Breakthrough for Pulmonary Hypertension Treatment

Last year there was a significant breakthrough in the genetic research into Pulmonary Arterial Hypertension (PAH) being led by Professor Morrell at the Cambridge Biomedical Research Centre. Professor Morrell is both British Heart Foundation Professor of Cardiopulmonary Medicine and Research Director, National Pulmonary Hypertension Service at Papworth Hospital.

A protein was discovered that targets the effects of and reverses the damage caused by a faulty gene BMPR-11 - this faulty gene is the main identified gene for causing inherited Pulmonary Arterial Hypertension. I have put the links for more detailed information on the research project and on the breakthrough discovered last year below.


The Genetic Research Project


BHF Press Release 2015


This week it was announced that Morphogen-IX, a new Cambridge based biotech, has gained seed funding to develop a new treatment for PAH, following on from the findings last year. This drug will directly target the disease and has the potential to provide the first disease modifying approach to the serious life limiting effects of PAH. The current therapies for PH and PAH help to alleviate symptoms, but as yet there are no medical options to modify the course or outcome of the disease. The company will be solely dedicated to developing a therapy that will tackle the disease rather than just manage its symptoms and they have received grants of 1.5 million to develop the drug. The link below gives more information on Morphogen-IX


Morphogen-IX


This is marvellous news for the Pulmonary Hypertension community - we always live in hope that a breakthrough will happen and that eventually a cure will be found. When a person is diagnosed with PH it is both shocking and life changing. Whatever stage of PH you are in, you know that you face a long journey of hospitals, doctors, tests and treatments. The treatments for PH vary depending on the type of PH and the stage of severity that the PH is in - they vary from oral medications to complex inhaled medications and intravenous medications, which are very daunting to face. There are some surgical alternatives for some patients such as Pulmonary Endarterectomy, Lung Transplantation or Heart and Lung transplantation - high risk surgeries that again can feel terrifying to face. For some there are no surgical alternatives, just therapies that manage the symptoms, although the disease progresses. There is also the knowledge that PH can be a life limiting disease and that you face a future that is uncertain and with some disability.

To know that there is research and development of a drug which may reverse the effects of this devastating disease is wonderful news. These new developments bring so much hope to so many. Hope that they may not have the future they are presently having to face - one of complex drugs, surgeries and one that is potentially life limiting - and hope for a future that could change for the better.

The announcements that this new drug is going to be developed demonstrates great progress has been made with the genetic research. The new drug will then need to be put through the various clinical trials. We wait in hope for more announcements when developments reach this stage. In the meantime there are other drug trials in progress, where it is hoped that symptoms in patients may be helped and controlled better and again, even modified. One is a trial for Tocilizumab, which is currently used for arthritis and it is hoped it may modify PAH too. Again more hope. A link for more details on this is below.

New Clinical Drug Trial

On a personal note, although I don't have PAH any more after undergoing a heart and double lung transplant as an end stage treatment, I'm delighted there are these new developments to help PH sufferers and that there is some hope for the future. I have a keen interest in the genetics research as I underwent genetics testing and took part in this genetics research at the very beginning of the project. I still take part in the research and last year gave more DNA as the project moves on forward and I was given information about the possibility of second generation testing, so it is still of great interest to me. It was an honour to take part in the publicity process about the genetic research and the breakthroughs that are happening over this last week.


















My story and involvement with genetic

This week I had the opportunity to take part in an interview with BBC Look East and on a fun note the pictures show my new puppy, Ted making his TV debut in his first ambassador role for PH! Visit my author Facebook page and scroll down to find the whole interview with BBC Look East, Professor Morrell, the research team, Ted and me.

Life is for the Living Facebook page


The 1.5 million funding raised for the new drug will now build on the work of the project funded by donations from the British Heart Foundation. The funding from BHF is vital in developing this research. Their link is below.

British Heart Foundation

We live in hope!

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.

