Some people opted for screening to discover whether they were carriers of genes associated with particular diseases. In some cases this was because the condition had been found in a family member. In other cases they were included in screening programmes aimed specifically at people with Jewish, and particularly Ashkenazi Jewish, ancestry. Others had not been aware of any risk factors and it was not until they developed symptoms that the condition was discovered.
Waiting to get a diagnosis or to find out if you are a carrier of a genetic condition can be an anxious time. Some conditions, such as Crohn’s disease and Factor X1 Deficiency, can be difficult to diagnose so that it can take time to establish the diagnosis. It may take longer if the condition is not anticipated as a possibility. On discovering the relevance of their Ashkenazi ancestry to their health, some people expressed surprise that there had been a delay in their diagnosis.
M is married with one child and is self-employed. Ethnic background/nationality: Jewish
And I just yesterday, by complete coincidence come across a letter that is sent to my professor in Israel which was quite amazing how accurate his prediction was, how accurate his diagnosis was and it’s particularly amazing, now we have got to know now that it is a condition that is privileged in the, amongst the Jewish, Ashkenazi Jewish population that it took such a long time to diagnose, it took them a five year period from the first manifestation until they had a diagnosis - in Israel. And we did see the best neurologist in Israel.
So the lack of knowledge is quite, in this respect, is quite mind blowing. At first we had to go to the UK to get the diagnosis of what would appear today, rather obvious. Because it is the absolute typical cause of the condition, early onset at the age of eleven, beginning at puberty and starting slightly in one limb, it’s quite normal for it to start in the leg, and slowly develop into other limbs and parts of the body.
So it ticks all the boxes in the diagnostic book of torsion dystonia and yet in spite of seeing three or four of the top neurologists in Israel the diagnosis wasn’t made at that point. It wasn’t until I came back from visiting Professor A that it was they could confidently say what it is. And from then send me to millions of tests and MRI’s and lots of different tests, I’m sure they electrified every bit of my body to see what it was, and yes, they were able to identify it.
Stewart and Marilyn are married and have two grown up children.
Stewart worked as a taxi driver and Marilyn is a care worker. Ethnic background/
Stewart: And then about a week or so later, eventually they decide that I can go back on the ward. So I go back on the ward, and the nurse is there who actually sent me down to Intensive Care. She was surprised to see me, she didn’t think I was coming back. She told me. Within a couple of days, they are wheeling me out of the ward, which was a ward of five beds into a private room. I said, “Well what’s happening now?” “You’ve caught MRSA.”
Marilyn: And that was to boot.
Stewart: So I now spend five or six days on my own in this ward.
Marilyn: And he’s not getting any better.
Stewart: And I’m still not getting any better.
Marilyn: And he’s losing more weight.
Stewart: I’m losing weight. I’m not going to the toilet as I should be going. I’m still being fed through a tube, and then I think one day, Marilyn had – something came to her.
Marilyn: I was standing outside and I really thought we weren’t going to bring him home. And I don’t know something just clicked in my, back of my mind. I was desperate. I’d looked everywhere. I’d spoken to people. I’m not unintelligent. There was something not right. Something had been missed.
Something clicked in the back of my mind about my niece. And they’re not blood relatives and I thought this has got to be a million to one chance. And I stopped one of the doctors who were phenomenal. I’ve got to say. And I said to them, “Has he been checked for Factor XI?” And she said, “Well no. We checked for haemophilia which is normal. But we don’t check for factor XI.” I said, “We are Ashkenazi Jews.” I said, “Just something that’s clicked in my mind.” So she said, “Well that test will take a couple of days to get the response from.” She said, “But okay I will do it.” She phoned me that evening. As I said, we were in [hospital]. And they were superb and really kept me in the picture, and she said, “I’ve done the blood test.” And that was on a Friday evening. She said, “I’ll get in touch with you Monday, Tuesday, when I get the results.” She phoned me the next morning to say, “Its factor XI. We know what we’re doing.”
In some cases, the GP did not refer people straight away to see a specialist. Several people with Crohn’s disease were given a blood test and antibiotics at first and told to return if symptoms did not improve. Harriet who had ovarian cancer 23 years previously, saw two GPs in her practice before she was referred for an ultrasound and later diagnosed with a recurrence of ovarian cancer.
Some people had lots of different tests and saw various different specialists before a diagnosis was made. Harvey had a barium enema to diagnose his Crohn’s disease, which was uncomfortable and unpleasant. Hinda was due to have a colonoscopy but her gut was so inflamed it was only possible to do it partially a month later.
