Latest / Tom's Hirschsprung's Podcast / Episode 97 - With Donna Broughton

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Episode 97 - With Donna Broughton · Tom's Hirschsprung's Podcast

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Speaker 1: You are listening to Tom's Hirshbrung's Podcast, a space where
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Speaker 1: we talk openly about living with Hirshprung's disease. Whether you
0:09
Speaker 1: live with it, care for someone who has it, or
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Speaker 1: just want to understand more, this podcast is for you.
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Speaker 1: Each episode, we will explore real stories and honest conversations
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Speaker 1: about a condition that often goes unheard. Thank you for
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Speaker 1: tuning in. Hello, and welcome to episode ninety seven of
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Speaker 1: Tom's Hirshbrungs Podcast. I am delighted to welcome Donna brought
0:53
Speaker 1: in to the show. Welcome Donna.
0:56
Speaker 2: Hello.
0:59
Speaker 1: We are going to chat about something a little bit
1:02
Speaker 1: different when it comes to hirshbrung So this is necessarily
1:07
Speaker 1: one of the sort of I would saying normal stories,
1:11
Speaker 1: not normal story. But but we're going to chat about
1:15
Speaker 1: a lot about genetics, which I'm as people who've listened
1:19
Speaker 1: to this show for a while know that I'm fascinated
1:22
Speaker 1: by genetics by you know, how did we all come
1:26
Speaker 1: to have Hirshbrungs. How do we all come to have
1:28
Speaker 1: Hirshbrungs in the family. And we are going to chat
1:32
Speaker 1: a little bit about about genetics. So up to you
1:37
Speaker 1: really where where you'd like to start from.
1:41
Speaker 2: Yeah, So, yeah, I can just start from kind of
1:44
Speaker 2: the beginning of genetics story in relation to hershbrungs. So
1:52
Speaker 2: really it started before me, well, my husband and his family,
2:00
Speaker 2: and he already knew that hirshbungs was kind of passing
2:04
Speaker 2: down in his family, as his grandfather had it, and
2:09
Speaker 2: his eldest brother had it, some cousins had it. It's
2:12
Speaker 2: got quite a his family's kind of hard to figure
2:16
Speaker 2: out sometimes, so we know there's odd people within the
2:20
Speaker 2: family that do have hirshbuns and they all were being
2:23
Speaker 2: born with the same kind of hirshbungs, which is like
2:27
Speaker 2: the the long stem. Is it long? Yeah, actually, it's
2:34
Speaker 2: a long segment. That's the word I just thinking was
2:36
Speaker 2: ellis and the long segment type of first bruns. So
2:41
Speaker 2: and from way back when, like when his brother was
2:44
Speaker 2: born many many years ago, it was very different to
2:47
Speaker 2: when my husband's and eldest son who he had with
2:51
Speaker 2: his previous partner was born. Things had moved on massively,
2:53
Speaker 2: but still it was identified at birth and had to
2:57
Speaker 2: have a pull through operation at the time birth and
3:00
Speaker 2: that kind of thing, so it was very much the
3:04
Speaker 2: same the same for each person in the family, which
3:09
Speaker 2: suggests obviously that it's genetic. And I think, like I've
3:13
Speaker 2: said before, we know it's not for everybody, not genetic
3:17
Speaker 2: for everybody. Some people have no idea what causes it.
3:20
Speaker 2: That it was very obvious within his family that it
3:25
Speaker 2: was genetic, and so we knew that my husband obviously
3:29
Speaker 2: had the gene mutation, but he doesn't have hershbuns. But
3:35
Speaker 2: then his son did, and so it was coming down
3:37
Speaker 2: his father's line as well. We knew that from his
3:40
Speaker 2: grandfather and that kind of thing. So when we were
3:47
Speaker 2: kind of ready to have a child together, it was
3:51
Speaker 2: something that we thought about and whether it's something that
3:57
Speaker 2: we could, I'd say avoid, but if we were going
4:03
Speaker 2: to Habita, we wanted to give them the best kind
4:05
Speaker 2: of chance of not having hirshbums if we could help it,
4:08
Speaker 2: because it's it's very obvious it was passing down, and
4:11
Speaker 2: also there was a part of us that really wanted
4:14
Speaker 2: to kind of try and stop it being passed down
4:16
Speaker 2: if we could within within our family line. And so
4:20
Speaker 2: we went to see a geneticist quite quite early on,
4:24
Speaker 2: really before we even really said we're ready to have
4:27
Speaker 2: a baby. It was kind of in the back of
4:28
Speaker 2: our man that actually, let's start to investigate this now
4:32
Speaker 2: so that when we are it's there. So we started.
4:36
Speaker 2: It was quite a long process really, but we went
4:39
Speaker 2: to see a geneticist and they said, yeah, it's very obvious.
4:43
Speaker 2: It's in your family. We can trap is across a
4:46
Speaker 2: family tree, and they said, we don't know really which
4:52
Speaker 2: gene it's in. What's the most then kind of had
4:57
Speaker 2: an idea of a common gene that it would be in,
5:00
Speaker 2: but I think with Herschbongs, they don't necessarily know what
5:06
Speaker 2: it where. That mutation is necessarily and it can be
5:10
Speaker 2: different for different people. But they said that they would
5:14
Speaker 2: be willing to have a look for us because it
5:16
Speaker 2: was so prominent across the family, testing the family and
5:19
Speaker 2: seeing if it was in that most common gene, which
5:21
Speaker 2: is the REC gene, and then go from there. Really,
5:26
Speaker 2: so they did. They invested a bit of money into that,
5:28
Speaker 2: which was really good, and they took family members and
5:31
Speaker 2: tested their blood and and then they came back to
5:35
Speaker 2: us and said, yeap, we've found it. The mutation is
5:37
Speaker 2: in that rec gene, which then meant that it gave
5:44
Speaker 2: us options. Then going forward, they were able to give
5:46
Speaker 2: us options. But one of the things that I suppose
5:52
Speaker 2: i'd heard about something that actually instigated all this. I
5:56
Speaker 2: worked with somebody who's whose son and daughter in law.
