I was born in 1975 & straight away my extreme overgrowth condition was visible with my lower limbs being at least 4-5 times larger & a club foot. I wasn’t expected to live more than 2 weeks, during which time my mum wasn’t even allowed to see me!
My early years did involve several visits to specialists in different areas, vascular, plastic & orthopaedic surgeons. However, they’d never seen a child that looked as I did so they came to the loose conclusion when I was 2 that my condition was lymphedema. Although knowing what we do now, this could never have been the case. I led a relatively normal, happy childhood & teenage years despite the suggestion of amputation at 7 years old, which my parents refused as the doctors indicated that I would not survive the operation!
In the early 90’s I was finding attending university & living on my own becoming increasingly difficult so I deferred for a year & went ahead with Liposuction of my larger left leg. Sadly this turned out to be a big mistake as my weight doubled due to inactivity after the operation. However, that didn’t stop me from going back to university & gaining a Degree in Psychology.
Not long after when I was in my late 20’s / early 30’s my health particularly my mobility began to suffer again. What I didn’t know was that I have a blood disorder called Protein S Deficiency & this caused me to suffer a spinal stroke & paralysis. As well as other health issues such as kidney problems, MRSA etc. plus my legs were still growing uncontrollably. I did manage to learn to walk again, think I have had to do that 3 times over my lifetime.
During these years I also had an open wound on my left foot that would just not heal due to constant cellulitis & I subsequently developed Sepsis. This led to an emergency amputation of my left leg in 2010 which I feel very lucky to have survived.
I knew then that I needed to know more about my condition & my initial search led to possibly having Proteus syndrome. Also media companies had become aware of me at this time & I appeared in several newspapers, magazines & TV shows around the world.
In 2012 thanks to the TV production company, I was put in touch with doctors at Addenbrookes in Cambridge who arranged DNA sequencing. Subsequently, I was the first person to be found with my particular mutation in the PIK3CA gene. This was before it became known as PROS.
Soon after, they discovered that the drug Sirolimus 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 & I had no choice but to stop & subsequently this led to my overgrowth growing rapidly.
In 2022 I started Alpelisib, thanks to specialised funding. This worked well for 18 months but the side effects became too much, especially the gastro issues & my quality of life was being so severely affected, to the extent that I could not even leave home. So again I had no choice but to stop this.
Again my legs started to grow, but the years have allowed me to learn so much more about my condition. Particularly for me, that my affected area acts very much like a cancer when it comes to food, in terms of sugar & carbs making them grow more quickly. So I have found that a Keto diet (low sugar & carbs) can help, I’ve been on this for a couple of years now, it doesn’t fully control my overgrowth but it helps.
However, I knew that needed more help. Unfortunately, I no longer had a PROS doctor to help & I tried several different avenues to no avail. Thankfully, I got back in touch with one of the doctors from Cambridge & I have now been back on Sirolomus for nearly a year. It isn’t sadly as effective as it was previously but it is my only option for now.
Frustratingly, my pain has increased since I stopped Alpelisib & as I am getting older I am finding it increasingly difficult to move around & live my life. The weight of my remaining leg & foot is becoming quite cumbersome so I am looking to see what, if any, further options are available to me.