Dr and Mrs Koch - Interview 35

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

Background: Dr Koch is a retired pathologist. Dr and Mrs Koch have two grown up children. Ethnic background nationality: Jewish

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After having a healthy son in the late 1950’s, Dr and Mrs Koch had a baby daughter whose developmental difficulties became apparent at six months. After assessment at two hospitals, they were told that the baby had Tay Sachs disease. At that time, little was known about the disease and the couple describe feeling “shattered” by the news that their daughter’s life expectancy would be 3-4 years. There was no counselling or diagnostic tools available at that time, but the couple thought that, statistically, they were unlikely to have another baby with Tay Sachs. Their third child had Tay Sachs too and both children were cared for until their deaths in a long term stay hospital. Dr Koch describes what a terrible experience Tay Sachs is for both the child with the condition and family members. 

 

Coincidentally, at that time, Dr Koch was researching enzyme deficiency diseases and Tay Sachs was a condition on the list. He switched his resources to focusing on Tay Sachs disease and developed a diagnostic procedure to test for the condition. He and some other parents set up the Tay Sachs Foundation which was eventually taken over by Jewish Care. This continues to operate a Tay Sachs screening programme which has been very successful in reducing the number of babies born with the condition. 

 

Dr and Mrs Koch counsel people about being carriers of the Tay Sachs gene and run educational programmes in schools. After the birth of their third child, they adopted a son and describe their relationship with both sons as “wonderful”. 

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

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.  

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'.

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

Dr Koch reflects on the "horrors and trauma" of having children with Tay Sachs.

Dr Koch' There was no counselling. Nobody knew anything about it. We then learnt, of course we then realised we were both carriers of the Tay Sachs gene. So, now armed with that at least we decided that we were unlucky in this particular event and the statistical lots for having a Tay Sachs child is one in four. Two in four would be a carrier and one in four would be totally free.

 

With that knowledge now, we thought, well we’ll take a chance. There was no counselling and there was no clinical diagnostic tools available. So we went in for a second child. Unfortunately that too turned out to be a Tay Sachs child, and we went through the same horrors and trauma. It really is, it’s a terrible thing to watch a child. Although it’s said that the child is not in pain, the child it must be in intense discomfort, it’s deaf, it’s blind, it can’t swallow, it can’t digest its food properly, it regurgitates. It goes blue in fits. There’s all sorts of things that happen, that are not indicative of this child being very comfortable. And it’s a terrible thing for a mother to watch something like that. And I’m going to say in front of my wife here, because I know she hasn’t got over it yet. Is that right dear?

 

Mrs Koch' That’s quite right. Yes. Yes.

 

You know, I’ve made my, wealth as you’d like to put it and we’re giving some back to the, to the population and trying to avoid this horrible problem that we went through, because it’s, it’s, lasts your lifetime it doesn’t go away. It does. I know that. And I know my wife has still not one hundred per cent recovered from it. Neither am I. I buried myself in my work for a period of time. Tried to get through the situation and in effect I managed to do something as a result of it, but you know, it’s not easy, some people just never manage that. 

Dr and Mrs Koch had not realised the extent to which their son had been affected by his two sisters 'disappearing' as babies.

Dr Koch' But of course, what it also did, when the two girls went away we didn’t know, our son was what? Four, about four. What we didn’t appreciate at that time was the effect it had on him, the sibling. And you know, it’s still to this day not understood how siblings get affected. Only because I gave a talk in front of the Royal, the Royal College of Physicians at Regents, Regents Square, Regents Park whatever it was, I raised the issue. It was raised and there was no, no knowledge of this. No, no writing in any journals at all.

 

And what happened was, and we didn’t know this until my son was about 18 years of age. 18 was it, 18, 19? Something like that. When he was at university 18, 19, when he was four, he saw or just before he saw, he saw one baby disappear, then he saw another baby disappear and he never realised… and of course we cosseted him even more so now, I mean, you know, we gave him more love than probably it’s possible to think about. Because he was still there. And this had an adverse effect on him, not the effect that we thought it was having. Because he, in his mind, thought well when when’s my turn, when am I going and never coming back. A thought that we never actually gave any credence to, never thought about it. And it was only when we realised, when he came home here, and he was sleeping here when he was in his late teens, his very late teens, and he wasn’t sleeping. And we real… you know, we started to probe into this and he wouldn’t sleep, he wouldn’t go to sleep. He was frightened if he slept he wouldn’t come back. He would disappear or so on. And it took a long time to get that… I’m not even sure if it’s totally gone today, but at least it’s out in the open which is psychologically a much better position.

