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Jewish Health

Genetics and inheritance 1

The health conditions discussed on this site occur with a higher than average frequency amongst those of Jewish ancestry - especially Ashkenazi Jews - than in the general population. If a condition is more common in one particular ethnic group, it is likely to be genetic or have a genetic component. For some conditions, including Tay Sachs, MSUD (Maple Syrup Urine Disease), familial dysautonomia and Cystic Fibrosis, specific genes in which inherited mutations cause the condition have been clearly identified. These conditions are sometimes called ‘single gene disorders’ and it is relatively easy to test for them once they have been identified. With the exception of Torsion dystonia (participant 19) they are inherited as autosomal recessive genetic disorders. This means that a person must have inherited faulty copies of the gene from both parents to develop the disease. A person who has only one copy of a faulty gene but does not develop the condition themselves is called a ‘carrier’ because they can pass the gene on to their children.

Things are more complicated for conditions such as breast cancer and ovarian cancer or Crohn’s disease. Multiple genes are likely to contribute to a person’s overall risk of developing these conditions and environmental factors such as diet and lifestyle also play an important part. As both cancer and bowel disease are common health problems anyway, participants who were affected by these conditions were often unsure whether there was a genetic component to their illness.
 

The test Dr Koch helped develop in the 1970’s has been used to identify carriers of Tay Sachs and...

The test Dr Koch helped develop in the 1970’s has been used to identify carriers of Tay Sachs and...

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I was doing research work on enzyme deficiency diseases at that time. And ironically Tay Sachs Disease was on the list, although I didn’t know much about it, it was just on a list of things to do at some time. Well I switched straight away. I researched onto Tay Sachs disease and it took a couple of years for it… nothing was known, the enzyme at the time wasn’t known. We didn’t know what it was. We had an idea but didn’t know. We made a mistake and thought it was a single enzyme. In fact it was three enzymes, only of which two were involved in Tay Sachs disease.
 
That stopped us for a while. But in two years we’d managed to elucidate what the system was and we came up, very luckily indeed, it was a bit of luck. We came up with a diagnostic simple diagnostic procedure to test for Tay Sachs disease, for carriers of Tay Sachs disease and it turned out that could be done, and you know we could test a mother who was bearing a child from eleven weeks onwards. We could test whether the child was a Tay Sachs child. And if so, they could terminate it, at their, at their wish.
 
And from then onwards we no longer wanted to try for a child to be honest. And our GP and our consultant said that you’ve had enough. It was enough. It was enough for my wife I can tell you. It was a terrible period of time. The trauma was indescribable really.
 
We then ... I worked with [hospital name] and they had other patients and we all got together and in those days we formed known as the Tay Sachs Foundation which was a foundation to deal with similar people. It was later taken over by Jewish care, who operated then, and still operate a Tay Sachs screening programme, which screens potential people who are of Jewish origin, although that’s not, we don’t stick to Jewish if necessary, but of Jewish origin. And particularly of Ashkenazi origin, where they’re the highest risk patients. And we counsel, and my wife and I are counsellors for Tay… for Jewish Care.
 
We counsel and we’ve counselled many people and told them what the position can be, and how to deal with it in the best way possible. And there it stands at the moment. Really the test that we devised, my team and I devised in 1967 still remains, it’s exactly as was, with the addition of a DNA which we weren’t involved with. DNA wasn’t elucidated at that time, or certainly the test weren’t. But DNA is not as accurate in its, in its diagnosis because it depends on whether… the maximum risk is from Ashkenazi Jewish persons. And out of the biological test, the enzyme test that we devised is non specific for anyone. It will just test whether the enzyme is there or not. The DNA is different, the DNA you have to programme it to look at a particular gene to see whether that gene is, and there’s four genes involved, three particular in the Ashkenazi’s.
 
They’re different in different religions. They’re different in different sects and so on and nationalities, Tay Sachs disease is not specific entirely to the Jewish religion. It’s a 40% risk factor for the Jewish religion, and all else are 60% and that’s quite a lot of all elses.
 
