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Bringing new hope to people with genetic diseases
Peter Grainger is a Patient and Public Involvement representative at St Mark’s Hospital, part of North West London Healthcare Trust. He and his family are affected by a genetic disease, so when the Trust joined the North Thames Genomic Medicine Centre in September, he stepped forward to explain how genetic science is driving improvements in personalised medicine – and what it means to the Grainger family.
When you are well, the last thing on your mind is your health. But when we are unable to do things we take for granted, or when we have symptoms we can’t explain, it can be a time for worry.
In 1989 I knew something was wrong. I had put up with blood in my stools every day for months. Until one day I could no longer ignore it.
I was referred to a local District General Hospital.
That Hospital X-rayed me to within an inch of my life. The next day I was told the hospital was sure I had a life-threatening disease called Familial Adenomatous Polyposis – FAP for short. My life was at immediate risk. Prompt life-saving surgery was required. (That was a pleasant phone call.) My world was spinning. ‘Please come and discuss the severity of the situation with the Hospital tomorrow.’ I did.
I chose my colostomy bag and worried about staying alive. I was 32. I did not want to die.
Then one of those life-changing miracles happened. I got the opportunity to come to St Mark’s Hospital, then in central London. I met a wonderful surgeon, Mr James Thompson. He treated me like a son. He could see my world now scared me; that I was not myself.
In minutes he told me what was wrong with me. I had answers to every question. I got my life back under control.
My grandmother and my father, who it is safe to assume each had FAP, never knew anything about it. Only once their FAP was causing cancer, did they know they were going to be killed by cancer. My grandmother and father were born with time bombs waiting to go off, which they were totally unaware of.
I was lucky. When I presented to St Mark’s, the Hospital knew that if unmanaged, colorectal cancer was the 100 per cent likely outcome for all FAP patients. Colorectal cancer can kill. St Mark’s hunted for the evidence I had FAP. They knew precisely what to look for and found it.
Medical science and genetic research moves on. Some years ago I was informed that a blood test was now available to detect my type of FAP, which was 90 per cent accurate. I could be diagnosed from blood extracted from my finger. St Mark’s also knew that any child of mine would have a 50 per cent chance of testing positive. Protection for future patients was being put into place.
When I had children, at 16 they were invited by St Mark’s for blood tests, supported by camera investigation. Tests showed my daughter was at risk.
It’s good to know that hospitals like St Mark’s are helping to predict those at risk of genetic diseases while they are still symptom-free. And that new clinical approaches will be able to provide the right treatment straight away, to the right patient.
Imagine you want to buy a suit. Most of us buy off the peg. We buy the nearest suit to our size and shape. Medicine today is much the same. A drug is used to treat every patient suffering with the condition it was designed for. But human bodies are complex, we all respond to drugs differently. What we all really need is a tailor to produce the suit that fits us perfectly. Just as we need a medicine that treats us individually, precisely, effectively and safely.
Imagine being able to detect a problem in a patient before the patient knows they have a problem. Imagine giving that patient the drug, or the management that will work effectively on the diseased cells, not affecting the healthy cells. That is what is starting to happen today.
My family’s experience with FAP is astonishing. I am the eldest living Grainger FAP patient there has ever been. In the space of 60 years my family has gone from seeing FAP kill every single person in their early 40s to knowing my children would be at risk of FAP before they had names, before they were conceived, before they were born.
In future, genetic diseases will find it much harder staying under cover. They won’t be able to leap out from within and cause mayhem. These diseases are getting easier to predict, easier to follow. We know where to find them. We know how they behave. We know increasingly what to do.
Grandma and Dad, I wish you had the chance of the good fortune I have had. History is not fair. Elissa, it is so comforting seeing you in the hands of the experts. In your treatment I can see how research definitely drives forward good practice.
Thank you, St Mark’s Hospital.
- In September 2015, North West London Healthcare Trust joined the North Thames NHS Genomic Medicine Centre (NHS GMC). There are currently 11 NHS GMCS centres in England contributing to the 100,000 Genomes Project, helping to study the molecular make-up of individuals through sequencing and analysing their whole genome. This is to enable scientists and doctors to understand more about rare and inherited conditions and certain types of common cancer. The Project will also contribute to developing new treatments, and enhance the genomic diagnostic capability in the NHS.
- View further information about FAP
My daughter has fap and has been with St. Marks since she was 20 years old. She is now 37 and needs to have the Whipple operation in Hammersmith hospital. Is there any gene therapy that would save her from the operation and developing more polyps in the future ? Thank you in advance Eileen Hendon
I have a 31 year old daughter who has had a proctocolectmy. Due to a genetic test we found out she has FAP no one else in immediate family has the FAP gene.She is having a very difficult time with eating.She is now on a feeding tube and trying to eat a little by mouth but feels nauseous and has plots of pain and feels full after a few bites.She has also suffered from rectal/anal spasms. Any ideas would be helpful.
If you need medical advice please speak to your GP or call 111.
We have she is being treated here in the state.
I was hoping you would have some ideas on what to do.
I’m afraid we are not in a position to provide medical advice, this would be need to be discussed with your GP.