Jewish Health

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.
 
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.
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.
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.
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.
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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.
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.
 
 
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.
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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.  

Last reviewed September 2015.
Last updated September 2015.

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