Stories
(Case Studies)

Why screen for Jewish Genetic Disorders?

A short video of Ruth & Tony Angel  and Lauren & Richard Kayser sharing their families’ stories of being carriers of a Jewish genetic disorder.

Carrier Couple

Abi & Oli share their story of being a carrier couple of a recessive JGD.

Carly’s BRCA story

Carly tells her BRCA story about why being screened via the NHS England Jewish BRCA testing programme is so important.

Rochelle’s Story

I found out in August 2015 that I have the BRCA 2 genetic mutation. This means that I have a high risk of breast and ovarian cancer. This is something that I inherited from my mum who had both BRCA 1 and BRCA 2 mutations.

My mum was always worried about breast cancer because her mum had had it. She went to the doctors but they told her that it was just like the lottery – someone points the finger and decides it’s you. This isn’t necessarily the case.

If the doctor had looked into my family history they would also have found out that two of my mum’s aunties had had breast or ovarian cancer.  They would also have known that my mum was eligible for genetic testing to see if these incidents of breast and ovarian cancer were genetic (BRCA mutation). She wasn’t tested for BRCA until after she was diagnosed with breast cancer. That breast cancer led to a secondary and in September 2015, that secondary took her from us within two weeks of diagnosis.

If someone had put the pieces together just a few years earlier and mum had been tested, it is possible that she may not have developed breast cancer and she may still be with us.

As for me, I am lucky.

My mum’s cancer may well have saved my life.

I know that I have the genetic mutation and I know this prior to developing any cancer. I have had the opportunity to be monitored and the choice to have preventative surgery that gives me a good chance of not developing breast or ovarian cancer in the future. Mum didn’t get this opportunity. I had a double mastectomy and reconstruction in April 2016 and plan to have my ovaries removed in the next few months. This will reduce my risk of breast cancer to a rate lower than that of the general population. Genetic testing may well have saved my life.