Dr Niki Karavitaki talks to RARE Revolution Magazine for Acromegaly Digital Disease Spotlight29/10/2020  As part of our “Acromegaly Disease Awareness Spotlight” we were honoured to speak with Dr Niki Karavitaki, Senior Clinical Lecturer in Endocrinology at the Institute of Metabolism and Systems Research in the University of Birmingham, and Honorary Consultant Endocrinologist at the Queen Elizabeth Hospital Birmingham where she co-leads the Pituitary Service and Pituitary Multi-Disciplinary team (MDT).
Dr Niki Karavitaki
For surgery, the problem lies when the acromegaly causing tumour is large and is in proximity to structures that the surgeon cannot risk damage to without severe consequences. This means the surgeon cannot achieve full removal of the tumour giving patients the best chance of disease remission.
 The co-ordination of care in patients with acromegaly is vital for optimal outcomes and starts as soon as the diagnosis of this condition is established. A number of specialties need to be involved (endocrinology, pituitary surgery, oncology, neuroradiology, neuroophthalmology, gastroenterology, respiratory medicine, to name a few). It is important to have a very clear protocol and management pathway that outline which systems and comorbidities need to be monitored and how often. Usually the endocrinologist would oversee and orchestrate this. It is also important that specialists with experience on the condition should be assigned to the patient and patients need to be seen in centres with appropriate expertise. In the UK we are lucky, because there is a good network of pituitary centres dealing with acromegaly.”  It would be good if there were more treatments on the horizon that would have better efficacy, minimum side effects and were more cost effective for payers Unfortunately, not all treatments are effective for every patient, some are very costly, and none can reverse completely all the comorbidities or physical changes that occur after the development of acromegaly.”  ''Mental health is an element we haven’t looked at systematically as clinicians. We have focussed to date on physical comorbidities and survival, but the question of quality of life and mental health have not attracted the attention it should do. Studies with validated questionnaires looking at quality of life which include not just physical but also mental health and social, emotional and well-being aspects, show that patients with acromegaly are behind compared with controls from the general population. This is an area that needs more investigation.
 “I liked a lot of things in medical school and even when I graduated, I enjoyed a number of specialities, so it was difficult to choose. However, the reason I chose endocrinology is because it is like mathematics.
Over the years I realised it is a beautiful specialty because you can be a true physician, looking at the patient as a whole, and at the same time, a real expert. It is an area in which you can see a true positive change in your patients, not in all cases, but in the majority anyway, and I really like this feeling of being obviously useful. As for pituitary, it was really a series of events. I ended up doing a Masters on Neuroendocrinology at the Imperial College of London as I had a one-year gap. Without really knowing much about it, I thought it sounded quite fancy and that was how it started.
 “Acromegaly is a rare disease and because of this, the focus of healthcare systems and research is not as prevalent as with other more common conditions. I completely understand the need to meet the demands of, and the consequences of not supporting clinical practice and research in common conditions, but on the other hand, every human being, each patient’s life is valuable, no matter how common or not their disease is. Society as a whole needs to show that it is inclusive and more focus on rare diseases and the people affected by them is one way to achieve this.'' 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.
