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Genetic Illness's

ProfilePosted byOptionsPost Date

Ruth

Ruth Report 18 Apr 2012 18:59

Does anyone know if there is a way of finding out, if ancestors suffered from genetic illness, my 2 grandchildren suffer from hereditary spastic paraplegia and we would like to find where this came from within the family. thanks

KathleenBell

KathleenBell Report 18 Apr 2012 20:07

I suppose you could ask all living older relatives and then check on the 1911 census to see if any of the family has a similar disability mentioned on there - although the disability may be described in different terms to what we use today.

Kath. x

DazedConfused

DazedConfused Report 18 Apr 2012 20:43

You may also find that although a person has a disability it is not even mentioned

My g/grandfather had a 'gammy' leg and this is not mentioned in any of the 4 census returns. I had hoped he would have put something in the last column in the 1911 census but nothing.

Leoni

Leoni Report 18 Apr 2012 21:34

My 2 youngest nieces have been diagnosed with autosomal recessive deafness, due to genetic testing we have just found out it is indeed hereditary

we have asked all older family members if they remember any relative who was deaf and no one remembers anyone who was. i have also checked census and old family records and found nothing





T :-( :-(

Ruth

Ruth Report 19 Apr 2012 18:29

Thanks for the replys, we have tried going to the older family members but to no avail, genetic testing is very long winded and it would be nice to find out which side it came from also the risk of it continueing thro the family, my mothers , mother died young but I have her death certificate and that is put down as renal failure.

brummiejan

brummiejan Report 19 Apr 2012 18:35

It would be a bit strange if your son/daughter hasn't had advice about this from a geneticist.
Jan

Ivy

Ivy Report 19 Apr 2012 19:06

Also bear in mind that there are many genetic illnesses that are only active if you get the same problem gene from both parents (so from both sides of the family).

Suppose Mum has good gene g and bad gene b, and so does Dad. Neither has the illness because one good gene is enough for the body to work as it should. Their children will inherit one gene from Mum and one from Dad - it is random as to which child gets which gene.

Any children that get Mums' g and Dad's g are fine, and will not pass on bad gene b.

Those unfortunate children that get Mum's b and Dad's b will suffer from the illness.

Any children that get Mum's g and Dad's b, or Mum's b and Dad's g will be fine, but if those children marry someone who also carries bad gene b, then they too run the risk of having children with the disease.

It sounds as if this is a very rare disease (in every 100,000 people, you would only find 4 or so people with the disease) and that the severity of the symptoms vary - have you found a support group?

EDIT - this one is based in the UK and has about 300 members:

http://www.hspgroup.org/

Leoni

Leoni Report 19 Apr 2012 19:25

Sometimes all the information from the geneticist is very over whelming my Sister and brother in law struggled to understand what the Geneticist said, I went with my Sister to one of the appointments and asked questions to the parts that i didn't understand myself.

He answered my questions truthfully and didn't make me feel silly asking the simplest question.

Have you attended an appointment with your son/daughter?

Lee

SueCar

SueCar Report 28 Apr 2012 19:58

My grandfather had a 'gammy' leg and is supposed to have been kicked by a horse. My mother had a 'gammy' leg & is supposed to have got her leg caught under the fender. She was a baby that cried a lot and none of the cousins wanted to look after her. Her older sister & younger brother did not have anything wrong with their legs/hips. Me & my brother & sister were fine & so was my eldest daughter then the 'congenital dislocation of the hip' (CDH) came out in my second daughter. She was also a baby that cried a lot. She was tested for 'clicky hip' as a newborn but her hip did not click because there was not enough hip socket to click.

At toddler group an older mother pointed out to me that she had both feet on the floor but one leg was straight & the other bent at the knee. That was the first diagnosis at age 18 months & was confirmed by the orthopaedic specialist subsequently. She had an op soon after & another aged 14. Her own two children have obviously been checked & are clear.

By the way 'congenital' just means present from birth, not hereditary and no-one has ever told me CDH is hereditary but one time when my mum and I were at the clinic with small daughter an older nurse said "Ah!" and looked knowingly when she found out my mum had a 'fixed hip.'

Does anyone else on GR have experience of CDH or a tale to tell?

brummiejan

brummiejan Report 28 Apr 2012 22:00

CDH is definitely inherited in some cases. My friend is one of 4 girls. Their mother had CDH as did 2 of the daughters, and a 3rd has some slight hip abnormality. It's far more common in females due to hormones which make the joints more lax.
Jan

SueCar

SueCar Report 28 Apr 2012 22:59

Yes, I've heard that. I know a family where all three girls had it. There is apparently also a connection between CDH and squint. Certainly my grandfather had the gammy leg and his wife, my Grandma had a slight squint.