Recent Health Information
In 2012 I finally received a diagnosis for my condition.
It is a single letter mutation in the PIK3CA gene.
This has caused the overgrowth in my legs & foot.
I was the first person in the world to be discovered with this particular gene mutation, something that I am very proud to say.
All this was down to two amazing doctors, Professor Semple & Dr Parker, who took the time to research my condition.
Subsequently they were able to offer me treatment in the form of a tablet called Sirolimus that has amazingly started to shrink the fatty tissue in my legs & foot.
Since I started treatment in 2012 I had lost around 5 stone, this is mainly from my effected areas of my legs & foot, plus no side effects of any significance which is always a bonus.
I noticed in early 2018 that my weight had become static & I was slowly in the following months starting to put a little weight back on again.
I also had recurring pressure sores which meant that I had to stop taking the Rapamycin, as my immune system was being effected so any wounds would not heal.
Once healed the big question was, do I start up the Rapamycin again at a higher dose & increase the risk of further sores. Or do I look for an alternative? Or not take anything & let me body become used to the lack of Rapamycin & then try it again once I had a break.
It is now mid 2019 & I was hoping to take part in a drug trial, but sadly that has fallen through. So now I am looking at possibly going back on the Rapamycin as my weight is increasing.