March, a Dechox and Genetic Research

When I arrived at clinic the other week I was greeted at reception then asked if I could sit and wait instead of going off for all my usual rounds of tests. I was advised that someone was going to chat to me about my blood tests. Feeling a little confused I sat and waited and wondered what it all might be about. At first I was worried something was wrong with my last blood tests I'd had at the doctor's that had now come through, then I decided they must have me muddled up with someone else and when 'the person' came to chat to me they would realise they'd got the wrong patient!

Eventually it turned out the PH Research Team wanted a chat about the Genetic Research they are currently undertaking, which I had taken part in at the outset a few years ago. Although I don't have PH, my DNA is still the same constitution so they can still use it and I am able to continue in the research project. They asked if they could take some further blood samples and obviously this could be done alongside the blood samples that were being taken for transplant clinic, hence trying to see me before I wandered off and had my tests done! 

The study is planned to include relatives if it determines the need in the future. It includes looking for the presence of known mutations in genes that can cause PAH - which in my case has already been done and fortunately I'm clear - and it also includes looking for other new mutations that may cause it and this is where my DNA will still be useful. PAH patients taking part will go through other regular testing, which will run alongside their usual clinic tests, but as I have been transplanted, I will only have blood tests. There may be a time in the future when my daughters will take part, but only if they wish to. The studies will involve part or whole genome sequencing. 

No more cakes until April!

The study is being supported and funded by the British Heart Foundation and this brings me on to March and the Dechox challenge. The Dechox Challenge is being run by the British Heart Foundation so that they can raise funds to enable them to continue supporting vital research such as the 'National Cohort study of Idiopathic and Heritable Pulmonary Arterial Hypertension', which is the study I'm taking part in. They also support research studies into various aspects of heart transplantation too, so as their research could potentially make a massive impact on both mine and my children's future I've decided to take part in the challenge and help to raise some much needed funds.

Last chocolate was 5th February!

The challenge launches on the first of March and I registered to do it a couple of weeks ago just after my clinic. I haven't eaten chocolate since, so my Dechox will go on for over six weeks if I manage to stay the course. I am also going to give up sweets, biscuits, cakes and puddings just for good measure too! If you can help support a good cause, please click on the 'Dechox' link, otherwise wish me luck as the chocolate and cake cupboard is constantly calling and if you know me don't forget how I love Cadbury's Creme Eggs at this time of year!

Kath's DECHOX

A little group of us - all involved with heart transplantation - have joined forces so we can motivate each other along the way - click below to see all our stories:

Team Chocoholics Anon

Thanks to everyone who has sponsored us already and please help us raise these much needed funds, any amount, however tiny is welcome!

This week's photos (first two) were taken on a beautiful winter walk around Elterwater in the Lake District. 

Show Love Today

My friend Terry, who has had a heart transplant, has made a track called 'Show Love Today' with his band, The Street and Mark Moraghan. He has done it to help raise funds for the British Heart Foundation and to raise awareness of organ donation. He has also managed to get the support of all the Coronation Street cast in the process too!

Coronation St is currently running a story featuring Les Dennis, who plays Michael - Gail's boyfriend. Michael has been struck down with a genetic heart condition. The British Heart Foundation are currently funding much work on genetic causes of heart disease. They gave funding to help the genetic research currently being undertaken by Professor Morrell, at the Cambridge Centre of Research Excellence, on the genetics of Pulmonary Hypertension, so the BHF's research is something close to my heart.

To watch the video and listen to the track click on the link below: it features Terry, myself and some of my transplant friends - some of those we have lost while they waited on the list; some of us who have been lucky enough to receive a transplant and have our lives changed dramatically and those who are still waiting. 

https://www.youtube.com/watch?v=qvR_hIgjWIo&feature=youtu.be

We chose this picture for my picture in the video, as it just about sums up what transplant can do to transform someone's life - from using a wheelchair to kayaking once more, something I thought I would never do again! This moment was one of the highlights of my year post transplant!

There are still 3 people a day dying while they wait for a transplant, so come on, 'Show Love Today' and sign up to the organ donor register. Click below to order the track and support BHF: 

https://itunes.apple.com/gb/album/show-love-today-single/id945497551

The link to sign up to the register is listed below. 

