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• Chronic health issues >> Jewish Health >> Genetics and inheritance 1 >> Genetics and inheritance 1

Genetics and inheritance 1

 

• Chronic health issues >> Jewish Health >> Genetics and inheritance 2: BRCA mutations >> Genetics and inheritance 2: BRCA mutations

Genetics and inheritance 2: BRCA mutations

 

• Chronic health issues >> Jewish Health >> Early signs >> Early signs

Early signs

 

• Chronic health issues >> Jewish Health >> Telling people >> Telling people

Telling people

 

• Clip
• Chronic health issues >> Jewish Health >> Tay Sachs >> Dr and Mrs Koch – Interview 35 >> Dr Koch views himself as “one of the unlucky ones that the mutation occurred”.

Dr and Mrs Koch had two babies who were born with Tay Sachs disease and died in childhood.

• Chronic health issues >> Jewish Health >> Gaucher Disease >> Gary – Interview 17 >> Gary talks about the way in which Gaucher disease is passed on.

Gary was diagnosed with Gaucher’s disease 18 years ago, which was further complicated with a diagnosis of diabetes around the same time. He has since developed Parkinson’s disease symptoms as a consequence the Gaucher’s disease.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Shelia – Interview 21 >> Sheila went privately to be tested for the Founder mutations in the BRCA genes, and was upset when the result gave her only a 60% certainty of being n

Sheila was diagnosed with breast cancer ten years ago and had a lumpectomy followed by radiotherapy. Sheila had to insist to get chemotherapy as it was not initially recommended. She feels more preventative care should be offered on the NHS.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Dr and Mrs Koch – Interview 35 >> The test Dr Koch helped develop in the 1970’s has been used to identify carriers of Tay Sachs and has “had a very good history of success”.

Dr and Mrs Koch had two babies who were born with Tay Sachs disease and died in childhood.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Miriam – Interview 5 >> While Miriam has not encountered much stigma herself, she would want her children to be tested for Tay Sachs anonymously.

Miriam discovered that she carries the gene for Tay Sachs as a teenager. She arranged to marry her husband who does not carry the gene and expects their children will be tested anonymously.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Hayley – Interview 3 >> Hayley inherited a copy of the faulty BRCA1 gene from her father and had her ovaries removed as a precaution. She worries about her sons and their fut

Hayley discovered she carried a mutation on the BRCA1 gene after her cousin was diagnosed with ovarian cancer. She has had her ovaries removed and is considering a double mastectomy. Hayley feels it’s important to read about the BRCA1 gene and cancer to maintain control.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Caroline - Interview 27 >> Even though she never experienced cancer and has had preventive surgery, Caroline feels the BRCA2 mutation remains at ‘the core of her’ -something tha

Caroline, a BRCA 2 mutation carrier, has had a double mastectomy. In the future she will consider whether or not to have her ovaries removed.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Dr and Mrs Koch – Interview 35 >> Dr Koch explains why there is more stigma attached to female Tay Sachs carriers than male.

Dr and Mrs Koch had two babies who were born with Tay Sachs disease and died in childhood.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Dr and Mrs Koch – Interview 35 >> Dr Koch does not agree with anonymous testing for Tay Sachs.

Dr and Mrs Koch had two babies who were born with Tay Sachs disease and died in childhood.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Nicole and Katy – Interview 11 >> Nicole & Katy talk about how the Tay Sachs gene running in the family was ‘brushed under the carpet’ in previous generations.

Two of Nicole’s children have been screened for the Tay Sachs gene and are carriers. It’s thought the gene was passed down through her husband’s family, although Tay Sachs has never been discussed openly in her husband’s family.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Michelle – Interview 31 >> Michelle was told that she might have the BRCA mutation only after she had completed her chemo for breast cancer.

Michelle was diagnosed with breast cancer and had a mastectomy and chemotherapy. She was shocked to discover she has a mutation on the BRCA2 gene and has since had another mastectomy and her ovaries removed.

• Chronic health issues >> Jewish Health >> Crohn's disease >> Sara – Interview 8 >> Despite a high incidence of bowel problems in her family, Sara had never heard of Crohn’s disease. She is impressed by how many children have been dia

Sara’s son was diagnosed with Crohn’s Disease aged 12. He’s had two Parenteral Nutrition courses and a section of diseased intestine removed. Sara felt isolated and unable to talk about her son’s illness, however she’s since found others with similar experiences.

• Chronic health issues >> Jewish Health >> Cystic fibrosis >> Aaron and Rebecca – Interview 12 >> Rebecca and Aaron were not offered genetic counselling when they found out they were CF carriers because Rebecca was already pregnant. Their daughter

Aaron and Rebecca found out they were carriers for cystic fibrosis when Rebecca was pregnant and a scan showed a bowel blockage. Their daughter is five and apart from surgery following birth, a bronchoscopy and course of IV antibiotics, has been in good health.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Nicole and Katy – Interview 11 >> It wasn’t a complete shock to Nicole when her daughter tested positive for carrying the Tay Sachs gene.