Hinda works as a caterer, she is single and has one grown up child. Ethnic background/nationality: Jewish
I started going to the GP first of all with it, and he was giving me things like Colofac, nothing very much to be honest with you. Then, he said to me, eventually, after about a year or so, he sent me to [Hospital] to see a specialist there.
I went to see [Professor ] and by that stage I was down to about, I think about six stone. I was never heavy, not as heavy as I am now, but I was always maybe nine stonish. But I’d gone down a lot, and eventually I’d gone down to about four and a half stone. And I kept going in to him I just wasn’t well. I was feeling sick. He was doing tests, but nothing major. He eventually, after about two years ago, after going privately, her eventually said to me, about, he thought I had anorexia and I should go and see a shrink. And I said, “No.” I said, “I do not have anorexia.” I knew I did not. I’m not that stupid. I said, “No, I do not have anorexia.” I didn’t know what it was, but the pains were violent, really bad in my stomach.
And eventually, anyway, after about two and a half years, I had a friend who was a radiographer in the hospital, he was the head radiographer in the hospital, in [hospital]. And my husband contacted him, because I was just getting sick all the time. I would sit up against the radiator to try and kill the pain. I would sit up against the radiator trying to get the heat through me. I thought maybe that would do something for it. But after, it was after, it was after two and a half years roughly, after I’d been going to [Professor] that I went to see this fellow in... and I’d had loads of tests done... and I went to see this fellow, [doctor] was his name. He was the head radiographer. And he said…
You had going to see the radiographer.
Yes. So I went to see [doctor] and he said to me, when I explained the whole thing to him, and he said, “I’ll try one test and see.” And I don’t know what it’s called, but they put a tube down. It was horrible. It was the most horrific I’ve ever had done, and I never want to have it done again. They put a tube down your nose and down your throat and it goes down into your bowel. And they put you then, I can’t remember do they pour, as far as I can remember they poured something down through the tube. I think it colours the inside of it or something. And then they did sort of x-rays to see what was wrong. And within, I would say ten minutes of having those tests done, he came out and told me that I had Crohn’s.
Age at interview:
Sara is married and has several children aged between 11-26 years. Ethnic background/nationality: Jewish White
So for a couple of weeks I just felt that he wasn’t looking right, but nothing other than that. So after two weeks I decided to take him to the doctor. Actually with, from my point of view, there was nothing to present. Our doctor’s a very good GP, very conscientious and he took blood tests and told me it was probably a virus, don’t worry about it, but I’ll take the blood test. Well within a couple of days he phoned me back and said, “Yes, it looks like you’ve got an infection. From the blood it looks as if there’s something up. But take this antibiotic and come and see me next week.”
And the same thing, some more blood tests. And from that time onwards there was an eight week period when we were sent to various different people. I think my GP had an inkling that it might be Crohn’s from what he’d seen on the blood test but he wasn’t sure. And he was sent to a paediatrician, who again did more tests and we were sent to a rheumatologist and ultimately he was sent to a gastroenterologist, who confirmed that it was Crohn’s.
But in that eight week period he degenerated so much that it was just frightening. It almost like some kind of horror story because he became very weak. He couldn’t walk. I remember taking him out one day in the summer holidays to a museum and he was limping.
There were some stairs to climb, and he couldn’t, he struggled to get upstairs, that was a nightmare feeling. This child was fine a few weeks ago and look at him now; he can’t climb the stairs, he’s suffering, in pain. And then he woke up one morning and said, “Mummy something’s wrong with my legs.” They had swollen overnight. They were swollen and hot…. Of course it was a Sunday, [laughter] so who do you go to, what do you do? These are all symptoms of Crohn’s. Another day, a couple of days later, he had mouth ulcers, really bad mouth ulcers. So his whole system within those few weeks went kaput. So that was, that’s how we got there. Then he was diagnosed on the Friday and they did an endoscopy and colonoscopy immediately on that day. They took us into straight into hospital. We are fortunate to have private cover, so that was very quick.
Age at interview:
Age at diagnosis:
Harvey is a retired primary school teacher (and continues to do some supply work). He is married and has had two children. Ethnic background/nationality: British Jewish
Then in 2001 after a series of investigations to try and sort out the Crohn's Disease problem which continued to rear its ugly head again, and this involved having a radioactive breath test, which was a bit dodgy, and breathing into these tubes for twenty four hours and they were able to determine that there were a series of very nasty bacteria in my gut. And the way to deal with this nasty material was to have a six week course of different antibiotics.