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

And now it's June

'This is the month of June,

The month of leaves and roses,

When pleasant sights salute the eyes

And pleasant scents the noses.' 

Nathaniel Parker Willis

Another week has rolled by and June has arrived bringing with it, wall to wall and beautiful, warm sunshine. At long last. It has been a lovely week to get the garden sorted and tidied and cleaned up and all set for summer and a lovely week to spend just enjoying it. Rob has been busy blasting clean the patios and planting all the summer pots and baskets for me and because of the surge of warm weather everything is now bursting into life. We have planted a new herb garden and I've sown lots of wildflower seeds this year, so we will see what happens...

It has been a bit like 'Springwatch' in our garden as great tits and blue tits have been frantically flying to and fro to feed their chicks, which have hatched out in each of the nesting boxes. It feels quite a responsibility when you can hear them all squawking and then the naturally curious cat from next door is on the prowl: we don't wish to scare off either the cat or the birds, so we have been trying to carefully distract the cat. If the adult tits get scared they will abandon their nests. I was hoping to see the fledglings fly the nest, but the blue tits cheekily disappeared in the early hours of the morning one morning, long before I got out of bed and hopefully they are safe and healthy and now flying around the vicinity. The great tits are still hard at it, so I'm keeping an eye out for some action!  

We had good news about the next round of genes testing I had had done at Addenbrookes Hospital and the Genetic Consultant has confirmed that I do not carry the other main inheritable gene for PH, gene ALK1, so as a family I think we can rest easy now that the girls will be safe from Pulmonary Hypertension because of family history. There was only a very small risk I may carry this gene, but if it was confirmed I carry it, then the girls would have been at some risk. So that is the genetics testing all finished for now and the common causes for developing familial PH have been ruled out, unless they come up with something new or have a major breakthrough.

This week's wheelchair adventure was to Hatfield House to their annual garden fair. It was a lovely sunny Sunday and perfect for a picnic and a browse around the beautiful grounds and fair. Enjoy this week's photo show, the picture of the house is Hatfield House by the way, not mine just in case you were wondering!

  

June

The fountain murmuring sleep,

A drowsy tune;

The flickering green leaves that keep

The light of June;

Peace, through a slumbering afternoon, 

The peace of June.

A waiting ghost in the blue sky,

The white curved moon;

June, hushed and breathless, waits, and I

Wait too, with June.

Arthur Symons

It's now come round to June again, two years since I was referred for transplant assessment and I have been waiting 628 days for my heart and double lung transplant. The situation is beginning to feel beyond hopeless and we desperately need more organ donors and for organ donation to be part of our culture. Three people a day are still dying while they wait for a transplant and so far I have been one of the lucky ones being well enough to remain on the transplant list and keep on waiting the long wait, although tragically 1884 people will have lost their lives while I've been waiting. Still only 31% of the population have signed up to be organ donors and yet over 90% would accept an organ from someone if they thought they were dying. 

If you want to help and sign up to the organ donor register click on: www.nhsbt.nhs.uk/   

A Special Mother's Day Gift

Gold finch on the pond

Being diagnosed with Pulmonary Hypertension is always difficult; difficult for some because it develops as a secondary condition to an already debilitating chronic illness and difficult for others like myself because it just starts out of the blue and there isn't ever a reason found why you have got it. After having extensive tests, which lasted for months and were repeated at times, doctors found no reason for me having PH other than it had just started on its own and something in my past history may have triggered it: things like an emotional upset, something environmental or even childbirth. Well I have had all of those in my life, so it really didn't explain anything.

For me this feels like a difficult thing to bear and at times I wonder where on earth it all came from. Some people may not bother at all about this, I suppose the fact is if you've got it, you've got it and it just has to be dealt with. I'm a person who likes to understand how things work though and why and like to get to the bottom of matters so I can understand them better and make more sense of what is happening. It has always helped me along the path of this illness to understand it better, so I am in a position to make informed decisions about what steps are necessary in my journey to overcome it. That is just me and how I am.