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If you or someone you know has been recently diagnosed with acromegaly or if you are concerned by symptoms there are support services out there for you, no matter where in the world you reside. We have done our research and found the main acromegaly support services and created a resource to take the stress out of searching for support.  To get in touch with these support services you can 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. Today we are launching our brand new Digital Disease Spotlight. This is a week long campaign to shine a light on a specific disease or condition. While diseases and conditions might be individually rare, the challenges they pose for those affected are common to people across the globe. These campaigns aim to educate, raise awareness and we hope that by sharing these campaigns with our powerful RARE community you can help us to highlight them and drive for change in research and treatment.  Creating a clear pictureSometimes in the rare disease and medical world the sheer amount and different types of information available online can be overloading. Jargon and statistics can boggle the mind and you really need to know that what you are reading is from a reputable source. It can be difficult to decipher the complicated medical terms and percentages from the really simple yet ultra important things like 'what a condition is or why it happens, how you can identify it and what treatments are out there'. To tackle this we have pieced together all the basics and snipped them into one handy infographic. So next time you feel swamped by information overload you can refer to this resource and please share to raise awareness of acromegaly. Acromegaly is a rare condition where the body produces too much growth hormone (GH), causing body tissues and bones to grow more quickly. Growth hormone is produced by the pituitary gland situated behind the bridge of your nose at the base of the brain. Acromegaly is caused by benign tumours of the pituitary gland which cause the over production of GH. Symptoms of acromegaly develop slowly over time, leading to changes in the bone and soft tissue, particularly of the hands, feet, and facial features. Acromegaly is usually diagnosed in adults aged 30 to 50, but it can affect people of any age. When it develops before the end of puberty, it is known as "gigantism". Acromegaly can cause a wide range of symptoms, which tend to develop very slowly over time. Please see the infographic below for more information.  For more information about acromegaly from recommended sources 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. 
Like many other charities and organisations this year, Wolfram Syndrome UK had to change the way we held our annual conference for our community, clinicians, and researchers at the end of September. Switching to a virtual conference As we made the decision that we would have to go to a virtual conference, we decided this would be a great opportunity to really open it up to the wider global Wolfram syndrome (WS) community and enable them to join in. We promoted our event via our e-newsletters, our website, our social media pages as well as pages we are linked with. It was decided to have participants register for each of the presentations, this way they could choose which ones they wanted to watch, and we wouldn’t risk people dropping out and not coming back. The agenda was sent out with the times for each topic and the registration links to each one. By asking people to register it meant that we were able to capture some useful information such as email address, where they are from and their link to WS. We have then been able to send out a feedback questionnaire afterwards to help us plan future events as well as asking for permission to add them to our mailing list. We recorded each presentation and the two workshops so those community members unable to join on the day were able to watch later from our website and social media pages.  The ups and downs of a virtual conference Feedback has been positive for this event as we had people from countries including USA, Japan, Hong Kong, and Australia able to participate who wouldn’t normally be able to attend for just a weekend. So in this respect a virtual conference worked well. It was however slightly more stressful with regards to the planning and execution. One speaker was away from the mainland and wasn’t sure how reliable the Wi-Fi signal would be. He did send a recording, which we had to use, but this just didn’t work as well as a live presentation. Also, there was the worry that if a speaker didn’t log on due to issues it wasn’t as easy to swap the presentations around as it would be if you were in a live conference. One downside was the fact that we couldn’t have the social side of conference which many of our community look forward to just as much as hearing the speakers and attending the workshops. Hopefully we will be able to return to normal next year! We are already underway with the planning and will plan as if it will be a normal conference, but we’ll be ready to convert to an online conference if necessary. ABOUT WOLFRAM SYNDROME UK Wolfram Syndrome UK (WSUK) are the only charity and website in the UK for this ultra-rare condition. WS has four main features - Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The two features that should alert a medical professional to the possibility of WS are the Type 1 diabetes and vision loss or OA. No two patients are affected the same and there are many additional medical issues that an affected person can develop. As many medical professionals have never heard or come across the syndrome, it was felt the UK required a website where these professionals and families could find information and support that might be helpful to them. WSUK as a national charity help fund research and provide support for those affected by the condition and their families. We feel the more people that know about WS the better; and will endeavour to make sure that hospitals, Doctors and other health care professionals are aware of this site. Registered Charity No: 1152445
 I am not new to telling my story – I started with blog interviews circa 2009 while talking about my handmade cards. What’s a graphic designer, artist and rare disease patient supposed to do! For me, I must create. See some of Kara's creations from this year below: the spirituality of the bee, peaches, the fig tree But I’ll back up a bit. When I was twenty I had my first migraine. It was at the back of my head. The sinus infection that seemingly caused it went away but the migraine never did. After graduating with a BA in graphic design I moved to Boston. Migraines and neck pain plagued me daily. I was diagnosed with PCOS (this proved incorrect) and insulin resistance. It needs to be known that these symptoms and others under metabolic syndrome are often precursors to acromegaly. Until the medical community starts testing for acromegaly when a patient continues to feel unwell and not responding to medications it’s time for some extensive blood work and a contrast MRI.