6:02
Speaker 2: One of them had a condition that was genetic and
6:05
Speaker 2: they were going through a process to have a baby
6:07
Speaker 2: that at the time was called pg D And I
6:11
Speaker 2: should find out what that stands for, actually, because I've
6:15
Speaker 2: forgotten already. But so that was pre implantation genetic testing,
6:25
Speaker 2: so it's kind of like IVF, but they test the
6:29
Speaker 2: embryos for the gene before they put them back in.
6:32
Speaker 2: So I'd heard about somebody having this, and so I
6:34
Speaker 2: started to do a little bit of research online and
6:36
Speaker 2: that's kind of when I found out that actually, for buns,
6:39
Speaker 2: there's no real kind of idea of what gene it's in,
6:43
Speaker 2: and it'd be really difficult to do that. So once
6:46
Speaker 2: they were able to confirm the gene, that became an
6:50
Speaker 2: option for us, and they said to us that there's
6:53
Speaker 2: several ways you can have a baby. You can just
6:56
Speaker 2: go ahead and try and just go for it and
6:58
Speaker 2: decide and not worry about it and hope one way
7:03
Speaker 2: or the other. You can get pregnant and then test
7:10
Speaker 2: and do a blood test I think it was they
7:13
Speaker 2: could do from the mother to test if the gene
7:16
Speaker 2: was in the blood, because with me not having the gene,
7:19
Speaker 2: if the baby had it, it would show up and then
7:21
Speaker 2: you could decide from now what you wanted to do.
7:23
Speaker 2: Or there was at the time the PGD and just
7:26
Speaker 2: got a different name now, but it's still basically a
7:29
Speaker 2: very similar thing. So we did decide to go down
7:32
Speaker 2: that route and go on a waiting list for that,
7:35
Speaker 2: which was about a year at the time because they're
7:39
Speaker 2: doing it for lots of other genetic conditions. But what
7:42
Speaker 2: was interesting as well, and what took a lot of
7:44
Speaker 2: the time, is that no one had ever done it
7:46
Speaker 2: before for hershbun so it wasn't even licensed at that time,
7:51
Speaker 2: so we had to wait for the license to go through.
7:53
Speaker 2: So we kind of instigated that getting the license through
7:56
Speaker 2: for that so that people in future can go ahead
8:01
Speaker 2: and have the same treatment if they want to and
8:03
Speaker 2: if it's genetting it and so yeah, that was all
8:07
Speaker 2: licensed and then we were set to go. Really so
8:13
Speaker 2: the only there was a few places that did it
8:16
Speaker 2: that The main place this was on the NHS as
8:18
Speaker 2: well at the time, which was really good, and we
8:21
Speaker 2: were offered the actual PGD treatment through the NHS, because
8:26
Speaker 2: so it's like IBF but different in that IVF is
8:30
Speaker 2: kind of set locally and people who perhaps can't conceive
8:34
Speaker 2: naturally get like one round or what they get set
8:38
Speaker 2: round or depending on the area that they live in.
8:41
Speaker 2: And it's very different at the time that we had it,
8:44
Speaker 2: and I couldn't say what it's like now without researching it.
8:46
Speaker 2: But the time we had it, it was set across
8:49
Speaker 2: the country by NHS England, and it was quite generous
8:53
Speaker 2: in that you could have three rounds because the way
8:55
Speaker 2: that they saw it was that actually by them investing
8:58
Speaker 2: in people habit this genetic testing, it would say the
9:03
Speaker 2: NHS in the future a lot of money because they're
9:06
Speaker 2: not treating people when babies with genetic disorders when they're born.
9:12
Speaker 2: And so we were really fortunate, and it was with
9:16
Speaker 2: Guys sent Thomas in London, but we live in Sheffield
9:22
Speaker 2: and their satellite clinic was in Sheffield, so we were
9:26
Speaker 2: able to do a lot of the treatment in Sheffield
9:29
Speaker 2: and travel to London for some of the main some
9:32
Speaker 2: of the main treatments. So that's kind of like the
9:36
Speaker 2: gist of how we got there. And then Obviously there's
9:41
Speaker 2: the actual, the actual treatment side, which I'm happy to
9:46
Speaker 2: talk about. What what happened there and what it resulted in.
9:51
Speaker 2: That's what you want to know more about.
9:54
Speaker 1: I mean, that's it's a fascinating I mean, that's why
9:58
Speaker 1: I really wanted to chat to you about this, because
10:00
Speaker 1: I talked to people a lot about genetics and about
10:05
Speaker 1: you know, what's passed down and what is and how
10:08
Speaker 1: this will happen and how that will happen. And I
10:11
Speaker 1: do have people who say to me like I want
10:13
Speaker 1: the gene to you know, stop with me, or to
10:16
Speaker 1: stop with my daughter or all my son. And as much
10:21
Speaker 1: as you know, on this show and other podcasts I've done,
10:26
Speaker 1: I highlight, you know, the positives I guess around people
10:31
Speaker 1: who have Hirshbrungs and the careers they have and all
10:33
Speaker 1: of that stuff. Obviously, having Hirshbrungs comes with a whole
10:39
Speaker 1: dose of surgeries medications. So in essence, you know, would
10:46
Speaker 1: you choose to have it? Well, no, like you know,
10:49
Speaker 1: it's it's so if you can stop it, I mean,
10:53
Speaker 1: I guess why wouldn't you?
10:55
Speaker 2: Yeah, And I know, and I think I know for
10:58
Speaker 2: some people it might sit a bit uncomfortably because it
11:01
Speaker 2: is that kind of playing god. And I know some
11:04
Speaker 2: people think that, well for any kind of genetic disorder.
11:08
Speaker 2: I think there's people have in this for genes that
11:12
Speaker 2: cause cancer. If you can recognize that and help your
11:18
Speaker 2: future children and generations, then for me, it was a
11:23
Speaker 2: no brainer. I didn't even give it a second thought.
11:27
Speaker 2: I just went into and thought, if I'm going to
11:29
Speaker 2: have a child, this is how hard to do it.
