|Patient Stories & Experiences|
My name is Mandy Powell I am 49 years of age,
I was born with an overgrowth condition in my right arm and shoulder. My first memory that I was different from other children was when I was 6 years of age, I was in Bishop Auckland General Hospital and was surrounded by about 7 doctors, one doctor was holding my arm outstretched and the other ones were taking amongst themselves about the puzzling and unusual case in-front of them. This scenario was to be repeated many times for many years.
Growing up with this condition affected me greatly, physically it was hard as my arm was growing at a rapid rate and nobody knew why, it was however the emotional battle that was harder, my clothes needed to be specially made in order to fit me.
Secondary school was a difficult time for many reasons, my uniform had to be adapted and therefore that made me stand out as different, bullying was a huge issue, but most of all no one knew what was wrong with me.
Different hospitals in different areas examined me but no name could be found for my condition and then the overgrowth started in my left leg,
In 2005 I had hit my lowest time and asked to be referred for amputation of my arm, the Orthopedic surgeon refused to do this and I was desperate.
It was a spur of the minute thought I emailed the programme 'This Morning' this was to be the best thing I could have done.
The telephone rang and the voice on the end said, "Hi my name is Emily Kelly" I am calling from 'This Morning'
Emily was to be the start of my new life she talked and supported me and for the first time I was able to talk about my condition and how i felt, something i had kept locked inside. I appeared on the show with Phillip Schofield and Fern Britton. Emily found me a Professor in London and St Oswald' s Hospice in Gosforth I now had a way forward. I know have an amazing surgeon in Scotlandwho has transformed my life and have been having tests done by Dr Semple and Doctor Parker, no diagnosis has been found as yet but I know now that I am at last in good hands and no matter how long it takes Doctor Semple and Doctor Parker will find out what it is
Hi, my name is Laura and I live in Rhondda South Wales with my husband Lee and my 2 sons Jaydan (9) and Alex (6)
I found out I was pregnant at a young age and it was a shock. The pregnancy went well apart from the sickness for 9 months. Jaydan was born 5 days late on 30th May. I don't remember much about the birth apart from it being quick and Lee saying Jaydan had a bad foot. I didn't care I was so happy my baby was safe and healthy.
We were kept in hospital for 10 days in that time doctors would come in and examine Jaydan and walk back out. I will always remember the doctor that came in and told me that my son will never walk. I sat there and cried and thought who cares he's my son!
If I am honest the 1st year of Jaydan life still reminds a blur as I suffered severe post natal depression. When I took Jaydan out in pram I remember some people would make comments 'Look at that babies foot'. I don't notice people staring anymore I just block them out, but Jaydan notices now. I would like people to ask!
Jaydan was 6 months when we had appointment at local hospital. At the time we were told nothing we can do just wait. The turning point was when my mother was at a family funeral (great aunty) it was there she noticed a picture of a child with enlarged digits it was then we got transferred to Great Ormand Street Hospital, London.
Jaydan was 7-8mths when he had his first operation. This was also a blur to me I can remember being scared and upset but extremely grateful of support from family and friends and to this day I can not thank people enough for support and help.
I think we are now on the 11th operation to be honest I have lost count. After the 1st operation the fatty tissue spread up Jaydan's leg to his left hip bone. Many of the operations have been debulking of tissue on the sole of foot, amputation of 4 toes, liposuction on leg (didn't work), pins in his knee, pins adjusted and pins out (this slows down growth as his left leg is longer than right).
Jaydan is 10 in 2 weeks, its been hard at times. However I wouldn't change him for anything this is who Jaydan is and I want him to be proud. He is brave, caring and helpful. I will always encourage him not to let his leg hold him back, but has his good and bad days.
People sometimes ask me how I cope. The reply is easy he is the same as any other child and you have to stay strong. I am slowly learning its ok to be scared and upset. In future there are a number of operations already planned and challenges ahead. However with love and support we will overcome them and stay strong together.
I want the same as any other parent my children to be happy.
Thanks for reading my story
Hi, I'm Jaydan, I have a little brother called Alex.
I like Lego and Minecraft. I enjoy playing computer games on the Xbox and PlayStation. I am learning to play the guitar. I like spiders and I have 3 pet spiders that I look after. My favourite lesson is Art I love to design and create. I like Marvel and DC superheroes and enjoy watching films I love going to the cinema and eating popcorn.
Sometimes I feel worried that people say mean things to me. I get scared when I need to have operations. I sometimes feel that no one understands because they don't have a bad leg and foot. I get annoyed when clothes don't fit me because my leg is big I need to wear big clothes to fit my leg and always have to try clothes on. Also I need to have my shoes made and I get upset that I can wear the same as my friends.
When I grow up I would like to design computer games :)
When I was born in 1975 it was clear that there was something wrong, my upper body was incredible thin but my legs and feet were 3 or 4 times larger than the average baby.
The doctors did not expect me to live beyond 2 weeks, yet I did and am still going strong after 40 years.
Throughout my life doctors didn’t know what my condition was and Lympeodema was all that was suggested, however, I knew when I got older that this couldn’t possibly be what I had. After searching for answers, Proteus Syndrome was suggested as a possibility, although if it was Proteus, it was a rare form of this.
After various medical problems which led in 2010 to the amputation of my left leg my legs still continued to grow and my stump increased in size to 112cms in circumference at its largest and life was heading in one direction and that was to become bedridden one day.
I was lucky enough in 2011 to be put in touch with Dr Semple & Dr Parker at Addenbrokes in Cambridge. After a year or so of research the day came that I had never thought would happen in my lifetime, they had actually found what has caused my condition.
I was the first person in the world to be found with this particular single letter mutation in PIK3CA gene, something which I feel very proud to say. Following this and further research it was suggested that I try the drug Rapamycin, predominately used as an anti rejection drug for kidney transplant patients.
However, testing in the lab showed that it stopped the signal that told my affected area to grow from getting through to my faulty gene, suggesting that my overgrowth would stop and there may even be a possibility of the affected area shrinking.
After taking the drug now for 3 years or so I am happy to say that my legs and foot have shrunk to the extent that I have lost around 5 stone!
I am finding moving around so much easier now, of course it will never be easy and I am still fighting to regain my independence that value more than anything, apart from my health of course. I know that one day I will achieve this and I will be able to go out on my own again.
In the meantime I keep busy with online studying and voluntary work in and outside of home with a little help from my amazing friends.
This drug is an amazing breakthrough and hopefully it is something that will help others in a similar position to myself to change their life, just like mine has been with the help of Dr Semple and Dr Parker.
I’m James Vincent, 32 and I Live in a small village near Cardiff. So this is how I have been diagnosed with Proteus syndrome. Growing up with it. The physical & mental challenges. Other suggestions on what I have and finally PROS-Segmental overgrowth diagnosis.
At the age of 5, my parents took me to Great Ormond St: Hospital in London. We needed to find out why various parts of my body were overgrown. From birth it showed completely throughout, but mainly affecting my left leg with quite a big difference in those early years. Also, my right leg was shorter to the point I needed my one shoe built up. I don’t remember that, but by the time I was maybe around 7 years old, the length had caught up with my left leg but the size of my right leg had stayed how it was. Unaffected by the overgrowth. Well, at least size wise anyway.
During those first five years we didn’t have anyone that we could go to to ask questions and we didn’t know anyone else with overgrowth. So my parents felt going to London was something we needed to do.
I don’t remember much of that week in Great Ormond street. Only that I hated it. I sat through many different tests and there were lots of other children also with different disorders. [I’m using ‘disorder’ as I don’t like the word ‘disease’ & ‘condition’ doesn’t seem right]
At the end of it all the best that the doctors could come up with was Proteus Syndrome. Leaving us with that, they just sent us on our way as there was no community to go to for support. So that’s what we settled with and that’s what my parents lived with. The uncertainty and not knowing of what could come.
Proteus is a progressive disorder that grows out of control at a much faster pace than the unaffected parts of the body. It is mostly bone affected, but can be tissue too. This often results in the need for surgery multiple times, to keep cutting back the extreme overgrown parts which in the end my lead to amputation as the best option to save the patient of severe distress in the long run. Or something even worse.
At this point I should point out that this has impacted my mobility more than anything. With the distance I’m able to walk decreasing through the years, the last four years is where I’ve seen the biggest change. I’ve been silently preparing myself mentally for where I could be with this in 5 to 10 years’ time.
Also the pain that I’m living with in my right leg on a daily basis is much more. It leaves me wondering what options I’ll be left with in the future as painkillers are now almost un-affective.
