What is Retinitis Pigmentosa (RP) to me?

February is Retinitis Pigmentosa Month so I thought it was a good time to talk about the condition behind my sight loss. I’ve never really discussed Retinitis Pigmentosa (RP) on the blog, so I’ll talk a little about what it is and what it means to be diagnosed with RP today, compared to what it meant when I was diagnosed more than 30 years ago.

What is Retinitis Pigmentosa?

I’m not a expert, so after some research, I’ve summarised my findings into a few digestible points below.

  • Retinitis Pigmentosa is the name given to a group of conditions called retinal dystrophies, where photoreceptors in the retina, responsible for detecting light do not work properly.
  • Rod cells which are found all over the retina except in the centre, detect low light and peripheral vision. With RP, these cells stop working first so people with RP often struggle to see at night and have tunnel vision. Cone cells are also found throughout the retina, but are most concentrated in the centre of the retina, the macula. These cells help with detailed vision and colour. These are the cells that survive the longest in people with RP and many will retain their central vision long after their peripheral vision is lost.
  • RP is an inherited condition. Dominant RP is often passed from parent to child. Recessive RP can be difficult to trace in some families and is known to affect someone with no apparent history of RP in their family.
  • The disorder is caused by a genetic mutation. More than 80 genes are known to be the cause of RP.
  • RP is degenerative, causing sight loss, commonly starting in the peripheral and eventually results in blindness. The rate and age at which vision deteriorates varies depending on the type of RP.
  • The prevalence of RP in the US and Europe is around 1 in 4000. It is considered very rare in children and rare in adults.
  • There is currently no effective treatment available for RP. However, recent years have seen an increase in research in this area and several potential therapies are being trialled.
  • Genetic counselling in RP patients determines which gene is responuble for their RP. This is crucial for the future, if a novel treatment is successful in its clinical trials and is potentially made available more widely.

A Diagnosis of RP 30 Years ago – what it meant

More than 30 years ago, I was too young to understand what my diagnosis of RP meant. As I grew up, I realised what it meant for my future. Firstly it meant I would lose my vision and there was no treatment, nor any sign of one on the horizon. So very little in terms of hope. Secondly, it meant society immediately lowered its expectations of me and what it believed I could do. My options had been restricted and my freedom to choose had been limited. I was fortunate that my parents never lowered their expections of me and their unwavering encouragement and high standards allowed me to live as I have. it was of course possible to lead a life of your own choosing with RP in that time, although sometimes it seemed to me like society had other ideas. Regardless, over the years I learned that RP is not all bad news!

How is RP different in 2021? Four areas of change

In some ways, how RP is managed has not changed at all in all those years. There is still no effective way to manage the symptoms or slow the vision loss. But a lot has changed. There are four areas where major changes have taken place.

1. Technology has made the world more accessible

Technology has moved on beyond anything we could have imagined and this has made the world so much more accessible to a person with low vision. From digital magnifiers and screen readers to smart home assistants and OrCams, technology really has changed the way blind and visually impaired people live.

2. Society is more inclusive

There is currently a slow but steady shift in mindset in terms of people’s differences, and although there is much work to be done, I feel like we are moving towards a more inclusive society. A more inclusive education system and inclusive workplaces, would open up more opportunities to blind and visually impaired people. There has been great progress in this area in the last 30 years and it’s important to keep talking and raising awaremess to cultivate a better world for our blind and visually impaired friends of the future.

3. The internet has given us a sense of community

The internet has allowed us to build more of a sense of community amongst blind and visually impaired people, where we can ask questions, share successes and support each other. Most importantly, we no longer have to feel so alone. With the exception of my brother, I didn’t meet anyone else with a visual impairment until I was almost 20 years old. In some ways having RP could be pretty lonely and I feel encouraged that online communities are helping to minimize feelings of isolation that are too often associated with sight loss.

4. Potential treatments

As I mentioned earlier, there has been an increase in funding and research into potential treatments and therapies in recent years which in itself is very exciting for people like me. Potential treatments using gene therapy, targeting specific genetic mutations are being developed. There are a number in various phases of clinical trials, the results of which are encouraging.

What the four areas of change mean for an RP diagnosis today

Today, with the technology available, society becoming more inclusive, easier access to the support and comradeship and the increase in research into potential treatments, a diagnosis of RP is very different to what it was in the past. To anyone, particularly a young person who is diagnosed with RP today, I would say yes, RP is life changing, but it needn’t be limiting. RP just means we do things differently, but we have the tools to do that now.

As these four areas of change continue to move in the right direction, whatever it is that you want to do, whether it is unexpected, pioneering or seemingly humble or mundane, RP need not be a barrier to achieving it. An obstable, maybe, but with all the resources available to us today, we can find a way to work around it.

Blind people throughout history have done amazing things. They have been scientists, atheletes, entrepenures, politicuans, ballerinas, teachers and parents. They did these things when a diagnosis of RP meant something very different, something that might place restrictions on your life, put limits on your dreams and lower expectations for your future. So think about what we can do now we have the four areas of change working in our favour.

There is hope

In 2021, a diagnosis of RP means we have technological and emotional support in place to help you learn new skills to secure an independent, fulfilling future and the ability to work towards your ambitions. It is absolutely not an excuse to lower your standards for yourself and what you want to achieve. Because a diagnosis of RP today is not just about vision loss, it is about hope.

There’s hope as technology continues to improve our lives because we expect it will only get better and it will become easier to do more things without sight.

There’s hope as society evolves to embrace diversity because when we see glimpses of companies improving accessibility, equal opportunities in employment and awareness of vision loss increasing, we dare to hope that we are on an upward trajectory.

There’s hope as connecting with others with vision loss becomes easier, because connections not only reduce isolation, but hearing about other’s successes can inspire hope in our own lives and allow us to believe that we too can achieve our goals.

There’s hope in the development of potential treatments, because instead of being told that there is no cure for RP, we are now told there are people working on it and there is likely to be a cure in the future. That is a huge difference.

There is choice

One of the things I found difficult as my sight deteriorated, was the loss of control that came with it. Sometimes having sight loss in a sighted world, is like being a square peg trying to fit into a round hole and because that’s not possible, round pegs often call the shots. We can lose our independence and the freedom to make our own choices in many ways. The four areas of change mean we can start to shape the world around us, perhaps in some small ways to begin with. In time, instead of struggling to fit into what already exists, we can build a life to suit our needs, preserving our right to choose how we live.

Technology has made it easier to be more independent than ever. Screen readers mean more people can choose to stay in their chosen profession after blindness sets in. Smart home assistants help us to run our homes and cook for our families how we choose.

A more inclusive society allows us to choose how we wish to be perceived. What we do, how we look and what we are interested in, are becoming more of a choice as society leans away from stereotypes and begins to see beyond the blindness.

Online communities allow us to choose whether we want to connect with others with sight loss, when, how often and who specifically, we want to talk to.

None of us choose to have RP, and currently we can’t choose to not have it. One day we might have the choice to undergo a treatment which would cure RP. It may or may not happen in my lifetime, but in light of recent developments, I am starting to believe that one day, people with RP will have that choice.

Conclusion

So really, what I’m trying to say, perhaps rather clumsily, is there’s been no better time in history to be diagnosed with RP. If it happens today, get ready for a new kind of adventure. An adventure where you can expect hard work, moving goalposts and a very real need for resilience. It’ll also be an adventure where you can expect plenty of opportunities, rewarding experiences and the chance to build a life of happiness and fulfulment, whatever that means to you. Because being diagnosed with RP today means you still call the shots and in your future, you will be at the helm.

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