The, the interesting thing is that since we ran this programme with Jewish Care, which is education to start with. We educate the Jewish community. [Name] and I we go to schools, and I give a talk for about an hour to the sixth form and uppers on the disease and what can happen, and what should be looked at. Within a week or two we then run a free screening programme at the school and we check the students out, and we… they’re told quite directly and no one else is involved except their GP, whether they’re carriers or whether they’re not.
 

And as a result of years of doing this
 

Despite a high incidence of bowel problems in her family, Sara had never heard of Crohn's disease...

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Despite a high incidence of bowel problems in her family, Sara had never heard of Crohn's disease...

Age at interview: 48
Sex: Female
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You see they say it’s genetic and it’s in the family. But all the people I’ve spoken to don’t have it in the family. It’s just the one child. So I don’t know where genetics comes into it. But I can see there are definitely a higher proportion of patients, children or adults with Crohn’s in the Jewish community than there are outside it.
 

When we were in the hospital for surgery, I was friendly with another mother whose child was going to have the same surgery, she said she was in a school with 400 children and this child was the only one with Crohn’s. But in our schools [laughs] there are quite a few. So it’s very strange. She didn’t know anyone else with Crohn’s. Whereas I can list them one after the other so there must be something there. I don’t know what.  

 

In Harvey’s experience illness and Judaism seem to go hand in hand. But the thought that his...

In Harvey’s experience illness and Judaism seem to go hand in hand. But the thought that his...

Age at interview: 63
Sex: Male
Age at diagnosis: 56
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I suppose only in the sense that illness and Judaism seem to go together. You meet so many Jewish people who have so many health problems. It’s almost like if you’re Jewish you’re going to have health problems, you know, and yet I know a lot of Jewish people who are perfectly healthy and fit and well. But it does seem to me that a lot of Jewish people that I know do have health problems and some of the problems are quite major. It’s something you live with I think, because it’s almost a hereditary thing and within the genes it sometimes makes it a bit easier to deal with. You know, you are stuck with it. These are in your genes. Does that make sense? 

 

Gary can see how Gaucher’s disease became a ‘Jewish condition’ because of intermarriage.

Gary can see how Gaucher’s disease became a ‘Jewish condition’ because of intermarriage.

Age at interview: 53
Sex: Male
Age at diagnosis: 35
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I was given some, some information to read but it was quite scanty at that stage, and I looked up on the internet but the internet was fairly new at that time. So there wasn’t much to read, but I can’t remember how it came about. Yes. Somebody at the girls’ dancing school, either knew or knew of [professor], who was the head honcho of Gaucher disease. So I wrote to him and said that I’d just been diagnosed with this disease, can you tell me more about it. And he sent me loads of stuff. So that’s how I learnt more about what it was. What it could do if it wasn’t treated, and all that stuff, and why they called it the Jewish disease in the beginning although now they’ve found that in fact its, its not so. That at first they thought it was not confined to Jewish people but it was largely, they originally it was due to inter-marriage of, of Jewish people that was causing the problem. But that was quite interesting.
 
How did you feel about that?
 
How did I feel about?
 
When you read that, about it being a Jewish disease at that point?
 
Well it, to be honest, it made sense to me, because if you go back to the early nineteen hundreds, Jewish people tended to live in very small communities and they, they tended to when they got married, they tended to marry certainly within the faith and usually it was cousins getting married. I mean they didn’t tend to marry brothers and sisters. But certain cousins were marrying each other and so there was that level of intermarriage that could have caused a problem. I mean we know if, if it is a known scientific thing that if members of the same family marry, there is a risk of difficulties in further generations. So, you know, it seemed logical to me, that if, if those people, the Jewish people from the year 1900s were inter-marrying than this could quite easily come from there. So I didn’t have any problem with it. It seemed quite logical. 
In some cases, receiving a genetic diagnosis encouraged people to look more thoroughly for patterns of illness across the generations.
 

