Early symptoms

BRCA mutations

Ashkenazi Jewish women have a higher-than-average risk of carrying an alteration (mutation) on the BRCA1 or BRCA2 gene, which means that they have a higher risk of developing breast or ovarian cancer. The women we talked with first discovered that they were a carrier of the BRCA gene when they themselves, or a member of their family, had been diagnosed with breast or ovarian cancer and they then went for testing.

Hayley received a to whom it may concern letter about being screened after her dad was…

Age at interview 39

Gender Female

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Well it goes back to, let’s think, October, September of 2007. Basically what happened was, well I suppose even before that I suppose, my cousin was diagnosed with ovarian cancer about three, three and a half years ago. And, it took a long while for the doctors to guess that she had cancer, and they treated for irritable bowel syndrome, and all these things because she was so young, and then when it was like a final sort of chance, that they checked out and she had cancer. By that time it had time it had spread and she has had to deal with it. You know, she had to fight it.

And I didn’t know anything about this tumour at this stage, and I think because she was so young, she was just turned 40 when all this process started and 41 by the time they diagnosed the cancer. That she was so young for ovarian cancer that they checked her out for this gene. Meanwhile we are not a particularly close family. We knew she had cancer, we were sorry. I hadn’t seen her for over 20 years. I still haven’t seen her for 20 years. And that was it, that just ticked along in the background.

It wasn’t until my dad got diagnosed with cancer, that, I think it triggered something in her, that she released her records and I got a letter out of the blue, in as I say about September 2007 saying To Whom It May Concern – which was me – there was BRCA 1 gene in the family, we suggest that you get tested.

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Cancer

The symptoms of ovarian cancer often develop late in the disease and can be very vague. They include loss of appetite, bloating, swelling in the abdomen, changes in bowel and bladder habits, pain during sex and [rarely] abnormal vaginal bleeding. Harriet was first diagnosed with ovarian cancer when she was 20 years old. She explained that the first sign of a recurrence of the cancer was, ‘I’d go to the loo and twenty minutes later I was so desperate to go again that I would be in a sweat from it.’ She also stopped being able to sleep on her stomach comfortably. As well as needing to pass urine frequently, Karen had shooting pains in her groin which she had associated with the prolapse she had previously.
The women we talked with who’d had breast cancer had discovered a lump in their breast. They weren’t aware, at the time, if they carried the BRCA mutation and one woman went on to test negatively for it, while the other two have not been tested. Sheila had a lump underneath her breast which she thought wouldn’t have been discovered early had it not been for the mammogram she had in Israel. She had the mammogram because her mother was diagnosed with cancer some years earlier. Simone found the lump in her breast herself but it was in an awkward place and at first she thought she was feeling her rib cage.

A lump in Sheilas breast was discovered after having a mammogram in Israel.

Age at interview 59

Gender Female

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My attitude is, is that I just know from my personal point of view if I wasn’t going for check ups I probably wouldn’t be here talking to you because my lump was actually underneath my breast. It was the bottom part. And that’s what the physician explained to me. He said, When people self examine themselves, they very rarely poke underneath You sort of go, pat, pat, pat, pat And he said what’s really the best, and no one had ever told me this before, was like well obviously you wouldn’t really do it in the swimming pool, because there’s lots of other people around. But is like in a deep bath, if you lie, because then, because of the water, gets you a bit more buoyant and then you feel all the way around. Because it was, it was over 1cm in diameter. So it was, you know, I would have, I can’t believe I wouldn’t have felt it, you know, and of course once it had been pointed out to me, in the few weeks before I had the operation, you know what I mean, I was very aware of it.

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Simone was horrified to discover a lump in her breast on a Friday night as she had to wait for…

Age at interview 44

Gender Female

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Well I first became aware of a lump in my right breast on the 6th January 2006. It was a Friday evening, and I was just horrified because it was a Friday evening and I wouldn’t be able to do anything about it to the Monday. That weekend seemed to last forever.

Did you check your breasts regularly?

Not really, sort of quite haphazardly and probably not thoroughly, and part of me feels I could have found that lump a bit earlier, but it was in quite an awkward place, where it was difficult to place, and I think I had been aware of something there, definitely a few weeks earlier, but I just thought I was feeling my rib cage. But that was the position I was in and when I felt it standing out then I could tell it was actually separate. You know, it was definitely in the breast.

And had you had any sort of lumps before that?

