A Positive Day

It's been a really good day today as I felt well enough to visit the John Henry Newman School in Stevenage, where Rob and I gave a talk to the sixth form on organ donation, transplant, my book 'Life is for the Living' and the important work of Papworth Hospital and Papworth Hospital Charity. 

The school has chosen to support us in raising awareness of Pulmonary Hypertension and organ donation and help us raise funds for Papworth Hospital Charity during this autum. They are holding several events over the next few months, including a non-school uniform day, a book signing evening and a Christmas concert, which is fantastic. 

It's quite poignant that our first event today was at the beginning of November as November is the month when the campaign for raising awareness of Pulmonary Hypertension is launched - the rare and incurable disease I had that led me to having a heart and double lung transplant. Pulmonary Hypertension is high blood pressure in the blood vessels in the lungs, eventually causing damage to both the lungs and the heart. There can be different causes such as congenital heart disease, autoimmune disorders and, as in my particular case, it can suddenly just start for no apparent reason and is then known as Pulmonary Arterial Hypertension. 

Having been under the weather and still waiting on more tests, today had been another day that I'd been looking forward to and hoping I could still manage - one of those motivators to try and do something positive in between a time of what feels some uncertainty yet. It was a wonderful opportunity to speak to an audience of circa two hundred people about these important issues that are so close to our hearts. There was lots of interest, lots of leaflets given out and lots of discussion amongst the sixth form on organ donation. Our main message on organ donation was the importance of having that discussion with your family, so everyone knows what your wishes are. 

All in all a very positive day for us and the start of more activities and exciting things to look forward to in these next months leading up to Christmas. 

Happy Retirement

Retirement. It's what many of us eventually strive towards, once we've reached all those career orientated goals and are beginning to think it's time to spend time on ourselves more, do those things that we may have always wanted to do, but can't ever fit in between our busy work lives and other commitments. It's something we may think of when our children have flown the nest and are happily established in their own adult lives and we can relax and let go a little. 

The retirement situation has been a little different for Rob and me, but yes, Rob has now finally retired from work. This is after quite a bit of stopping work and then starting again because of my ill health over the years and that's how things have been a little different. Of course, we tried to make the most of all the time he's taken off work, but during those years our time has been peppered with some extreme health issues. It's been a series of high highs and low lows. A rollercoaster until I received my transplant and transplant still does not come without its ups and downs and trials and tribulations. Having transplanted heart and lungs is a condition that needs to be permanently managed and does usually come with a shortened life expectancy. We are forever aware of this. 

We decided at the last minute to go on a city break to Budapest to celebrate Rob's retirement. We had a few reasons for deciding to do this, obviously his retirement being a big factor and being yet another excuse to celebrate, as life is so precious nowadays and we don't need much excuse. It's a case of when the going is good, try and reach for the stars while you can and while they're there in front of you. 

I don't think Rob was that bothered about travelling abroad though, when I first mentioned that maybe we should do something special to celebrate his retirement. We'd been very fortunate and enjoyed a few lovely weekend breaks and holidays in England this year. We've had so much beautiful weather too, which seemed to be continuing on and on. 

I felt quite strongly we should mark it with something special though, as Rob was forced to quit his career when I fell poorly and became my carer almost overnight following my diagnosis of Pulmonary Arterial Hypertension (PAH).  I literally had to walk out of my career too. There were no 'leaving', 'retirement' or 'moving on' celebrations, the usual get togethers with colleagues for a farewell drink or meal, we merely walked out on our usual routines and daily lives and careered head on into a battle for survival, uncertainties and the unknown. 

On retrospect, we couldn't ever halt or change how things happened and the course of what was to come and I've managed to survive and have improved health so that's all that matters for us both. I've always felt guilty and saddened that Rob had to give up so much to live with an uncertain future and I was pleased he'd been able to return to work since my transplant, albeit being part time and contract work, which suited our situation. I felt it was good for him to have his work, the opportunity to be in the real world and not always being in what has become our other world of hospital and transplantation. 

This time around Rob has decided for himself to retire and I'm delighted he's been able to have this opportunity without it being forced upon him; that he's been able to make his own deliberate choice. It feels like the more normal and planned for retirement I think he always deserved. That's the main reason I felt his retirement should be marked somehow; to make some sort of stance that we got there in the end; that we've both reached retirement together although we went a long way round to achieve it. 

