Pre Implantion Genetic Diagnosis for VHL... The Decision

So June 2009 and PGD edges closer... (this is a long one with all the background, get a cuppa or skip it and just follow my progress in bite-size, 140 character chunks on Twitter.com (VHL_PGD_GIRL)

Since my brain surgery almost 5 years ago, the following 3 months trauma and resultant lumbar-peritoneal shunt (spine to stomach to drain off excess CSF), I've been on an interesting medical and emotional journey:

Although I was 23 at the time and had been diagnosed at 7, it was the first time the reality of having VHL had really sunk in. Dad lost the sight in one eye before I was born but never made any reference to it. We both had laser treatment to our eyes for as long as I can remember but it was often a treat to have a day off school! During my A levels, I'd seen Dad deteriorate very suddenly with a brain tumour but get through surgery and be back at work after two weeks. So I had assumed that’s the way our lives would go, the issues could be serious but the way we handled them was understated, quick and un-fussed. We are screened regularly and under specialist consultants for each faculty. When my brain surgery came around I fully expected to get back to work as quick as Dad. But it wasn't to be.

The surgery itself was smooth. I was home after 5 days and was feeling fabulous. Around 10 days after I woke up to a pool of clear fluid on my pillow. My Dura had not heeled and the fluid that circulates the brain and spine was flowing freely out of the base of my neck. The next two and half months were horrendous. When they managed to seal the exit point, the fluid just built up inside instead. Then came headaches, spasms, vomiting without warning, dizziness, double, triple and quadruple vision (I have funny memories of this now, I could never make out which of the 16 or so medics in the room were talking to me when there were only 4 there in reality!), multiple lumbar punctures, being passed from one hosp to another waiting for beds, A&E admissions, ambulances, steroids, bloating, depression, xmas in hospital etc, etc but worst, the guilt. My boyfriend and family were incredible but the impact on their lives was probably greater than on mine which I felt so responsible for. I had bills to pay, duties as a girlfriend, daughter, sister and friend that I wanted to fulfil and a career I had worked tremendously hard for at Uni and was just carving out in the real world.

At the time I was so low I thought about ending my relationship. I adored my boyfriend and always assumed we’d be married and have children one day and he’d be a wonderful Dad. The way he coped made me fall even further in love with him but the idea of having children began to haunt me. I couldn’t imagine it was fair to bring a child into the world whose Mummy might get this sick again, and if I couldn’t face children it wasn’t fair to hold my boyfriend back. But after the LP shunt was put in, everything fell back into place and those feelings started to fade. As I got stronger physically, I started to believe I could lead a normal life again. I discussed my fears with those closest to me and began to feel I had a right to start a family, to be with someone I loved so much and that with all the support I have around me I could maybe do it, even with the inevitable VHL blips ahead. But if there was one thing for sure, I wanted to find out what options I had to start a family without passing on VHL to the child as well.

I started pursuing the child issue in Feb 2006, having been back at work a full year and discharged from the surgeon. Waiting times in the UK are long, long, long. We got referred from one geneticist to the next, eventually deciding PGD (Pre Genetic Diagnosis) was the 1st option we wanted to try (the other options involve testing whilst pregnant), applied for funding through several different routes, and finally here we are, June 2009, ready to go!

In the mean time my health has been relatively good which is important to me for starting PGD. We are looking for the most stable time in my health to avoid any VHL issues arising during pregnancy if possible. A particularly stubborn angioma in my left eye has been causing trouble since around the age of 19. Persistent laser started to have no effect and I tried avastin with no joy. The docs explored radiation, freezing, surgery etc but for various reasons all options were ruled out and the plan now is to keep the right eye as stable as possible. Sight in my left eye is all but nothing now, just a bit on the extreme left periphery. I get constant kaleidoscope patterns and floaters but nothing you could call ‘vision’! In terms of pain there is very little for now and the right eye thankfully is stable and with it open, I rarely notice the problems in the left.

The latest spine and brain scans show multiple legions but all tiny and of no concern yet. My kidneys, pancreas and 24 hour urine samples have always been clear except for a simple cyst on the left kidney which they measure yearly. This year the scan looked different and a further MRI showed it has bled. Considering its size and zero impact on me in terms of symptons, they are happy its fine.

Whilst I hit a low point when I had the surgery I think it’s important for all those who are alarmed by what I went through or by other’s experiences documented on VHL, that I still LOVE my life. I’ve documented it in this way to explain the process that has led me to chose the PGD route. I don’t talk about it often (hence the over spill here) and that’s the way I like it. I have progressed quickly in my career even though I have so many hospital appointments and am very happy in every other aspect of my life too. 10 years together, the boyf and I have so much fun and I love every minute I spend with him, my family and friends or even just chilling at home with ‘me’! I have very few days where VHL gets me down and until recently it would very rarely cross my mind on a regular basis.

It’s only now with the start of PGD edging nearer that I’ve found I want to talk more about it and Inspire, Twitter, and the VHLFA have been the perfect place to do that. I’ve met so many amazing people with VHL and truly been strengthened by reading their stories.

At first I was blown away by how many people have been through really terrible experiences I had never imagined and my old fears about what may be ahead for me on my VHL journey and the impact that could have on a child, did resurface. I don’t think these fears will ever go completely but I’ve come too far now to turn back. Although I am realistic about the chances of success (which are very low) I’m too excited to change my mind. I’ve only come across one other couple who has had PGD for VHL (amazingly, successful 1st attempt), but I am encouraged by the number of VHL parents I read about who have both VHL and non VHL children and are very happy.

Having children, clearly, is important to me, but I hope to remain level headed throughout the experience. There are tons of blogs about the IVF process on the internet (which PGD involves) so I feel more clued up than I was on that side of things. The process is going to be tough, especially whilst trying to keep things running with my job and home life but I plan to offload all my thoughts onto cyber space and keep the rest of my life as normal as possible! Lucky you!

I hope you enjoy reading about my journey and really hope it might inspire someone else out there to follow their dreams despite VHL...