Doctors insisted on monitoring me from a young age as they feared that this overgrowth could kill me before my teenage years, as proteus is known to be a killer. So there were many regular hospital visits each year for various things, which continued well into my teenage years. These were to check my internal organs like lungs, kidney and whatever else were not growing at a faster rate than what they should be. The dreaded hearing tests became regular also as sometimes I can’t hear, but this is due to the tubes [the ones connecting Ear, nose, throat] as when breathing in and out, our tubes open and close but mine can’t always do that due to them being larger. But again that’s something many doctors didn’t understand and many still don’t.
We also had to monitor my varicose veins in both legs, size of my legs, what difficulties the physical side of things brought and how the overgrowth was progressing. The pain that they brought was generally forgotten about on these visits so was never really taken into much consideration by the doctors & consultants. So that’s what most of the visits consisted of. Mostly to the University Hospital of Wales [UHW].
What we did know is that the bigger parts, the leg, fingers, toes, ear etc… were growing steadily, at the same rate as the non-affected parts.
Which was showing this is not typical Proteus because it was not ‘progressive’. But again, no one could tell us anything else.
My facial features look fine and no one would notice anything different unless I point them out as they have smaller differences. Hands and fingers look different, but not by much. It’s what isn’t visible to people is where things change and the complexity of it all shows.
But as mum always said… I’m one of the lucky ones.
In one way I suppose I am. Though this didn’t stop it from feeling incredibly hard at times and isolating.
High school presented itself as the most challenging. Emotionally more than anything. With not being able to take part in most P.E activities, some teachers not understanding why I couldn’t run or join in a game of basketball, rounders or anything that required plenty of energy. I eventually stopped attempting to join in to do what I could in a game as there was only frustration and insults from other class members due to the risk of the other teams winning.
Looking different, not being able to walk far, finding stairs hard some days, seemed to be not good enough for the other teenagers. Because if teenagers don’t know or don’t understand then they throw judgement. Whether it be comments, looks, torment or even just sheer hate shown from the odd few. All this made me develop many insecurities that I’ve fought over the years, mostly on my physical looks.
Confidence, trust, showing my legs, talking about my overgrowth, taking up some new opportunities, things like that. I’ve managed to get on top of them, but sometimes I still feel them.
I did have support, patience and good times from a few classmates, my little circle of friends, but that didn’t take away the upset and most of all isolation. On top of my own personal life with things like hospital visits, daily difficulties, I had to deal with school.
Around the age of 19, mum and I were put in contact with the PSF, [Proteus Syndrome Foundation]. This is Tracey Whitewood-Neal’s charity. Tracey set this up as her son Jordan, has ‘typical’ progressive proteus. Tracey has been very supportive over the years to everyone who joins the charity and attends the family gatherings.
I met Dr Leslie Biesecker, a specialist in Proteus, from America at the first family meeting myself and mum attended in Kent. I was about 19/20. All I remember from those two days is that he took one look at me and said, ‘You don’t have proteus’. Part of me expected that, but it still left me feeling disappointed and confused. He told me I may have HHML - Hemi Hype Multiple Liptocious. Hemi meaning half. I can’t remember the breakdown of the rest. But it was getting closer, though this was still some sort of guess. We left it on doctors’ notes as Proteus as we didn’t want to cause confusion.
Since then I needed to find someone to give me a solid answer. That was my mission!
Two years later we attended the next family weekend. This was when Dr Biesecker threw ‘HHP - Hemi Hyper Plaisir’ at me. Basically the same thing. But more acronyms was just confusing.
The years went on, we attended the family weekends, but I still very much felt that I was on my own in this and the isolation remained.
Even though Tracey told us we have support from her anytime we wanted, we only spoke and saw each other and the other families at these meetings. With no social media to connect people back then, hardly many email addresses, just maybe a phone number. But what was I supposed to say if I did call someone?
As I was going through my 20s I battled with the physical appearance of my body the most and always feeling judged by it, to trust someone not to do that was not possible.
