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3 Tips to Come to Terms with a Rare Diagnosis

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Acromegaly occurs when a benign tumour on the pituitary gland causes the over-production of growth hormone. This results in various bones increasing in size including in the hands, feet and face. Acromegaly usually affects middle-aged adults, although it can develop at any age.

It is a fairly rare condition (there are only about 3500 of us in the U.K.), and when I tell people about my condition the usual response is: “What’s that?” I was diagnosed in 1988 and – although I didn’t know it at the time – it would be the start of a lifelong journey.

Understanding your condition

Living with a chronic condition can be difficult, both in terms of coping with the effects of the condition itself, as well as how those effects impact the people around you. However, living with a rare condition means that most people you meet will never have heard of it.

From my experience of living with acromegaly, I’ve almost become an ‘expert’ patient and have had to learn as much about the condition and its treatment as I possibly can. This has allowed me to understand my symptoms and the treatment options available and has armed me with the knowledge to ask relevant questions. If your condition is rare it is not uncommon to encounter even healthcare professionals outside of your condition’s speciality who have little or no knowledge of how the condition affects other medications and procedures.

One of the side effects of the treatment I received for acromegaly is that my body no longer produces any of the stress hormone, cortisol. This means that my fight or flight response no longer works. So if I encounter a stressful or traumatic event, my body doesn’t produce enough cortisol to allow me to deal with it.

In extreme cases, I need an injection to help counteract the stress instead. It’s important that my healthcare team knows about this type of deficiency when carrying out any traumatic medical procedures and it’s alarming how many people have no idea.

It’s also important to ask about possible conflicts with any new or existing medications you are prescribed. If you’re unsure, speak to your GP or healthcare team who will be able to advise.

Adapting to the ‘new normal’

Dealing with family, friends and your employer can also be difficult if you live with a rare condition. To begin with, it’s possible that none of them will have heard of it and will have no idea how it might impact your day-to-day life. To be honest, neither did I, when I was first diagnosed.

Normally when we get sick and we receive a diagnosis and treatment, we assume that we’ll eventually get better and return to a ‘normal’ life. Unfortunately, for people living with long term chronic conditions, this simply isn’t true. It can be difficult for those around you to understand why you aren’t ‘normal’ again, once the novelty has worn off.

Typically, the surgery I had to remove my tumour has a return-to-work time of six weeks. I know of some people who have gone back to work within that timeframe, but the reality for most of us is that it takes much longer. In my own case, it took six months before I was ready to work again. When I did return to work, I received no support or understanding from my employers and they expected me to function as I always had. Eventually, I left the company because I simply couldn’t cope.

For some of us living with a rare condition, life never fully returns to ‘normal’ and we have to adapt to the restrictions imposed on us. Many patients with rare conditions report feelings of social isolation and loneliness. Support and understanding from family and friends can be invaluable in helping you cope, so it’s important to educate them about your condition and how it affects your daily life. If you have no outward physical symptoms, it’s natural for people to assume that there is nothing wrong with you.

Chronic fatigue is another side effect of the treatment I received and the lack of energy greatly restricts my daily life. At first, it was difficult to get my family to understand how bad the fatigue was and that I wasn’t just “being lazy”. Now, if they find me asleep during the day, they leave me alone until I wake up.

Finding a good support network  

It’s important to appreciate that you are not the only person living with your condition. There is often a wealth of patient experience out there to be shared.

It may help greatly if you can access a support organisation that allows you to share experiences with other patients who are travelling the same road as you. There is nothing quite like talking to another patient who lives with the same condition. You don’t need to explain what’s wrong with you and it’s likely the other person will share some of the same experiences as you, and what’s more – will be able to offer some helpful advice.

It can be very rewarding to volunteer for a patient support organisation that supports your condition. Over the years, I’ve received a lot of useful information and support from the Pituitary Foundation here in the U.K. I felt that I could share my experiences with newly-diagnosed patients and I eventually became a volunteer on their telephone helpline – a position I enjoyed for 14 years. 

The takeaway

I would have preferred not to have a pituitary tumour but, in some ways, it has changed me for the better. I am more tolerant and understanding, I have made some very good long-term friends and I know that I have helped many patients cope with their own journeys. I have made peace with the fact that my life will never return to how it was before the tumour, but I’m grateful for the treatment and support I’ve received. I’m also grateful that I’m still here, enjoying life.

NPS-IE-NP-00138 May 2021