 When I was twenty seven, after seeing a plethora of doctors and having been officially “retired” for two years, I found a Godsend. A doctor, who on the first visit knew I had a pituitary tumour. I had never heard of a pituitary tumour, by the third visit he had the proof. In 2005 I was diagnosed with a prolactinoma. In 2007 it was re-diagnosed as a dual secreting tumour. The growth hormone (GH) presented itself. In April 2007 I had transsphenoidal pituitary surgery. Although they removed all of the tumour my numbers did not return to normal. This led to five years of injections three times a day.
In May of 2018 I experienced a hellish infection, gallbladder removal, hospital stay and home recovery. Thankfully, I no longer needed the injection. Radiation had worked in six years instead of the average eight to ten! I cannot forget to add that although I don’t look like I have acromegaly to most, my jaw and tongue did grow out and to the right. In December 2017 I had my jaw broken and I spent four years in braces. The perfect surgeon put acromegaly as the number one reason for surgery. This is key. I realised years ago that I constantly bit my tongue on the right side and this was pushing my teeth outward. In October of 2018 I had RF ablation of my tongue. In essence, they electrocuted my tongue to cause shrinkage. This needed to be repeated but last year was a rough year, so I thought, then COVID19 halted everything. 
I was diagnosed with a thigh and ankle skin biopsy. The facts cannot be disputed. But other odd symptoms, itchy legs, neuropathic itchy legs to be more precise… This feels like insanity. He looked at me funny. I thought, oh-no another disbeliver My third of four neurologists last year was a sleep specialist. He looked at me funny. I thought, oh-no another disbeliever. But he waited, listened and came back with SFN caused restless leg syndrome. My sleep has been a major issue for so long but I do not have typical RLS. More often than not I fall into the lower percentages of everything. The skin on my legs was a mess and I was so itchy! A dermatologist went above and beyond to figure out what could help calm an itch that wasn’t really there. The neurologist, well she was fired. Don't be afraid to disagree and part ways with a doctor. The diagnosis of Small Fiber Neuropathy lead to IV ketamine infusion treatments. This helps. But I realised that a massage before- hand and afterward made it ten times more beneficial. My pain management specialist at Memorial Sloan Kettering Cancer Center in New York City has stated it a different way, he said that the Ketamine was helping the massage not the other way around.
The shutdown has devastated me, possibly for life. My pain management doctor is not sure if I can ever get back to where I was… which was not very good in the first place. Time to start searching for autoimmune diseases again. I continue to fight on.  Why? Why is this my life? I do not know. But I am tenacious. I will never lose hope. I have faith. I choose to fight I am technically in “remission” from acromegaly but I am fighting for the movement I am losing. I am fighting for quality-of-life. I am fighting for all those with late diagnosis and all the diseases, syndromes and symptoms this causes.
My surgeon in 2007 told me it is not “cancer“ but make no mistake it is a cancer — it affects every system of your body. He added I would have to fight for the respect a patient with a cancer diagnosis receives. 12 years later that is still my undeniable truth. I share my story hoping people will not feel alone. That they will not stop fighting for their best life and through it all don’t forget to live To stay up to date with Kara and her inspiring advocacy journey or to get in touch 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. Dan Jeffries reads Me, Myself & Eye exclusively for RARE Revolution, Digital Disease Spotlight19/10/2020
Told through an innovative new approach that combines the traditional reading experience with modern technology, Me, Myself & Eye really lets the reader delve into Dan’s life story. Use your smart-phone, tablet or computer to look at family photos, medical documents, scans, videos and even listen to music he’s written over the years. Me, Myself & Eye is a memoir that is both fascinating and insightful, told with a fresh, honest and unique voice. You can listen to chapter 31 of Me, Myself & Eye, 'Showtime' recorded exclusively for Rare Revolution Magazine:If you liked this you can listen to the full audio book version of Me, Myself & Eye narrated by the author himself or perhaps you fancy a more hands on experience with the interactive ebook and if none of those take your fancy, you can get Me, Myself & Eye in good old fashioned print!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. 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. Mr. Mawutor Kwame Ahiabu had his career in science planned from early on, however, it was personal circumstances that led to him choosing his specialism of Nephrology and is fuelling his current research in the Greater Accra region of Ghana. As part of our RARE Nephrology extended content we are delighted to welcome Mr. Ahiabu as our guest blogger.
