Diary of a Genetic Defect, VHL

2011-04-15T20:29:00.000Z

Virgin London Marathon

2011-03-20T15:24:00.002Z

I was thinking of my sister running that far and the stamina it will take, the conviction and commitment to get to the end. She told me that to get her there she will be thinking of me, my dad and our brother. There are memories that will push her through; like the time they locked down the ward after I had had brain surgery because Myra Hindley was also having brain surgery. My sister was trying to get me a bedpan and wanted to tell the press who were waiting outside the ward that I had wet the bed because they wouldn’t let anyone on or off. To do this she had to shout. We often laugh about the things that happen in the days relief after surgeries, something many of us who live with VHL must do.
Where did my race start? Slowly that’s for sure - anyone who has seen me run will know that; and a slow runner doesn’t break a sweat and I didn’t. My father has had a number of surgeries ones I wasn’t alive for or too young to know about but when I was a teenager he had to have brain surgery that meant one evening I said goodbye, just in case the next time I saw him he was dead, or as my mother had warned me, brain damaged. He was fine and I jogged on further, still fine but then things started to get very difficult.
We loved my brother so much, and his death changed us all. Until his death I had experienced VHL as a novelty really, something that meant that we had tests despite that nerve racking time when dad had surgery, nothing that hurt for very long. It felt like a half way point of the race, the hardest bit. I had to decide if I was going to give up or carry on. It was one of the loneliest times of my life. It was at his funeral that I decided I had to carry on, make it to the end. My big brothers life was far too short but he never found out just how horrible VHL can be. I’m now ten years older than my bog brother and I’m still going, even though I can’t see the end. He died before we all knew what a painful experience it can be. He did a sprint. The rest of us are doing a marathon.
So please give a little because the finish line should be hope and a cure which we can’t get without money!

UK donation are best through this site http://www.justgiving.com/Chloe-Doherty US ones through http://www.firstgiving.com/jorunning

A note from my sister

2011-02-25T08:48:00.001Z

I am not what you would call a natural runner or even an enthusatic one at that, but after experiencing a crazy moment have enrolled myself to run the London Marathon on 17th April 2011 with all monies raised through my kind sponsors going to VHL charity. Although I myself do not have the gene both my dad and younger sister Chloe have (as did my younger brother Conrad who very sadly passed away nearly 15 years ago aged 22) so have experienced first hand the physical, emotional & pyscological effects it has on those who have the condition and those who love them but don't.

Even though I feel like I have lived my whole life with the presence of VHL, I still feel I do not fully understand the condition and the implications it has for my family - after every check-up or series of tests it seems something new has been found or appeared. You come across very few people who have actually heard of the conditon let alone know what it means for someone suffering with it - whilst training for this marathon I have re-trained and qualified as a Emergency Medical Technician and even talking to paramedics/nurses etc who have worked for years in this field are stumped when I talk about VHL!

Nothing I can do can take away my dad & sisters pain/frustrations/worries nor those of my mum/brother in law to be/children/grandchilden or myself but I am hoping that when I cross that finish line on 17th April after 26.2 miles the money I will have raised as well as the awareness of VHL will go some way to funding more research into this devastating condition

Happy New Year

2011-01-09T19:50:00.002Z

I'm no nearer to a solution for the hole in my macular, one more specialist to see but so far it's has been a resounding - "probably better to leave well enough alone" and I don't mind, I'm getting used to not having that bit of site. Now I ask my husband to be
"Is that armpit clear?" and I'm thinking of training up regarding putting on eye make-up. If only I weren't so vain hey.
The brain has got a little something there that shouldn't be but so have 8 other parts of my body and right now I'm just letting it all be.

Down on my meds too. only need 5 and 5 now.

so dull really, for one with VHL things are plodding along and thank god for that because I'm getting married this year and frankly I could do without the hassle

My LIst

2010-11-28T17:58:00.001Z

Brain
2 spine
one optic nerve
2 kidney
tail of pancreas
oh and the liver

want one anyone?

Angioma and macular holes

2010-10-14T20:38:00.000Z

I saw a second specialist today who said that I have PVT and that the tumour is sticking to the retina and so surgery would be extremely risky because even the slightest nick would result in a haemorrhage.
I only saw the specialist for a few minutes and after I recovered from hearing news I didn’t really want to hear I now have lots of questions and no one to ask so on the off chance you can help I’m asking this help group.

Q. If a macular hole remains untreated can you eventually loose all of your vision or does it only reach a certain level?
Q. Is it dangerous to leave a macular hole untreated?
Q. Is the only way to stop a haemorrhage to corterise the site?
Q. If there is a large haemorrhage in an eye is it visible from the outside?

Sharing

2010-08-22T09:28:00.000Z

Being normal

2010-08-22T09:20:00.003Z

I've spent a week with my dad and his disbilities. We do al take os much for granted, such a cliche now but when I think of what used to be possible I realise how much he is missing. But my daughter doesn't know any different and as a result it seems to me that tey have the best realtionship out of all of us. She doesn't have any false expectation of him, she's only ever know who he is now and she loves him completely. They get on, both as daft as each other. He windes her up; she windes him up. They play togther and he is a proper grandad who does grandad type things. So I miss parts of him that he misses but at least they are both enjoying their time togther.

Fit and well

2010-08-09T12:32:00.000Z

My baby

2010-06-10T19:14:00.000Z

My VHL free baby girl

2010-05-10T19:29:00.000Z

the old fashioned way

2010-05-10T19:28:00.001Z

This was how it worked the time before last

Dad and falling

2010-05-10T19:08:00.001Z

It went well, but he fell over and now his face is quite a mess.
Small but significant up-date

Gamma Knife - coming up

2010-04-20T21:43:00.003Z

it will be a week on Friday... The magic of sorting out a Brain Tumour without cutting open a skull. Takes about 20mins. I can't be the only one amazed by this. I can't be the only person who thinks 'too good to be true?' BUt maybe there were those who said that about paracetemol and the pill.
So once more my father will experience something that no doubt I too will one day endure and I am so grateful to him for being willing to do it. He does have a choice here. Some choice! I wonder if it (the tumour) were more deadly and by that I mean speedily so and not slow, eventually after horrendous pain and suffering and destruction of so much more, leaving only your soul to whittle away, just fast. If he would be being treated. I've gradually come to terms with the idea that for all the normal reasons my dad would probably prefer not to be here. He's apparently happy he has been this last year, a year since he tried, a year of wondering if he will again but that too has subsided.
He is here and part of my life and accepting the changes as best he can.
It is so hard but easier for me. I'm here. they are there.
I know I'll stay here, I stay selfish. I won't try to be 'a better daughter' I'll be me... and I'm always be grateful my dad was able to go first and that my daughter won't have to wait her turn.

gamma knife

2010-04-03T11:49:00.001Z

Dad's going to have to have some gamma knife done... watch this space

My Little One

2010-01-15T22:09:00.001Z

Isn't she wonderful?

No new nasties

2009-11-03T12:29:00.004Z

It is a pleasure to say that I've just got back from my annual review and I'm able to happily ignore the twinge I had and the always bugging feeling that maybe something has grown. So, nope I'm free, free , free.

eyes and eyes but no one is looking

2009-09-24T20:34:00.001Z

just that i notice it and i notice it every day. Nothing will change i suppose.

ummm

contradiction

2009-09-18T20:11:00.001Z

I watch 'Ugly Betty' i know but it is escapism. I have hiccups right now and have decided to watch ‘house’. So my Friday night viewing when my baby is asleep and my love is out may be a bit lame but I’ve been upset by what i see. I want House to fix my dad’s case and I have to remind myself that the only way the episodes work is that someone already did. Dad isn’t fixed yet and then Betty, dear, all good, well meaning, horribly moral Betty is letting her family down. She is letting them down because she is prioritising her life above that of her parent. Now this rings true, i too could move back home, could support more, could ask my newly formed family to change, i could not live the life i have been truly enjoying to ‘be’ with my father but i don’t want to. And to comfort me i think, believe, know that my father doesn’t want me to give up on any of my life either. Now i am a mum, now i see what she wants i find it very hard to say no. Of course I say no, of course I avoid giving in to the obvious bad habits (which includes TV which is hypocritical because of the addiction to TV I have myself) So in short... i’m not moving home, i’m planning to live this life and i will sacrifice much for my baby and i will love my dad, my mum and all of them from here.
Am I wrong?