11:31
Speaker 2: I mean, there was still that. I think it's ninety
11:33
Speaker 2: nine percent accurate, there's still that there was still that chance,
11:38
Speaker 2: but yeah, I mean as well, so we did have
11:43
Speaker 2: a daughter successfully through the process, and just to know
11:48
Speaker 2: that she's not going to have to think about that
11:50
Speaker 2: because we're known for so long. Everybody in the family
11:53
Speaker 2: has always known that it's a chance. Every time they're pregnant,
11:56
Speaker 2: it's a chance. There's a chance there that the baby
11:59
Speaker 2: could be born with it. And I know for myself
12:04
Speaker 2: when I was pregnant, as that one percent chance, but
12:08
Speaker 2: that's minimal to know the Actually, I've done all I
12:11
Speaker 2: can to prevent this, and it just made our pregnancy
12:15
Speaker 2: a lot a lot more enjoyable because we weren't worrying
12:18
Speaker 2: about or when the baby is born, is is it
12:22
Speaker 2: going to have Is it going to have to have
12:23
Speaker 2: surgery when within a matter of days of being born?
12:28
Speaker 2: Is it going to struggle? I know that my husband
12:30
Speaker 2: went for quite a lot with my steps and when
12:33
Speaker 2: he was born and having surgeries and he was in
12:35
Speaker 2: intensive care for a few weeks and all the things
12:40
Speaker 2: there to do at home to try and get him
12:42
Speaker 2: back on track, and ultimately when he was a little
12:46
Speaker 2: bit older, it did end up having a colostomy bag,
12:49
Speaker 2: which he lives perfectly happily with. Now he's it's nearly
12:54
Speaker 2: twenty one and they've said on maybe you'll want to
12:57
Speaker 2: reverse it one day, but he's know, this is his
12:59
Speaker 2: life now. He's really happy how he lives compared to
13:02
Speaker 2: when he was younger and he was suffering a lot.
13:05
Speaker 2: And I said before I saw him suffer quite a
13:09
Speaker 2: bit when he was little and the pain that he
13:11
Speaker 2: went through and being as he got older he ended
13:15
Speaker 2: up in intensive care on occasions. And if you can
13:20
Speaker 2: take that away from in future children and grandchildren, then
13:26
Speaker 2: you do all you can victim to do that. And
13:30
Speaker 2: I just think it's one of those things that some
13:33
Speaker 2: people who are listening or who have had children with
13:36
Speaker 2: hershbuns or who know it's perhaps in their family. It's
13:39
Speaker 2: something they're investigating, whether it is genetic. I know that
13:44
Speaker 2: one of the things they might be thinking is if
13:46
Speaker 2: I have another baby, is this is it going to
13:48
Speaker 2: happen again? Are we're going to have multiple children? And
13:53
Speaker 2: what's the chances? What's the risks? And I just think
13:59
Speaker 2: raising awareness of actually, if it is genetic, but there
14:03
Speaker 2: is an option that there is a way you can
14:05
Speaker 2: have another baby without having to to have that in
14:11
Speaker 2: your mind all the time.
14:12
Speaker 1: Yeah, definitely. And I think as well when I speak
14:16
Speaker 1: to I speak to a lot of parents, and they've
14:21
Speaker 1: had always differing answers to questions. So when some parents
14:29
Speaker 1: have said to doctors, you know that there's hirshprungs in
14:32
Speaker 1: my family, will my child have hirshbrungs, some are told,
14:36
Speaker 1: you know, it's possible, and some are told no. I
14:39
Speaker 1: mean I've had people who have hirshprungs and then they
14:46
Speaker 1: have a child or are pregnant with a child, and
14:49
Speaker 1: the doctors said, oh, well, no, it's a really really
14:52
Speaker 1: small chance it's not going to happen, which I wouldn't necessarily.
14:59
Speaker 1: I've done another doctor. But I'd say that that advice
15:01
Speaker 1: is a little bit worrying because as soon as you
15:04
Speaker 1: say something's not going to happen or it is going
15:06
Speaker 1: to happen, people will take that. They'll take that and
15:11
Speaker 1: take that as truth. So I think kind of, I
15:16
Speaker 1: guess in this situation, knowledge is power, really, isn't it.
15:18
Speaker 2: Yeah, And I think as well, it's not. It's not
15:22
Speaker 2: necessarily about me raising a witness and saying if you
15:30
Speaker 2: want to have another child or or whatever, there's this
15:33
Speaker 2: route you can go down. That's well, essentially it's IVF.
15:37
Speaker 2: It's what I mean. I can go into the details
15:39
Speaker 2: more if you want, but it's more about that people
15:47
Speaker 2: knowing that actually you can go to a geneticist if
15:51
Speaker 2: you think that it's in the family and push for
15:55
Speaker 2: some kind of testing to find out if I mean,
16:00
Speaker 2: like I said, in some cases they don't know what
16:02
Speaker 2: gene the mutations in that causes it, but there is
16:05
Speaker 2: the common gene, which is the red gene, and it's
16:08
Speaker 2: about you can go to geneticis and talk to them
16:12
Speaker 2: about that, because I think a lot of doctors, when
16:16
Speaker 2: you talk about hshbunes, a lot of them don't actually
16:18
Speaker 2: know what it is, or they know very little about it.
16:22
Speaker 2: I know when I was pregnant and I was talking
16:26
Speaker 2: to doctors about it, and because they were asking why
16:29
Speaker 2: I'd gone, why had had IVF and the changes the
16:35
Speaker 2: way that meant that I had to be treated during
16:38
Speaker 2: my pregnancy and different things like that, and I told
16:40
Speaker 2: and I told them why, they were just like, what hirshbunes.
16:45
Speaker 2: So then I had to go into detail about that,
16:46
Speaker 2: and then they were just like, I'm right, well, we'll
16:49
Speaker 2: just make sure there's a baby doctor there when you're
16:50
Speaker 2: born to check the baby to make sure they haven't
16:52
Speaker 2: got hirshbuns. I was like, yeah, but we'll know before
16:54
Speaker 2: the doctor knows, probably because we know what we're looking for,
16:57
Speaker 2: and that doctor's probably never well, never seen a case
17:00
Speaker 2: of it, or it's very rare that they have. So
17:04
Speaker 2: I think a lot of it is doctors might say that.
17:07
Speaker 2: And I know that my husband when he first went
17:10
Speaker 2: to be a geneticist with his previous partner, they were
17:13
Speaker 2: very much like that, and they didn't know as much them.
17:15
Speaker 2: They were like, father, chances of you having the baby
17:17
Speaker 2: very slim of having a baby with it or very slim.