A career in science has always been my aim as an individual. The prospect of understanding and answering questions about human life and existence inspired my choice of biomedical and molecular biology. Most often, scientists are motivated by personal life experiences when deciding to pursue a particular field of interest — I am no exception to this. My journey in biology began with my admiration and curiosity of the anatomy and physiology of the circulatory system. Although studying this biology and the circulatory system were intriguing, I still needed the spark that would motivate my choice of study in my scientific career. This was attained when I had an unfortunate but career driven encounter with acute renal failure. A three-month battle with acute renal failure triggered my interest in the field of nephrology. In my country, young students that show an interest in biology are most often encouraged to pursue a career in medicine. But I preferred to be an active research scientist because of my curiosity and urge for discovery. Thus I opted to study molecular biology and biotechnology which I believed will equip me with the skills and knowledge in my life as researcher in nephrology. A three-month battle with acute renal failure triggered my interest in the field of nephrology. My research is focused on characterisation of renal genes and other molecular markers that are specific to individuals with rare nephrological diseases. This study, to be undertaken in the Greater Accra region of Ghana, will take into consideration other genetic diseases that interrupts the physiology of the kidneys. With an overall aim of determining genetic variations among diseased individuals, the study will also describe the prevalence and the genetic basis of rare nephrological diseases in the region. There is no doubt that the journey of a scientist is a long and grumpy one but my experience with acute renal failure keeps motivating me to make a significant contribution to the field of nephrology thus helping affected people.
A water-shed study has now been published in the leading medical journal the Lancet, showing the first effective treatment for the rare genetic disease alkaptonuria (AKU). The treatment, Nitisinone, prevents the build-up of an acid that attaches to joints and bones turning them black and brittle, leading to severe pain, joint replacement, and potential lifelong disability. Twelve organisations – under the name DevelopAKUre – implemented the trial, called SONIA 2 (Suitability Of Nitisinone In Alkaptonuria 2). It included hospitals, universities, patient groups, biotechs and a pharma company from all over the European Union and was financed by a £5m grant from the European Commission.  The AKU Society patient group took a leading role in the consortium and was instrumental in securing its funding, along with the design of the trial and recruiting patients. SONIA 2 is thought to be the first truly patient-led clinical trial. Sobi, the company that makes the drug, is now waiting for the European Medicines Agency (EMA) to licence the drug for use in AKU, leading to it being made available to all AKU patients in Europe. Nick Sireau, CEO of the AKU Society, said: “Nitisinone gives AKU patients great hope for the future. Both my sons were born with AKU and now face a future without growing up with the damaging symptoms of the disease. “Working together across various sectors has led to a drug that will make a real difference to people’s lives. I am immensely proud of all the hard work and drive of those involved and the patients who volunteered to take part in it.”