We love the NHS

2009-08-12T19:15:00.002Z

If you do, and you tweet, please join the #welovetheNHS tweet spectacular
my eye tumour is ok,
my dad is ok
thiings are ok

More news

2009-07-20T14:58:00.002Z

A ridiculous week. Firstly my daughter turned 2, a big event for me and her. My eye is going to be fine, yes it bled, no need to do anything. Phew. My dad was released from one hospital only to be taken into another later on that week. And my partner lost his job. I left one school after 7years and then sort of started at the next.
You?

I was right

2009-06-30T19:56:00.002Z

So an afternoon in Moorefields Eye Hospital can confirm that my tumour on my optic nerve has been bleeding. I'm back home and feeling fine except for lack of sight in my right eye and oh, the broken toe. I mean really, I was defending myself from a surprise attack from a dying bee and kicked a wall, it bloody hurt. So back to my eye. I know nearly as much as you do. But I worry another day. today, ouch my toe...

eye eye

2009-06-28T20:31:00.003Z

so i just left a message with Moorefields eye hospital asking for my man to contact me, because the last few days i've had a dark streak across my vision in the eye with the tumour on the optic nerve. I've been here before of course. remember the toe... nothing came of that and if i blogged about every twinge i had I'd have gone mad by now and pissed a lot of people off. But I had that feeling tonight, one of oh well, could be worse. I started to plan for an operation. I'm thinking, well it is slow at work and i'd rather be fit and healthy for the summer when I can spend some time with my little girl. I think it all became more obvious when We went for a bike ride and I turned to check that no cars were coming and I had to turn a lot because I couldn't see. This streak has been there for a few days, i had an eye infection and it got gunky for a while but it isn't now and there is this streak. Now i feel stupid, now i'm thinking I bet it is nothing and you're going to waste more time and more tax payers money. Oh shit... i wish i had a medical degree, I hate this because I didn't mention my arm to anyone for months and it turned out to be a real, 'got to get it out' tumour. Better safe than sorry? Arrrghhh.

who am I

2009-06-24T20:30:00.002Z

My dad is still alive, and I'm glad of it because maybe he wants to be alive. But his desire to end it all has made me wonder who I am. I feel like maybe I'm an expert in getting on with it. I thought I was an expert in VHL and I am in my own but. I don't know what I'm saying.
I'm glad to be alive, I live a very good life.
I have so much.

Working Hard

2009-05-19T08:16:00.001Z

I have a new job, well the same job but in a different school and as a result I'm sitting here with very little to do. That's because I would normally be planning for next year bbut I can't yet.
I'm covering an English lesson. They are bottom set I think. I feel normal right now.

running running running

2009-05-18T20:08:00.003Z

My sister plans to run the 2011 London Marathon in aid of VHL. I don't say it enough but she is amazing. Sometimes it is easier to notice the things that make you different from your family and by doing this you make yourself feel better or worse. She is amazing, and recently has been someone I lean on. I hope I do the same for her. I haven't felt very strong this weekend and have felt at times overwhelmed by the enormity of what dad tried to do. It seems to me that he must be in such a sad place, why else would he try. He must be watching us, his family, his friends and strangers all mourn him. He is alive but we mourn, grieving for who he was but like all grief for what we will miss. He was a brilliant man and we know that the cruelty of this disease has stolen parts of him, the most precious part being his will, his drive and ambition his willingness to live. I have taken for granted that the survival instinct we all have at one stage would carry him and me through any odds we faced and as a family we have faced so many. My fathers strength has always been quiet, he hasn't blustered his way through operations, refused to be too public about the struggles and I guess just like my sister he is ultimately intensely private.
I wonder when he will try again, not if. I sit at work thinking of him and how he might try, when he might try and I'm angry that because of the law here I can't say, 'ok dad, when shall we say goodbye. When shall I hold your hand and let you find out if you will see your son again. Say hi from me. If you get the chance let me know you're safe but don't freak me out. Perhaps a butterfly when I least expect it or most need it.' But we can't and we wait and he falls into feeling more lonely and isolated because of it. I think he has lots to live for, lots of us to love and events to witness but he has to want to live and just being a visitor here, only being allowed to watch and not participate is, I guess, slowly killing him.
I miss my dad, my real dad seems to have gone and although I love the man here that may be a habit and not for real because I'm convinced my dad would have found a way to move on from the frustration of his current condition, would have accepted some help, aids and would be determined to pick up a guitar and play it. He would get so very angry at DIY jobs, so much so it would frighten me as a child. It was the frustration at being defeated by something so simple. He would look ready to burst. When he gets angry now it reminds me of that and the fight is in him, he will carry on but then he calms down and sees the futility of his effort and that I suppose those moments are when he wants to ultimately give in. And he did give in but if you believe in the dead having an impact, maybe just maybe Conrad said, not yet dad, not yet.

A strange week

2009-05-02T20:23:00.002Z

I feel so sad and a bit worn out. I think I may have under played how bad my dad'sa health has become perhaps not. What I haven't said is that he doesn't want to be here anymore and so last Tuesday he tried to take his life. Here in England that is illegal and so when he refused to go into hospital (my mum found him) they had to threaten to section him. You have no doubt realised that he didn't manage it, he didn't take enough even though he thought he had taken more than enough.
So 4 days later I have left his side and come back to my home and I don't know if I will see himalive again. he wants us to get on with our lives despite knowing he hates his. So I told him I loved him and that I would see him again. I wouldn't say 'goodbye'
So where does that leave us?

A weekend home

2009-01-11T21:35:00.004Z

I spent a weekend at home, we had a little Christmas because now I'm a mum I have to share her around. It was easier this time because sadly I'm getting used to seeing my dad that way. He seems so vulnerable and at the same time unwilling to give up now. He won't let us help him with some things. However he does at others. He phoned me, he was upstairs I was down. HE didn't speak on the phone and this panicked me. When I got to him he wanted me to do up his shirt and tie his shoe laces. I did, of course and was pleased to. These moments fill me with joy and dread and remind me of just how important the love we have for each other has been and will be. I am so proud to be his daughter. But I've no idea how my sister and mum cope 24/7

My beautiful girl

2009-01-02T13:55:00.000Z

Kidney

2008-11-07T20:19:00.002Z

It was that time of year again, I expected to wait a long time to be seen but I wasn't worried because I'd had a letter, nothing new. Thing was I did find out something new, kidney cysts. I emphasize cysts because importantly they are not tumours. And here is where the advances in medical science come into their own. The context of this is when I was at university i was told that an ultra-sound had shown problems with both my kidneys and that could mean both having to been removed, dialysis and if I was lucky a transplant. This week I asked tentatively, 'and if they did what would the treatment be.' The answer was in short, a tablet.
phew

my turn?

2008-09-02T18:55:00.003Z

Tomorrow I have my annual MRI scan, it is usually a long one. I feel like this time I might not get away with the - i was getting used to - all fine, two little ones but nothing to worry about. I feel like that because recently I've experienced pins and needles in my right hand. Nothing major, could be something else but there all the same. It brought back the memories of my heavy hand. The one I knew was a brain tumour. It is doing it now in fact. My body, telling me it could be my turn again. I've been hospital/operation free for nearly 8 years. Actually that's not strictly true because I had a C-section to have my beautiful and VHL free daughter.
But then again i thought a tingly toe might have been more sinister than the grumpy toenail it turned out to be. Maybe this is a case of a tight watch or bra. Perhaps too much typing on these things. A nerve that's going through some changes and unless it really does need taking out, my fictional tumour, I won't know until my appointment in November. I wonder if I could call and ask. Should I?

Crosswords

2008-08-24T16:34:00.002Z

My Dad is in again, it feels like he has been like this for so long but really it is only 18months and it is steadily getting worse. So much worse. We manage to do the crossword together and this is one of the few things that doesn't make me feel like i'm looking after him, although i do fill it in as his handwriting is very bad now too.
The frustration he must feel spills over sometimes but considering he really seems to be coping well. I don't think I am. I've been very tearful recently and I am getting cross with the medical profession. They offer hope but is it false hope, does this really help anyone?

caring

2008-05-30T20:48:00.001Z

The last three weeks have been difficult. I’ve been to the various hospitals that plan to look after my dad and I’ve cared. I hope and pray it doesn’t happen to me and feel such a swell of relief that it can’t happen to Ayla through VHL, but I have. Putting a nappy on your dad and the n going home to pt one on your baby girl pushes irony to its limit. I fed him his soup, I have washed him I have helped him clean his teeth. I have listened to him try and articulate his thoughts and feelings. My father is a wonderful man and he should have been loving this time of his life. He should have been able to relish his retirement. He gave all he could to his job and I never in all those years felt neglected or that his work came before us, ever. I was a very lucky girl because both my parents worked but I was always of the opinion that we, their children, were the most important people in the world. We still are. I really hope Ayla feels the same when she is 30 and 15 for that matter.
When are you allowed to let old age take the blame for what happens to you? VHL is getting all the blame so far. Well he deserves it.