17:22
Speaker 2: What he didn't know is he actually had the genetic
17:24
Speaker 2: mutation and then his son would get it and he
17:27
Speaker 2: would have hershbuns. But yeah, I think it even for
17:33
Speaker 2: people not thinking about having children in the way that
17:36
Speaker 2: we had our daughter. It's just that if they want
17:39
Speaker 2: to know if it's genetic or there's a kind of
17:41
Speaker 2: a an inkling that it is because they're seeing sporadic
17:45
Speaker 2: cases of it within the family, just go into a
17:48
Speaker 2: geneticist and pushing to say, look, we know that it
17:53
Speaker 2: can be genetic, and it's something that's concerning. We want
17:58
Speaker 2: to know.
18:00
Speaker 1: I think you're absolutely right with that, and I think
18:02
Speaker 1: you're right as well. And again, this is not a
18:05
Speaker 1: knock at GPS or doctors or whatever, because I know
18:08
Speaker 1: there are hundreds of thousands of conditions and you can't
18:11
Speaker 1: be an expert in all of you know, I totally
18:14
Speaker 1: understand that, and I know that in terms of Hirshbrungs,
18:17
Speaker 1: having spoken to doctors and nurses, you do you know,
18:22
Speaker 1: if you're lucky, you might do one one seminar where
18:25
Speaker 1: they might say, oh, and there's this thing called Hirshbrungs.
18:28
Speaker 1: This is what you know. Are you going to remember
18:30
Speaker 1: that out of seven years of training probably not. So
18:35
Speaker 1: it's it is. It is a tricky one because lots
18:40
Speaker 1: of GPS won't just won't know what it is, you know,
18:43
Speaker 1: and will. I have seen GPS as well when I've
18:48
Speaker 1: been there and I say I've got hirshbrungs, and then
18:50
Speaker 1: you can see them quickly googling the word first sprugs,
18:54
Speaker 1: and then and they go, ah, yes, yes, it's blah
18:57
Speaker 1: blah blah. It's like you've just googled that.
18:59
Speaker 2: You I don't want that, how to deal with it
19:04
Speaker 2: or what what implications that has on anything else.
19:08
Speaker 1: I just yeah, I saw you typing in the word
19:10
Speaker 1: heard for don't kid me that you know what what
19:13
Speaker 1: it is.
19:13
Speaker 2: You've all had to correct the spelling for you as.
19:15
Speaker 1: Well, at the exactly exactly I mind you probably nowadays
19:19
Speaker 1: if we chat GPT, I mean, god knows what you'll
19:21
Speaker 1: end up with there. But yeah, and it's so, it's
19:25
Speaker 1: not and it will never be a commonly known condition,
19:31
Speaker 1: you know, just just because of the rarity that it
19:33
Speaker 1: that it has. But yeah, it's it's And I guess
19:40
Speaker 1: I have spoken to quite a few people who are
19:45
Speaker 1: constantly thinking about genetics and do want to know more,
19:47
Speaker 1: which is why I really wanted to chat to you
19:49
Speaker 1: because I thought, actually, the more people are aware of again,
19:55
Speaker 1: like you said, the options that are out there, because
19:57
Speaker 1: I'm not sure that I don't know, but I'm not
20:03
Speaker 1: sure that everybody may be aware of all of the options.
20:07
Speaker 1: And if they if they if they don't want that
20:10
Speaker 1: particular option, then that's absolutely fine. We're not saying I
20:12
Speaker 1: have to say, wish you had to say that people
20:16
Speaker 1: do do whatever they want. But I think it's one
20:20
Speaker 1: of those things where giving people the choices is the
20:29
Speaker 1: best way to say, right, there's this, this and this,
20:32
Speaker 1: and you can choose, you know, whichever part you want
20:35
Speaker 1: to go down, rather than saying this is the only
20:37
Speaker 1: way of doing things.
20:40
Speaker 2: Yeah, no, exactly. And I think I just know if
20:44
Speaker 2: i'm speaking to people that it's just a consent when
20:48
Speaker 2: they've had a child with it. I know, and I
20:52
Speaker 2: know a friend, a friend of mine, she was worried
20:56
Speaker 2: then about having another baby because she was like, I'm
20:59
Speaker 2: so edge to do it again because I just don't
21:04
Speaker 2: know if they're gonna if the davy's going to have it,
21:07
Speaker 2: and I don't know if it's genetic or not genetic.
21:10
Speaker 2: And even though there's no other cases in the family.
21:14
Speaker 2: We don't know everybody in the family, and it's just yeah,
21:19
Speaker 2: there's a lot to it. But yeah, like you say,
21:23
Speaker 2: it's just that it is an option. It is an
21:27
Speaker 2: option to find out and especially I know, like I say,
21:32
Speaker 2: a lot we'll say, oh, well, we don't know which
21:35
Speaker 2: gene causes it. But they said to us, there's a
21:39
Speaker 2: common gene, which is where we'll try first, and if
21:42
Speaker 2: it's not in acting them, we'll have to think about
21:43
Speaker 2: what we're do next. But we were very fortunate that
21:45
Speaker 2: they tried the common gene, which is the reped gene,
21:49
Speaker 2: and that mutation was in there. And yeah, so we
21:54
Speaker 2: were we were able to then move on to the
21:56
Speaker 2: next stage. But also what it did as a separate
21:59
Speaker 2: aside from that, in that bit before we even moved
22:01
Speaker 2: on to having a baby and and all that side
22:06
Speaker 2: of things, was that it meant that because we'd gone
22:08
Speaker 2: to the geneticist and set that ball rolling to find
22:13
Speaker 2: which gene it's in within our family history, so to speak,
22:18
Speaker 2: that then it opens so much more for our family
22:21
Speaker 2: because so like my steps he's got a younger brother
22:29
Speaker 2: who hasn't got hershbuns. He can now go and ask
22:32
Speaker 2: to be tested to check whether he's got the gene,
22:35
Speaker 2: so that when he's ready for children, he can make
22:39
Speaker 2: the right decision for him and his partner. At the time,
22:42
Speaker 2: I've got nieces and nephews, a brother in law who
22:45
Speaker 2: doesn't know if they have the gene or not. They've
22:48
Speaker 2: just not got hershbungs. But like my husband, they could
22:51
Speaker 2: have the gene. They they can go to the geneticist
22:54
Speaker 2: that we saw now and say test me, and they
22:56
Speaker 2: can look in that gene and go, yeah, you've got
22:58
Speaker 2: it all may and again, it's just like a way lifted,
23:02
Speaker 2: isn't it for them as a family to know? And
23:05
Speaker 2: when I'm ready to have children, it's not something I
23:08
Speaker 2: have to consider or well I'm armed with Obviously, it's
23:12
Speaker 2: up to them, like anybody, whether you get tested for
23:15
Speaker 2: any genetic and mutation. But if they want to be
23:19
Speaker 2: armed with that information, they can go and find that
23:21
Speaker 2: out now and decide what they want to do with
23:24
Speaker 2: that information when they're older all the time comes for
23:27
Speaker 2: them to have children or anything like that. So there's
23:33
Speaker 2: that side of it, what it's done for the family,
23:34
Speaker 2: and then there's obviously the help that it gave us.
