specialist centres deliver a greater range of services to their patients. In the future let us hope that our mental and physical health are treated as one and the same, and that prevention, rather than cure becomes the norm.

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