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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.
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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.
What started out as vision of two sisters has become what feels like a little bit of magic and it is our absolute privilege to be steering this most incredible team towards our shared future vision.
#RARERevDreamTeam
So, if I could offer out any advice for employers, I would simply say; see no barriers, look within, and live your vision—a company manifesto means nothing if you can’t deliver it in practice and that is the true test of a company’s value and worth.
Achieving an inclusive workplace culture fit for our rare disease community takes passion and unwavering commitment to this when tested, but with steadfast belief, what lays on the other side is life affirming and enriching for all.
As part of our ongoing commitment to RARE Employment we are working on a very special initiative to help support our youth community into the workplace. Watch this space for breaking news coming soon…
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