23:37
Speaker 2: Then to have a child that didn't have the gene.
23:42
Speaker 1: Yeah, and I love the fact as well that and
23:45
Speaker 1: you said we touched on earlier about how you need
23:49
Speaker 1: to get a license for it, and just say that
23:52
Speaker 1: presumably would have meant you the first people who looked
23:55
Speaker 1: at this for.
23:56
Speaker 2: As far as I know, unless somebody was doing it
24:00
Speaker 2: for the same disorder at the same time in parallel,
24:05
Speaker 2: and it just so happened that it got and and
24:09
Speaker 2: I was part of a lot of groups at the time.
24:12
Speaker 2: I had Facebook groups for guys and sent ton as
24:15
Speaker 2: PGD and other PGD groups as you do to find
24:19
Speaker 2: people who are going through the same thing as you
24:21
Speaker 2: and going through the same treatment. And I didn't come
24:24
Speaker 2: across anybody that was going through it that was having
24:28
Speaker 2: the PGD treatment for hirshbruns. So it leads me to
24:34
Speaker 2: believe we're potentially the first couple in the UK to
24:40
Speaker 2: go down that route for Hirshbum's disease. But I'd love
24:43
Speaker 2: to hear from anyone else that has done the same.
24:45
Speaker 2: It would be really interesting.
24:47
Speaker 1: Yeah, I mean, there's there's always a lot of that.
24:50
Speaker 1: There's yeah, quite a few sort of Facebook groups. That's
24:53
Speaker 1: sort of the main UK one, and then there's lots that're
24:55
Speaker 1: sort of around the world. Yeah, And I mean I
25:00
Speaker 1: don't tend to look at them too often because they're
25:02
Speaker 1: just they're just a full of information, although full of
25:07
Speaker 1: questions that I can't answer, and and it's really difficult
25:10
Speaker 1: to kind of sift through things, and you know, so
25:16
Speaker 1: I don't maybe take a if I get a notification
25:19
Speaker 1: about it, I'll quickly glance at it, but generally I
25:22
Speaker 1: tend to leave them alone because they're just they're just
25:25
Speaker 1: full of it, full of full of questions that I
25:28
Speaker 1: just can't answer. But there is quite a lot of
25:33
Speaker 1: discussion I do see on there about genetics and about
25:37
Speaker 1: you know, does anybody know this? And does anybody know that?
25:41
Speaker 1: And I think it's it's it's I mean, of course,
25:45
Speaker 1: some people don't want to know, you know, just in
25:48
Speaker 1: the case just in the same way that some people
25:49
Speaker 1: don't want to know whether they're having a boy.
25:51
Speaker 2: Or a girl.
25:52
Speaker 1: Yeah, and then that sort of But but I think
25:55
Speaker 1: some people do and and that is is absolutely fine.
25:59
Speaker 1: And I think think I probably will stress this is wed.
26:02
Speaker 1: I may have said it before, but this seems to
26:05
Speaker 1: me as very much an individual thing, like as in
26:11
Speaker 1: you know, everybody very much free to make their own choice.
26:16
Speaker 1: A lot saying you've got to do this, or you've
26:17
Speaker 1: got to do that or whatever. In the same way
26:20
Speaker 1: that I speak to people who they have a Hershbrong's
26:24
Speaker 1: child and they say, we don't want any more children.
26:27
Speaker 1: But then I've spoken to people who've had a Hirschprongs
26:29
Speaker 1: child and then have gone on to have more children
26:31
Speaker 1: because they want to have more children. So I think,
26:34
Speaker 1: you know, all of this is very individual. Would you agree?
26:38
Speaker 2: Definitely one hundred percent. And like, like I think I
26:43
Speaker 2: said previously, I know this kind of treatment itself can
26:48
Speaker 2: be quite contentious because essentially you're selecting which embryo goes
26:56
Speaker 2: back into into not to the point where I mean,
27:00
Speaker 2: there's a lot of rules around it. So I'm not
27:02
Speaker 2: saying I specifically said I wanted a girl embryo putting
27:06
Speaker 2: back in. But so in terms of how the treatment worked,
27:11
Speaker 2: once they knew which genie which where the genetic mutation is,
27:18
Speaker 2: they were then able to build some kind of test,
27:21
Speaker 2: which meant that when they went through the IVF process
27:27
Speaker 2: of taking the eggs and they're putting together the sperm
27:33
Speaker 2: and creating the embryo, they were then able to take
27:36
Speaker 2: a biopsy from each embryo that they'd created, freeze those
27:40
Speaker 2: embryos so that they were like on ice, so to speak.
27:45
Speaker 2: And then once they've got the biopsid, they used the
27:47
Speaker 2: test that they built to test each embryo for the
27:50
Speaker 2: genetic mutation. So then they were able to say to
27:55
Speaker 2: us White, you've got this money that don't have the
27:58
Speaker 2: genetic mutation, this much that do. And I mean, I
28:01
Speaker 2: think that's where it can sometimes be a bit contentious
28:04
Speaker 2: anyway IVF can be, I suppose in general, because it's
28:07
Speaker 2: a bit then like, oh, so they're not, So you've
28:11
Speaker 2: just dismissed a group of embryos that had the genetic mutation.