 

So the siblings have to be treated very, very carefully. If you’re bathed in sorrow and all the rest of it, yes you are. You’ve got to give some thought, especially young ones, when their minds and their brains are being developed at that stage. Very, very dangerous for them.

 

Mrs Koch' He also said he remembers me crying. I said “but I didn’t cry until you went to school”. “You cried before I went to school”, you know, taking him to school. Because there was a five year period when I lost the two children, my brother died, he was 38, I was very fond of him and my mother died. And in that five years it hit me and the two children. And  you get over it. We’ve got two lovely boys now. 

Dr Koch explains why there is more stigma attached to female Tay Sachs carriers than male.

You said there’s a stigma for girls, for the parents, for the mothers of girls?

 

Yes. Well the mothers believe it’s a stigma. You see when a girl wants to get married and she now knows she’s got, she’s a carrier, the mother feels this is going to be a liability towards the child, the girl finding a suitable partner, because people think, oh what a terrible thing, what’s this thing? They don’t know about it. She’s got this you see. Well she hasn’t got anything. She’s a carrier. I mean if you listed the carriers that you probably are, the things you’re carrying, you’d be amazed, absolutely shattered, in fact I think you’d be distraught. But it’s best if you don’t know. But it is a consideration. 

 

But the boys there’s far less stigma. In fact I don’t know if there is a stigma for boys, they just think well if they don’t want it done it’s because of ignorance. Something we try hard but we don’t succeed a 100%. After the stigma about being a girl and you know, it’s a stigma blah blah blah. The next stigma is well there’s no tachs say Tay Sachs in our family, therefore it doesn’t affect us. Well there was no Tay Sachs in my wife and I’s family that we ever knew of and that… After we found out and after we got the test we tested one side of the family and there were carriers galore. So I mean it was there but everybody had been lucky and been of the four, that was either one of the two carriers and one not anything and no Tay Sachs, no Tay Sachs was evident. But that’s another one we have to fight hard against. ‘There’s no Tay Sachs in our family, therefore we don’t have to worry about it.’

 

And another of them is well we’re not Ashkenazi we’re Sephardic, that’s another sect. Therefore there’s no problem. Well Sephardic instead of being one in twenty potential carriers in the Ashkenazi group, the Sephardic are approximately one in ninety to one in a hundred. So they’re not zero. In fact everybody, all else, everybody in the world, by analysis and I don’t know how anybody ever did this. I certainly didn’t do this work. And I don’t know how they got the answers. It’s estimated at one in 250 is a carrier of any religious race or whatever. One in 250. That means if two come together it’s going to be one in 60,000 or something. A huge figure I believe. It’s a massive figure anyway. So, that’s what it is 250 squared plus about, plus another 250 or something I forget the mathematics of it now. It’s a huge figure. 

 

But there are, there are other sects in the world that are carriers. As I said there’s the French Canadians in Quebec at 36%. There’s the people in Louisana, they are about 10%, and there are bits and pieces all over the place of other people. So it’s, it’s widespread. But still rare.

 

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

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 orthodox and they take their own view and they’re entitled to do what they want. But the majority listen to what we say. And we will screen the next couple of weeks after giving a talk to the school. In the next two weeks we’ll have a, a session at the school’s request and at their particular leisure as it were. The right time, at break times and so on. We take all the equipment down, we’ll screen the kids and we’ve had up to 80 children come in and be screened. And of those approximately 20% will be carriers. Whether they’re boys or girls we don’t tell them. All the tests go to [hospital name] who are experts. They’re about the only ones that are left experts and they write to them and their GP and it is totally confidential. We don’t know who they are. We could find out. But we don’t. We’re not, we don’t need to know that.

Dr Koch's baby had the startle effect and couldn't coordinate movements.

And we knew something was wrong definitely wrong, because she couldn’t keep her head up and she couldn’t coordinate movements. She had the symptoms of spasticity. She had the startled effect as it’s called, which we didn’t know what it was at the time. That is abnormal response to sound. If you just clap about that sound level behind the child’s head who’s looking away from you, she would – I can’t do it because my wife’s sitting too close, but she’d throw her arms out and she would exhibit a facial contortion that looked like she was in severe pain, and actually she’s not, it’s just a reflex. That’s called the startled effect. And there were general other symptoms of loss of ability to do it, or want to do anything which was very disturbing.

Dr Koch thinks information is crucial for Tay Sachs carriers.

If the blood is tested and they find out they are a carrier when they’re pregnant, do they then test the father?

 

Oh absolutely. Now we go into full scale thing, it goes into full scale operation. Whereas it might take four weeks for them to get an answer it’s now done in four days. Obviously there’s an urgency here. We don’t know, nobody knows at this stage if both parents are carriers. So we do the mother, and we do the mother, the full works, we give her the biological testing, and we give her the DNA. We do the father the same way. And then the results are looked at within four or five days, and if there is, if they are both carriers, now it depends on the semester she’s in, whether she’s passed eleven weeks or not. You can’t do the test before eleven weeks. It still isn’t certain that the foetus, at this stage it will be an embryo probably. The embryo is a Tay Sachs embryo because it could be one of the … We’re not going to be worried at that stage about carriers obviously. Only the full bloodied Tay Sachs disease. Then she’s asked, whether she wants counselling. It’s highly suggested. And she’ll either come here or may be somewhere else, but usually it’s so few nowadays they come here. And we will tell then, now what you’ve got to do now is etc… Do you want me to describe it. I will. “It’s your decision, but we’d like you to have an in vitro test at eleven weeks, if you want it at eleven weeks, or sixteen weeks.” Eleven weeks it’s a CVS is a chorionic villus sampling. At sixteen weeks you can’t do it before this it’s an amniocentesis. Of the two the amniocentesis is preferred, because that’s the least invasive type of requirement. A CVS is invasive. It’s obviously done through the vulva, it’s down in, that sample is scraped? from where the actual embryonic tissue is on the wall of the uterus to get the chorion and all the rest of it, and there is a higher risk of causing a termination that way. It’s about 1% but it’s a risk.

 

The amniocentesis, and we always tell them information, if you’re going to have an amniocentesis you sit and watch the screen. Make sure the person doing it is a consultant or at least a registrar who’s doing it. Watch the screen, and watch what he does, because if he puts the needle into the foetus that’s not a very good idea. And they are more aware of doing it carefully if somebody’s watching it, and has got a little bit of knowledge. Do you understand what I’m saying? So and that cuts the risk down of a termination occurring naturally, down to 0.00%. It’s very, very low. Now if it’s all clear, it’s all clear. 

 

Unfortunately if it isn’t then the patient has a choice. They can go the full hog and have a Tay Sachs child if they are religious or they have a moral view that it’s not the right thing to do and will take the risk. It’s their decision. No one will force them to do anything. Their choice.

 

But once they make the choice, the choice is made. And if they have the child we now tell them what the situation’s going to be. And how pretty rough it’s going... because they don’t really know what it’s about and it is… I even show them a film. I made my own films to highlight this particular thing. 

 

And they’re on their own, because there is no NHS facility for dealing with it, this is terrible, there was never in our day. We only allow the consultants …we only allow the child to be taken to a hospital area, because the consultant said if we do they’ll want to study the situation and since there was no, no harm being done to the child at all, in fact the other way round, we allow that and we were look after that point of view. Because otherwise it’s just an issue that you just can’t contain.

The nursing when it gets towards the second plus year is three shifts a day full time. The child goes into convulsions. It can’t swallow. It can’t breathe. It, it’s a terrible situation and untrained… even for a highly trained nurse it’s quite, quite demanding, for an untrained person, like a mother whose looking at it from a different angle it’s impossible, it really is, and there’s no facility. Not at all. You’re supposed to do that yourself in your home. How you’re supposed to do that, I don’t know. But we tell the patients that that is what is going to happen. And it’s still their decision.

Now if they decide they don’t want that under any circumstances, which from my point of view, from point of view is the proper procedure then they go straight away and have a termination. And there we go, you can try again. You can repeat the whole process. Now we can test the foetus for a Tay Sachs potential. You can do it umpteen times. A termination is not a commonly big thing, and most people, in fact all the people that I know have done it, gone for that procedure. And in the end, if not the second time they have a healthy child, and away they go. They’re happy.