It's been a lovely time for Rob during his last few days at work, enjoying celebrations with his colleagues and being able to leave in what has been a more usual manner. I've felt so pleased, after all the years of him struggling with work on and off because of my needs, that his working life has eventually finished on more of a high and more how he would have planned and dreamed of before I ever fell ill.

Another reason why I wanted to travel abroad again was because of my health. It's been a year since we travelled abroad and I know that I've been really fortunate to be able to do lots of travelling since my transplant and especially visiting several countries abroad during my second year post transplant. My health has been more challenging this year though. 

It started with a difficult bout of CMV virus last November, which resulted in being hospitalised for weeks and over Christmas, being unwell for a few months and has been what seems an ongoing battle to keep it under control, prevent it reactivating and dealing with the resulting havoc it has caused ever since. This manifests itself with stomach and colon inflammation and ulceration and the associated pain and severe fatigue. I've worked hard to try and overcome this with diet, exercise and pacing myself more. My transplant team have also been more than helpful and are still monitoring me very closely and regularly, adjusting my medications so things are kept in good control. I'm still having monthly CMV tests and clinics more regularly than I had been, which I'm happy about, as it gives me the reassurances I need.

I'd had to cancel quite a lot of things we'd been looking forward to during some of these difficult periods, so I could recharge myself, help myself better and get myself back to the good health I'd been enjoying since my transplant. Regaining my health was the most important thing, so it didn't matter so much to have to cancel in the scheme of things. It's always good to plan things to look forward to, but if things don't go as planned, it really doesn't matter. We accept this happening as part of our lives now. Attempting to go abroad again though, felt like it would be a big step. A step that would be a small victory against all this year's health problems and show myself I can overcome them and still make the most of everything life offers when the going is good. 

We love city breaks and seeing new cultures and places and this time we chose Budapest -  we've drawn ourselves up another list of cities and places we'd like to see and this was a favourite. We managed to have a wonderful time, exploring yet another new place, seeing new sights, enjoying more beautiful sunshine, having fun and celebrating retirement and life. It was another chance to live life to its fullest before we reached the end of my third year post transplant and it always goes without saying, all thanks to my donor.

Of course, we don't take this period of 'retirement' for granted. Reaching this stage in life is an enormous bonus, it's something many people don't have the chance to have, so I see growing a little older as a complete priviledge not something we should moan about. I often laugh how the government keep changing the state pension ages - I know it's not a laughing matter really. State pensions are becoming ridiculously out of reach for the healthiest of people. Everyone worries about how they will manage, but I know if I'm ever lucky enough to reach the sixty seven years it is currently, then it will be a nice problem for me to have. In the meantime, Rob and I plan to keep ourselves busy with things that mean the most to us and keep on enjoying life to the full. 

Hope and Breakthrough News for PH!

I'm still involved with a genetics study to enable a better understanding of PAH and enable better treatments. Although I don't have PAH any longer following my heart and double lung transplant it is still possible for the research team to use my DNA samples, so I'm still giving blood samples from time to time. The genetic thing first became all important to me because I literally had no idea why I had PAH and was scared that my two girls may have it.

My PH team kindly referred me to Addenbrookes and although there was no formal testing for PH genetics at the time, I was lucky because they were about to establish one and establish the research into understanding the genetics of PH in the hope of getting some breakthrough for new treatments.

Filming with BBC Look East

When you're diagnosed with PH it is a very frightening time, no matter what stage your PH is in. For me,  I was in end stages, so I was put on intravenous medication within a few months then referred for a heart and lung transplant. I was told I wouldn't have long to live and perhaps only have two years of quality life left and then in the same breath told it may take up to two years or more to get my transplant. It was a stressful and scary time. With the shortage of organ donors, it is a very difficult to get three organs. Organs can be split to save two or three lives instead of saving one and only a couple of transplant centres still commit to undertaking them - I was lucky - lucky in so many ways.

