In the run up to Acromegaly Awareness Day on the 1st November we are launching our first ever Digital Disease Spotlight. This blog is the first in a series of guest content aiming to highlight the rare condition acromegaly. Acromegaly is a rare condition where the body produces too much growth hormone, causing body tissues and bones to grow more quickly. www.nhs.uk/conditions/acromegaly
In truth, I was no stranger to rare disease already. At four years old I was diagnosed with Wyburn-Mason syndrome, an exceptionally rare arteriovenous malformation around my optic nerve and midbrain that rendered me blind in my left eye by the age of ten. But WMS was different; only 1 in 60 million people are diagnosed with it so the chances of me meeting anyone else or being an advocate for the condition were exceptionally rare. And of course, I wasn’t thinking about this during my formative years.
In 2007 – quite by chance – I was diagnosed with Acromegaly during an OSCE (Objective Structured Clinical Exam) at Bristol Eye Hospital by final year students tasked with diagnosing my Wyburn-Mason syndrome. Before they even looked in my eyes, all of the students assessed me ‘as a whole’ and commented on my protruding jaw, enlarged forehead and overly large hands. When asked what could be causing this they all concluded ‘an excessive release of growth hormones caused by a pituitary adenoma’. I had no idea what they were talking about, and so at the end of the OSCE I asked for clarification from the examiner. Rather casually he said:
You should go and see a doctor. You might have Acromegaly
And so here is my first observation from my travels around the Acromegaly world: everyone is diagnosed differently. During AcroTales I’ve heard numerous ways in which diagnosis has been reached and often – like myself – completely by chance. More often than not people are told they have one condition, then another and then another. Yet we, as patients, often sense this is wrong and, eventually, Acromegaly is reached.
It is of course highly unlikely that our GP will have even seen a case of Acromegaly before. That makes diagnosis even harder
We all know of the Diagnostic Odyssey and how long it can take to reach a diagnosis. With Acromegaly it’s in the range of 6-10 years and it can be particularly hard to diagnose because the development of the symptoms are so subtle. We also live in a world where we often don’t see the same GP when we go to the Doctors surgery, and so there is a lack of consistency in seeing the person we pin our hopes on to notice when something is not right. It is of course highly unlikely that our GP will have even seen a case of Acromegaly before. That makes diagnosis even harder.
Acromegaly is associated with a range of symptoms: change in facial appearance, enlarged hands and feet, displaced teeth, joint issues (if undiagnosed for a long period of time) and hormonal impact (such as low production of testosterone). However, some Acromegalics may not experience all of these.
And that learning curve continued when working on AcroTales. Those kind enough to tell their story would share photos with me and, whilst most had a noticeable change in appearance, a few had barely any. But of course that’s not to undermine their experience of their symptoms. It’s what’s inside that counts.
Since writing Me, Myself & Eye I’ve been fortunate to travel the world a little, attending conferences in Canada, New Orleans, Vienna and of course the UK Acromegaly Meetups I organise in the UK. What has become apparent is that – whilst symptoms will often be similar – the approach to treatment can be very different. This is of course noticeable in the way the US and the UK approach health care and particularly the administration of drugs post-surgery.
And it makes me feel very fortunate to have a service such as the NHS by our side. Yes it can have its issues but – in my opinion – it seems wholly unfair to have to pay for expensive medication through insurance for a condition that seems to be random in who it chooses. Of course this could apply to many other conditions and maybe I’m biased, but an Acromegalic will often have to be on long-term medication to suppress any residual tumour that could not be removed and may even have to undergo radiation therapy or more. To add a financial burden to this seems wholly unfair.
Things will be OK, that you’ll get through this, that there’s light at the end of the tunnel
Yet everyone I’ve met who has been through the journey of Acromegaly has – in the main – come out with a new perspective on life. And that’s why producing AcroTales has been so important for me. I wanted those living with the condition, especially those who are recently diagnosed, to hear that things will be OK, that you’ll get through this, that there’s light at the end of the tunnel.
Acromegaly may shape you. Don’t let it define you
For more information and to get in touch with Dan please use the buttons below:
For Support and to find out more about acromegaly from our Digital Disease Spotlight campaign you can read and listen to Dan Jeffries story to find out how he was inspired to create something positive from his diagnosis. Kara LaFrance tells us how not giving up is the only option when it comes to her personal battle with acromegaly. We also speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT) to gain her insights and perspective of the rare condition.
You can also read Our RARE Book review by David Rose, Loving large: A Mother’s Rare Disease Memoir is an insight into one rare disease family’s diagnostic odyssey. This book follows the journey of Patti Hall and her son with a rare form of acromegaly, called gigantism. Living life with a rare disease is complicated and getting the diagnosis is only a small part of that journey, if anything, it’s just the start.
Rare Revolution Editor