Professor Lakshminarayan Ranganath, Chief investigator of DevelopAKUre, said: “We are immensely proud to reach this ground-breaking milestone in finding a treatment for AKU. The outcome from this research gives hope to those patients diagnosed with this rare condition. It is a significant step forward that we will now be able to provide an effective clinical treatment. “The work carried out within the SONIA 2 clinical trial is great example of how important research such as this is, and the power it has to make a substantial and life changing impact for our patients. About Alkaptonuria (AKU Alkaptonuria was the first identified genetic disease and is also known as ‘Black Bone Disease’. It causes a build-up of toxic acid in the body that eats away at the patients’ bones, cartilage and tissue, turning them black and brittle. This leads to a variety of life-changing disabilities. Patients develop early onset osteoarthritis, which can destroy every joint in the body. One patient describes how "it feels as if your bones are wrapped in barbed wire". The immobilising nature of the disease can lead to social isolation, unemployment, and chronic pain. More serious conditions such as heart disease can also form because of the hardening of tissue around the heart. The AKU Society works to improve the lives of patients and those who support them, whilst researching for a cure. About the AKU Societ Founded in 2003, the AKU Society offers life-changing support to patients and their families. It provides patients with personalised care and home visits, along with the latest information from specialist workshops, our new website, social media and online patient communities. The AKU Society also pioneers ground-breaking research into the disease, including a European-wide clinical trial into a drug called nitisinone which finished earlier this year and the exploration of future innovative therapies. The AKU Society sees a future where no one born with AKU anywhere in the world has the symptoms of this disease. Through patient support, community building and medical research, the AKU Society aims to truly transform the lives of AKU patients. Contact: Ciarán Scott, Head of Projects & Communications.
ciaran@akusociety.org  The RARE Rev culture by co-founder and creative director, Nicola Miller |
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If you have followed our RARE Revolution journey from the start, you will know that just like many who work in the field of rare disease, it wasn’t our Plan A. Both myself and Rebecca were busy in our respective careers when rare disease showed up and knocked us onto another path.
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Nicola co-founder and creative director and Rebecca CEO
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For any parent, finding or keeping that dream job, while allowing you to be the parent you want to be for your children can be challenging. Then add in the extra demands of raising a child or children with complex health needs and it doesn’t take a scientist to work out that on paper you start to look less favourable than other suitably qualified candidates. From attending multiple medical appointments, therapy sessions, lengthy school meetings and ever-changing health status to periods of illness—no two days are the same. The impact of this on your ability to perform your role and your overall career prospects can be significant. It certainly was in my case. (Ref RARE Employment, Issue 009, Autumn 2018. This wasn’t in the plan)
Of course, this is not just a barrier to career success for parents. It poses a challenge for young people living with rare and complex health conditions who are looking to enter the world of work, and those working hard to maintain a career. Your career progression ceiling may well feel determined by perceived limitations imposed by health.
Our RARE Rev dream was built on overthrowing this barrier. We created our own business model, on our terms which allows our rare families to thrive while we enjoy a rewarding career in a field we love, and where we can make a difference every day.
This is an ethos that runs through the veins of our growing organisation today, and four years in we are going from strength to strength. Providing opportunities and a workplace culture that is fully inclusive is fundamental to our operations and indeed success. To date we have a passionate and motivated team of six, and all have a close and personal connection with rare disease. This allows us to build our brand rooted in our personal connection and strong desire to serve a global community that our team are personally invested in. As a group we represent the voice of patients, care-givers, families and advocates and this deeply enriches our work.
From an employer’s perspective it isn’t without some challenge. This means managing deadlines and planning workflow capacity with an ‘expect the unexpected’ attitude. At any given moment one of our team could be facing a health crisis or that of their loved one, and this means that we need to be able to think and act in an agile way to respond to this.
This is only possible with a strong and committed team, who will without hesitation, swoop in to lend a hand when needed. We are blessed to have such a talented workforce who can turn their hand to almost anything we throw at them, but that is not by default. Recruiting the right people is key. Our recruitment process is driven by identifying people who will strengthen our work family unit both in the varied skills they can bring, but also in their attitude, resilience, and empathy for others around them.
We work as a team and to coin a popular phase at the moment, “No troll left behind”—in short we work together to get the whole team over the finish line every day, week and month. Our challenges are shared, and our successes are all the sweeter for it!