Daffs in the garden, hope they don't spoil in the snow we are expecting! 

With Idiopathic Pulmonary Arterial Hypertension (IPAH) like mine something changes in the structure of the cells that line the insides of the blood vessels in your lungs, this starts to happen long before you have any symptoms that something is wrong. The cells on the outside of the blood vessels then start to try and compensate and in time they become thick and hardened and tighten and constrict. The blood vessels in your lungs effectively remodel themselves and stop working properly; it is difficult to get blood from your heart through your lungs and your heart has to work exceptionally hard to do this and that's when the high pressure builds up and the right sided heart failure begins to take it's toll.  It was alarming to find out all of this in the early days of diagnosis, but the only thing making it bearable was that it was happening to me and not one of my girls.

Just peeping! A little flurry of crocus

There are only 1 -2 cases per million people of IPAH in the UK and it is three times more common in women and one of the biggest thing that kept whirring round in my mind over and over again in those early days was whether I might be passing on this cruel disease to my girls and I was terrified where it all may end. As far as I was aware there was no one else in my family with this disease, but who would really know as it's a relatively modern disease with treatments only developed over the last twenty years or so and let's face it most medics today haven't even heard of it. I did know my grandad had died of heart failure and it was attributed to poisonous gas affecting his lungs in the war, so I had a bit of a doubt growing from that I suppose. So I broached the subject of genetics while I was in hospital at Papworth and fortunately just happened to ask a very knowledgeable doctor who was on the ward at the time, who had recently been working with the Papworth Research Team. He very kindly included some information for my GP in the letter he wrote to my surgery about my hospital visit and my GP agreed to refer me to Addenbrookes Hospital in Cambridge rather than to a more local Genetics Consultant within my Primary Care Trust. So I was really lucky to have this support.

Mother's day treats

The reason for the referral to Addenbrookes was that here they were just about to set up genetic testing for Pulmonary Arterial Hypertension (PAH), which at the time was not available to the UK genetic testing network, so we would probably have drawn a blank should we have been sent to the local hospital. When we got to Addenbrookes we were only the second family that they had seen, so we were right at the very beginning of this project and funding was still being sought to get the testing underway. The consultant was really helpful, gave us all the time we needed to ask questions and explained a lot about what was known about the genetics of PAH and what was planned for the future. He explained how PAH can be caused by genetic misprints or mutations in several genes that regulate the muscular dynamics of the blood vessels in the lungs. Only about 20% of patients with PAH have this caused by an identified gene called BMPR2. A smaller number, only 1% have a mutation in a gene called ALK1 and an even smaller number of families are also recognised to have mutations in two further genes.  So I gave my blood sample to enable the testing to be done. It would work like this: they would test just me for the known genes and then if they found I had mutations in these, they could then have a predictive genetic test for the girls.

Lakeland daffodils

The consultant also explained how funding was going to take several months as it was part of a larger national effort on behalf of all the UK PH centres to study the genetics of IPAH. They plan to take DNA samples of 1000 IPAH patients and undertake large scale 'next generation DNA sequencing' to see whether they can find entirely new mutations in other genes. If this is successful it may lead to new classifications of PAH and then they may be able to trial how different categories of patients respond to various treatments. I have given blood samples to be part of this study too. I do believe that sometime in the future a better understanding of genetics will lead to the breakthrough we need to cure PH. There is such a long way to go though.

To go through this process of genes testing obviously opened up a whole new can of worms for my family. The girls had been really keen to go ahead with all of this, right from the outset. They said they would rather know what they may have to deal with and be ready for it, rather than just go haphazardly through life never knowing. They were well aware that it may be better to be tested regularly if they carried the BPMR2 gene as if PH was to develop it could then be picked up and treated early. The earlier PH is treated the better prognosis you have. We decided that it would be best to take it just one small step at a time though, with no pressure on anyone as each stone may be unturned. It had to start with me and Rob and I were given an awful lot of information to help us, if a time came that the girls needed testing the consultant was happy to spend time with them and it would be totally up to them to decide whether to take matters further.

