Genetic screening - any experiences

Topcat1982

Are your Mother and your cousin's Mother sisters?

charliewocka

Topcat1982 wrote: »

Are your Mother and your cousin's Mother sisters?

Yes, hence the possibility of being a carrier.....it's a maternal trait.

theoretica

charliewocka wrote: »

I believe that we can choose to only have healthy embryos inserted. Once we know where the gene is (if I am a carrier) we can have embryos tested and only those without the fault (male OR female) can be kept. This helps to ensure the blood line of carrying the gene stops.


That's my understanding anyways. I think at the moment the negatives make more of a stand - worse case scenario playing out in my head. Will try to get some decent sleep (lots been going on in life at the moment) and be a bit more rational.

You mentioned the possibility of screening embryos in your first post - I was trying to work out an alternative which took into account your points of not being totally confident screening would indeed pick up if you are a carrier and how you personally would feel if you are told you are a carrier.

LilElvis

charliewocka wrote: »

I believe that we can choose to only have healthy embryos inserted. Once we know where the gene is (if I am a carrier) we can have embryos tested and only those without the fault (male OR female) can be kept. This helps to ensure the blood line of carrying the gene stops.


That's my understanding anyways. I think at the moment the negatives make more of a stand - worse case scenario playing out in my head. Will try to get some decent sleep (lots been going on in life at the moment) and be a bit more rational.

You are right, Preimplantation Genetic Diagnosis (PGD) is licensed by the HFEA for screening for very specific conditions - and Duchenne is one. Screening based on the sex alone is not permitted. Try looking on the Fertility Friends Forum as there will be members there who have been through both the testing and treatment for this and similar conditions. This section relates to those having ivf post diagnosis: http://www.fertilityfriends.co.uk/forum/index.php?board=553.0

Hopefully you will find that you aren't a carrier, but if you are then technology is there to help you, often with NHS funding. I'm still amazed at how our daughter was brought into the world, that she was once 4 tiny cells placed into the freezer - only here because of the miracle of science. We had to undergo counselling prior to IVF because we needed to use donor eggs rather than genetic screening, but we found the process very positive as we were given so much support and guidance by professionals with wide knowledge married with huge empathy as to the worries and fears of those they help.

I know it must feel like you are looking into an abyss, but you will be supported every step of the way. Take care of yourself.

FBaby

I do believe that before you would go ahead with PGD, it is a requirement that you get counselling AND that you are deemed psychologically fit to go through it. This means that if you still have those doubts, they might consider you are not ready yet to go through it and will encourage further counselling.

Maybe you could go and speak to your GP about it?

clairev36

I went through genetic testing around 16 years ago for Huntingtons disease. My mother has the faulty gene putting myself & my brother at 50/50 risk. Those with the gene will develop the fatal disease, it's just a question of when so like living with a time bomb. I was in the same position, stable relationship, buying a house, knew children were hoped for but adamant I wouldn't knowing put any children at risk of a fatal disease. At that time there wasn't the technology for the IVf with genetic testing. We only knew about the HD when an aunt became ill in the mid 90s, it took some time to get the diagnosis as both my grandparents had passed away from other conditions before they exhibited symptoms. My uncle and mother then went through genetic testing my uncle was fortunately negative but my mum positive. My mums way of dealing with it was to carry on and not talk about it so as a result I went through the genetic testing without telling my family. My GP referred me to my local centre, there was then a lot of meetings discussing everything, family dynamics, dealing with the outcomes, even negative results can cause guilt etc. They didn't like the fact that I didn't want to tell my parents I was going through testing. Looking back I was quite blinkered and just wanted to know. Once blood was taken it was a two week wait (this may have changed) it wasn't easy. On results day they gave you the first appointment of the day. I was immediately told I was negative, I then told my parents later the same day and have gone on to have two girls. My brother was tested a few years ago which brought all the emotions flooding back, fortunately he too was negative and i now have a beautify niece. It's always at the back of my mind though, my mum presently is not showing symptoms but has had a tough few years health wise, as she was widowed nearly 10 years ago I do feel responsible for looking out for her.
Looking back I do wonder how I could have coped with a positive result but feel lucky I have been 'spared'
I would make an appointment to see your GP in the first instance. Good luck xx

Emmylou_2

I had genetic screening a couple of years ago for Alpha-1-Anti-Trypsin deficiency (A1AT) and Tay Sachs.