Sometimes during my life I've complained I've not been in the right place at the right time: the sun shone on me through my illness though - I was being treated in a centre that believes if you need three organs then that's what they will strive to get for you and I was under a transplant team who had a lot of expertise for this rare operation. I was also lucky I was under the excellent care of a superb specialist PH team and they knew exactly what to do every time I met a crisis and saved my life more than once. I was more than blessed on that day I received my transplant, that day a family said 'yes' to organ donation and that my donor had believed in organ donation. It is all a very hard route to go down though, however blessed you are - and I know for some this route is even harder. For many even transplant isn't an option for various reasons.

When you are first diagnosed with PH, it doesn't really matter what stage of PH you are in: mild, moderate, severe ... it is all very frightening. You know it is a chronic and incurable disease and it doesn't matter how well you are doing or how positively you manage things, the fear is always there about the future. You know the disease may progress, then you will need more treatments ranging from oral medication, oxygen to intravenous medication and then for some more complicated and life threatening surgeries such as Pulmonary Endarterectomy, lung transplant or heart and lung transplant. You fear a future of disability and you are afraid of dying and your family are terrified what will happen to you and them next.

Even undergoing the life threatening surgeries to remove PH, a cure as such isn't truly found. Often with a Pulmonary Endarterectomy, there are still remnants of PH and distal blood clots, which require life long management and drugs and with a lung or heart and lung transplant the survival rates are only 50% at two years. I was also informed I would have a 20% chance of not surviving the operation or the first year after my heart and double lung transplant. It is a hard route to be faced with and all any family, who has been affected by this disease, wants is to know there may be a cure - know that somebody somewhere is doing something to help them, something that may save their future.

Last week I was contacted by the British Heart Foundation, who have provided funding for research in the genetics of PAH and was informed there had been a breakthrough in the research. The research is being undertaken by a team led by Professor Nick Morrell at Cambridge, who is both a Research Director for the PH service at Papworth Hospital and a British Heart Foundation Professor of Pulmonary Medicine. 

A protein, BMP9 has been discovered that can counteract the damage that is done by PAH to the cells in the blood vessels of the lungs: it can prevent narrowing of the blood vessels and also restore damage. The research has found that patients with PAH don't make enough of this protein. Tests carried out have shown that it is easy to manufacture and therefore could possibly restore the blood vessels in patients lungs to a healthy condition. 

More testing, research and patient trials have yet to be done and it will take some time yet, but this is a major breakthrough for the treatment of PAH, both inherited and idiopathic and hopefully if things come to fruition, then for patients with secondary PH too. This news brings so much hope for patients who are suffering with PH and facing difficult choices about treatment in the future and so much hope that anyone being diagnosed in the future will have chance to be cured and not face the long and gruelling route that patients must endure now. 

I was asked if I would help with the media launch of this breakthrough, as I've been involved with the genetic research and suffered with end stage IPAH and the difficult treatments. On Tuesday, I was interviewed live on BBC Three Counties Radio talking about what it is like to live with PAH and how this research breakthrough is such a significant step for patients suffering with it. On Wednesday, reporters from BBC Look East visited our home and interviewed me for an article for the 6.30pm and 10.30pm news later that day. I was delighted to help, not only to share the promising news that gives families so much hope, but to raise awareness too of what this cruel disease is like to live with and the difficulties of the treatments we have to face. Also, PH is regularly misdiagnosed, so to be able to explain its symptoms on TV and radio, could possibly alert someone to the condition - the earlier a diagnosis, the better the prognosis.

News Reports

British Heart Foundation Press Release

Cambridge University Research


BBC Three Counties Radio 16th June 2015  (just past half way through)


BBC Look East Report 17/5/15

Article in the Guardian news 21st June 2015

The hope of a cure is something anyone diagnosed with or affected by this disease hopes for everyday and now things look like they may be getting nearer ... I truly hope so - it would be such a wonderful thing.

The 100,000 Genomes Project

On Thursday we were invited to attend a media event for the '100,000 Genomes Project' at the Sanger Institute in Cambridge. This was because some time ago I had had some genetic testing done and had also given a sample of my DNA for a genetics research study of PAH, which is presently being undertaken by Professor Morrell, Head of the Cambridge Centre of Research Excellence.

