Wednesday, 1 June 2016

Overgrowth Syndrome

An Interview With Mandy Sellars:

What is your name and age?
Mandy Sellars and I'm 41

When were you diagnosed with Overgrowth Syndrome?
I have always had an overgrowth condition, but my final diagnosis of PROS was in 2012 that stands for (PIK Related Overgrowth Condition)

How was the diagnosis made?
The diagnosis was made through DNA sequencing and taking tissue samples from the effected and non effected areas.

What size are your shoes and trousers?
There isnt any size for them as they are too big to have a size.
Same with trousers, no size to them.

You were advised to have an amputation, what was your reaction?
I asked them for the amputation as I wanted it done as I was getting too many infections in my left leg and it was making me constantly ill.

Please tell me about the health issues you have suffered as a result?
Health issues I have suffered are cellulitis, pressure sores/ulcers and septicaemia, other than that I have been very lucky and not experienced any complications due to my overgrowth condition.

When you underwent the amputation, how much was taken away?
It was taken off above the knee to stop the infection from spreading.
I always wanted it above the knee anyway as it didnt work properly.

Please tell me about the trial drug you were prescribed and why?
The drug is Rapamycin, which is an anti rejection drug for people who have had kidney transplants.
It was suggested that the drug could block the constantly turned on signal in my mutated gene that tells the effected areas to grow....when they tried this in a culture dish it worked on my cells and subsequently it worked on me too and stopped the signal getting through to the faulty gene, meaning that the condition stopped growing and even started to shrink.

How has the condition affected your life in general?
The only way it has effected me is with my mobility, I cant get out and about like I would want to, but there are ways around this with help from friends, but that is the only thing that it has really effected for me, as I have been able to do the other things that i have wanted to in life.

What is your prognosis for the future?
The future is unknown, the doctors dont know the long term prognosis of taking the drug, so every day is a surprise I guess....But I will keep on taking it and see what the future holds....If I am able to lose more weight and then the mobilising will become easier then I hope to be able to get outside more than I currently can do...



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