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.
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| 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.
Cambridge University Research
BBC Three Counties Radio 16th June 2015 (just past half way through)
BBC Look East Report 17/5/15
BBC Three Counties Radio 16th June 2015 (just past half way through)
BBC Look East Report 17/5/15
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.
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