Now I persevered with this over the summer holidays, what an idiot I was, I should have done it in term time, because it was just awful. It was an awful summer holiday because it was just like diarrhoea only magnified by five or six times, because these antibiotics were going through me and washing me out completely.
Anyway at the end of the course, things did actually improve dramatically and I felt really, really well. And I thought whey this has done the trick. And then a couple of months later I started bleeding from the back passage and bleeding and bleeding and I went back to the consultant and unfortunately I didn’t see the consultant. I saw a junior doctor. And junior doctor said, “Oh well, we’ll do a blood test.” And the bleeding continued for another couple of months I think.
In the end urged on by doctors I knew I made an appointment to see the consultant and I insisted on seeing the consultant this time. And as soon as he heard what was happening, he arranged for me to have a colonoscopy and from that it was discovered that I had a small cancer in my lower rectum.
And I said, “Well this is amazing. I was told years ago by my GP that because I had Crohn's Disease it meant that I was unlikely ever to have cancer of the bowel.” And the reply I got was that they’d changed their minds and now it seems that if you Crohn's Disease you’ve actually more likely to get bowel cancer. So that was a bit of a blow.
And, because the cancer appeared in the lower rectum, it mean that the operation I would have for this would be pretty drastic and involved the whole of the lower part of my bowel being removed everything my back passage disappearing completely, it was sewn up and being fitted with a colostomy.
This was a pretty awful thing to contemplate and I said, “What would happen if I didn’t bother to have the operation?” And the surgeon just shrugged his shoulders. I mean he could have been a little more eloquent, but I suppose that said it all really.
Age at interview:
Deborah is a retired secretary/foreign correspondent and translator. She is married with two children. Ethnic background/nationality: Jewish English
Well I went into hospital to have some surgery. I was having a repair job done and I had the surgery, and ten days later I was to have the sutures removed, and just before that I started to bleed. At the time they just tried to stop the bleeding, and I went up and had sutures removed. And the bleeding just continued. They couldn’t stop it. So after a day or so I was taken into intensive care, and then I was whisked back up into the theatre to have another repair to stop the bleeding. And I was re-sutured, brought down, everything was fine, kept under observation and I started to bleed again. This was another week or so after and I was taken up to surgery again, and re-sutured again. I came down and a week later started to bleed again.
I was given blood transfusions at that stage. I had blood going in. I don’t know how many pints of blood they put into me, but eventually, my original physician who was working in the hospital bumped into my husband and he said, “Have they checked all the factors?” And he said, “Well I’ll find out.” He mentioned it to the surgeon and eventually the Head of Haematology came in and he said, “I’m going to take you back up and check again.” So I went back up. I was waiting on the trolley, waiting to go into surgery again, and my surgeon came rushing into me. I was heavily sedated, and he said to me, “Where were you born?” I said, “I was born in England.” And he said, “Well where were your parents born?” I thought, this is crazy, what is he asking me questions like this for? So, the next minute, I said, “Well my father actually was born in Romania, my mother was born in Scotland and…” “Well where were her parents born?” So I said, “Well my mother’s parents were from Poland originally. Of course my father was born in Romania, but my mother’s parents were born in Poland.” And he said, “That’s it. We’ve got it.”
Sometimes people’s symptoms got worse during the process of waiting for a diagnosis and they had to be admitted to hospital.
Rosalynde is a retired medical representative. She is married and has grown up children. Ethnic background/nationality: Jewish
So I went to my GP and he examined me and took blood tests. I came back. He thought I was a bit anaemic and he thought maybe I had a stomach upset and gave me some antibiotics. Didn’t help.
So I went back again, well he’d asked me to come back and he put me on a very strict routine of antibiotics, Metronidazole which is quite strong for infections and another antibiotic, and he thought it might be diverticulitis. But again this didn’t have any effect and by which time I was beginning to look awful. I was very thin and looked really ill.
And by then we were in the middle of February, because you know you wait and time goes by and you hope you are going to get a bit better and he was quite concerned and he made an appointment with a gastroenterologist at our local hospital, [hospital]. And that came through for March 19th. And this was like about the 12th February or something and he said “Oh that’s much too far ahead”, so he phoned or faxed I think through to get me an earlier appointment. There were no earlier appointments. So I said, “Well, you know, I’ll live with it,” feeling quite ill and we were due to go on holiday to Madeira at the very beginning of March.
