This phenomenal testimony has been written by a young woman who spent six months off Vimizim. Please read her story here.
From sitting out of the most basic of physical activities during my childhood to spending a few hours on the weekend with school friends, I would often experience fatigue and pain, after walking short distances. More often than not, this led to many hurtful things being said to me, as it was not easy to explain away that I suffered from a physically debilitating and exhausting condition. Children, and even adults, can be most hurtful. This alienation shows that Morquio’s syndrome affects its sufferers far more than the physical pain experienced as symptoms of the progressive disorder.
Before the start of university, my physical condition had weakened to the point where all of my joints were affected, although my neck, fingers, wrists, knees and hips were more affected than the other areas of my body. I carried medium loads with difficulty, and my mobility was severely limited. I used the help of special shoes and when my pain was worse, walking aids. I became short of breath quite quickly and moved very slow. My eyesight was corrected with glasses, and I was sensitive to light. Everyday activities became increasingly difficult and burdensome.
As my family and I reside in London, I had to think carefully about my future plans. Physical disability did not affect my ambitions; it did however restrict my options. Since I was not physically independent enough to move away from my support network, I studied BSc in Computer Science at a reputable London university. It was during this period that I heard about an enzyme replacement therapy, which was in its infancy stages, for sufferers of Morquio’s Syndrome.
I was made aware of the potential risks, and benefits of taking part in the trial for this enzyme replacement therapy. I was aware that I would have to be able to attend a hospital appointment, all day, once a week, for a long time, and that balancing my undergraduate study would prove to be difficult. I was aware that there had been side effects to the drug, but I trusted the medical care I was under, to minimise the risk of these possible side effects. I chose to take part in this trial, as there was a chance that the progression of my condition could slow down. The benefits would prove to outweigh the negative side effects.
Having an older sibling, who also suffered from the same condition, made me aware that Morquio’s Syndrome could affect me in many ways in the future. In her, I saw a gradual debilitation of movement, mobility and health. It served as a constant reminder that, without medical intervention, my physical condition tomorrow would always be worse than it is today.
I started the trial of the drug that went on to be known as Vimizim, and although it took a while to balance my education alongside the weekly hospital visits, I progressed to my second year of university. After having my endurance tests as part of the Vimizim trial, I realised I was able to push myself a little extra than what I thought I could do.
Knowing that I would be receiving more work during the coming academic year, I decided to live in student halls of residence. I was still in close contact with my support network and could balance academia and my condition better. This together with the benefits from Vimizim, led to me progressing into my final year of undergraduate study, where I again chose to live in halls of residence. I found that I was able to push myself in living independently. Prior to taking Vimizim, I was taking a bus to get to different classes around campus, whereas by now, I could walk across campus with little effort. I could climb short staircases, whereas I was previously taking elevators, even if I was only travelling one floor. I could carry a textbook from the library, to my halls of residence, whereas prior to taking Vimizim I had to rely on a wheeled travel case to transport books to and from the library. I was no longer waking up multiple times in the night due to discomfort whilst sleeping. I could independently make meals, which required opening higher cupboards, and bending lower to use the oven. I was no longer planning outings by the distance of a venue from a bus stop or tube station, and visiting a supermarket was no longer leaving me fatigued for the rest of the day, and I could even attempt much larger shopping centres.
What may seem to the ordinary individual as normal day-to-day activities became my milestones and accomplishments. This is the instantaneous effect that Vimizim had in my life.
As my undergraduate degree came to an end, I needed to consider my future. I understood that taking part in the enzyme replacement therapy trial meant that any future employer would have to understand that there needed to be some flexibility in my working hours. My job search led to a software development company, and after giving assessed interviews, I managed to secure a job. My employers were very considerate, and understood that if I had managed to make it through university whilst taking part in the study, my working for them wouldn’t be a problem.
Before my last two months of university, I learnt that the drug had received marketing licence, and that the study was coming to end. I scheduled my final hospital visit to be in between two of my six final year exams. Shortly after, I received my university results, and was delighted to learn that I had managed to graduate with a First Class with Honours in Computer Science.
Shortly after leaving university, I started my new job. It has been over a year since I began this job, and I am enjoying the responsibilities and challenges I face here. I have been lucky enough to be rewarded for my hard work during appraisal meetings and I am looking forward to what the future has in store for me.
Prior to the enzyme replacement therapy, my timed walk test showed I was able to independently walk a total of 249.8 meters in six minutes. At my last walk test before the trial had come to an end, this number had dramatically improved to 335.2 meters in six minutes. This shows a dramatic improvement which is in line with all the changes I had felt in my improving health. I question my ability to have completed my undergraduate study to the standard I had without this treatment. I know going to a reputable university, and achieving a high standard of results can only help with employment opportunities, and without my health improving as it did while on the trial, it is doubtful that I would have ever had the courage to attempt living on my own at a reputable university and start my career as I have.
Six months after my final visit to receive the enzyme replacement therapy drug, I had noticed significant decline in my independence in performing everyday task. I decided to move back into my family home, since I needed more help, and I am fortunate enough to receive this help at home. I noticed that once again, visits to the local supermarkets left me fatigued for the rest of the day. I again planned my day and my activities according to what my body allows me to do with minimal discomfort.