Deborah’s family were all screened after her Factor XI Deficiency was discovered.

Deborah’s family were all screened after her Factor XI Deficiency was discovered.

Age at interview: 75
Sex: Female
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But he insisted that my family were all screened. My husband was screened. He’s also of Ashkenazi origins, but his blood was normal. My older son’s screening was normal, just like my husband, but my youngest son was exactly like me, and it was a Factor XI deficiency of less than 1%, which is very, very low. Almost nil.
 
Since then I’ve discovered that there is quite a number of people in different parts of the world, some who I’ve met, have Factor 11 deficiency, but not as low as me. The last person was an American who was here. She told me she had the same thing, but she was, I think 12% or something like that, whereas I’m less than 1%. So it’s practically none. So that was the difficulty. 
 

Aaron and Rebecca reflect on how they had no idea that the CF gene was in their families.

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Aaron and Rebecca reflect on how they had no idea that the CF gene was in their families.

Age at interview: 34
Sex: Male
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Because while we are both carriers we had no knowledge of it previously. And we have no knowledge of any other family members that had had it. I mean obviously if you go back to a couple of generations they wouldn’t have known and on both sides there were child fatalities, within, you know, grandparent level or great grandparent level. So, but, you know, you are talking, you know 1800, 1900 years ago and it was more common anyway so you know there were lots of things probably that weren’t diagnosed. So who knows whether one of those, whether one of those children was, you know, did suffer from CF. But you wouldn’t know now, there’s no way of finding of out. Yes, so we had a lot to kind of catch up on, you know. 

 

Gary talks about the way in which Gaucher disease is passed on.

Gary talks about the way in which Gaucher disease is passed on.

Age at interview: 53
Sex: Male
Age at diagnosis: 35
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You can only develop it if you have both, you have to have both, both the, the chromosomes or whatever it is. You have to have both one from the father and one from the mother. So there’s only, it’s not guaranteed that even if, even if you marry, even if both parents are carriers there’s no guarantee that the child will get the disease, because you could get the other side, and you could get nothing and nothing. Or you could get a diseased one and a non diseased one and that would be a carrier. So there’s no guarantee. The only guarantee of the child having the disease is if both parents actually have the disease. Other than that there is no a guarantee. But obviously the greater, you know, if you have the person who has the disease and a carrier, then you don’t have much chance of not getting it.  

‘Being a carrier’ meant different things to different people. For many, the revelation that they had a ‘faulty gene’ came ‘out of the blue’. Others were vaguely aware of health problems in previous generations but had not realised that there was a medical label or indeed a genetic basis for it. One man with Factor X1 Deficiency, a recessive disorder causing haemophilia, had never heard of it and only found out that he had the condition after a liver biopsy led to life-threatening blood loss. Another family with a history of Factor X1 Deficiency described how a there was quite a lot of variation in how badly family members were affected by the faulty gene from one generation to the next*.
 

Colin and Ruth knew that their father bled easily but did not realise this was caused by a...

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Colin and Ruth knew that their father bled easily but did not realise this was caused by a...

Age at interview: 77
Sex: Female
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Colin' Let me put a fraction of context into this. The normal level for Factor XI is between 75 and 100. Dad’s was 3. So it was really very low.
 
Helen' Colin’s the only other one …
 
Colin' I’m the next lowest, but I’m nowhere near as low as dad. I mean my reading is 45. And anecdotally when, obviously we discovered that dad had this problem, Ruth and I were both checked out. We discovered that …
 
Ruth' And our uncle was as well.
 
Helen' But what is interesting which we discovered, I think while he was still alive, but, other members of his family, that come from his father’s side, also suffered from this. One of his first cousin, and this first cousin’s daughter also had this condition. Again, it wasn’t diagnosed until after his was.
 
And so once he was diagnosed how it was that you were brought in to have your testing done?
 