It is reported that Albert Einstein said this, although I believe the jury is still out on whether he actually did, but regardless it’s a saying I love.
Everyone is a genius. But if you judge a fish by its ability to climb a tree, it will live its whole life believing that it is stupid.
The simple truth is, there is no `one size fits all` model for employment. Furthermore, life is an ever-moving juggernaut, so what works for a valued team member today may not do so always. As an employer it is your responsibility to find the zone of genius in each member of your team, so that the work they are doing allows them to shine and be the best they can be. After all, aren’t we all better at doing things that excite us?
As an employer we get immense satisfaction from seeing our team, individually and together, rise-up and accomplish great things in the name of RARE Revolution!
In return, our commitment to our team is one of endless support, appreciation and reassurance that if and when their personal rare road ahead gets rocky, they can count on us to be there to help them through it.
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We had the pleasure of chatting with Inspector David Singleton for our RARE Employment campaign which aims to highlight and address some of the issues people living with a rare disease or disability might encounter in the world of employment. David shares his coping strategies for managing his health and a career change in the Metropolitan Police after being diagnosed in his late twenties with the rare genetic condition: Adrenomyeloneuropathy (AMN). AMN is an 'inherited condition that affects the spinal cord and is a form of X-linked adrenoleukodystrophy.
For more information about the condition please go to The Genetic and Rare Diseases Information Center using the button below.
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David Singleton -Inspector in charge of operational support, events and business |
My dad was in the police for over thirty years and my mum was as well for a shorter time in the seventies. It was something I always wanted to do it seemed like an exciting job with lots of different opportunities and I wanted to make a difference, which you can do in this job. I joined in 2006 when I was 24 and now my role is an inspector in charge of operational support, events and business.
My team supports the operational officers on a BCU, which is a command unit in the Metropolitan Police (Met). We make sure there are the right resources and right number of people on the right shifts and if there are organised events we make sure we have the extra resources and equipment required. We carry out the background work for local and bigger events in London making sure everything is safe and secure, which is quite a big logistical task when you are still managing all the day to day tasks - it can be a bit of a juggling act.
My team supports the operational officers on a BCU, which is a command unit in the Metropolitan Police (Met). We make sure there are the right resources and right number of people on the right shifts and if there are organised events we make sure we have the extra resources and equipment required. We carry out the background work for local and bigger events in London making sure everything is safe and secure, which is quite a big logistical task when you are still managing all the day to day tasks - it can be a bit of a juggling act.
I had to change my focus quite a lot. I was put in an office-based role and I hadn’t really thought about promotion much at that point in my career but this changed and I had to start thinking about what I could do now
Yes, when I started having symptoms in my late 20’s I hadn’t been in the police for that long, I was a neighbourhood officer so I would be out on patrol every day, riding a bike, driving a car or walking around. I was still fairly early on in my career. I did have aspirations, I was interested in the armed response side of things so as the symptoms progressed and it became clear that I would be taken off front line duties (which is what happens when you aren’t fully physically fit), I had to change my focus quite a lot. I was put in an office-based role and I hadn’t really thought about promotion much at that point in my career, but this changed and I had to start thinking about what I could do now.
It was quite difficult re adjusting to the different role as I liked being outside and being independent and proactive in my work. Being taken away from that, and put straight into an office role, was a big adjustment. Having my driving permit taken away and seeing my team go out without me were particularly difficult. I found the time of the 2011 London riots a difficult time. During the riots I was at the police rehab centre, so there I was having a massage, whilst watching where I work on fire and in chaos! Although dangerous and scary that was why I joined the police, because I wanted to try and stop these situations so it was quite emotional not to be helping in the efforts.
I didn’t know I had AMN until my symptoms started in adulthood when I started tripping over randomly, so I was dealing with a new and worrying diagnosis and at the same time a shift in my career path. However, I am lucky that there is a vast variety of jobs in the Met and that I could still stay in my chosen career.