This project involves sequencing the entire genomes of 1,000 patients with Pulmonary Arterial Hypertension. They hope to discover the entire inherited basis of PAH and establish the frequency of all known genetic mutations that are responsible for the condition. There is hope from this work that it may be possible to introduce a screening programme that can identify those at risk, provide better information and reassurance for families and also identify new ways to treat the disease. 

The '100,000 Genomes Project' is a project backed by the Prime Minister and is being delivered by Genomics England, a company wholly owned by the Department of Health. It has been set up to deliver the sequencing of 100,000 genomes from NHS patients with rare diseases and cancers by 2017. It aims to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights and start the development of a UK genomics industry. Genomics England are working in partnership with Illumina, who will deliver the infrastructure and expertise services for whole genome sequencing. 

We arrived and were warmly welcomed by the team from Genomics England and we were ushered to the lecture theatre where the project was explained in more depth to us by Sir John Chisholm, Head of Genomics England and the newly appointed Minister for Life Sciences, MP, George Freeman. We were then shown around the research labs and it was explained how the genome sequencing machines work. By this time we had been joined by a television crew, who were filming for all the major news stations. 

There were two other patient representatives, who had also been involved with genetic testing for other rare diseases and we were each interviewed about our stories and what genetic testing meant for our families. I explained how we had had our minds put at rest because it had been found that I did not carry the two main gene mutations associated with inherited PAH, which means that it is highly unlikely that Sarah and Rose will develop PAH. I had idiopathic PAH, so I'm always trying to make sense of why I might have got it. 

I also explained how giving my DNA sample for the PAH genetic research is still important to me, because the research will hopefully lead to a better understanding of the disease and hopefully better and more focussed treatment for both PAH patients and patients who have PH for secondary reasons. I explained how the PH community had a lot of hope for patients getting an earlier diagnosis through better genetic knowledge; how I hoped future patients would not be faced with having to take intravenous medication or having to make life threatening decisions about whether to undergo transplantation and also how the research may give more hope to those who haven't got the option of transplantation. 

We were told the news reports would hopefully be on all the main news channels on Friday, when there would be announcements from 10 Downing St about the '100,000 Genomes Project'. The project was moving into a new phase as contracts were being signed at Downing St that day with Illumina, who are providing the infrastructure and expertise services for the whole genome sequencing process. 

We were also invited to 10 Downing St to this event, which is set to revolutionise the future treatment of patients and make the UK's NHS become the first mainstream health service in the world to have genetic medicine as part of patient's routine care. 

We put on the main news on Friday morning and didn't really know which one to watch, as the story was running on every channel! We found we were on BBC and Sky main news. Then we had our local radio station trying to interview us and Anglia News! It was busy and telephone signals were bad as we were in London. In the end we managed a telephone interview with the radio.

It was exciting to arrive at number 10, we have never been there before, only on the other side of the railings peeping through! It was wonderful to have been invited to attend. 

We were well looked after at both events and were introduced to and chatted to many others attending including: other patient families, Genomics England and Illumina staff, Life Sciences Minister George Freeman, Chief Medical Officer Dame Sally Davies and Sir John Chisholm. 

George Freeman, Minister for Life Sciences hosted the event and contracts were signed between Genomics England and Illumina ready to launch the next phase of this exciting project.

We were also lucky enough to have a tour of Downing St too. We weren't allowed to take our mobile phones with us or take photographs, but we had a professional photographer who accompanied the party for the event and therefore we've got some super photographs to mark the occasion. 

News Links featuring me and Rob: 

BobFM Herts and Home Counties

http://www.bobfm.co.uk/news/local-news/knebworth-woman-heads-to-downing-street-as-prime-minister-launches-dna-project/

Sky news 31/7 (video)
http://news.sky.com/story/1311189/pm-hails-300m-project-to-unlock-power-of-dna


ITV Anglia News (video)
http://www.itv.com/news/anglia/2014-08-01/landmark-research-project-to-map-dna/



Other Relevant Links/ Reports 

ITV News 31/7
http://www.itv.com/news/2014-08-01/massive-genetics-project-hopes-to-revolutionise-medicine/

BBC News 31/7
http://www.bbc.co.uk/news/health-28488313

Genomics England Website
http://www.genomicsengland.co.uk