Ruth' We were just advised to…
 
Colin' We went to see our GPs.
 
Ruth' Because, yes, because his count was so low. And, I think there was a strong feeling that it was hereditary. I think people knew that anyway. So we were advised to be tested.
 
Helen' And [brother’s name] my brother-in-law as well.
 
Ruth' Yes, so it was really the three closest.
 
Helen' It was the blood relatives, yes.
 
Ruth' Relatives. And because none of us had a particularly worrying count, although it was low, it wasn’t silly low. And it just stopped there. So none of [brother’s name] children were tested. And [relative’s name] wasn’t.
 
Helen' Haemophilia is passed down through the mother but it’s only males who get it.
Colin' Yes, that would be right. So it’s not even sort of consistent. Its one of these things that seems to jump, possibly mutate a little, I don’t know.
 
Did you know if your husband’s father or mother had the same problem?
 
Helen' Well it came from his father’s family.
 
Ruth' Yes, but did his father have the same problem?
 
Helen' I don’t know. Well I wouldn’t have thought so, because …
 
Ruth' Nobody ever mentioned it. Did they?
 
Helen' No, I mean as far as I know, I mean he did have operations over the years, and I never heard that he bled, you know, kind of unusually.
 
Ruth' But it wasn’t just the operations was it, because we knew that if dad cut himself.
 
Helen' Yes.
 
Ruth' That he would bleed. It wasn’t just surgery. It was …
 
Helen' No that’s true, yes.
 
Ruth' Anything.
 
Helen' I never heard that grandfather did so I’m assuming he didn’t. I don’t know.
 
Ruth' No I was never aware that he did.
 
Helen' No, no.
 
Colin' I don’t think we would have been though because these things were sort of brushed under the carpet.
 
Ruth' Well no, because I think we just kind of knew that dad did. It was just something that was there.
 <
 

Marilyn and Stewart want to raise awareness of Factor XI Deficiency so that people are tested for...

Marilyn and Stewart want to raise awareness of Factor XI Deficiency so that people are tested for...

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Marilyn: Well I think yes, and the whole thing has been quite harrowing really, because the knock on effect is that all the children have to be checked, any blood line, has to be checked and people must follow it through and I also think people must talk about it which I think is very important, because we had never heard of it. There are so many people out there that haven’t heard of it, that it needs, needs to be told, and that’s when I’d seen your first research. I think he’d just come out the hospital. And I sat there and I thought that’s wrong, because this has nearly killed you and no one’s talking about it.
 
Stewart: Yes, well I went through all the different conditions that you’ve mentioned in your original research and wondered why Factor XI hadn’t come up.

Marilyn: Yes, but I think it’s because it’s not spoken about, because it’s not out there. It’s not like Tay Sachs or anything like that that’s spoken about and there’s not a charity for it. You know, so it’s, I think it’s like a hidden disease. 
 

Dr Koch views himself as “one of the unlucky ones that the mutation occurred”.

Dr Koch views himself as “one of the unlucky ones that the mutation occurred”.

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Can I ask you because you are a scientist how you feel about being a carrier of the gene? Now at this point that you’ve got such an effective system in place for screening?
 

Well it’s one of those unlucky functions. Every time a cell divides in the human body, meiotically, not mitotic, you know, to form a sex cell. Every time that happens you have, I look at it in awe, at the complexity that that, that, that takes. It’s a massively complex thing and to me it’s in wonderment that these things don’t happen all the time, and that other things don’t happen, but they don’t. It’s amazing. So I’m just one of the unlucky ones that the, the mutation occurred and unfortunately in one of the genes that caused the problem. I don’t, I don’t have any bad feelings about it. As I say to you if I were to look at my total genome and I was able to look at every single gene in detail to see whether it was normal, abnormal or what. I think I’d be horrified at the result I would find. It’s just that some of these don’t come out. You know, I mean I’ve gone bald. I went bald at an early age. That’s a genetic function. So what? I mean it’s unfortunate.  