It ends here

2008-05-30T20:26:00.003Z

I remember when i was a teenager and first embarking on a serious sexual relationship when I realised (or was reminded by my parents) that getting pregnant was a bad idea, not least because I was a teenager but also because of the 50/50 odds of VHL. ‘It ends here’ I thought. My brother, the other member of the family who had it was dead and my dad,well as you know, he had had a vasectomy as soon as they knew it was genetic. I really felt that I was the only one left, the only person with this horrendous and murderous disease. And that was a decision I made. No babies with anyone, until I met Asher and I really wanted a baby.
And now I have one.
Since the moment she was conceived I felt guilty, my own desire and pleasure of a child and I was certain I had given her this disease. I knew, deep down that she had it, told myself she had it, was waiting to hear it officially but knew. You know? And there we were, dashing from Euston Square to Great Ormond Street all to hear what I knew and what Asher knew and then the Dr said. ‘I have some good news for you.’ And my gut and my instinct and my Catholic guilt evaded me, left me, out up their strong arms and gave in.

She doesn’t have it, she is free.

It ends here.

Unless I get pregnant again of course and then we play fates game all over again.

PS
once when i was in Rome i walked through a gateway that I seem to remember a nun saying that if you went through in a state of grace you got what you prayed for. I was selfish with my prayer but thank God I was.

So ugly

2008-05-14T19:34:00.002Z

It has been a while and VHL has grown so ugly. My father has been in and out of hospital and each time it is worse and more horrid. No one seems to know anymore he's drifting backwards. It is strange to watch my daughter now 10months growing in confidence and ability, learning to feed herself, pick up the tiniest objects and soon she looks like she'll walk unaided. And my father, my dad is loosing all of these natural gifts. He can't hold a pen, phone, comb, toothbrush... you get the idea. And as my little one continues to babble on and experiment with sound he becomes slower and harder to understand and the cruel cruel truth that his brain, the thinking him part is still as able as it ever was. I know he was terrified of getting Alzheimer’s as his dad did before him but this is so much worse. I hate it. And the guilt and the worry, will that be me in 20 years will that be Ayla. We find out the test results soon, we’ll know the 50/50, we’ll know the horrible or wonderful truth. And yet more guilt, that I can’t stand going in to see him. Once I’m there I’m so pleased but the effort the drain the walk the tube the everything. But I love him so much and it is the very least I can do.

my baby girl

2008-01-25T16:57:00.000Z

i know it is sideways, you'll have to turn your head. She is on her granny's lap.

radio silence

2008-01-25T16:52:00.000Z

It has been a while and this is partly due to me now being the proud mum of Ayla. As far as VHL is concerned i have been given the all clear for another year my tumours are the same as they were before. The VHL hits hardest where my dad is concerned, he has decided to retire through ill health and this disapoints me. I'm sad that he isn't going to carry on but i do understand why. He seems more angry than ever before, his gentle nature is being destroyed by the disabilities he is now facing. I could go on but my baby is about to eat a big bit of paper!

new mum

2007-09-03T17:15:00.000Z

I'm finding it hard to find time to do this. My mind isn't on VHL very much. Dad goes back into hospital next week for further tests. I guess that's why I'm on here again. And i hope I've managed to upload a picture of my little girl.

She's here

2007-07-23T13:50:00.000Z

She has arrived. Last Wednesday 18th July at 2:45 pm our time. 7lb 4oz and she is wonderful I'm so happy.

We have called her Ayla.

Pictures to follow.

I HATE IT

2007-07-04T09:49:00.000Z

I hate it, I hate it I hate it. It creeps in and nibbles away at the perfectly good life you live. Why the rant well VHL does it’s bloody trick again.
I had an appointment with my prof and all was well. All of us in good spirits and off we went happy as the day was long. Then at about 8pm I suddenly experienced a strange change in my sight, a swirling kaleidoscope circle in my left field of vision. I carried on hovering, naturally but when I’d finished I went into the kitchen to my partner who was finishing making dinner and I told him. Nothing to say; perhaps a lead into a migraine. But I’ve never had one it just sounded like it might be. As I was eating my left hand filled with pins and needles. I sat up as instructed by my partner who said I may be leaning on something. My nose started to tingle too; like it does when I’ve had injections to numb it. It was now about 9pm and I was worried. I went up to the toilet and when I came back down the left side of my tongue was also tingling. We decided to go to A&E.
Now if it was just me I probably would have sat it out and stayed at home and seen what I felt like in the morning but it isn’t just me anymore. 37 weeks of a daughter is inside and we felt we should see a doctor. If I was ‘normal’ then I may well have gone to A&E because of the combination of symptoms and I’m not normal. And as all the symptoms faded I felt like such a fraud. Even as I was taken very seriously and the baby was fine and the trace of her heart showed her to be completely unaffected and as they asked it I would agree to staying in over night and as I said no and as I said I’ll phone my prof in the morning and as the Doctor there did the neurological tests and said that it did sound like the symptoms of a stroke; which she said in such a blasé fashion I wondered if people had them all the time and even as my partners normally ever so calm face remained slightly sullen I did, I felt like I was a fraud and was wasting everyone’s time. So now I’m sitting on my third day of maternity leave full of anxiety and typing away here to off load. Pissed off that the VHL monster has managed to take my calm and take my security. Again.

Vulnerable

2007-07-02T09:07:00.000Z

He looked so vulnerable. He was at my gate, stick in had with a list to the right; his hat on his head and mum dashing around in the background sorting the dogs and the car out. He smiled and wobbled on in. Later that day I gave them both a lift to the tube as dad had his first check up since the op. The surgeon is very pleased with him. As we pulled up in a line of traffic I said they would be better off getting out there (nowhere to park) so mum got out. Dad tried, he tried to do the window, get his bag and stick out and open the door. All foiled by the seatbelt left around him still connected to the car. ‘Don’t worry about the window dad just get out’ I felt bad. He almost fell out of the car and a kind man steadied him as he tumbled towards the pavement. Mum looked flustered and cross; a common face these days. He seemed so disabled and I couldn’t stand it.
Since then I’ve seen many people who use sticks and wheelchairs and it seems to me that the problem with my dad is that he refuses to accept he has limitations so he’s not able to deal with them. He still insists on speaking at 90miles an hour and so it’s very hard to understand him and he doesn’t use his stick properly. E.g. as he gained his balance to walk towards the tube I saw him lift it up to point at something!
And then there is the usual fear; will that be me. Will it be her?
But then they came back from then check up and there was all the positive things. The gamma knife will work on another tumour that is looking dodgy and the ones on his spine are doable too. But the best news is they are waiting for a new, faby daby doesy thing that is coming to Britain soon that is better than a gamma knife that will get em. Not the most technical way of describing it but I wasn’t there and so I didn’t get to make my notes. But it sounds good doesn’t it?
I’m on maternity leave now. Two weeks on Wednesday for the c-section.
I will do pictures. Take care everyone

Mum to be

2007-06-01T10:44:00.000Z

The best thing about having this blog is making contact with other people, well ‘Steven’s Journey’ really. But it makes me feel less isolated. In about 6 weeks my baby is going to actually make her presence know and I’ll see her. So today when I read the other blog I visit most often I thought about a day when I may have to have a conversation with an 18 year old. It may not happen; well at least she might not have VHL and I pray she doesn’t but we may talk about me or granddad. My niece and my dad sat on my sofa and he explained what the operation was for. She took in her nine year old stride. So will my little one.

It's all hospitals

2007-05-17T17:59:00.000Z

It was a hectic week but dad is home now. Although he seems a little depressed; I think he expected to be better than he is by now. His balance seems to be better than before the operation but is speech is effected more now. If he slows down he's much easier to understand and face to face I get almost everything he is saying. It's a different story when it come to over the phone though. But things are getting better everyday and I'm so relieved; a bit emotional as a result.

I've had an MRI to make sure my lumbar region of the spine is tumour free so that I can meet with the anaesthetist for my C section and hopefully be awake and not have to have a general anaesthetic. As a friend of mine put it yesterday, it's all about hospitals and tests at the moment.

Not long to go now

In and Out

2007-05-02T08:08:00.000Z

Well not quite out yet but my dad has been in hospital and the tumour is out; all of it. He is sitting up this morning, has had breakfast and can speak, move fingers and toes and seems to be well on the road to recovery.

More thoughts

2007-04-16T18:33:00.000Z

It can bring you closer. My sister and I have had an interesting relationship; we love each other but recently we have become closer. It was a change in her I think. She realised that she had been holding me at arms length; too afraid to love me completely because somewhere inside it would mean that she wouldn’t hurt so much if I died like our brother. But that was hurting her and with some honesty and perhaps me being a bit more grown up we have become who we are now. Sisters.

Today we talked about VHL. She realised that as her husband who was asking lots of questions about the disease, asked away she felt that she didn’t know anything. She felt like she had heard so much but taken in nothing. Perhaps, but as I said I’ve had to repeat my information so many times I suspect it’s just there.

Dad Update - email to people

2007-04-15T13:05:00.000Z

Hello everyone.

Not the best news but the expected news nonetheless. Dad met with Mr S and Prof C on Friday and the results of the scan show that he does need to have surgery. The tumour in question has grown quickly and is what is causing the balance and speech problems. It was 10mm a year ago and now it is 2.7cm; it’s solid and it needs to come out. There was talk about waiting till after the baby is born but after a family conflab it was agreed that the little bugger should come out as soon as possible which is what Prof C says is the best course of action. Dad is going to contact them tomorrow to tell them this and I suspect that dad will be admitted quite soon.

Obviously there are risks with the surgery and they all sound horrendous but there is the chance that he’ll be fixed and as good as new. So once more, please put your positive thoughts; prayers; ask the universe… what ever it is you do... (probably best to avoid any pacts with the devil) to ask that all’s well that ends well.

Love to you all

Hatfield-McCoy Feud caused by Von Hippel-Lindau - my arse

2007-04-10T16:12:00.000Z

There has been coverage of this story for a few days now. I'm really surprised by the number pf people who are interested in the story. I don't know why but it annoyed me. I think because I don't want this disease labelled a 'rage disease' I mean, really!

So I’ve commented on a few blogs about it. I saw on one that the VHL alliance have done there bit too see this

Good Old Joyce said “VHL does not cause rage, or even hormonal issues. It may lead to one of six different kinds of tumours, only one of which causes hormonal issues. A "pheo", a tumour of the adrenal gland, can cause surges of adrenaline, that fight-or-flight response that when you need it is great. It gives you extra speed and strength in an emergency. But injected into your body at random intervals, it can feel like a panic attack or palpitations. Very rarely is it interpreted as rage.

Might it have been a factor in the feud? Possibly. But don't forget that the Hatfields do not get pheos and they participated just as wholeheartedly in the feuding. There's a very strong component of culture and environment operating here in addition to the undiagnosed medical issue.

Having a medical problem is NOT an excuse for bad behavior. Everyone occasionally has bad days, or feelings of rage. Fortunately, few of us act on them. We are all still responsible for our actions.

Best wishes,
Joyce Graff
Executive Director
VHL Family Alliance
800-767-4845 or www.vhl.org

Bit maybe all publicity is a good thing.

Genetic testing

2007-04-10T11:07:00.000Z

You know, it is an odd phenomenon. I was thinking about the implication. We said no to the idea of screening for VHL on our little girl and if you’ve read my whole blog you’ll know we made that decision long long before this little one came into being. But what does it mean in a wider context? It has implications for everyone. So many diseases and syndromes have genetic implications; could it get to a time when if you refuse to have a general genetic text then your children could be refused health care? Could it be the case that if you make the choice to go au natural then your child would be disadvantaged by your stance. And then I wonder to myself. If someone offered to engineer this little person growing inside me a way of ensuring she were VHL free would I take it? If they could of it to me would I? Ummm yes. I think so. I’m not 100% sure. Just something on my mind. Seems lots of people are thinking about it.

The Real VHL

2007-04-01T08:21:00.000Z

For my partner this is the first real journey into the reality of VHL. We have been together 6 years and he has heard the word tumour so may times and he knows I have them, he knows my dad has them but so far no need for treatment. And so here we are slap back bang in the bit that makes it as bad as it is. It’s been a long time. Long in my sense of it. And I found myself thinking, ‘thank god I got pregnant before he found out the truth.’ So yesterday I felt guilty and today grateful. He would have probably run off and got a vasectomy if he knew. It’s a rough time ahead. I’m wondering if having been through it a few times now if it will be any easier. I may be being a bit premature, as we don’t know if they are going to operate yet. I don’t feel quite so sad today but I do feel anxious. I’ve started tidying, my coping mechanism. When I can’t control the health of my family I start controlling the environment around me.

I have a haunting memory of saying goodbye to my dad the last time he has a brain operation. He walked down to the exit of the hospital with us and I held him tight. The ‘I love yous’ flowed but the tears didn’t; we had hope in our hearts and minds and at the same time I felt deeply fearful. I felt full of sadness and I was a very scared little girl. I was about 13. I didn’t know if I would see this version of my father ever again. I did, as you know. My family have said goodbye to me; three times. My partner doesn’t know that feeling; but he will.

In a bizarre way I suspect this will help his understanding of my family and my ways. It could be a very important development and make him a better father to our little girl. He doesn’t need it to be an amazing father but maybe, just maybe this needs to happen. My eldest niece will find this very hard; she is nine. She is a drama queen and she’ll find it very hard to reconcile her real emotions and her nature to blow them out of proportion. I know this because that’s me too. I’ve had to learn to not be hard on myself when I indulged the fear and grief that comes with it but more importantly I’ve learnt how to lift myself up and get on. She is learning these lessons at a very young age. She already understands grief because of her parents splitting up but this is a different flavour of it.

So my partner and my niece will be doing this for the first time together.

Email to people

2007-03-31T13:37:00.001Z

Prayers and positive thoughts needed.

Hey hey

Some not so good news today. Dad has got a letter, it looks like it is a brain tumour in his cerebellum that is causing the balance problems. We thought as much. But that’s where you lot some in; go on get praying and thinking etc. We don’t know the plan of action yet; he’ll get an appointment soon and I’ll of course keep you posted.

My sister is on holiday at the moment and so she doesn’t know. So those of you who might have a slight chance of letting slip before dad gets to tell her shhhhhhhhhh. Very unlikely for most of you.

Sorry to say it via the wwb but you know me!

Take care ya’ll

Today I feel sad

2007-03-31T13:31:00.000Z

My dad said ‘hello sweetheart, where are you?’

‘You’ve got some results haven’t you?’

‘Yes, are you with anyone?’

‘Yes.’

‘Right.’ He said in his matter a fact voice that I have come to know so well in these situations. I always know when it isn’t going to be great news, he always approaches it in this way. I love him so much.

The letter said that the tumour in his cerebellum has grown and is the most likely cause of the balance problem. He is to go and see the Neurologist on a Friday. It said A Friday, not a specific one. Odd. I cried quietly while he pretended to be fine about it all and mentioned that f they could solve the problem then he should be able to ride a bike again. We pretended to each other that we where fine and positive about it. We talked about mum and the fact that she has only just done a solid poo since she came back from Egypt. We laughed and we said we loved each other and I out the phone down and sobbed. I had a little bit of hope in me that it was going to be a medication problem. He can’t die before his granddaughter arrives and he must be able to hold her and hold me too.

I phoned him and mum this morning, they had been worrying all the night before and had somehow convinced themselves that the tumour the letter was referring to was the one on his brain stem. I hope I managed to convince them it isn’t; it’s one that was already in the cerebellum. They are different places in the brain; it would have made it clear that it was on the stem I’m sure. If it is that one then, well he’s fucked! Excuse my language but there it is. I feel sad and as I sat on the toilet and my baby girl kicked in my womb I said ‘sorry’ out loud. Sorry I’ve done this to her. Yes she wasn’t planned but who am I kidding we weren’t careful. I wanted to be a parent so much that I’ve been selfish. Please god don’t let her have it, please god don’t let her have to feel this pain. But she will won’t she. No matter what. I’m probably going to be phoning her and saying… ‘are you with anyone? Now sit down…’ And it won’t be one day it will more than likely be a few times.