I needed to find my inner peace to become happy in my skin, but that I didn’t know how to do. Though comments and looks were sometimes passed my way, usually by kids or a few college students for a short time [college was generally rather enjoyable]. Some even by family members. I would hide my legs, never wearing shorts and not wanting to go anywhere hot for holiday. Always wearing a t-shirt as I have some patches of pink markings above my waist line. I felt like I should continue to hide myself away. Not seeing any point in talking to anyone about it as there wasn’t and still isn’t anyone who actually ‘really does’ understand. I just kept silent and didn’t mention anything to anyone.
After many years of debating and getting upset with myself, also feeling incredibly frustrated that other people were doing things I wanted to do, like swimming and going on holiday. I forced myself to change my attitude and turn my confidence issues around. I decided that if I wasn’t good enough for someone, then I didn’t need to know that person. I needed to surround myself with positive supportive people.
My peace with myself eventually came, I was 27. I can’t tell you how exactly, but I finally felt comfortable in my own skin. I learnt that this is me. I had to be happy in life and only I could make that choice. We ourselves choose if we are to be happy or sad. No one else.
Feeling happy that I found some sense of peace, I thought life could be easier for me. But there was something else showing more by my
mid-20s. I just chose to ignore it.
My varicose veins were putting more pressure on the surface of my legs.
The pain was sharper and more often. Walking was much more of a challenge. I knew what I should have done when I was 18, but as a teenager who wanted to be the kid that fitted in with the others without limitations, I was stubborn.
At the age of 26 I gave in and was referred to a department in the NHS that makes knee high length compression socks. Even though they are extremely tight, they are designed to ease pressure on the legs and keep one standing a while longer.
They have helped greatly and we have also seen a reduction in the amount of fluid in my legs. Without these my left leg would be much worse off and my right just wouldn’t be capable of anything.
This is my sixth year with them now, having new ones every six months.
But I still hate them. They aren’t designed for comfort but do need some sort of comfort fitting to sit right, if they don’t sit or fit correctly then they can cut into me which is very unpleasant. When I first got them I took it for granted that they would solve the pain issues I had. But they weren’t designed for that.
I’m still not comfortable within myself having them but I’m not going to let that get on top of me. I’m forcing myself just to get on with it and know that these are my aids for walking. They do the same job as crutches, walking frame and a false leg.
Upon receiving my first pair, it did set my confidence backwards but I knew I had to push on. Although on becoming happier within myself, I was self-conscious of these compression socks and kept it to myself for a while. I’ve eventually developed the courage to say what they are If anyone asks why. I’ve just got to show some confidence and make them understand.
As I was heading to my 30s I was still so desperate to know what am I really living with. Over the years, watching various documentaries with Jordan, Mandy and other people with different types of overgrowth. Part of me wished I could be the one someone was spending time and money on.
Then came February 2013. I had no idea things were going to change…
Mandy Sellars’ Shrinking my 17 Stone legs aired on TV. I always find it hard to watch these documentaries. So when possible I tend to watch them on my own. I finally watched it one Saturday night the following month in March.
I reached out to Mandy the following day on Twitter. We exchanged a few messages. I happened to mention that Proteus/HHP was guess work and I didn’t know what else to do.
Mandy asked for my email address to give it to Victoria Parker at Addenbrooke's Hospital, part of The University Hospital of Cambridge.
I said yes. Thinking will anything actually come of this?
The next morning I had an email from Victoria, introducing herself and explaining a little about what the team at Addenbrooke’s is all about and to arrange a phone call.
The next day on the Tuesday, we had that phone call. I explained the basics and talked in more detail about what is done there.
NHS England invests money into research for people with rare disorders and work with other charities around Britain with similar goals.
A week or two later I had a date for the 1st May to spend one night, two days there.
All this happened so fast before I realise that I had opened myself up to more tests. The thought of Great Ormond Street came back to me. But I quickly pushed that aside as I knew I had the reassurance that if there was any test I did not want to take part in I did not have to. But I’m the type of person that if I say I’ll do it and I’m there, I’ll have to because if I don’t, I’ll regret it all the way home.
During my first visit the team made me feel welcome and looked after me really well.
There were of course the blood tests but they quickly learnt not to show me the tools!
There was a glucose test. Down a pint of Lucozade then monitor my blood to see how I react to a quick intake. All fine there of course.
I had a tissue sample taken for ‘growing’ in the lab. This was to see if they could find the cause of my overgrowth and get some solid answers.
This was going to take quite a few months, so I knew I had to be patient.
