Monday, 11 March 2013

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...

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