How does he do it? He mustn’t die yet, he mustn’t be harmed again, he mustn’t be a memory I have to tell. We already have to do that with my brother for my nieces. Then I think of friends my age who don’t have one of their parents… for 28year of age I’m lucky and not so lucky. It could happen but I hope and pray it isn’t yet.

Today I feel sad.

Week 22

2007-03-22T18:17:00.000Z

All is well as far as the baby is concerned. She has started to move about and I can feel her, and yes it is a She. I'm really enjoying being pregnant. I didn't let myself entertain the idea that I might be a mum that we could be parents and we are 22 weeks on our way to it coming true. It does feel like I’ve been pregnant for years not months but I’m not bored of it, I might get bored and I’ve been getting backache at the end of a day but I still love it. My baby.

On other news my dad hasn’t had any results as such but I always feel more hopeful when it takes a long time. It usually means that things aren’t a problem. But then they are, his balance isn’t any better and he keeps falling now. Injury list so far, finger and knee.

And my VHL health, well as you lot won’t tell; I’ve been getting some fluttery feelings around the left shoulder blade. It’s internal but just under the skin, a bit like pins and needles but not unpleasant. So I’m wondering if it’s got anything to do with the tumours on my spine. I mentioned it to my dad and he said it sounds like the sort of feeling he gets in his legs now the pain has been sorted through the medication. I’m not going to say anything to anyone else just yet. Even if it is the tumours there isn’t a problem, it’s not like they could operate while I’m pregnant. So apart from getting it out there in the open with you I’m not going to worry about it. Well not really.

Breast Feeding

2007-02-27T16:43:00.000Z

As some of you avid readers may know, as I don’t have any adrenal glands I have to take steroids three times a day as replacement therapy (most of you produce it quite naturally). I, we were concerned that I may not be able to breast feed but hooray I’m allowed. I reserve the right to change my mind about being pleased when I give it a go and I have to put up with leaking boobs and feeling like a food factory.

Prof C also made it clear that he is being very cautious when insisting on a C-section for the birth but he doesn’t want any of my hemangeoblastomas bleeding under the pressure of pushing because the one woman he knew who that did happen to died. She had a much worse set of them than me and had had all sorts done to them like radiotherapy but I’m with him on the better be safe than sorry side of life.

So I’m enjoying being pregnant right now, I love the attention, at 19 weeks my bump is starting to look like a baby bump and not just a ‘who ate all the pies’ bump. I still want to tell everyone I meet but I’m not being that mad.

We saw the geneticist too and as testing/screening for tumours would start at 5years he suggested we wait till then to find out the child’s VHL status. I said I’d rather know as soon as possible because if I know it can be a natural part of who he/she is and if not wonderful. I’d just worry for 5 years if I didn’t know and my brilliant, better than I ever expected to get, partner agrees.

Something else that struck me was prof C’s comment that if our baby did have VHL he expected we would be devastated, you know I don’t think I will be, sad, yes, but I feel like - who better to be around if they do. My parents have never made me feel devastated about it, it’s part of me and it has made me who I am. And I may be repeating myself but what ever happens this child will have to cope with VHL because it’s mum and granddad will have it.

Really feeling upbeat today, I’ve got a smile on my face and it is there quite naturally.

So here’s hoping the next half of the pregnancy goes as well and then the rest of the little bundles life too.

e-mail about dad

2007-02-25T15:07:00.000Z

hi all

just to let you know the latest, dad had an appointment with prof C tonight re balance and general wobbliness. The good news is prof C says that it should be something that can be solved. The two most likely reasons are either a tumour in the cerebellum or a problem with medication. To find out he is going to have a MIR scan and has had some blood taken. We are all pleased that he didn't say 'well there you go, bad luck old chap looks like you'll need two sticks or a wheelchair.' or words to that effect. I’ll keep you all posted of course. Thanks for positive thoughts prayers etc.
love

wobbly father

2007-02-08T10:51:00.000Z

my parents came this weekend, it was great to see them. Each time my dad seems more wobbly. The radiotherapy took its toll and there isn't anything anyone can do. We talked about him getting a cane. My sister gets sad, she lives about 10mins from them and she gets to spend a lot more time with them. She said it makes her so sad when she is out with him and strangers assume he is drunk because of the way he weaves around.
As a family we laugh a bit at it now, dad does, making 'oops' and 'whoa, ooh' sounds when he's toppling towards the wall, door, floor, dog, grandchild...
At a New Years meal my mum screamed his name as he stumbled backwards from his chair.
'That'll help' I laughed as i saw my mum realise how angry she was getting at him for something he has no control over. It must be so much harder for her. I know they talk about when he may end up in a wheelchair and how the house would have to change. I don't want to think about that.

I'm not married but i want to be and my partner and I will one day but it occurred to me that i want my dad to walk me down the aisle, not me drag him down trying to avoid small children that he may go splat on. But then these are the moments that make the day, the funny stories you remember. I just pray that please god by the time we get round to it he is still with us. I'm so grateful that if all goes well he will meet his grandchild.

I reckon he's got a good 15 years in him yet. I hope and pray I'm right.

Another Day Curve

2007-01-31T17:13:00.000Z

Not much to report, feeling healthy but tired. Just making sure I keep you posted, the loyal few that is.
Everything is going acording to plan.

a few days at hospital

2007-01-21T10:08:00.000Z

Just to say that next week I'm in twice for baby things. I'll let you know how it goes.

Day Curve

2007-01-06T11:11:00.001Z

I had to get up very early, it should have been my first day back at school but I had a Day Curve. That’s when you have your blood taken through the day to see how much cortisone you have in your system. I was due for one anyway but we need to see if my baby is taking it and leaving me with too little. I haven’t had one done at Barts before but they are very thorough. As I was laying on the bed, (something to do with blood pressure I think) another person came in and ear-wigging I realised that he was having a day curve too. Now I’m having it because I don’t have any adrenal glands, but some women can have conditions where their adrenal glands don’t work, like Addisons. Anyway. He was a he so I started to wonder. We always used to wonder, my family and I, if people in waiting rooms had VHL but we never asked. My mum never wanted me to join one of those support groups because she didn’t want me to fall in love with someone with VHL and have a real problem having babies. I think that she also worried that we would hear horror stories or that our problems would upset others. Back to the day curve. So you have blood taken then you’re free for a period of time, sometimes just 30mins sometimes 2hours. There is a day room to go to and I took a good book and some school work and a deck of cards, hopeful that my partner would leave work early and come and entertain me. (He did) So after my third lot of blood I went into the day room and there was the other day curver. We exchanged hellos and then my curiosity took over. ‘You having a cortisone day curve?’ ‘Yes, you?’ ‘Yes.’ Pause. ‘Are you under Prof C?’ ‘Yep.’ ‘Me too.’ Then the moment of truth. ‘Have you got VHL?’ ‘Yes.’ ‘Me too, rare bunch aren’t we?’ And we got to talking. It was good. By the end of the day I felt a bit like I knew loads about him. We talked about our operations, our families, the losses the way we found out. We discussed our levels, I told him I was pregnant and he seemed really pleased, which was lovely because as odd as it sounds I thought he might say, that’s stupid why have you done that don’t you know the risks, but he didn’t. In fact when my partner turned up we talked about our knowledge of thinking about having a baby as a couple and he seemed to find this, well comforting, maybe.
There was a connection, almost like a distant family member. It’s good to meet others, to know we exist and we are strong and alive. It’s sad to hear of those who have died but I was proud to say my dad is on his way to 60 and still working. It gives hope. Too British to really make a leap into the unknown and offer a phone number, so I left a little card with my email address on it on his bag when he was having his penultimate blood done as we went home. Who knows if he will get in touch, I’ll let you know.

Eye Eye

2007-01-06T10:41:00.000Z

I had my annual review for my eyes at the end of December. It was a warm day for December. My partner came with me even though I could have gone alone. I really like it when he comes because feel, well supported. Not to say that he isn’t wonderful and the number of appointments I have he couldn’t make all of them without using all his annual leave. So I saw a Miss and told them I was pregnant so they only gave me one eye drop. I had my eye, the one with the tumour on the optic nerve photographed and then scanned because of the maclia issue. I asked if I could talk to the main man. Mr Webster. I’m happy to name him because I think he is brilliant, they all are there actually. As my partner pointed out, they speak to you with respect and don’t patronise. They use medical language and make it clear. So the crunch, when Mr Webster spoke to me he said the tumour had grown. It’s been the same size for years now, but u have noticed a slight change in my vision in that eye so I wasn’t totally surprised. But he did say that there is anecdotal evidence that pregnancy can make tumours grow. So previously id been told the only treatment is laser and that would damage my sight because of the position of the tumour. The good news is that in America they had been working on a medication that will sort the tumour out and make it go away. ‘Is that oral medication?’ I asked, really what was I thinking?
‘No, that will be an injection in the eye.’ Right! I didn’t ask anymore, I can’t have it till after the baby is born so I’m happy to wait until nearer the time to ask if I’m awake when they do it, I bet you have to be.