28:16
Speaker 2: But for me, it was just about I suppose. I
28:24
Speaker 2: suppose it depends how you look at IVF in general,
28:26
Speaker 2: because with any any IVF treatment, there's a group of embryos,
28:31
Speaker 2: isn't there potentially that that don't get used, depending how
28:37
Speaker 2: many children you want and how successful you are. So, yeah,
28:42
Speaker 2: we were. It took a couple of rounds, but we
28:44
Speaker 2: were quite fortunate to get quite a lot in one
28:47
Speaker 2: of our rounds that didn't have the genetic mutation. And
28:51
Speaker 2: then they were able to put one of those and
28:54
Speaker 2: back in, which is our daughter, which we were very
28:56
Speaker 2: fortunately and it was, like I say, it took the
29:04
Speaker 2: pressure off of the pregnancy a bit. I felt like
29:06
Speaker 2: I could enjoy the pregnancy. Okay, in the back of
29:08
Speaker 2: my mind that was a bit like therather one percent
29:12
Speaker 2: chance that they got they didn't find the right gene
29:15
Speaker 2: or or whatever. What kind of What did give me
29:19
Speaker 2: a bit of comfort in that is that they did
29:22
Speaker 2: find in a group of the embrys they did find
29:26
Speaker 2: the genetic mutation in some of the embryos, So that
29:29
Speaker 2: kind of to me said, yeah, the test is working.
29:32
Speaker 2: And also it gave me comfort that had probably done
29:35
Speaker 2: the right thing because evidently we could quite easily have
29:40
Speaker 2: created a baby that did have the genetic mutation. Like so,
29:45
Speaker 2: I don't have no idea, nobody really can tell us
29:49
Speaker 2: what the chances are of them then developing her songs.
29:53
Speaker 2: But yeah, it did take that pressure off. And then
29:56
Speaker 2: but when she was born, there was a little bit
29:58
Speaker 2: of me that was waiting that first pool as well.
30:01
Speaker 1: So yeah, yeah, so I think any any anybody involved
30:07
Speaker 1: in Hirshbrugs knows exactly what you mean by that, because
30:10
Speaker 1: it's it's one of those where I don't know. We
30:12
Speaker 1: talked a little bit about off air about it about
30:15
Speaker 1: a relative of yours and when when when we talk about,
30:21
Speaker 1: you know, has the baby pood and yeah, to ninety
30:28
Speaker 1: parents that you know that that will just happen, you know,
30:31
Speaker 1: it just probably over ninety nine percent, Yeah, that would
30:35
Speaker 1: just happen and you don't need to think about it.
30:37
Speaker 1: But as parents with hirshprungs in the family, you know,
30:44
Speaker 1: you know exactly what what that's like.
30:47
Speaker 2: Yeah, I think I text my because my husband gone
30:51
Speaker 2: home when I eventually, like when i'd had him, I
30:53
Speaker 2: was like, go ahead and get some sleep. And I
30:55
Speaker 2: was just in the hospital with her. I remember texting
30:57
Speaker 2: him and being like, she's done the poo just on
31:00
Speaker 2: the first bio.
31:01
Speaker 1: We're all right.
31:04
Speaker 2: See, to anybody else that message would just be.
31:07
Speaker 1: It would be it would be really really odd. That
31:09
Speaker 1: just wouldn't like they wouldn't quite get it. But but
31:13
Speaker 1: Hirshbrun's parents, they they they understand, you know that they
31:18
Speaker 1: understand just how how important that is. And they passed
31:23
Speaker 1: the macodium and all of this.
31:25
Speaker 2: That the other.
31:27
Speaker 1: And the other point I only made a little bit
31:31
Speaker 1: while ago with the genestics testing, is that that specific
31:37
Speaker 1: that the testing for hirschbrong is NHS funded, which I
31:39
Speaker 1: thought is fantastic.
31:43
Speaker 2: Yeah, so it's not specifically for Hirshbrungs, but so the
31:48
Speaker 2: actual genetics side it and finding the gene that that
31:52
Speaker 2: was NHS funded for us because we went and spoke
31:55
Speaker 2: to our geneticist on the NHS and got to referral
31:59
Speaker 2: through GP and said we want to talk to a
32:02
Speaker 2: geneticist about this. We explained, we explained the family tree,
32:05
Speaker 2: We explained that we were trying to plan.
32:08
Speaker 3: For our future and our future family, and they looked
32:13
Speaker 3: at they looked at the family tree and said, well, yeah,
32:16
Speaker 3: it's very everydy, but that it is in you, is
32:20
Speaker 3: in your family.
32:21
Speaker 2: So we were very fortunate that at that time they said, yeah,
32:24
Speaker 2: we're going to try and find which gene it's in,
32:27
Speaker 2: and we've got like my partner's dad to come come in.