Faithful pansies, out in all their glory after a sunny Wednesday

For the gene BPMR2 there is only a 20% chance I may have it, there is a 50% chance the girls will inherit it if I do and even if they do inherit it, the gene may never be triggered to cause PH. So, understandably many patients do not want the burden of this and many people think what's the point of knowing you carry a gene and then worrying all your life when nothing may never happen. It is a difficult one that needs lots of consideration and therefore although we all felt we wanted to go ahead with it, we did so with a little trepidation and also with a view that we would need to revisit at each step of the way as we went along. However, my sample also went anonymously into the bigger project too and they will be able to proceed whichever way they need for that and for however long, so I have been glad we got involved.

I know there are some patients who say genetic testing for PAH is a waste of time and funds, but I disagree totally. I can only say that if it helps families to know and cope with the illness better then it is worth it just for that. Other people with more common diseases are entitled to automatic genetic testing if they want, but people with rare diseases like ours are not just because of funding, so I embrace the fact that something is now being done about that if PH patients so want it. Ultimately anyone who does go down this route is giving the PH research teams a whole lot of new data to use into the bargain and this wealth of data will bring knowledge and knowledge brings power. Power to start tackling this horrific disease in different ways. The genetics researchers also believe that if they can understand the genetics of PH better, then all PH patients may ultimately benefit from the findings, whether their PH is inherited, idiopathic or secondary to some other disease. So, personally I think genetics testing is well worth every penny.

Our consultant kept us updated over the months, how funding was coming along and how the laboratory process was being set up and eventually, it has taken some time, last week I got the best Mother's Day gift of all, I found out that I did not carry the gene BPMR2, the one most likely to cause the inheritable form of PH, and therefore as a family we were really relieved and delighted. We are still not totally out of the woods as they are preparing to test for gene ALK1 next, but my consultant explained that mutations in this gene are a much less common cause of inherited PH.  For me this is a present that money just can't buy, there now seems little chance that I will be passing on this dreadful disease to my girls and that is priceless.

Of course, it does not answer the question I have often pondered of what did cause my IPAH, but it doesn't feel that it matters so much now as long as my girls are safe; my biggest worry was the unbearable thought of my girls being struck down with this disease too and this has been dissipated now. We have all been unburdened. It has been a long wait and I have tried to put it in yet another little compartment in the back of my head along with everything else while we waited and tried to get on with normal life. I feel like it can come out of that compartment now and it is a worry that can now just float away. We will always keep an eye on our girls though, we know every sign and symptom and we will be watching carefully, every single day of our lives.


We just happened to be visited by a member of the Papworth research team last week while I was there and she asked us what it had felt like to go through this process, she was interested as they were the ones doing the research, but wondered what it felt like to be a patient actually experiencing these things. I think the words, 'worry, angst, trepidation, unsure, apprehensive, anxious' followed by 'relief, ease, comfort, reassurance, pleased, delighted' sum everything up!

We also got another lovely surprise in the post this week from Papworth Hospital, a thank you letter and card from them for taking part in their campaign with ITV News during ITV 'From the Heart' week and a souvenir CD of the ITV News broadcasts from Papworth during that week. So we were really pleased to have a momento of what had been a very busy and exciting week.


It has been a very good week in all followed by a lovely Mother's Day weekend. Rob spoiled me rotten, flowers, cooking meals and pampering me - he will say nothing new there - and Rose and I chatted on the phone - she is away in Bournemouth, but she left me a lovely present and card behind when we saw her last week - and Sarah and Oli came round for Sunday roast dinner, always my favourite time with my family...

147,000 people signed up to be organ donors during ITVs special From the Heart week:

If you want to sign up to the organ donor register click on: www.nhsbt.nhs.uk/

You can help us get the Government looking at organ donation by signing the epetition: http://epetitions.direct.gov.uk/petitions/38220