How people felt about carrying a ‘faulty’ gene was influenced by the type of condition, their family context and their stage in life. A couple who had their baby diagnosed with Cystic Fibrosis (CF) while still in the womb, were far less concerned about their status as carriers than about how the condition would affect their unborn child. Another woman who found out in pregnancy that she was a carrier for Tay Sachs was incredibly relieved when her husband tested negative, as it meant her baby and any future children they might have were not at risk of developing the disease, even though they might be carriers.
 

Rebecca and Aaron were not offered genetic counselling when they found out they were CF carriers...

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Rebecca and Aaron were not offered genetic counselling when they found out they were CF carriers...

Age at interview: 34
Sex: Male
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Have they given you counselling about that?
 
Rebecca' Well normally you get counselled when you find out that you’re carriers, but because we were already pregnant at the time we never got the counselling. But we can have, and we will get, go to the genetic counsellors at, its at Guy’s to find out what the options are. Although I think we know, unless there’s some miraculous new cure.
 
But is it definite that the child would definitely have CF?
 
Aaron' No, its only one in four chance.
 
Rebecca' No it’s a 25% chance that the child has CF.
 
Aaron' They get the gene from, you know, there’s a chance of getting the gene from both of us virtually. They have to get it from both of us. So there’s a chance they wouldn’t get it at all. Then there’s a chance they’d get it from just one of us, so it’s a one in four chance they get it from both of us. And we worked out the odds originally. The chance of her having CF was one in four, and in actually fact, but for her to be born, for her to born to us who had no previous idea and I mean the meconium ileus as well, which again is only a one in …
 
Rebecca' 20% is one in five.
 
Aaron' One if five chance of a CF child having meconium. So combining everything together it was about one in twelve and a half thousand or something chance….
 
Rebecca' Its only one in ten now I think.
 
Aaron' I thought it was twelve and a half because of the five...
 
Rebecca' No.
 
Aaron' Well it was a lot, of a child being born with CF and meconium ileus to parents who had no previous knowledge, which is what we decided on, one every four years or something, even at the hospital the size of the [hospital name], there was only one occurrence every four years. So …
 
Rebecca' Yes, it was quite…
 
Aaron' We must have been special [everyone laughs].
 
Rebecca' But it just makes us feel like its just statistics [laughs]. So you just don’t know, you can’t risk, you know, you can’t work your life on statistics. I think we knew that already.
 
Aaron' Well it was because of us meeting wasn’t it?
 
Rebecca' Yes.
 
Aaron' There are one in 25 people that are carriers.
 
Rebecca' Ah no, that’s where it got more complicated, because it’s one in nineteen Ashkenazi Jews.
 
Aaron' Hm.
 
Rebecca' And then you got confusing, because you’re only half.
 
Aaron' Yes, because my dad converted so I’ve got ...
 
Oh that’s interesting.
 
Rebecca' So our statistics went a bit screwy [laughs].
 
Aaron' So yes, working from… the base if you like of use, happening to meet and both being carriers.
 
Rebecca' Yes. It was horribly complicated. It’s what you do, we’re sad like that. [laughs] It’s how we deal with things isn’t it? Thinking…
 
Aaron' And down. I suppose, I don’t suppose know whether it’s worth noting, she has actually had very mild symptoms really. You know when she was born we didn’t know
 

It wasn’t a complete shock to Nicole when her daughter tested positive for carrying the Tay Sachs...

It wasn’t a complete shock to Nicole when her daughter tested positive for carrying the Tay Sachs...

Age at interview: 54
Sex: Female
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So when you found out, when you first got tested, you were actually pregnant at that point?
 
Katy' Yes. I was already pregnant.
 
Oh I see.
 
Katy' No, I mean that would be the only reason I really found out and then from then mum decided to make sure that everybody else got tested just in case.
 