Well I was waiting for this appointment. I’d spoken to him about going privately because we don’t have private health insurance and I’m a great believer in the NHS. I worked in it and he said, “No don’t start because you’ll have to have too many tests it’ll cost a fortune.” So I said, “Okay I’ll wait,” feeling quite ill.
By the1st March, I think we were due to leave on the 4th, I was in bed and all our packing materials were out and I was lying there thinking, I haven’t got the energy to pack. I don’t know how I’m going to get on the plane. And the telephone rang and it was our GP, who’s very good and very concerned and he said, “I don’t think you should go on holiday.” He said, “I just don’t think you should. There’s something wrong.” And he said, “Until we’ve got to the bottom of it.” So I said, “Well I’m glad you said because I don’t think I can go on holiday.”
The next day he was off duty and my husband came home and saw me, and he said, “I’m taking you to the doctor.” And we rang him immediately, another partner, and he said, “Bring her in.” And I’ve known this man a long time and he said, “I’ve never seen you look like this. Hospital.” And he got me in as an emergency. I was in hospital twelve days and eventually I was diagnosed, quite soon actually with Crohn’s.
Others got a diagnosis for their symptoms quickly. Karen, who was diagnosed in her mid-forties had what she describes as “text book” ovarian cancer symptoms and after various tests, including testing the fluid from her stomach, and a CT scan she saw the consultant a week later for the results.
In the 1960’s little was known about Crohn’s disease or Torsion dystonia. Some people we spoke to who were diagnosed at that time had originally been misdiagnosed and had had operations for other conditions. Some people with Crohn’s disease had been operated on for appendicitis and M, who has Torsion dystonia, had an operation to straighten the bone in his foot to help with his gait before the doctors recognised that his symptoms were neurological.
Several people used private health care to get their diagnosis. Harriet saw a specialist within 36 hours of having an ultrasound and was later diagnosed with ovarian cancer. After being diagnosed with Crohn’s disease, Sara’s son was able to have an endoscopy and a colonoscopy immediately because they had private health insurance. Although it wasn’t always the case that going privately gave quicker results. Simone waited ten days to get the results of her mammogram because the machine wasn't working on the day she went and she had to wait to see the consultant on another day.
Shelia is a teacher. Ethnic background/nationality: Jewish South African
My mother was diagnosed with breast cancer in, in January 1992, and after she was diagnosed I went to my GP and said, “Could I have a mammogram?” And he said, “No. You’re too young.” Because under the National Health, they only grant them sort of every three years once you get to the age of 50 which actually means that the first time you could be called you could be nearly 53, if the records are up to date. I was called at 53!
Anyway I suppose I should have made a fuss, but I didn’t. And I just thought, well I will pay and I will go to the Well Woman Clinic and I’ll have a, the check up, and I’ll have a mammogram.
Anyway as a result of that I did go. I subsequently then went to study in Israel for a year (1992-1993) and registered with a student health service and had a totally different experience. When I just had to fill in a form about my health situation… my health status and family, family background, the minute they saw that my mother had been diagnosed with breast cancer, they said, “Oh well, we’ll send you for a mammogram.”
And they sent me straight away for a mammogram as just part of preventative things. And at that mammogram which was like just a year after my first one in UK, they actually found something that they thought might need further looking at, so they sent me, and I had... it was examined and I had fine needle aspiration and an ultrasound and they said, it was actually just thickening, it was just sort of like a cyst. Nothing necessary to worry about, but it should be watched. So they would give me a letter for when I returned.
So once I returned in Sept 1993, I had this letter, that I should be followed up, and because, at that stage I had private health insurance through my work, I decided that I would take, use that opportunity and go to a doctor that was recommended, and have it checked out.
So after that I actually was able to have annual check-ups and twice things have been found, but then they were just cysts. So in 2000 when I got my little card from [doctor], who was the physician that it was time for me to come for my check, it was actually the week before I was having exams. I was studying part time and I was doing an MA in Holocaust Studies at UCL and I thought, you know I could put it off until after the exams. And I said that’s just a check up, I might as well just go. I can go on the tube and…
Anyway I went. And it was already Stage II. So if I hadn’t actually been sort of taking initiative myself, I think by the time it would have been found, it could have been too late, you know. I felt sort of in a sense, in that sense, probably a big let down by the health service. I mean I maybe should have pushed, but on the other hand, you shouldn’t have to push to get good preventative care.
