Genealogy can potentially save lives

[ptdrifter]

https://www.bbc.co.uk/news/articles/cgl0zzj299jo

Brave woman

[CaroleW]

Back in the early 1990’s I did BMD research at Preston library.  A gentleman researcher told me his g/dtr was unmarried but had 2 children by her boyfriend.  The 2 families did not get on!!

He had heard on the grapevine the boyfriends family had a serious genetic medical history but the family had “closed ranks” so he was researching their various deaths in the hope of finding a common link.  Back then there were no cheap digital copies of death certs either

[susieroe]

I'm having genetic testing for the BRCA6 gene at the moment. After my operation for cancer last year, the surgeon told me that it was stage 3 aggressive but was saved from it getting worse, or spreading, by this BRCA6 Gene. What he meant was, as he told me at the next appointment, was that if the gene was healthy I need not worry  about it recurring. But they have found some changes, thus the ongoing monitoring and gene testing. I had to do a quick mug-up of my family history for the lady who's doing it; I knew one great-grandmother died from breast cancer and grandma on the other side died from bowel cancer. My cousin also had an hysterectomy, but none of us had it at a young age, which I've read seems to be happening far more frequently nowadays.

[coombs]

2 of my grandparents died of cancer but through smoking. One great grandfather died of carcinoma of the stomach and leukemia in 1950, and one died in 1927 of a carcinoma of bladder aged 67. Not sure if that was through smoking or what.

[CaroleW]

My neighbours (now deceased) had 3 children

Daughter 1947-1971
Daughter 1950 - 1969
Son 1954 - 1977

All 3 died of a genetic illness called Schilders disease.  It was later found to be in the wife's family but had "skipped a generation"  Although she was a carrier - she had no symptoms

The symptoms only start to manifest themselves when the child is about 3 or 4 & by the time they finally got a diagnosis on the eldest dtr - the second was also found to have it.

She was already pregnant with her son by then & when he was born he tested negative - apparently not unusual.  Sadly - when they tested a year later he was found to be positive.

Hyperactivity was the first symptom with the eldest dtr  followed by Blindness/paralysis/epilepsy in varying degrees with all 3 children 

[Biggles50]

My neighbours (now deceased) had 3 children

Daughter 1947-1971
Daughter 1950 - 1969
Son 1954 - 1977

All 3 died of a genetic illness called Schilders disease.  It was later found to be in the wife's family but had "skipped a generation"  Although she was a carrier - she had no symptoms

The symptoms only start to manifest themselves when the child is about 3 or 4 & by the time they finally got a diagnosis on the eldest dtr - the second was also found to have it.

She was already pregnant with her son by then & when he was born he tested negative - apparently not unusual.  Sadly - when they tested a year later he was found to be positive.

Hyperactivity was the first symptom with the eldest dtr  followed by Blindness/paralysis/epilepsy in varying degrees with all 3 children

Very similar occurance happened to a family near me.

The Mother was diagnosed with a degenerative brain disorder and passed away.

Her eldest Daughter was in her mid 20’s and became the guardian of her much younger siblings.  He had her own child and was devastated when she was told that her, her daughter and two siblings were likely to develop the same symptoms within the next 30 years.

She had herself sterilised and was gearing up to tell her siblings that they to would need to ensure that the disease stopped with them.

Very brave family.

Not sure what happened to them as I moved away.

[CaroleW]

That sounds like Huntingtons Disease

[Annie65115]

I have high cholesterol, and although I haven't been tested for genetic factors, it looks likely - probably as a combination of genes that skip some generations and not others.

Why do I think so? Well I can go back to 1840 when my 5xgreat grandfather died aged 59 of a "visitation by God". He was however a local bigwig, so the inquest was reported at length in the paper and his maidservant gave an absolutely classic description of someone having a heart attack in the dawn hours. I used to be a medic and I recognised the description immediately! His younger brother had also died suddenly a couple of years beforehand, and at that inquest a doctor gave evidence that he had been seeing the brother for a few months for a heart condition that was "invariably fatal". Another heart attack, from the description.

His daughter - my 4x gt grannie - died in her 30s, and his granddaughter died aged 52 of gastric cancer (post mortem results available but I haven't read them yet). So neither lived long enough for any coronary artery disease to kill them.

But my gt-gtgrannie also died in her 50s of a heart attack. Again, the inquest was reported in the papers and again, it was a classical presentations of symptoms (sadly, the goose grease rubbed onto her chest by her daughter, as they waited for a doctor, didn't help). My gt - grannie (same ancestral line) also died in her 50s of "angina".

My grannie and mother bucked the trend - they never had cholesterol checks, but both lived into their 90s. But now here I am with sky high "bad" cholesterol --- And yes, I take my statins religiously!! And I've told my daughter to get her cholesterol checked!

[Ayashi]

My mum's cousin and her son were diagnosed with COPD. Our shared ancestors, parent to child up the line, have death certificates including bronchitis and/or emphysema. I believe my grandmother had emphysema but mum so far hasn't (thankfully).

As far as cancer goes, my mum's family have produced a game of Body Part Bingo. I've nearly got the full set