Happy New Year by the way.

Still Pregnant

2006-12-10T09:57:00.000Z

But I’m actually feeling afraid that it won’t happen. Each time I go to the toilet I check the paper to see if my period has started and I try not to think that it wouldn’t be a period. I suppose I am bewildered by it all and I just don’t understand why I suddenly got lucky. My mum says it’s because I’ve had some really crap things happen to me and it’s about time I had such good news. But I’ve felt like an incredibly lucky person for a while now. I have so many things to be thankful for. This is too good to be true. I’m waiting for the bad news to come, to hear that the baby isn’t growing because I don’t have adrenal glands or it can’t go to term because a tumour is pushing on my womb and I have a ton of new adrenalin that’s about to explode in my body. Why can’t I be happy about this, why can’t I relax? Arrgh

Doing the right thing

2006-11-26T09:24:00.000Z

We are so excited that we haven’t followed convention and we have told everyone. It is so early but you know what I’m having a baby and if that goes wrong I will have lost a baby so who cares who knows. I was sitting on the tube yesterday and I wanted to tell everyone sitting on there with me. It still doesn’t feel real, I keep expecting it to be over but I’m so happy. The more I think about it the happier I am. So how strange for a really good friend to ask ‘Are you sure you are doing the right thing?’ She also asked if I was going to have the baby tested for VHL, and she remembered that that could happen at 5 weeks. No. Simple as that. No. She said it with love in her heart, she is the type of person who would hate to feel she could have made a difference and didn’t take the risk but it was a strange sensation to even consider the idea. Even if this baby does have VHL I’m not going to want to find out till after it is born and my partner feels the same. Who ever this child becomes it will be ours and we will love it, I may not always like it but I already love him/her.

No we are not getting married!

To Plan or not to Plan

2006-11-25T08:39:00.000Z

How quickly things change. I’m pregnant!

Something I always hoped and prayed would happen. All those times a quietly swallowed tears when people assumed that I would be a mum one day, they never even thinking that I couldn’t plan it, we couldn’t plan it. And we didn’t. One night of recklessness and there you go. To quote my partner ‘He shoots, he scores’ So there we have it. A baby.

Oh my.

I’m sure I’ll have more to say about this but I’m still a bit stunned not to mention many more emotions like, nerves, fear and utter joy.

It is very early days and so we have to be realistic but that fact that we have told our families and loads of our friends already

Annual review

2006-11-19T08:16:00.001Z

It’s not for a while (had appointment letter through) but I’ve been feeling uneasy, partly because my work has been very difficult and I’m anxious about a number of things. When one thing makes you feel low other things do to. The truth is I’m concerned about my eye. I had a weird thing when I had tunnel vision. I can do everything I need to with one eye, that doesn’t bother me so much it’s the idea of the surgery of it had to happen. Eyes being injected – ooohhurrg, it makes me shiver just thinking about it. At least my big toe has gone back to feeling as it should. Never did make it to the GP. (naughty)

Tumours Disappear

2006-10-28T10:58:00.000Z

Another blogger has reminded me of a time when I was about 16 and I was told I had a brain tumour. They (the doctors) said they would rescan in a year (which I’m now very used to) as it wasn’t very large and I had no symptoms. In the next scan it had gone. They (dr’s) didn’t fuss or think this was at all remarkable. If I remember correctly they put it down to it never being there at all. What the other blogger reminded me of was that at the moment I discovered that it was gone I allowed myself to accept that it had been there before and cope with that. I broke down for a couple of days. I functioned of course but I cried a lot and I was scared about it. Now, having had tumours that have only left my body through surgery or are still there I have begun to cope with them. I get very frightened sometimes that they will take away the things I love about my life, you know the ability to move and talk. But it also reminded me of something my Prof said. He mentioned that small tumours do come and go, they are there in one scan and gone the next. Crazy that my body does this to me.

I met a man last night who is 40 something and he has been a wheelchair user since he was 17 when he was in a car accident. It was strange to be in his company as I know that there is a likelihood that I may well end up a wheelchair user and more likely that my dad will be in one first. I wanted to ask him so many questions but t didn’t seem appropriate as we were playing poker.

Dad Update (An email)

2006-09-30T08:32:00.000Z

Hello everybody

Just to keep you in the know. Dad spent last week at hospital again and was thoroughly tested, prodded about and medicated and the news at the moment is that they are going to try and increase his medication as it was doing some good. He also endured a rather painful 4min long injection of testosterone but the result is that he can now lift a sword aloft, cry ‘I have the power’ and any near by tigers turn from quivering, speaking wimps to ferocious Skelator fighting warriors.

p.s. dad says please don’t send any of your men to challenge him (or tigers for that matter)

Beauty Queen

2006-09-20T17:34:00.000Z

Recently I was at an event, not my sisters wedding but a big party type thing. Now as big headed as this is going to make me sound I looked great, I had made a real effort. I felt fantastic and I walked out from the bathroom where I had changed from my jeans and t-shirt and into the room where several people were gathered. Words like ‘stunning’ and ‘amazing’ were used. A friend of ours even let his jaw drop. I looked good and my boyfriend didn’t comment. Later on I was thinking about it and I asked him at my sisters wedding if he thought I looked good and then I thought back and well he doesn’t do that, he doesn’t say I look good. Lots of other people did. So I wonder if he doesn’t see me as stunning or amazing maybe it can’t see anything but my imperfections. Perhaps it is because he knows about me, he sees more than just the outer layer of me. It made me feel a little bit sad but also I sort of expect it from him as he isn’t the kind of man to only be with someone because of the way they look. He of course tells me that he loves me and I am confident that he does. And I know that in the recent past that he has said that he fancies me but that is generally when he is either trying to, or just about to get his leg over. I’m prepared to be proved paranoid but I’m also pissed off by the possibility that it might be true.

My Big Toe

2006-08-29T14:30:00.000Z

My big toe is tingly. I’m hoping that this is due to something like an in-growing toenail. The problem is that I know my dad’s toes do tingly things and I also know that tumours in various places cause that too. Now at the moment I am not feeling too freaked out about it and I’m actually thinking that my toenail looks a little rubbish and could well be the cause. And even if it is a tumour I’m thinking that it may not be something that needs fixing. I could really do with a pill that shrinks tumours, then I bet my partner would say yes to us trying for a baby.

Oh bollocks.

I suppose I should phone my G.P. and find out if my toenail is the culprit but I don't want to this week. I think I will wait until after my sisters wedding.

Dad's next set of tests are at the end of September.

Aluminous Yellow

2006-08-02T10:17:00.000Z

Having VHL means that I often have to have tests on my body. I was reading through a fellow VHLer and was amused by the way they felt about tests. The most unpleasant one was Venus sampling, but that’s mainly because they shaved half of my pubic hair and cut into my groin. The Dr was a complete arse and I’ve vowed to never let that happen to me again. I’ve had a lot of scans, MIR, CAT, something with radiation, bog standard x-rays and probably more that i don't even know about. The most humorous is when you have the eye test with the dye. The first time I had this test the dye made me feel sick and that’s because they gave me the same amount as they gave my dad. I was about 14 at the time. We left Addenbrookes and stopped off at a Happy Eater, this was in the days of the yellow paintwork; my skin was so full of the dye that I was a very similar colour, my blonde hair looked green against it. When weeing later on it was aluminous yellow. My dad and brother had the same colour wee which was not only a shock for them but also the man who happened to be stood next then in the men’s urinal. When I had the dye test done more recently I called my flat mates to have a look at my wee afterwards. They were really grateful.