Nicole' Well yes, because I think up until then, it was, as I mentioned earlier, you know, we were aware that there was a cousin and his wife had had two children that had died as infants. And I don’t even know. I think somebody might have said, “Oh I think they had Tay Sachs disease,” but they actually weren’t sure. They did say they definitely had that.
 
So I suppose when you said that you were, that you had tested positive for Tay Sachs it wasn’t a complete shock, but then of course it made me start to think, well all right, if you’re a carrier, and clearly the carrier was my husband, was [name], because it’s, well yes, because it’s in his family and obviously I’m not a carrier because I’ve got three children none of whom have had Tay Sachs. And so, I remember looking at him and thinking ‘oh my goodness’ [laughs].
 

And so my younger daughter, I took my younger... but here they have regular adverts in the Jewish Chronicle, and once every two or three months they have Tay Sachs screening days and you can go, when it’s normally in a, I wouldn’t say a church hall, but clearly it’s not, it’s in a hall somewhere in Golders Green. And you go and that’s run by the Tay Sachs Society. And you have blood taken there and when my daughter gave her name to the, the person that was coordinating it, she said, “Well why are you here?” and I then discovered that these particular cousins were volunteers so they clearly, their children did have Tay Sachs Disease because they do internal audits. And then she was tested and she too was a carrier of Tay Sachs.  

 

Katy doesn’t think of being a Tay Sachs carrier as ‘serious’ but she wants her children to get...

Katy doesn’t think of being a Tay Sachs carrier as ‘serious’ but she wants her children to get...

Age at interview: 54
Sex: Female
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What did you think when you found out you were a carrier then? You said you weren’t surprised, but did you feel sort of …?
 
Katy' Yes, I mean I guess I wasn’t surprised and my initial thought was just, because obviously being pregnant I was just initially, but I didn’t, because my husband, his mother is [um] converted Judiasm, so I kind of felt that our chances were slightly slimmer, because obviously he would have only been able to get the genes from one side, but then I think somebody told me that another big em... I was going to say species but that is not the right word. Another big grouping of people that have it were French Canadian. And she was French Canadian, so even though she wasn’t Jewish she came from a French Canadian background, but so my initial was just, you know, making sure he wasn’t a carrier. I mean I don’t think it’s ever bothered me. I don’t think I’ve ever felt any different knowing that I carry a gene for Tay Sachs. Please god I only have children with my husband and he’s not a carrier and that’s sort of where it stopped. So it’s never really ….
 
Nicole' But having said that it’s an extra thing that you have to think about isn’t it? Because I mean you’re now, you’ll think to yourself, certainly I found out, I’m thinking well all right, so that all the children have got to be tested. And your children have got to be tested.
 
Katy' I have to say this is the very first I have ever thought about that. And it’s true because okay, so I sort of nullified it from my end, and said okay I’ve married someone without Tay Sachs so therefore our children will not have Tay Sachs. However, if I pass the gene onto my children you have that idea of the next generation.
 
Nicole' I mean it always is going to be there. I don’t know how …
 
Katy' I may have grandchildren you know.
 
Nicole' Yes, and that’s how it’s perpetuated itself.
 
But I mean you’re living in quite an observant setting now?
 
Katy' Hm.
 
So then …
 
Katy' But I’m not sure that it’s observant enough that my children will all have introductions to their marriages in which case again… I mean I just kind of hope that through all these kind of things. I mean I don’t really know much about it, so I don’t know. I mean you can’t eradicate the gene can you? Because clearly the gene even though it’s not producing a Tay Sachs child is passed onto my children, so it will continually...
 
Nicole' I mean there are the chances of it popping up again aren’t there, further down the generations? I mean presumably how it popped up all those years ago.
 
Do you know if any of your husband’s brothers are carriers?
 
Nicole' Oh I don’t… my husband’s got one brother. The chance of it can you imagine, no. But having said that I don’t know, but I’m sure he hasn’t. I mean my husband hasn’t been tested. I mean we’re just assuming that it must come from him. And I did mention it to my sister in law but I think that they are not really part of… they are not religious people at all. So the chances of them marrying anybody that were Jewish I would think would be fairly remote.
 