32:31
Speaker 2: They took blood from him and my steps on and
32:33
Speaker 2: then his my part my husband partner, his mom because
32:38
Speaker 2: she didn't have the genes, so they had that to
32:39
Speaker 2: test and they took loads of blood and was able
32:41
Speaker 2: to test it all and compare it and they were
32:45
Speaker 2: able to say then, yeah, we definitely found which gene
32:48
Speaker 2: it's in. It's consistent because his dad didn't have hers
32:51
Speaker 2: born but the same as my husband obviously had the
32:55
Speaker 2: gene because his eldest son had my husband's brother. So yeah,
33:01
Speaker 2: so that we were very fortunate that they developed all
33:04
Speaker 2: that on. They did all that on the NHS. But
33:06
Speaker 2: I think in general, if you can talk to geneticist
33:09
Speaker 2: about testing on the NHS anyway, but yeah, the pg
33:16
Speaker 2: D side of it for any genetic if you were
33:20
Speaker 2: having the IVF with PGD for a genetic reason at
33:28
Speaker 2: the time that was on the NHS for the three
33:32
Speaker 2: rounds was just set by NHS England at the time
33:37
Speaker 2: for anybody who who had a gene genetic I mean
33:41
Speaker 2: there were like like IVF is, there were certain conditions
33:45
Speaker 2: like it had to be your first I think at
33:50
Speaker 2: the time it was your first child together that didn't
33:56
Speaker 2: have the genetic conditions, So if you had a child
33:59
Speaker 2: with the genetic condition already together, you could go on
34:02
Speaker 2: to have that to make sure your second child didn't
34:05
Speaker 2: have it, or it was just your first child in
34:09
Speaker 2: general together. And so yeah, I don't know what it
34:12
Speaker 2: I don't know what the rules are now because so
34:15
Speaker 2: I'm talking about we first went into this and kind
34:17
Speaker 2: of the genetic exploration in around twenty fourteen, and we
34:23
Speaker 2: went through the process of the PGD in like twenty
34:26
Speaker 2: eighteen twenty nineteen, and then my daughter was born in
34:29
Speaker 2: twenty twenty, so it's changed a little bit. So I'm
34:33
Speaker 2: not sure on the funding. I think some of it
34:34
Speaker 2: is still called on the chest, but it's changed name
34:37
Speaker 2: now to PGT N from PGD, which is it is
34:40
Speaker 2: the same. It's the same process. They just called it
34:44
Speaker 2: a different called it a different name. So but definitely
34:50
Speaker 2: I'd say to people who were interested in it, see
34:53
Speaker 2: their gp about that, referral to a geneticist and bring
34:57
Speaker 2: that up with the geneticist. And it was the genetics
35:00
Speaker 2: that then referred us to guys and sent Thomas in
35:03
Speaker 2: London and said, there's this couple who would like to
35:05
Speaker 2: go down this PGD route with identified where the genie
35:10
Speaker 2: is blah blah blah, and then we got We then
35:12
Speaker 2: went into that separate waiting list and then building the
35:17
Speaker 2: test and well they had to license huge bums first
35:20
Speaker 2: as something that you could have IVF for, and then
35:24
Speaker 2: building the tests and all that but yeah, we just
35:27
Speaker 2: started with IGP and got referred to the geneticist and
35:30
Speaker 2: then asked them to refer as in for PGD And
35:34
Speaker 2: it was a long journey and I'm sure it's probably
35:37
Speaker 2: longer now as people have got more and more aware
35:40
Speaker 2: of it. For I'd love to know if anyone else
35:43
Speaker 2: has ever had it for hershbuns, but for other conditions,
35:48
Speaker 2: people are becoming more and more aware of it, so
35:50
Speaker 2: I know that it's quite popular as the right word
35:54
Speaker 2: probably come more aware. Yeah, people are accessing the service
35:59
Speaker 2: a lot, a lot more frequently and probably the right
36:02
Speaker 2: way to say it. Yeah, But yeah, it's just for me.
36:08
Speaker 2: It's just it's one of the best things I did,
36:13
Speaker 2: really because as hard work as IVF is, had my
36:19
Speaker 2: ups and downs, but the outcome is that I've got
36:22
Speaker 2: a daughter who doesn't have Hershbun's disease and won't have
36:25
Speaker 2: to worry now about passing that that down to any
36:29
Speaker 2: future children she has.
36:32
Speaker 1: Yeah, definitely, And I can't claim to be anywhere near
36:37
Speaker 1: an expert in this. I have very little understanding of
36:41
Speaker 1: how of how any of how any of this works.
36:44
Speaker 1: Hence why I really wanted to chat to you, because
36:46
Speaker 1: I just I wanted. I guess, like a lot of
36:48
Speaker 1: people who listened to this podcast, they just want to
36:50
Speaker 1: know more and know, you know, what options are out
36:54
Speaker 1: there and and and how and how all of this works.
36:59
Speaker 1: And in turn of time, I know you gave some
37:02
Speaker 1: years there, but in terms of time from sort of
37:05
Speaker 1: start process to end the process, how long did it
37:09
Speaker 1: all sort of take.
37:11
Speaker 2: Yeah, So we first went to see IGP for the
37:14
Speaker 2: referral to the geneticist in twenty fourteen, and I think
37:20
Speaker 2: we were kind of we were a couple of years
37:24
Speaker 2: for sure, going through that kind of seeing the geneticis,
37:27
Speaker 2: trying to figure out the gene going back to seeing
37:31
Speaker 2: the geneticis talking about our options. There were a couple
37:34
Speaker 2: of years doing that, and then we got referred into
37:37
Speaker 2: the PGD waiting list, so we didn't actually start. They
37:43
Speaker 2: then took about a year to license it, build the test,
37:48
Speaker 2: have time to see us that kind of thing. So
37:50
Speaker 2: we didn't do our first kind of round of the
37:53
Speaker 2: IVF treatment until twenty eighteen. Then didn't work as well
38:02
Speaker 2: as it it could have done, but at the end
38:06
Speaker 2: of it, we only had one embryo from that round,
38:09
Speaker 2: and then they tested that and unfortunately that embryo did
38:13
Speaker 2: have the genetic mutations. So then in twenty nineteen we
38:20
Speaker 2: went back into another round of it, and we were
38:23
Speaker 2: really successful with that round. We ended up with they
38:26
Speaker 2: did something different with the drugs than me and ended
38:29
Speaker 2: up with loads of eggs, which then obviously could create
38:32
Speaker 2: a lot more embryos, and then we were very fortunate
38:35
Speaker 2: that quite a lot of them didn't have the genetic mutation.
38:39
Speaker 2: And then yeah, so summer of twenty nineteen we went
38:43
Speaker 2: back and had one popped back in, so to speak.
38:47
Speaker 2: And then young my daughter was born in March in
38:49
Speaker 2: twenty twenty. So all in all, from when we first
38:52
Speaker 2: went to see the geneticis we're talking like nearly six
38:55
Speaker 2: years from the very beginning. But I think we were
39:01
Speaker 2: in that exploration stage where we'd heard that PGD existed
39:08
Speaker 2: but it had never been used for hershbungs, and and
39:11
Speaker 2: everyone we saw was a bit like, oh, we don't
39:13
Speaker 2: know how that had worked with hershbungs because we don't
39:16
Speaker 2: know what gene it's in. Oh, let's have a look
39:18
Speaker 2: and see if we can find what genie is. And
39:20
Speaker 2: then as soon as they've found which gene it was in,
39:23
Speaker 2: in our family, it was kind of like, Yeah, all
39:26
Speaker 2: systems go, this is these are your options, this is
39:28
Speaker 2: what you can do. I'd hope that if another family
39:33
Speaker 2: wanted to do the same it would be a smoother
39:35
Speaker 2: journey because we've kind of paved the way for that
39:38
Speaker 2: to happen now, and there's no licensing to wait for
39:42
Speaker 2: anything like that, So it would just be I guess
39:46
Speaker 2: the geneticists trying to make sure they know which Geni's in.
39:51
Speaker 1: Yeah. I was going to say with that one, it
39:53
Speaker 1: may be it's all in all about six years for you,
39:56
Speaker 1: but it might be a little bit quicker because they
39:58
Speaker 1: don't have to go through the licensing pro But on
40:01
Speaker 1: the other hand, now that it may be more popular
40:05
Speaker 1: than maybe more people wanting to do it, so it
40:07
Speaker 1: may safe. So it might be six to one half,
40:10
Speaker 1: doesn't it. I genuinely don't.
40:12
Speaker 2: Yeah, I don't know at the moment. I do know
40:14
Speaker 2: that I spoke earlier about a friend of mine. I
40:18
Speaker 2: know she had a son who had hersbrungs and she
40:21
Speaker 2: went to see a geneticist about that, And I know
40:24
Speaker 2: that within the year of going to first visit the geneticist,
40:27
Speaker 2: she knew it wasn't genetic so it feels like if
40:32
Speaker 2: you get the right the right geneticist who knows about
40:37
Speaker 2: hersh buns, or you get the right referral, it feels
40:40
Speaker 2: like they have a better idea of what to look
40:43
Speaker 2: for to try and decipher whether it's genetic or not.
40:49
Speaker 2: And I think that's probably the key thing. Once you
40:51
Speaker 2: know if it's genetic, and once you you can identify
40:55
Speaker 2: the gene, because that's obviously key to building the test
40:57
Speaker 2: and everything else. Without in the gene, you just can't
41:01
Speaker 2: test the embryos. But I feel like once you've got
41:05
Speaker 2: through that bit and you've made a decision of the
41:08
Speaker 2: road you want to take, it's kind of two separate things,
41:12
Speaker 2: isn't it. There's the genetic side and finding out if
41:14
Speaker 2: it's genetic and how long that takes and knowing what
41:19
Speaker 2: gene it's in if it is genetic, And then there's right,
41:22
Speaker 2: what do we do with that information? And if that
41:24
Speaker 2: is something you want to go down, that's the next route.
41:26
Speaker 2: And how long does getting into that treatment kind of
41:29
Speaker 2: pathway take? These days? I'd hope not as long, because,
41:33
Speaker 2: like I say, it's a license. But then I don't
41:36
Speaker 2: know what the pressure is on the service at the moment,
41:40
Speaker 2: whether there's batlooks from COVID or anything like that. But
41:44
Speaker 2: but yeah, i'd certainly I started thinking about it before
41:47
Speaker 2: even knew if I wanted the baby, to be honest,
41:50
Speaker 2: because it was just one of those things that I thought,
41:53
Speaker 2: do you know what, I want to be armed with
41:54
Speaker 2: the information if I want day do decide that we're
41:57
Speaker 2: going to have a baby together, I want to be
42:01
Speaker 2: able to say, right, we know how I want, we
42:03
Speaker 2: know what pathway we want to go down, or if
42:06
Speaker 2: I never do have a child, well at least the
42:09
Speaker 2: family now know what the gene situation is and it
42:13
Speaker 2: helps them for their future families as well.
42:15
Speaker 1: So yeah, yeah, like we said, knowledge is knowledge is power.
42:20
Speaker 1: But this, this has been a fascinating conversation. So thank
42:24
Speaker 1: you so much for coming on me because this is
42:27
Speaker 1: this is something I don't usually do, but I love
42:30
Speaker 1: doing these sort of see Hirshprung's related, but Hirshprung's Related
42:34
Speaker 1: slightly different episodes. It gives a little bit of a
42:37
Speaker 1: different take. And I've learned an awful lot today just
42:40
Speaker 1: in the forty five minutes we've been chatting together, and
42:44
Speaker 1: I just want to say thank you so much. For
42:46
Speaker 1: coming all because it's been it's yeah, it's been a
42:49
Speaker 1: it's been a real eye opener.
42:51
Speaker 2: H thank you, thank you for letting me talk about it.
42:53
Speaker 2: And like I just want to say, I am no expert.
42:56
Speaker 2: When it comes to you. There might be a medical
42:58
Speaker 2: professional listener has that. Oh, for God's say, that's totally inaccurate.
43:02
Speaker 2: The way you've spoken about that is horrendous. What you've
43:05
Speaker 2: called that is awful. But it's just a personal journey
43:09
Speaker 2: that I went down, and I just like I've said
43:12
Speaker 2: to you, it's just about I just love people to
43:15
Speaker 2: know that it's a possibility and that it exists. And
43:19
Speaker 2: it may be of no interest to some people and
43:22
Speaker 2: maybe totally against what they believe in, but for some
43:26
Speaker 2: people it could be what gives them hoping in then
43:31
Speaker 2: in having another child, or gives them that hope that
43:35
Speaker 2: they can think, actually, I don't have to be afraid
43:38
Speaker 2: of having another baby because I'm worried that another child
43:43
Speaker 2: will have hershebungs or I've got hrshbons and it's something
43:46
Speaker 2: that's always worried me for my future family or something
43:50
Speaker 2: like that. It's just hope. It just gives people a
43:52
Speaker 2: bit of peace of mind. Actually there there are some
43:55
Speaker 2: routes you can take with a bit of knowing the
43:58
Speaker 2: right knowing the right path, and a bit of finding
44:01
Speaker 2: the right the right referrals and the right geneticists. Hopefully
44:07
Speaker 2: it helps some people and give them some answers.
44:10
Speaker 1: Absolutely absolutely, But like I said, thank you so much
44:13
Speaker 1: for doing this because it's been Yeah, it's been a
44:16
Speaker 1: really really interesting, eye opening episode. But yes, thank you
44:20
Speaker 1: so much and obviously wish you all the very best
44:23
Speaker 1: for the for the future. Thank you, Thank you for
44:30
Speaker 1: listening and being part of this growing community. If you
44:33
Speaker 1: have enjoyed the episode, don't forget to subscribe, leave a review,
44:37
Speaker 1: and share it with someone who might need it. You
44:40
Speaker 1: can connect with us on social media via Instagram, Facebook,
44:43
Speaker 1: and TikTok under the name Tom's Hirshprung's Podcast. See you
44:47
Speaker 1: next week
45:00
Speaker 3: To make the Bay