My mum died when I was a teenager from COPD; at the time we knew that it was because of a genetic fault (a protein deficiency was mentioned, now we know that it is A1AT) and pretty much every chest physician and geneticist within a 100 mile radius came to examine her in hospital (this was the early 90s). I was offered the testing at the time but refused. I took them up on the offer when I was about to get married and therefore thinking about babies etc and wanted to know whether I was likely to end up dying young like my mum. I found out that I am a carrier of the defective gene but do not have the deficiency (at least my dad gave me ONE decent thing!)

DH and I are also both of Ashkenazi Jewish ancestry so while I was at the appointment I mentioned this to the geneticist who tested for the "usual" Jewish genetic conditions (we were primarily worried about Tay Sachs). I came back negative so we didn't bother getting DH tested (it's recessive so needs both parents to be carriers to run the risk).

Maincarer

My son has Duchenne muscular dystrophy. When he was diagnosed at the age of 5, the average lifespan for boys with his condition was 16. He is now 24 and whilst there currently is no cure current research is very encouraging.

There was no history of the condition in my family and my understanding is that my son's condition was the result of a spontaneous mutation at the point of his conception.

Does your cousin have any brothers ? If so, are they affected by the condition?

I was offered genetic testing when my son was diagnosed. My mother was also tested. Our results were similar. The Consultant confirmed that my Mother definitely wasn't a carrier but because I had had a child with the disease they couldn't rule it out.

My son is an only child. I have had to watch him change from being a normal able bodied child to being seriously physically disabled. As my Mother used to say there is more than one victim to this disease.

I cannot advise you what is best for you but go for the counselling that is offered before you are tested. As there is a history in the family and the testers know the specific gene - it's the largest we humans have - they can test to see if you are affected.

I have been asked if I would still have had my son if I had known. The truth is that I love my son. Through him I have learnt what unconditional love is. I know that he is more than likely to die before me and I cannot imagine a world in which he no longer is in it.

I hope that you have good news.

charliewocka

A bit of an update on this. Myself and the OH had a long discussion again about where we see ourselves in five years time and we have decided we would definitely like to have children, so need to find out what the story is. I went to my GP who sat and had a long chat and she has agreed that we need to be referred to a geneticist. She is going to do some research and find a suitable one (she hasn't had to refer somebody for this before) and then send me the details. My medical insurance won't cover the cost as it's 'selective screening' and so not a health necessity but we've agreed to stay private for the speed element.


Unfortunately my mind is all over the place as I have also had a lump discovered in my breast and have a scan next week to investigate. The rational side of me is saying I'm sure everything is fine, but there is the panic 'worst case' playing around as well. Doesn't help that OH was away for the weekend, and came home on Sunday evening before flying away for work this week so geeling completely isolated

charliewocka

Maincarer wrote: »

Does your cousin have any brothers ? If so, are they affected by the condition?

I cannot advise you what is best for you but go for the counselling that is offered before you are tested. As there is a history in the family and the testers know the specific gene - it's the largest we humans have - they can test to see if you are affected.

Maincarer, I read your post when you first put it up, but I honestly didn't know how to respond, so I can only apologise. It was very touching, and thank you for taking the time to write that.


My cousin DOES have brothers, but none are affected. However, another one of my cousins (on my mothers sister side) has had a child who is now aged three and showing some very similar symptoms. She hasn't been to the Dr though about it. It makes me so angry/frustrated that people in the family seem to be ignorant about the condition and not paying any attention.


When being tested, we may not be able to test for the specific gene, as the lack of communication and the actions of my aunt (who has custody of my cousin's son) means she wouldn't give the details of the condition over, so I hope that IF I am a carrier it is of one of the common mutations that will show up in testing. Or, as somebody else mentioned, there may be a data base of current people affected by the condition that a geneticist could access.


I'll start first with the referral to the geneticist and go from there. With the current health scare that is going on with me in addition to this, I am in bits, as I am thinking the worst and wondering if we'll actually ever get to the stage of having a child. I know I'm being overdramatic and I'm sure it's all fine, but I'm having a day of being upset and tearful!


Wishing you and your son lots of love
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