No, nothing that I’d need to go to the doctor about, and I’ve always had quite tender, lumpy breasts, you know, sort of premenstrual times, but nothing that concerns me, and this felt very different from how my breasts normally felt. It was very hard and irregular and it just felt wrong.

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David, who was diagnosed with multiple myeloma, said that the first sign that something was wrong was when he had excruciating back pain.

Crohn’s Disease

Some people diagnosed with Crohn’s disease talked about knowing of the higher than average risk of Crohn’s among Jewish people, even though this connection has not been established genetically.
Most people talked about having stomach pains before they were diagnosed with Crohn’s Disease. Often these stomach pains had been mild at first but had gone on for a long time before a diagnosis was made. (See Getting a Diagnosis). JP was diagnosed with Crohn’s disease after a year of experiencing discomfort in his late teens. He suspected he had Crohn’s disease because his sister had the condition. Some people talked of discomfort in their abdomen which had got progressively worse. Sara didn’t suspect that her 12 year old son could have Crohn’s disease because he didn’t have chronic diarrhoea and although he had tummy ache ‘it was not the sort of stomach ache she imagined someone with Crohn’s would have.’
Others mentioned terrible stomach pains that were debilitating. Marcel had severe stomach ache in his late teens with which he was ‘doubled up in pain’ at night. In other cases, stomach pain had become so bad that appendicitis was suspected. Riva said that, ‘the pain got so unbearable that they actually thought it was my appendix and it was about to burst.’
Some people with Crohn’s disease had had chronic diarrhoea for years. Linda explained, ‘every time I ate I would get really bad cramps in my stomach and within 20 minutes I would be running to the toilet.’ Linda talked about how debilitating it was for her as a young adult to be suffering chronic diarrhoea.

As a young adult, Linda found being unable to eat normally, chronic diarrhoea and weight loss…

Age at interview 50

Gender Female

Age at diagnosis 15

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Crohn’s Disease is very debilitating inasmuch as it causes chronic diarrhoea, chronic weight loss, and all the things that go along with that. For a teenager, an adolescent it’s particularly traumatic because it can mean restricting the natural growth that’s going on at that time. In my case it didn’t happen, because I think I was probably out of puberty by that time. But it can be very traumatic.

But I was unable to eat properly, I had no body strength, because I’d lost such a lot of weight. And very listless and lethargic and it took a long time even after I came home to build that up and be able to eat normally and not feel that you needed to be near to a toilet all the time, which socially is very, very difficult. But after a fairly, well in one way it’s a long time, because when you’re a teenager you want to be able to get on with life and do everything, but looking back now over a period from the distance of years, it probably wasn’t all that long.

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Others talked about the weight they had lost. Rosalynde noticed she had lost quite a lot of weight but she was feeling well so she dismissed it. It was only a couple of months later that she started feeling unwell and she was in pain.

Rosalynde noticed that she was losing weight but at the time she had no other symptoms and she…

Age at interview 70

Gender Female

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Well around November of last year 2008 I was losing weight. I hadn’t noticed it particularly but I put on a new outfit that I’d bought a month before and it was about two sizes too big. And at that time, I have always been slim, but a woman is always glad to lose a bit of weight and I didn’t take any notice. And then by December I, I really was losing weight and by the beginning of January – and I suppose I dismissed it, thinking I don’t know, never mind, I didn’t feel ill – but by January I was in pain and not feeling well at all.

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As well as severe stomach pain, Carol had mouth ulcers, boils, acne on her back and night sweats before she was diagnosed with Crohn’s disease.

Factor X1 Deficiency

Some people diagnosed with Factor X1 Deficiency had experienced many episodes of excessive bleeding during their life before a diagnosis had been made. Often this had occurred after surgery, sometimes starting in childhood.

Deborah could remember periods of bleeding as a child.

Age at interview 75

Gender Female

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And did you ever have any periods of bleeding before that, when you were younger?

Yes, there was actually. That was something I forgot to mention. When I was about eleven, I had a tonsillectomy, I had my tonsils removed, and I bled. All the other kids went home the next day, and I was in hospital for about two weeks because they couldn’t stop the bleeding. It would stop and start, and eventually it was stopped and I came home. That was the first thing. And then in the fifties it was about 1956, I went in and had some surgery, appendix surgery, and I bled profusely. And I went back into surgery again and was re-stitched. He said herringboned it or something, something ridiculous, but I seemed to be okay after that. But I did bleed at that time, but nothing was known then about Factor XI deficiency so

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Helen’s husband, Ivor, had a fall later in life where his nose didn’t stop bleeding and he needed blood infusions for four days. He also had several episodes of excessive bleeding after surgery, but it was only after a second hernia operation, when he bled a lot afterwards, that the reason for it was investigated.