I don’t know whether… I don’t actually think it&
Others, who had completed their families before finding out that they were carriers described feeling guilty about passing on ‘faulty’ genes to the next generation. They worried about the right time to tell their children that they, too, might be carriers.
 
Some people felt a degree of stigma and guilt about having a genetic condition. A couple of people said they would make use of pre-implantation genetic diagnosis (PGD) - going through IVF and then testing the foetus before it is implanted to make sure it has not inherited the faulty gene copy – to ‘eradicate’ the faulty gene from the family line.

Several people saw it as a matter of personal responsibility in choosing to take a predictive test and find out their genetic status. They struggled to understand relatives who didn’t want to know.
 

Dr Koch does not agree with anonymous testing for Tay Sachs.

Dr Koch does not agree with anonymous testing for Tay Sachs.

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What do you think about the anonymous testing that goes on among orthodox Jewish people?
 
I abhor it. I think it’s a disgrace. Why I think it’s a disgrace is because a) they’re charged for it. We don’t charge anybody for it. They charge about £150 a test. You’re thinking about the Dor Yeshorim yes? But worse than that, here you are paying for a test that you’re not given the result. And that actually in my book is illegal. If you ask for the result you must be given it. And they won’t give it to you. Now that is withholding what you’ve paid for. And therefore that is, it’s illegal and it’s totally immoral. They do more then one test I grant them that. They do seven or eight something like that. I forget the total spectrum of tests. They never, all you get is, you know, the test all you get is a number and so on?
 
Now what happens if that person whoever it may be decides to marry out. They don’t know they’re a carrier if they are one. They may not be. They may be a carrier of… Because they don’t tell them this. They just give them a number and until they marry up with another number they say, “No.” They don’t say which one of the test profiles has failed or is incompatible. And so what, if, two carriers marry? I mean we’re two carriers. We didn’t know I grant you that. We married. And we’re… okay we’ve had our problems, but today you won’t get that problem. You can overcome it. It’s immoral not to tell them. They won’t tell them. And if we literally screen a person and they want to get screened by... they won’t do it. Having screened them and told them the answer they won’t do it. Why?
 
What do you mean they won’t do it?
 
They won’t screen them.
 
Oh I see.
 
They won’t screen them. If they’ve been screened by us or anybody else and told whether they’re a carrier or not, they won’t screen them. It doesn’t matter if they want to pay for it. They will not screen them. We have to tell anybody, we have to make sure, that’s why we get the forms filled up first whether the person is ultra orthodox and is likely to go for a Shidduch. You understand Shidduch?
 
Yes.
 
Well if they’re going to go for a person… I forget how they put it, they put it very nicely. I say arranged marriage. I get told off for saying it. They say it’s not an arranged marriage, it’s an introduction or something. Anyway it doesn’t really matter, because may be the other person’s ultra orthodox and wants to be screened the.... won’t do it. And my view on it is that they are operating… every time we do it. Every time we get involved with them, they won’t come and talk, they won’t come and talk. They’ll talk at the reception, but they won’t talk otherwise. Why? What’s there to hide? Now I abhor it. I think it’s utterly, utterly wrong, but unfortunately we cannot get into the ultra orthodox. They won’t deal with us at all. They have their own way, and all I can say is I don’t know whether they’ve had Tay Sachs children or not, because I have no means of access. But outside of them…Like I said when I started, the normal religious [laughs] person we know those very well. They won’t even let me go to the ortho.. really orthodox, ultra orthodox schools. We’re excluded completely. We go to the … well pretty exclusive, but not ultra orthodox Jewish schools, and some of them, of the students there. Not a lot, but some of them are ultra
 

Cissie would like screening for Familial Dysautonomia introduced because “it is not a nice life...

Cissie would like screening for Familial Dysautonomia introduced because “it is not a nice life...