I am fortunate enough to have extraordinary employers who have been incredibly understanding of my condition and have taken substantial steps to ensure I am working in a comfortable and safe environment, but I have found myself having to turn down work related lunches and outings, as locations can sometimes be a bit too far for me to walk from the office building. I am increasingly unable to lift small loads, and become short of breath whilst walking small stretches. These were milestones I had reached whilst on the enzyme replacement therapy trial, but after a short break, I now find myself held back from reaching them.
I conducted another walk test to find out how much of an effect, not being on Vimizim had on my mobility. I found that after six months of being off Vimizim, I was only able to walk 300 meters in six minutes. My walk tests showed that while on the drug, there had been an overall improvement in how much I could walk in six minutes of 85.4 meters. Given my last walk test result, whilst part of the trial, showed I was able to walk 335.2 meters, these results show that over 40% of the improvement I had seen in my mobility had worn off, having not taken Vimizim for six months.
A few months ago, I was contacted by the MPS Society with the news they were raising awareness about the campaign to get Vimizim available for sufferers of Morquio’s syndrome. I learnt that nationwide, other people who suffered from Morquio’s Syndrome and received Vimizim as part of the trial, were still receiving Vimizim. After a short struggle, I was put back on the treatment. It has only been a six months since I’ve been put back on treatment, and I already feel a difference. I notice I am able to do new things every day, and am meeting many physical milestones which would have been impossible without having taken Vimizim again. I feel a lot stronger. Most recently, I have noticed that I am able to independently sit on the floor, and stand up from sitting on the floor. I have also noticed that I am able to stand from a squatting position without using the aid of my arms to hold something for stability. To someone who doesn’t suffer from a mobility condition, or doesn’t know of anyone who suffers from a mobility condition, this may not seem like a big deal. However, this was a very big milestone for me, and something I have not been able to do for the past twelve years. All these small milestones I reach give me hope for a future where I will be able to do so much more. While my most recent walk test hasn’t shown a dramatic improvement in my mobility, the improvement is still there, and given that I have returned to regular treatment only a few months ago, the noticeable improvements in my mobility have been remarkable.
It is devastating for a sufferer of Morquio’s syndrome to hear about how Vimizim is in danger of being discontinued to be administered. I have spent a lot of my time on the treatment, and have managed to balance education, and building a career with the time I have given to receive the treatment. I wouldn’t have done this if the treatment had not been beneficial to me. Having seen the improvements in my own life, it saddens me to even think that others who have not been part of the trial won’t ever see the improvements I have seen in my health, given that there is no other treatment of this condition.
I have lived with Morquio’s syndrome all my life. I have been that child to sit out of activities while other children are able to, wondering why I was so different. I have been that child to wish I could walk alongside my friends. I have been that child to wonder why I looked so different to other children my age. Why couldn’t I be a similar height to them? Why did I walk so funny, in comparison to them? Why are they laughing at the way I walk, when I don’t have the power to change this about myself? What have I done wrong? Will everyone always see me this way? It breaks my heart to think that there are other children experiencing similar thoughts and experiences to this, and that they could see an improvement in their perception of themselves, if they could see an improvement in their health.
Aside from being a sufferer of Morquio’s syndrome, I have also been the sister of another sufferer. All my life, I have watched a gradual decline in my sister’s health. As a sibling this is a difficult thing to witness. My sister never let her physical condition stop her from living her life. She gained an education for herself and had two beautiful, healthy children. It was inspiring to me to witness how she managed to live her life given her condition, despite it being a daily struggle to manage.
Having two children who suffered from Morquio’s syndrome has been difficult for my parents too. No parent wants to see their child suffer and although my parents are my rock in life and are always there, whether they are supporting my recovery after a major operation, or are helping me carry something around the house, it is only natural for them to want to see me get better.
I have gone into detail statistically, about the ways in which Vimizim has had an impact on my life. However the benefits I have seen from Vimizim, cannot be restricted to quantitative data. I have reached milestones in my mobility, and have managed to build a life for myself by gaining an education and building a career, and it is doubtful whether this would have been possible without the strength, confidence and hope for the future that Vimizim has given me. Since being back on the treatment, I have received confirmation of my ability to progress in my career during appraisal meetings. This shows that Vimizim is compatible with everyday life, and a sufferer of Morquio’s syndrome, is fully capable of building a life and living the way ordinary people do.
I can’t say I’m ready to run marathons yet, but I am able to live my life, like any other 22 year old is able to, and I can only hope that this isn’t taken away from me, over something which isn’t in my power to control. Everyone should be given a chance to achieve their potential, and for suffers of Morquio’s syndrome, Vimizim is a step towards this.
I was taking the enzyme replacement therapy drug regularly for just over two years, and it was the best thing that has ever happened to me. I could accomplish the ordinary and for me, that was extraordinary. Increased physical independence and mobility is a pipe dream for Morquio’s Sufferers. But I lived that dream and I hope that many others are given the opportunity to do so.