Writing a will

2006-07-31T15:56:00.000Z

I wrote a will when I was 17. It wasn’t a fully legal one with a solicitor or anything like that but I was thinking that now I’m a homeowner I should do a proper one. I’ve lost the other one, it was on the computer we had at my parent’s house. I didn’t have much to leave behind but I remember thinking about my diaries and any jewellery I liked. I think I was going to donate my violin to my old primary school. When I think about it now, I’d just have more stuff to give away and now it would go to my partner and then he’d sort out what to do. But that was the unimportant side of it, the important part was to help people who would be left know what my last wishes were.

When my brother died we didn’t know exactly what he would have wanted. ‘Not to be dead’ someone said at the time. I’m not sure that was completely true. If my brother got his way death is an adventure and he’s ‘still travelling’ as it says on his gravestone. What did he want? He mattered a bit at the time but I think we did him proud, as with many funerals of the too young the church was packed, standing room only and some people had to be outside. My uncle spoke about him and although I knew how great he was I don’t think everyone there quite realised just how great. He was cremated and some of the ashes were buried, some were scattered in other places. I want to be cremated and the ashes can be spread wherever you (loved ones left over) like. So what do I want? Well a packed church would be nice and my eulogy needs to sounds like the truth. And I want the truth to be that I have lived the life I wanted to and helped others while doing it. I’d like to think that I was a good enough teacher to warrant some of my students, past and present, turning up and I want to be missed. I’d like to think that I leave behind hope though. A grand idea I know but that’s something worth lasting.

Opticians

2006-07-28T12:10:00.000Z

It isn’t all bad then, this disease of mine. I booked an opticians appointment at a well known chain of opticians, not that I think that’s a good thing, really I think we should support small businesses, but I haven’t because the money side of it swayed me, anyway. I haven’t been for a while, 3 years or so and as I get looked at at Moorefields every year and they know what they are doing as far as eyes are concerned. So the last time I went was in Barnet and this time I went to Woodgreen. They have a funny system of having to put you on their books, maybe it’s a franchise thing. The site test started as normal and then he asked ‘any problems with your eyes.’ ‘Well.’ I said and then I launched into… ‘I have a tumour on my optic nerve in the right eye and a small patch in that eye where I can’t see due to a crinkling of the maclia.’ The optician looked visibly happier at this news while trying o maintain his professional happy face, writing it all down in a box on his form that was far too small for all this. ‘I have Von hippel Lindau disease.’ I said smiling away as you do.

‘I don’t remember how to spell that.’ He said, his voice steadily controlling his excitement.

‘VHL will do.’ I suggested helpfully and he wrote it down. I smiled at him an ‘it’s alright to be excited smile.’

‘I used to work in a hospital and I saw all sorts there but not this, this is better than an average day isn’t it.’ He went about being very professional doing all the correct tests and I was pleased to hear that despite all that’s going on I actually have 20/20 vision. We talked about Moorefields and how when I go they often ask if the other people working there can have a look in my eye and I let them and so he tentatively asked if the other opticians could look, ‘of course.’ So for a brief time, my eye and my tumour had a slice of celebrity about them, we were now on first name terms and even though I hadn’t officially booked the contact lens appointment he saw me anyway so that I didn’t have to come back another day. Which was very kind of him (and I got that free which was even better) He discovered I had hayfever which was news to me and that I should change the type of contact lenses as I had a bit of an oxygen deficiency to my eyes. I have to say that I was very impressed by him. He told me off in a playful way when he heard that I don’t really check when I need to change the contact lenses each month. ‘with all that is happening with your eyes you should look after them.’ He’s right.

And so I left said chain opticians feeling special and rare and looked after and like I’d got a real bargain on my glasses (they did me a deal there too) Having a tumour on the optic nerve isn’t great but at least that day it felt better.

An email to people

2006-07-28T12:09:00.000Z

Hi all

I thought you might like to know the latest on dad. He has spent the week in St Barts and has had lots of tests and scans, it’s mixed news really. Addenbrookes don’t appear to be able to locate his previous scans so they don’t know if any of his tumours are growing so he’s got to go back in 3 months to see if they are and then they’ll do a biopsy on one of the ones in his neck. It’s been a bit frustrating and dad feels a bit deflated as we all thought that they would be able to come up with a solution this time but we are still playing the waiting game.

The back surgeon doesn’t think his pain is being caused by the tumour on his lower spine but would operate to remove it if dad wants him to. I won’t go into the remarks on all of his tumours as I’ll be here all night.

He has been started on testosterone gel, weird and he can’t get it near women or children with it unless he’s covered up!

Any way

I’ll let you all know more when we do

i wish

2006-07-28T12:08:00.000Z

i wish someone could fix my dad

20th May 2006

2006-07-28T12:03:00.000Z

An odd week coming up, my dad is in hospital all week and I’m going to visit him everyday.

Tonight I walked onto the ward. You know the expression ‘face lit up’ well that happened, it was so strange. I know my dad loves me but I think I know him well enough now to see when he is scared. He is scared, he won’t admit it, anxious or nervous or apprehensive but he doesn’t say scared. I am. More afraid of the inevitable and as selfish as it sounds I always expect what ever happens to him to happen to me but earlier. When I’m feeling positive I think that it won’t ever be me that I’ve had my last tumour.

When I was at university I have a strong memory of sitting in the auditorium, listening to a lecture and feeling my arm go heavy. I could lift it, use it but some how it felt heavy and I knew that feeling, my other hand and arm had been doing it for months before I told anyone and then I had a scan and then I had a brain tumour. Of course I had the tumour while my arm was going heavy but it felt like it didn’t appear until I told anyone. I sat wriggling my fingers, pinching away at my arm and then I started to cry. My lecturer notice and she looked really pissed off. At the end of the lecture she asked me what was wrong in a cross way. She knew about the previous surgery and I told her about my arm, her face changed. We talked and she asked what would make me feel better. Imagine.

'A scan everyday.' That was it, I wanted to know every second what was going on inside me. Impossible.

I didn’t get there on Thursday by the way.

You don’t always get what you want

2006-07-28T12:02:00.000Z

MARCH

Every one of these changes has left its mark

This time of year is bizarre. Ten years ago my brother died. Ten years ago I notice how warm the sun was on my face and I was glad I was alive. He wasn’t but I was. I took my life and I decided to make it worth living. I didn’t go to Disney land, I didn’t think about that side of life ten years ago. I listened to my uncle speak about my brother at his funeral and I knew that I wanted to have someone say things about me if I died. I didn’t want to be dead and have no epitaph so I set about living a bit more. You might not recognise it as such but that’s what this is. Take every moment and live it, even if it is crossing the street, cleaning the toilet, enjoying the touch of a hand, flirting, coughing, sleeping. As long as I’m not bored. I realised that I was bored and I don’t ever want to experience that again. Now if I feel boredom creeping in I get up and I do something, anything. I loved my brother and I remember him with love and fondness and I want him to still be here. I don’t want to be dead.

I still love him. When I’m at my most optimistic I think that he is still capable of loving me. I’m pretty sure he is the one who stops me having car accidents.

It is three minutes past ten

Can't sleep

2006-07-28T12:01:00.000Z

I should be asleep but I can’t, I’m thinking of my non child, she is just like me but better, she has all the best bits of me and all the best bits of him. She doesn’t get upset or cross and she is bright and beautiful.

24th February 2006

2006-07-28T11:58:00.000Z

Apparently we are young to adopt.

I want to take my own risk; I want to have a baby. Partly because the new child laws make it almost impossible to adopt without having the fear of god shoved at you, with all of the statistic and the worries who would. It makes having children a very harsh reality.

Everyone I know seems to be getting pregnant – and even on TV.