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Is there anything we haven’t talked about that you think is relevant to your experiences?
 
As a result of my experience I do hope that in England they do take on screening for FD because it’s not a nice life to have for anyone. And I think people should be educated about these conditions so that they know what is out there, and this is one of the things, why I’m happy to do this, so that people know what life is like with these conditions. And hope that they do get tested and if they do know anyone that has similar symptoms then they should test definitely. Or think that it might be this, because it’s no joke, diagnosis is important if you want the right treatment.  
However, one woman spoke about being a Tay Sachs carrier in quite positive terms, saying it was part of her identity - something that made her feel connected to a lineage of ancestors.
 

While Miriam has not encountered much stigma herself, she would want her children to be tested...

While Miriam has not encountered much stigma herself, she would want her children to be tested...

Age at interview: 47
Sex: Female
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My own personal experience is that my brother went to a Tay Sachs screening when he was a teenager and it came out that he was a Tay Sachs carrier which was a big surprise because my family are very intermarried. I mean my grandparents on one side are first cousins. So they, my mother’s parents are first cousins which is obviously very close relatives and my father’s side, the family is extremely has married into the same family for two or three generations. So it’s amazing that we have no history… I know all about the family, there’s no history of a baby dying. So we had always assumed that we didn’t have Tay Sachs because, just presumed that there was no history of it.Anyway after my brother was tested I    also went to be tested and I discovered I was also a carrier. And at this stage it was well before, I don’t, I think it was while I was still at school so it was just a theoretical thing that I knew about. 
  
However what was interesting was that I did actually meet three young men who I quite liked who were all carriers. So that was for me, quite, sort of depressing and most of them and links going back to Vilna and I’ve got no reason to, I don’t know, but it seems to me that that’s an indication that Tay Sachs because we’re also from the outskirts of Vilna and my presumption is that it’s from my father’s side.
 
My father and mother have never got tested because they’re past the age. And on my father’s side my close cousins have all married out. So it’s not very, it’s not very important to them and the brother who is a carrier is, like me, resembles that side of the family, which I don’t think is proof of anything but he does. And, and so I obviously intend to get my children tested for Tay Sachs because it could very well be that some of them are carriers. But as I say, it’s a family which is intermarried, well intermarried into another family. I presume the other family then are not carriers, that must have been what happened, and therefore we’ve not had any cases of it. So I’ve never seen a Tay Sachs baby thank goodness. And I’ve no history of it in my family in, in the form of babies dying young. So that’s my story.
 
Okay. So have you got just the one brother?
 
I have, I have two, I am one of four and all four of us got tested after my brother [name] had been tested and was a carrier, and he and I, two of us out of the four are carriers. So, and then I said to all my other cousins on every side, the ones who were intending to marry Jewish people, they should be tested. And on my mother’s side nobody’s a Tay Sachs carrier so I presume it’s on my father’s side, but I don’t know. Yes. And I don’t know whether there is a proven link with Vilna that’s just my presumption which I’ve got no basis for. But…
 
And did you, were you worried at the time you might be a carrier or was it one of those things that you didn’t really think about?
 
No I didn’t really think about. Once I discovered I was a carrier, it was still very theoretical. And I was just very, and in fact it’s never, as I say it didn’t turn out to be a problem, because within, the people I met in England, there wasn’t a problem with me saying you know, “I’d like you to be tested, because I’m a carrier.” And people, I suppose the people I was meeting, mostly people who are educated enough to know what it meant to be a carrier, that to marry a carrier if you weren’t a carrier was not something of great import and therefore people didn’t say, “I don’t want to meet you aga

* A ‘low reading’ in relation to Factor X1 deficiency refers to the substance that makes blood clot in the case of injury. So the lower the Factor X1 reading, the longer it takes for blood to congeal and the higher the risk for even minor injuries to be life-threatening for that person. 

Last reviewed November 2018.
Last updated June 2015.

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