PROS (PIK3CA Related Overgrowth Spectrum) & Me
Ataxia is a Greek word for “Lack of Order”. Our mission is to bring some order with Ataxia awareness.
As part of the Ataxia Aware project we are sharing personal accounts of those with Ataxia or other rare conditions. We want to provide a safe space for people to talk about their experience with disability, whether themselves or someone close to them.
About me:
My name is Mandy, and I am 49 years old.
In 2012, I was one of the first people in the world to be diagnosed with my particular gene mutation in the PIK3CA growth pathway. It is now called PROS: PIK3CA Related Overgrowth Spectrum.
I am a huge tennis fan, love horror films, reading about real-life crime, visiting the theatre and immersing myself in live music when I can.
I currently run the U.K.-registered charity that I set up in 2017 called GoPI3Ks (Genetic Overgrowth PI3K Support). We support those worldwide who live with or are affected by PROS.
My Early Years:
I was born in 1975, and straight away my extreme overgrowth condition was visible in my lower limbs and feet, one which was a club foot that faced backwards. I wasn’t expected to live beyond two weeks, during which time my mum wasn’t even allowed to see me.
I was given the diagnosis of lymphedema when I was two. We always knew this wasn’t the condition I lived with, but there weren’t the medical advancements out there to make any further diagnoses.
I led a relatively normal, happy childhood and teenage years despite the suggestion of amputation at seven years old, which my parents refused, as my chance of survival was very slim.
Suffering Grew as I entered My Late 20s:
I was lucky enough, despite some physical limitations and health issues after school, to be able to attend university, where I gained a degree in psychology, and this led me to follow the path of counselling.
In my late 20’s/ early 30’s, my health, particularly my mobility, began to suffer. I suffered from a spinal stroke and paralysis, and I knew it was time to try to find an answer to what was happening. This proved difficult. Initially, I was diagnosed with Proteus Syndrome, but this was still in doubt as the leading expert wasn’t truly convinced this was correct.
Around this time, I had done fundraising for the Proteus Syndrome Foundation, and the media picked up my story. This led to appearances in various newspapers, magazines, and trips to various countries to talk about my life and unique condition. For anyone who might be interested or maybe wants a cure for their insomnia, there are some documentaries still available to watch on YouTube.
My Leg Amputation:
It was during this time that the infections I had been having in my left foot for 20+ years had become so severe that I was experiencing infections every two weeks for at least two years. This led to me developing sepsis in my left leg. I had thankfully been seeing a surgeon to look at the possibility of amputating my left leg, so when sepsis showed its ugly head, an emergency amputation was needed.
This was a very experimental amputation as the doctors had never seen anyone with my condition before. I remember my surgeon telling me how my blood vessels were the size of hose pipes, so to tie these off was extremely difficult. It took him and his team over nine hours, and he even had to draft extra staff to lift my leg whilst he cut it off. I was so convinced that I wasn’t going to survive that I made a will and said goodbye to loved ones. Thankfully, my surgeon saved my life, and I owe him a lifetime of gratitude.
The PIK3CA Gene
In 2012, thanks to a TV production company that had been following my unique story, doctors at Addenbrookes in Cambridge arranged DNA sequencing. Subsequently, I was the first person to be found with my particular mutation in the PIK3CA gene. This gene mutation is associated with various forms of cancer, but thankfully, it does not increase our chances of developing cancer. My condition has now become known as PROS (PIK3CA Related Overgrowth Spectrum), and this is an umbrella term for several conditions that sit within PROS: https://rarediseases.org/rarediseases/pik3ca-related-overgrowth-spectrum/
Soon after, they discovered that the drug Sirolimus (which is an anti-rejection drug used for kidney transplant patients) could possibly work to stop my overgrowth & even shrink it. I had great success with this drug for around 4/5 years, losing 5 stone mainly from my affected areas. Sadly, in 2018, this stopped working, and I had no choice but to stop taking the drug, which subsequently led to my overgrowth growing rapidly.
Setting Up My Charity- GoPI3Ks
It was also during this time that I set up a charity for those living with PROS, as there wasn’t any support in the UK. This is called GoPI3Ks, which is an acronym for Genetic Overgrowth PI3K Support.
We aim to support people financially- to help with those extra costs, such as providing wheelchairs, breathing equipment, help with mental health services and more.
We also provide information on doctors and current research. We recently held our first-ever dedicated family weekend where those living with PROS, adults, children and their families gathered with medical experts who gave several presentations on research, an overview of PROS, drug trials, etc.
Treatments and What I've Learnt
In 2022, I started on a new chemotherapy drug that is still to be approved in the U.K. called Alpelisib or Vijoice. It is known for treating those with PROS. This worked well for 18 months, and I lost around 4 stone in weight from my affected areas, but the side effects became too much, and my quality of life became so severely affected that I couldn’t even leave my home. So again, I had no choice but to stop.
So now I am at a stage where my legs have started to grow. This time around, I do know more about my condition and have found that a Keto diet can help, so I’ve been following this for a couple of years. However, it doesn’t fully control my overgrowth, so I’m desperately trying to get back on the old medication in the hope this can stop the growth in its tracks!
Treatment is still very limited to surgery or chemotherapy-type drugs. Not every treatment works for those living with PROS, and they all come with different side effects. We can all be affected differently, but there is always hope, and many children and adults are having some success with these.
Life is still very limiting for many, with the future unknown, but we are lucky to have some amazing doctors around the world who are dedicated to researching and finding new ways to treat PROS. The PROS community are externally grateful for this.
Finding Balance:
I have learnt over the years to find a balance in my life of having fun out and about when I can. But I also spend a lot of time in bed rest due to pressure sores that I have lived with for over 30 years, which can become infected quickly, so the balance in life is important. Frustratingly, my pain has increased since I stopped Alpelisib, so I’m hoping once I get back on the old medication, this will improve.
I'm Proud of Me
I want to say how proud and lucky I am to have been born with this unique condition. It has opened up so many doors in my life that wouldn’t have been possible, and for that, I will be forever grateful.
One of those was being able to set up the charity to help in a way that wasn’t available when I was growing up.
I always wanted a way to celebrate how proud I am to have PROS, so now I have 2 tattoos that I feel represent me. Will there be more? You never know!
Written by: Mandy Sellars
Edited by: Meg Elmer
We would like to thank Mandy for sharing her inspirational story with us. If you would also like to get involved and share your experience with Ataxia or another rare condition, please get in contact with us through our social media channels or our email.
If you would like to know more about Mandy Sellars, you can follow her personal X account: @mandysellars36 or Facebook: MandySellars.
If you’d like to know more about GoPI3KS, Mandy’s Charity, the website can be found at www.gopi3ks.com
Additionally, you can follow the charity on X and Instagram at: @gopi3ks