A Peek around the Path Labs

Ever wondered, as a regular hospital patient, what they get up to with all those endless blood and tissue samples that the doctors keep taking? Well it isn't every day that you are offered a chance to have a guided tour around the pathology labs of your hospital, but then again Papworth Hospital is no ordinary hospital being a world renowned and leading heart and lung hospital. Thanks to Michelle, who runs the Papworth PH Matters Support Group and Dr Mark Southwood a post doctoral researcher at Papworth, a tour of the pathology labs was arranged for our group. I've tried my best to be accurate in my account of what I saw, but I am no scientist, so I apologise now if I've got something wrong, there was so much to learn and see and take in!

Our first stops after being welcomed was the 'Cut Up Room' and the 'Main Laboratory'. Fortunately, no, nothing gory was going on here as we all went through to our first port of call with some trepidation, hearts and lungs being chopped up kept springing into my mind! In here it was explained to us how all specimens handled are assigned a unique pathology number to keep track of them. Tissue samples are examined and dissected and placed in small cassettes, where they are bathed in a fixative ready for processing. The fixative hardens the tissue and prevents the proteins within the cells from degrading. The tissue can then be saved forever. After the tissue is hardened it is ready for the processing machine, which takes about eight hours or so to dehydrate the tissue.

Next on the tissue is embedded in hot wax to form a tissue block and then thin slices of tissue using a cutting instrument can be cut. They are then stained with Haematoxylin and Eosin and then they are ready to be examined on a slide under the microscope. We got chance to examine some tissue slides under the microscopes in the main laboratory.  I couldn't help getting the feeling after teaching primary school science for many years that here is proper, real life, exciting science going on before my eyes!

Next on the agenda was the Immunohistochemistry, Immunology  and research rooms, now we were really getting to the cutting edge of science and we got to see how relative to PH the research in these rooms was too. Sections of the tissue block are treated with antibodies to the specific proteins the researcher may want to test and the slides develop a brown colour when the designated antibody is detected and then it can be detected on the slide where the identified protein is present. We were introduced to flow cytometry, a technique for counting and examining microscopic particles such as cells and chromosones and is routinely used in the diagnosis of health disorders.

It was explained to us about all the different types of research being undertaken including using tissue banking, cell cultures and luminex analysis, all providing a spread of information relative to various diseases and research projects. There is research going on into cytokine signalling in PH and link up with Professor Nick Morrell's team at Cambridge University and the research they are undertaking there on genetics. As Papworth Hospital is a specialist heart and lung hospital, they often have referrals for their expertise from other hospitals.

We went on via the freezer and tissue store areas to the Haematology and Blood Sciences Laboratory, here we were given a talk about how they tested the blood samples and were shown the equipment they use. It was interesting to find out that this department was located at Papworth, but belonged to Addenbrookes. The Papworth site do the more routine blood tests and operate twenty four hours a day and all other blood samples are sent to Addenbrookes for analysis. As well as undertaking the blood sampling, this lab is also responsible for managing the blood stock for blood transfusions that are needed during some of the major heart and lung operations that take place at Papworth. We were shown some examples and shown how it was all stored. I couldn't help asking how much blood they would normally prepare for a major operation, having my transplant operation springing to mind, as I have already prepared and signed the forms to consent for a blood transfusion. The answer was that they usually prepare three bags of blood in readiness, but obviously it is variable.

Last but not least was an optional visit to the mortuary, I'd already decided to opt out of this one, but everything was so interesting and staff so accommodating that when it came to it, it felt like a natural close to the tour. So in for a penny, in for a pound, off we went. We were shown through the family waiting areas and into the the autopsy room. The key emphasis on this part of the tour was how staff gave their utmost respect, care and sensitivity to the deceased patients and their families.

After a busy lunch break back at the library halls, Doctor Southwood then kindly gave us a talk about the research of pulmonary hypertension. and explained in detail the types of information they have been able to gather following analysis in the labs of tissue samples taken from patients who had had Pulmonary Endarterectomy operations and transplant operations and also how this links in with the research work being undertaken by Professor Nick Morrell at Cambridge University in conjunction with all the other specialist PH centres.

All in all it was a very busy day, full of new and interesting information, it really opened my mind how all the information gathered at Papworth comes together to make a centre of expertise that also informs other hospitals and many internal and external research projects. I was also really encouraged at how much work is being done to try and find out more about our disease. Now there is no mystery surrounding what happens after our blood and tissue samples are sent for testing, it has become a tangible thing, we can put faces to the people and we have seen all the equipment, know the processes and all their stages.

On a very personal note I was most interested to hear how much the tissue sampling can help add to the bank of information held on PH and on the funny side I cannot help thinking that one of the first things I will be saying when I wake up from having my heart and lung transplant operation is, 'did you get that bucket with my old heart and lungs in across to the research team?'

I would like to thank all the staff at the pathology and haemotology labs for making us so welcome and being so helpful and all the staff who worked hard behind the scenes to prepare for our visit.

Papworth PH Matters Support Group: next meeting is Saturday 7th September in Papworth, Library Hall. Michelle has arranged for researcher Amer Rana from Cambridge University to talk to us about the latest research going on for PH. The support group makes everyone welcome and is for anyone affected by PH, patients, families and friends. You do not need to be a Papworth patient to attend. 
 
  

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