It was quite difficult re adjusting to the different role as I liked being outside and being independent and proactive in my work. Being taken away from that, and put straight into an office role, was a big adjustment. Having my driving permit taken away and seeing my team go out without me were particularly difficult. I found the time of the 2011 London riots a difficult time. During the riots I was at the police rehab centre, so there I was having a massage, whilst watching where I work on fire and in chaos! Although dangerous and scary that was why I joined the police, because I wanted to try and stop these situations so it was quite emotional not to be helping in the efforts.
I didn’t know I had AMN until my symptoms started in adulthood when I started tripping over randomly, so I was dealing with a new and worrying diagnosis and at the same time a shift in my career path. However, I am lucky that there is a vast variety of jobs in the Met and that I could still stay in my chosen career.
Personally, I have always had really good line managers and have always felt supported, especially during the time when my diagnosis was uncertain. The Met gave me the time and space to adapt when I was first struggling with walking - there was no pressure,
Inevitably the opportunities are less in the job I do because a lot of it requires a physical element but although it closed some doors it opened up others that I potentially wouldn’t have thought about before. There has been positives and negatives but being proactive in saying what I wanted helped them to provide support to achieve this.
Inevitably the opportunities are less in the job I do because a lot of it requires a physical element but although it closed some doors it opened up others that I potentially wouldn’t have thought about before. There has been positives and negatives but being proactive in saying what I wanted helped them to provide support to achieve this.
It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is ....
From my experience when there is nothing wrong with you, you feel invincible and asking for special things can be viewed as a sign of weakness, but actually when you do need something there is no point suffering in silence, you will do a better job in the long run if you ask for help. It takes a while to change that mindset but it is for the best.
Managers might be really supportive and want the best for you, but they might not know how to, so help them understand by opening up about what is best for you. It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is .... There are laws in place for these areas and it is reasonable to ask for a special piece of equipment that will mean you can make just as positive a contribution to the work place as anyone else.
For me it was important to continue working for my independence and mental health, this won't be possible for everyone but don't be put off too soon, stay positive and don’t be afraid to ask for support or adjustments.
Managers might be really supportive and want the best for you, but they might not know how to, so help them understand by opening up about what is best for you. It's all about reasonable adjustments, don’t rule yourself out, go for the job and say what I need is .... There are laws in place for these areas and it is reasonable to ask for a special piece of equipment that will mean you can make just as positive a contribution to the work place as anyone else.
For me it was important to continue working for my independence and mental health, this won't be possible for everyone but don't be put off too soon, stay positive and don’t be afraid to ask for support or adjustments.
If you are quite young, school leaving age, there is a volunteer police cadet program which you can join. You might go and help out at events and it gives you a taster of what to expect.
Don’t assume that having a condition rule's you out from front line policing there are things you can do; you don’t have to be in perfect health and they want a representative police force which includes disabilities. If your condition does mean you can't join as a front line officer but you really want a career in the police force there lots of great roles that get involved in the nuts and bolts of police work.
Don’t assume that having a condition rule's you out from front line policing there are things you can do; you don’t have to be in perfect health and they want a representative police force which includes disabilities. If your condition does mean you can't join as a front line officer but you really want a career in the police force there lots of great roles that get involved in the nuts and bolts of police work.
Click the button below to find out more about volunteer programs
I have felt awkward about this, more at the start and I definitely tried to cover up my symptoms early on. I didn’t want it to affect me at work and I didn't want to tell anyone until I knew what it was but that was probably a bad idea as I could have got myself hurt, I remember riding my bike around at work and my balance was off, so there came a point when I had to accept that there was something going on.
In terms of time off I have always felt supported, I have never been one to take time off for no good reason and I think it is important to tell your managers when you have appointments. I am part of a drugs trial at the moment and we do get disability related leave which is essentially a day off that isn’t a sick day. I do try and make my appointments at the beginning of the day or at the end if I have a choice rather than slap bang in the middle so there is a bit of compromise and I use my common sense to make it work.
I have fallen into the trap of "Ok I have been out for a few hours, I will get the laptop out and do a load of work tonight" because I felt guilty that I wasn't doing enough. But I have learned that this isn't a healthy habit to get into. Give yourself a bit of a break, you aren’t missing work because you want to skive off, it's for your health and ultimately, in the long run, you are much better off being healthier than you are spending those extra few hours working. In my role now, it is easier as I do have flexibility in my hours.
In terms of time off I have always felt supported, I have never been one to take time off for no good reason and I think it is important to tell your managers when you have appointments. I am part of a drugs trial at the moment and we do get disability related leave which is essentially a day off that isn’t a sick day. I do try and make my appointments at the beginning of the day or at the end if I have a choice rather than slap bang in the middle so there is a bit of compromise and I use my common sense to make it work.
I have fallen into the trap of "Ok I have been out for a few hours, I will get the laptop out and do a load of work tonight" because I felt guilty that I wasn't doing enough. But I have learned that this isn't a healthy habit to get into. Give yourself a bit of a break, you aren’t missing work because you want to skive off, it's for your health and ultimately, in the long run, you are much better off being healthier than you are spending those extra few hours working. In my role now, it is easier as I do have flexibility in my hours.
Yes, so historically the police service hasn’t had much working from home just because of the nature of the work, but having this forced upon us has actually showed that you can be productive at home and run a team effectively. This experience has proven it doesn’t need to be seen as a negative, working from home is not a day off you can still be productive and in fact sometimes be more productive than you can in the office.
I do miss being in the office a bit, we use Microsoft teams which helps keep us connected, but I do miss the social interactions. If you are going to take some positives out of coronavirus. I think I have certainly benefited from it making working from home more acceptable.
I do miss being in the office a bit, we use Microsoft teams which helps keep us connected, but I do miss the social interactions. If you are going to take some positives out of coronavirus. I think I have certainly benefited from it making working from home more acceptable.
In terms of my condition it is a bit different as I didn’t know I had it when I was younger, if I had I would say, don’t see it as something that will stop you. Everyone has skills and something that they can bring to the work place, actually dealing with a rare condition probably makes you a bit more resilient as a person and that is a positive attribute.
If you are interested in something early on, even before you are ready to make a career move, speak to people in that world. If you can do volunteer work or anything that shows you are willing. It might be that you volunteer a couple of days and you think actually that is not for me at all, then you know that before you put yourself through the whole recruitment process. Obviously, that is not possible for everything, if you want to be a pilot you can’t ask "can I have a go on your plane please?", but there are still people you can speak to.
If you are interested in something early on, even before you are ready to make a career move, speak to people in that world. If you can do volunteer work or anything that shows you are willing. It might be that you volunteer a couple of days and you think actually that is not for me at all, then you know that before you put yourself through the whole recruitment process. Obviously, that is not possible for everything, if you want to be a pilot you can’t ask "can I have a go on your plane please?", but there are still people you can speak to.
If you are going to be productive at work you have got to look after yourself. If you need an appointment go and have it. Don’t hold of looking after yourself because ultimately your health is the most important thing. Don’t be afraid to go to your line management if there is an issue, they are there to help, it is difficult because you don’t want to feel as if you are causing a nuisance but actually you are not and it is better to get things out in the open and sorted as early as you can. I know its easier said than done, look after yourself, eat well, sleep well. It is different for everyone but you have to do what makes you happy and what makes you feel good about yourself and have a bit of time away from work.
David and his two sons
For more RARE Employee Advice and Top Tips ....
 | Landing your dream job when living with a rare disease, or with care-giver responsibilities can be daunting and arduous. Our RARE Revolutionaries community have a wealth of experience to share on this matter, and here are their top tips for getting and keeping that dream role. The following "TOP TIPS" have been collated from the experiences of David Rose, Daisy Marriott and David Singleton. Huge thanks to them for their valuable insights. Click on the image for the PDF |
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For more insights into employment and rare disease why not check out Professional careers and rare disease - finding a balance that works by David Rose
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