Two of Nicole’s children have been screened for the Tay Sachs gene and are carriers. It’s thought the gene was passed down through her husband’s family, although Tay Sachs has never been discussed openly in her husband’s family.

• Chronic health issues >> Jewish Health >> Familial Dysautonomia >> Cissie – Interview 34 >> Cissie would like screening for Familial Dysautonomia introduced because “it is not a nice life for anyone”.

Cissie was born with Familial Dysautonomia, a hereditary condition which affects the nervous system. The condition has caused Cissie to experience considerable health issues over the years.

• Chronic health issues >> Jewish Health >> Cystic fibrosis >> Aaron and Rebecca – Interview 12 >> When Aaron and Rebecca both tested positively for the cystic fibrosis gene they felt very reassured by the information and support they received befor

Aaron and Rebecca found out they were carriers for cystic fibrosis when Rebecca was pregnant and a scan showed a bowel blockage. Their daughter is five and apart from surgery following birth, a bronchoscopy and course of IV antibiotics, has been in good health.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Hayley – Interview 3 >> Hayley found the decision to have her ovaries removed “a no brainer”.

Hayley discovered she carried a mutation on the BRCA1 gene after her cousin was diagnosed with ovarian cancer. She has had her ovaries removed and is considering a double mastectomy. Hayley feels it’s important to read about the BRCA1 gene and cancer to maintain control.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Hayley – Interview 3 >> Hayley is not sure how she feels about possibly having a mastectomy.

Hayley discovered she carried a mutation on the BRCA1 gene after her cousin was diagnosed with ovarian cancer. She has had her ovaries removed and is considering a double mastectomy. Hayley feels it’s important to read about the BRCA1 gene and cancer to maintain control.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Karin – Interview 28 >> Karin’s biggest fear is passing on the mutation to her daughter.

Karin found out she was a BRCA1 mutation carrier four years ago. She has had a double mastectomy and her ovaries removed.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Caroline - Interview 27 >> Caroline was tested for the BRCA mutation after her father died and the family found out he was a carrier of the gene.

Caroline, a BRCA 2 mutation carrier, has had a double mastectomy. In the future she will consider whether or not to have her ovaries removed.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Karen – Interview 30 >> Karen was pleased to take part in the GCaPPs study because she hadn’t realised she could be at risk of getting breast cancer after having ovarian canc

Karen was diagnosed with ovarian cancer and had a full hysterectomy between chemotherapy sessions. Now in remission, Karen has discovered she carries the BRCA1 mutation.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Caroline - Interview 27 >> Caroline says that the “sensible part of her brain” tells her she shouldn’t feel guilty about possibly passing the BRCA mutation to her children.

Caroline, a BRCA 2 mutation carrier, has had a double mastectomy. In the future she will consider whether or not to have her ovaries removed.

• Chronic health issues >> Jewish Health >> Cancers and BRCA mutations >> Hayley – Interview 3 >> Hayley received a “to whom it may concern” letter about being screened after her dad was diagnosed with cancer.

Hayley discovered she carried a mutation on the BRCA1 gene after her cousin was diagnosed with ovarian cancer. She has had her ovaries removed and is considering a double mastectomy. Hayley feels it’s important to read about the BRCA1 gene and cancer to maintain control.

• Chronic health issues >> Jewish Health >> Crohn's disease >> Harvey – Interview 9 >> In Harvey’s experience illness and Judaism seem to go hand in hand. But the thought that his illness might reside in his genes makes it somehow easier

Harvey was diagnosed with Crohn’s Disease aged 17 and had three resections on his intestine. At 56 he was diagnosed with bowel cancer and had the lower part of his bowel removed in a major operation. Harvey would like more support to manage his condition.

• Chronic health issues >> Jewish Health >> Factor 11 Deficiency >> Deborah –Interview 24 >> Deborah’s family were all screened after her Factor 11 Deficiency was discovered.

Deborah was diagnosed with a Factor 11 Deficiency of less than 1%, aged 45. She has fresh frozen plasma before, during and after any surgery. Her younger son was also found to have a deficiency of less than 1%.

• Chronic health issues >> Jewish Health >> Cystic fibrosis >> Aaron and Rebecca – Interview 12 >> Aaron and Rebecca reflect on how they had no idea that the CF gene was in their families.

Aaron and Rebecca found out they were carriers for cystic fibrosis when Rebecca was pregnant and a scan showed a bowel blockage. Their daughter is five and apart from surgery following birth, a bronchoscopy and course of IV antibiotics, has been in good health.

• Chronic health issues >> Jewish Health >> Torsion Dystonia >> M – Interview 19 >> Information has been easily available for M because his genetic mutation, DYT1, is common among Ashkenazi Jews.

M was diagnosed with torsion dystonia at 16, five years after developing an unusual gait. As treatment M underwent Deep Brain Simulation, which initially was not successful. With a second opinion, the electrodes were repositioned resulting in more success.

• Chronic health issues >> Jewish Health >> Tay Sachs >> Dr and Mrs Koch – Interview 35 >> Dr Koch thinks information is crucial for Tay Sachs carriers.

Dr and Mrs Koch had two babies who were born with Tay Sachs disease and died in childhood.