Since he was a child, Ivor had had several episodes of excessive bleeding during which he needed…

Age at interview 77

Gender Female

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Well the first thing obviously that he remembered was when he was about five years old he had his tonsils out and I don’t know how long they used to keep them in hospital then, maybe a day or two. Anyway, after he came home he had a haemorrhage and had to go back in. So that was obviously the beginning of it but nobody knew what it was. You know.

He said, he told that over the years if he ever needed a tooth extracted, once they had discovered the first time that it bled, he used to take Vitamin K pills two or three days beforehand which certainly, you know, set up the clotting thing.

Now he had a heart bypass in 1989 and had no blood problems. But we realised that because he had blood transfusions, there was sufficient clotting factor in these to stop excess bleeding, so he didn’t have that, but he was allergic to, it was plasma wasn’t it that they once or twice tried to give him and it used to give him the shakes. Do you remember? So they could only use a certain thing if they ever wanted to give him something to stop bleeding for any reason. Over the years they found out what it was that they had to give him.

He was under [Hospital], the haematology department there and after, he had a fall, and he fell down some steps outside and hit his face, his nose and his nose didn’t stop bleeding. We took him to the hospital and he was in for a few days. And what they did then, they gave him infusions, it went on for about four days, wasn’t it. Something like that of whatever it was that they give him that brought factor XI up to a reasonable amount. And the bleeding stopped.

Now what happened in the end was that he had two hernia operations, and each time he bled a lot afterwards. After the second operation, a student doctor who had been reading up on his notes said, Every time it says on it, excess bleeding’ but nobody’s ever investigated it further She said, Would you stay in another day – because he was due to go home, you know – and I’d just like to take, do some blood tests and things like that Which is what they did.

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Deborah had had several episodes of bleeding after surgery during her life but it was only after a more recent episode of bleeding when stitches were removed following an operation that she was diagnosed with Factor X1 Deficiency.
For Stewart though, the first sign that he had Factor X1 Deficiency was when he was seriously ill after having a liver biopsy. He experienced internal bleeding almost immediately after the biopsy was taken, and was close to dying. He needed several units of blood and spent over three weeks in intensive care.

Torsion Dystonia, Gaucher Disease, Glaucoma

M was eleven and living on a Kibbutz when he first noticed deformation in his right foot and he started walking with a different gait. He was later diagnosed with Torsion Dystonia. Gary first realised that something was wrong when he had several episodes of prolonged bleeding after he cut himself shaving. A blood test confirmed that he had Gaucher disease. Jill had always had poor eyesight since she was a child but it was when she was 60 years old that she started to see shadows and after tests, she was diagnosed with Glaucoma.

When M was living on a Kibbutz as a child he suddenly developed an odd gait and he noticed some…

Age at interview 39

Gender Male

Age at diagnosis 16

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My, sort of my condition started at the age of 11, which was quite a few years ago, I noticed some deformation in my right foot and started walking with a funny gait, sort of throwing my right foot out as I was walking. Just to give some context, I was a kid, aged 11, living on a Kibbutz in Israel and normally walking barefoot, pretty much all year round and running on the grass and having lots of outdoor activity and suddenly I came to develop this odd gait.

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Tay Sachs and Cystic Fibrosis

Miriam discovered as a teenager that she carries the Tay Sachs gene after her brother went to a Tay Sachs screening and tested positively for it. It was unexpected as they knew a lot about their family’s history and had not heard of incidences of it in the past.

Dr Kochs baby had the startle effect and couldnt coordinate movements.

Gender Male

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And we knew something was wrong definitely wrong, because she couldn’t keep her head up and she couldn’t coordinate movements. She had the symptoms of spasticity. She had the startled effect as it’s called, which we didn’t know what it was at the time. That is abnormal response to sound. If you just clap about that sound level behind the child’s head whos looking away from you, she would – I can’t do it because my wife’s sitting too close, but she’d throw her arms out and she would exhibit a facial contortion that looked like she was in severe pain, and actually she’s not, it’s just a reflex. That’s called the startled effect. And there were general other symptoms of loss of ability to do it, or want to do anything which was very disturbing.

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During antenatal screening tests, Rebecca’s baby’s head was too big at the 20 week scan and at the 24 week scan a problem was found with their baby’s bowel. Rebecca and Aaron were tested for cystic fibrosis and found to be carriers of the gene.

Getting a diagnosis

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...