There was a DXA scan. Think of that as being scanned and printed.
My skeleton, body fat, tissue, muscle. All laid out nicely on paper and colour coded.
That brought the first discovery. Not only did it show that I had overgrown tissue in my legs, mostly on the left leg.
But it was the fact that it showed me that my skeleton was not affected by the overgrowth. This was something which no one knew. My overgrowth has created much more tissue throughout my body.
After that I was left for a while in my room. I needed some quiet time as I found that I just cried for a while. I was here the other side of Britain with this new challenge and adventure. I was finally getting answers to the questions I’ve been so desperate to ask for so long. Though some part of me didn’t want to do this, after this discovery that changed.
I dried my eyes, put on that smile and continued with business.
There were a few other tests during my time there like the MRI scan [really didn’t realise how noisy those things are]. But the biggest and hardest one was saved till last.
As it’s a University hospital, just like my main one home here in Wales, there are students. I was asked if I could help them learn from me and I always do like to say yes, though face and identity would not be revealed.
It was all explained to me and I was all set to go.
I remember being in that waiting room with Victoria and one of the nurses. I think they could see that my nerves were on the ceiling.
Myself and Victoria went into the photography room. Even though Victoria could probably see at this point I was extremely hesitant, I knew I had to do this. I was helping people study overgrowth and learn from me. After all, they were helping me. I took off my clothes with just my boxers remaining on and the photographer took pictures of different parts of me. This would give the students a look at my type of overgrowth.
Feeling exposed and a little raw about how I was feeling I knew I had done good.
After returning home it took me a few days to come down from feeling poked and cut open!
During my second visit later that year, they needed another tissue sample. The first one didn’t have much of an affected area.
Then the news eventually came...
I had a phone call later in 2013, towards the end of the year.
Victoria called me with some good news. Well, sort of. ‘James you don’t have proteus syndrome’. She said
This time I knew it was real. But I waited for Victoria to say ‘but you do have this…’
That didn’t come. More time was needed.
It was quite some months that I felt I was just hanging. But I knew Victoria’s team were doing what they could. During that wait I had another visit, I was given all the details and kept up to date every step of the way. It didn’t take away some worry of what they could find.
I found it was a horrible feeling. This was something I had been waiting for and trying to prepare myself. But now it’s here, I didn’t know how to feel. I stuck to Proteus when talking about it to nurses and doctors as I didn’t want to say something I couldn’t give details on and was worried that an answer might not actually come.
For someone who’s always had a strong sense of faith in everything, I realised that I’d lost it here.
August 2014 finally came and Victoria called me to give me the details of what I really do have.
PIK3CA. It is the gene change in the 81st Amino Acid in the protein [E81K] in around 20% of my leg and back. [Seems more than 20% to me but can’t dispute science!] But it’s not in my blood.
Oh and it’s not inherited from the parents either.
I’m the second to be found in the UK with this gene change. [Mandy’s the first]
Those are the basics of the explanation.
The easiest way to put it is Segmental Overgrowth.
Meaning no pattern to it, just randomness.
So, finally. It took 31 years to find out what has caused my overgrowth. It is still just a bunch of acronyms, but there’s some explanation to it.
Myself and Mandy have the same gene change but are also very different. My change happened late in my developing stage, where Mandy’s gene changed right at the start of her development of life.
Although the feeling of isolation has always been with me, I have had some good talks with Mandy. She’s given me a smile after every conversation. I know she does understand how I feel
and on some level, I too know how she may feel at times.
I can’t describe how I feel through all this, with what the team at Addenbrooke's has done for me. All I can say is I’m grateful.
They sit and listen to me. They work hard. They made me feel important.
One more challenge lies ahead. Do I take part in the drugs trial to shrink my overgrown leg? I know it may change all overgrown parts too.
Will it work? What will happen if I stop taking the drugs?
Will the changes remain when I stop?
So many questions. If I do it’ll be the biggest leap of faith ever. I pray every day that I find the courage to take part.
So much to learn in 2016…
As I end this I’d like to say all is not lost. I am feeling a lot happier and comfortable in myself. I’ve taken up swimming and I wear those shorts on holiday.
There is support out there. Myself and Mandy have recently joined a new group set up by NHS England for Rare Diseases - Translational Research Collaboration, National Institute for Health Research.
Building a community where we can support each other