|Gold finch on the pond|
|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|
|Mother's day treats|
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|
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.
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: