Jewish Health

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 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.
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.
Sometimes people’s symptoms got worse during the process of waiting for a diagnosis and they had to be admitted to hospital.
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.
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.

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. 

Last reviewed May 2019.
Last updated June 2013.


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