Age at interview:
Age at diagnosis:
Harvey is a retired primary school teacher (and continues to do some supply work). He is married and has had two children. Ethnic background/nationality: British Jewish
Okay. So my childhood was dogged by my father’s mantra, which was “Have your bowels been opened?” [laughs] And I suppose I became a bit paranoid about that, so I have a strong suspicion that my father’s paranoia about having one’s bowels open transferred to me. And, whether that affected my subsequent history I don’t know, but certainly as a child I suffered from stomach pains quite a lot, and this got progressively worse when I was at the secondary school, which I didn’t like. In fact I hated secondary school.
So any excuse to have the day off was something I took very easily. Whether it was bunking off or just being genuinely ill I’m not sure, but that’s what I did. But it got worse and worse, so that even though I managed to get into sixth form I didn’t stay for the full course. I left in my first year, not exactly ignominiously but it was something I wasn’t particularly proud of.
I managed to get a job at Unilever in an office and they said, “As long as you’re not ill or anything, you’re okay.” But I was constantly being ill with diarrhoea and stomach pains. So I had been under [hospital], which is quite a famous hospital for gastrointestinal problems. But they never seemed to be able to pinpoint what my problem was. And eventually they, kind of washed their hands of me, and their parting shot, or the parting shot of one of the doctors as I was leaving from my examination was, “Oh by the way, don’t drink so much.” And I didn’t have a clue what he meant by this, whether he meant don’t drink too much alcohol, which I didn’t anyway or just don’t drink fluids. But that was all he’d left me with, you know. Off you go into the great wild world and don’t drink too much.
So, nothing improved, whether I drank or not anyway. So eventually my sister, [sister], who was a nurse at the time, suggested I go to a private doctor. At that time I thought ‘wow a private doctor that’s something like £5 an hour’, which was almost two weeks of my then wage. But I did go and I saw a [doctor], who interviewed me, examined me, and arranged for me to have an X-ray on the NHS and he called me back after the X-ray was done and completed and said, “You’ve got Crohn's Disease.” Just like that, and I’d been going to [hospital] for I don’t know how many months or years even, and they’d never been able to diagnose anything, but as soon as I went privately, I was diagnosed with Crohn's Disease.
People were often given good explanation of their diagnosis but when in shock they didn’t take the information in. When Gary’s consultant explained that his Gaucher disease had spread to the brain and caused Parkinsonian symptoms he said he doesn’t remember what else was said. When Michelle was diagnosed with breast cancer, her consultant delayed telling her that she also had the BRCA gene, which she believes was the right decision at the time because there had no history of cancer in the family and it was a huge shock.
Several people who went for genetic screening tests were impressed by the process including the information and support they received (see Genetics and Inheritance 2' BRCA mutations and BRCA mutations and preventive surgery). Karin explained that even after the blood test had been done to see if she carried a mutation on the BRCA gene, she was asked if she wanted the results and didn’t feel under any pressure to have them.
Aaron and Rebecca are married with one child aged 5. Ethnic background/nationality: Jewish.
We were told there was a bowel blockage by the Foetal Medicine unit and we were referred to a surgeon. The hospital were really on the ball and referred us for testing for Cystic Fibrosis.
So they gave me a blood test and found that I was a carrier so then they gave my husband a blood test and he was a carrier. About 20% of CF babies are born with something called meconium ileus which is a blockage of the bowel, where the meconium becomes very sticky and gets stuck in the bowel. So when they’d tested for CF and found we were both carriers, they assumed that was what was causing the bowel blockage. We didn’t really know until she was born. There was a possibility that she would clear it herself, but we obviously wouldn’t know that until she came out.
So her birth was a bit of a military operation because she was breach. We always figured that she learnt gravity early but in hindsight that was the best thing because we saw a … well we never actually saw him, actually but we were referred to a foetal medicine specialist at the hospital who then referred us to [hospital name]. And as soon as they had identified that we were carriers they referred us to the CF unit at [hospital name] and we went there, and spoke to them. It must have been about 30, 32 weeks and they really reassured us. They told us all about cystic fibrosis and what we would be dealing with and all the things that we would have to do. And it was actually quite a relief to talk to them rather than waiting until she was born and seeing what happened.
Kathy had had her testing for Tay Sachs as part of her routine bloods taken during pregnancy and she was not surprised when it came back positive because she knew it was in the family.
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