Why me? I really don’t get why him, a choice made once. I wanted to be married, I wanted that, I wanted the dress and the day and the ring and the silly surname vain – but once upon a time he said he wanted me. It wasn’t in a chapel, church, there was no priest or rabbi there was only us and an empty house and door between us and my tears falling down a sink. As I remember it we had to talk, after all sorts of not really talking about it we sat on the shared sofa happy that we were going to live together. We had of course been living together but hadn’t been sharing rent, we were of course deeply in a relationship but I was in Barnet and he was in Bounds Green. His flat mates had agreed and so had we, we were going to love together but we had avoided the big conversation. Children. Not a simple conversation when one of you is a genetic defect with a 50/50 chance of passing it on made more complicated still by the almost genetic fear of eternal damnation verse atheism. If I could have a baby and then terminate, if I was capable of knowing I had a life in side me and then having it tested and knowing it was the dame as me and my brother and my dad and then killing it, then the conversation would have been quite a bit easier. But I am not a simple person; I am a non-practicing catholic with all the guilt that goes with it (if I was still practicing the guilt would be less) There we were having the hard moment deciding if we thought we should still burry our heads in the sand and forget that we would not be able to make the easy decisions in life ‘leave the condom off baby lets make a baby’ you know the kind. If you do know the kind then you are not me. That only happens on the very tail of my period when we are both, ex catholic and atheist, hoping for a miracle. Funny isn’t it I spent a heavy part of my young sex life in perpetual fear of getting pregnant and now I spend my adult hood in fear that I will never be a mother, ever. I digress, so there we are talking about our non-existent baby, our non-existent future and we are deciding on it. I cry, I get frightened and I need to make a choice. It turns out this is my decision. He is very clear about his philosophy on life and when it begins. I worry that I don’t know if I can love him as much as I should and I worry that I love him too much and I worry that if I was with a less intelligent man I might be getting pregnant there and then which I don’t think is financially a good plan. I cry more, he doesn’t and through it all it gets very intense, I don’t remember much of it because I feel that at some point I have to black out. I do remember saying ‘ I need the toilet’ on the pretence of blowing my nose and actually have a pee. I cry, I ask god for help and I cry and I realise that I need to decide between the man I’m fairly sure I love and the baby I will not be able to have with him because either we will never have one or if he got his way o would have to terminate, abort, cut up, destroy, kill one that had a genetic defect, my, my dads and my brother genetic defect. Nice.

I hold on to the sink with my hands as I sink down, beneath it, the light isn’t on I don’t want to see my reflection and I sob. I hear him at the door. He is telling me he loves me and I cry and I tell him I have to choose my baby. I have to do that. He asks, begs me to open the door and I say a prayer and I tell him again that I can’t do it. He sounds like he is crying and he tells me that he wants to be with me. I wait for a sign, it doesn’t come and so I open the door. He holds me while I tell him I can’t give up my child, he says he knows and that’s something he is willing to accept. Stupid bastard. In hindsight he really should have broken it off with me and then he would be free from this. He is too clever and although he says there is no such thing as being IN love, it feels like if there was such a thing he definitely feels it for me. Idiot. I wouldn’t choose me.

And that was that, there it was, the moment we joined, no cake, or bridesmaids, no photographer just a moment when we became us. Since then we have been close to taking it all back and then we don’t. Love is a funny thing.

We talked today about adoption, again and we are young to adopt. I know we will be great parents but this is fucking scary, I haven’t spoken to anyone with any adoption experience who say, oh yes do it, the best thing that ever happened to us. Adoption where both of you have no genetic connection is hard. Children are hard work. I know I’m a teacher. Some of my pupils are wonderful, I love them already but some wind me up. I love my niece, right now she is 8 but she can be a pain in the ass but I love her, can I love a child that I don’t know? Can you fall in love with a child, should you? ARRRRRRGHHHH

We could be great parents. 50/50

The tick list is numbing. You get a tick list, it’s numbing. How do you know if you can handle any of these things? Disabled, stupid, mentally disabled, HIV positive, handicapped, potential killer, parents were drug addicts, under 11, over 5. If it is of your own womb it is your own fault, if it is from someone else’s it isn’t. You aren’t thinking about a human, your thinking value for money, traits, nature verse nurture. I say all this and I don’t know because I’ve never been a mother and at this rate I never will be.

Adoption is a difficult choice, it is not an easy alternative, no wonder so many 40 something potentials go for I.V.F and that emotional angst or if they are really rich they buy a ‘foreign ‘baby. We are not even 30. ‘Young’ like the woman said.

I want to give love and help a child, or children, be wonderful people, I want them to play music, like art and enjoy my company. I want to give advice, watch them grow and help them fulfil their dreams. I want to be proud of them. Is this too much about what I want? Really, if you think about it having children is the most selfish thing to do.

I’m a teacher. I want. I’m scared.

I’m not a mother. Should I be?

It is ten to ten

19th February 2006

2006-07-28T11:56:00.000Z

I’ve been on holiday (half term) and I’m feeling refreshed. Being at home brings back memories of my brother. He would have been 32 yesterday.

This time of year is hard, it is made difficult this year because of waiting for test results. Been here recently, and before.

Dad is almost definitely going to have to have another operation or two. I love my dad, he is gentle and kind, he doesn’t make this disease a big deal.

It is.

On TV is ‘Honey We’re killing the kids.’ The irony isn’t lost on me. I was looking at adoption information today on the internet. It didn’t make it any clearer; the fact that adoption is complicated and fraught with pain and angst doesn’t make me feel any better about it. The fact that we are only likely to be able to have a child with previous history of serious trauma makes me wonder if VHL is really that bad. Oh bollocks. Please just let me get pregnant by accident and it not be a choice, just let it be.

50/50

2006-07-28T11:55:00.000Z

It's a 50% chance of passing on my disease to any child i/we have

Would you take the chance?

A history lesson

2006-07-28T11:45:00.000Z

It occurred to me that a context may be needed and although I don’t intend to put my name on here if you do know me well then you’ll figure out who I am through details. What’s happened to me over the past 27 years is rare.

Here goes

My genetic Gran (on my dad’s side) died of a brain tumour 50 odd years ago, when they did an autopsy they found an adrenal gland tumour too.

As a young boy my dad kept fainting and they took him in and cut him open and found an adrenal gland tumour the size of a grapefruit. (no beta blockers or anything)

After I was born they found he had a brain tumour, which was removed. Then some clever Dr asked some questions and suggested that he might have Von Hippel Lindau disease. The clever Dr was right.

My parents had had 3 children. Dad got more tumours!

Ten or so years later they did a high risk/low risk test for the children. My brother and I were high risk.

My brother and I and my dad were screened annually for various tumours.

In 1995 they discovered a tumour on one of my brothers adrenal glands. They removed it. The operation was successful but then something else (they don’t know what) went wrong. His brain swelled and crushed inside his skull. He was brain dead. He was kept ‘alive’ for three days then they turned off the machines and he died.

The following year they found a tumour on one of my adrenal glands. It was removed. I didn’t die.

In 1999 I had my second adrenal gland removed

In 2000 I had a brain tumour removed

In 2001 I was told I had a tumour on my optic nerve

In 2003 (I think) they found that I had a crinkling of the maclia (I don’t think I’ve spelt that right)

In 2005 I was told I had a small tumour on my spine, later I was told there were 2.

I’d tell you all of my dad’s tumours but it’ll take too long.

Positivity

2006-07-28T11:38:00.000Z

For the record I am a positive person and I feel that on balance I am incredibly blessed, I have so many wonderful things in my life, I am, in theory, a very healthy person and I live a full active and enjoyable life. I like my job and I have a great family and superb friends, and I don’t use that word lightly. I just feel like I want to reflect on the part of my life that isn’t great so overall this blog may seem down or depressing. I can assure you that for the vast majority of my life I’m neither down or depressed. When I am I’m most likely going to post it here. Please bare that in mind if you are a regular reader (do you see my optimism – I expect regular readers!)

Diary of a Genetic defect

2006-07-28T11:13:00.000Z

The story so far

I’m creating this blog because when I was sitting next to my dad a few months ago now in St Barts Hospital, he was having some blood taken, a slightly batty woman, who was a nurse I believe, saw me laughing at my dad who had to lie down and he was getting grumpy about it as he ‘needed a pee’ as he put it. The woman seemed cross that I should be laughing at my dad’s misfortune and commented on the fact that I wouldn’t like it if it happened to me. To which my dad simply said. ‘She’s got it too.’ We looked at each other and smiled, he rolled his eyes and the batty nurse launched into a list of questions. She asked if I belonged to nay help groups, which I don’t but I did say that I’m on the email list of the VHL alliance which is based in America.

‘Oh,’ she said, ‘you should write about it, it would help so many people.’ Now she didn’t know me at all, all she knew was I had a genetic disease and I was over 20. But it made me think, maybe I should. A long time has passed and I’m going to write about it.

The disease I have is rare so there won’t be many people who have it or who want to read about my experience of it but maybe other people who have genetic diseases or are friends or family if those who do might find it interesting. Even if you don’t I find it calming to write about it and have done in diary format for sometime.

I’ll start from now but I might have to fill you in on the past from time to time.

I am female, I am currenly 27, I live in north London, I am a full time teacher. I have a mortgage with my long time partner.

The disease is Von Hippel Lindau Disease or VHL if you are in the know.

http://www.vhl.org - if you want to know more.