Latest / Tom's Hirschsprung's Podcast / Episode 64 - With Anrie Gibson

Transcript

Episode 64 - With Anrie Gibson · Tom's Hirschsprung's Podcast

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Speaker 1: You are listening to Tom's Hirshprung's Podcast, where I provide
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Speaker 1: a look into the remarkable experiences of the most inspiring
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Speaker 1: people around Hirshprung's disease and sports. Hello and welcome to
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Speaker 1: episode sixty four of Tom's Hirshprungs Podcast. I am delighted
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Speaker 1: to be joined all the way from South Africa by
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Speaker 1: Andre Gibson. Andre, Welcome to the podcast.
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Speaker 2: Thanks, thanks so much, thank you for having me. I'm
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Speaker 2: really excited to be and to share our journey and
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Speaker 2: hopefully this families out there that can relate because I
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Speaker 2: also want to share positive experience as well, so hopefully
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Speaker 2: that will resonate with people.
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Speaker 1: Absolutely, Well, it's all we're about here as well, about
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Speaker 1: sort of yes, we go through sort of ups and downs,
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Speaker 1: but try and keep it we sort of keep it
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Speaker 1: up beat. We don't gloss over the bad stuff as such.
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Speaker 1: But it's it's very much a life of ups and
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Speaker 1: downs as hirshbrungs as. I'm sure you're very aware at
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Speaker 1: this stage. But yes, so if you wouldn't mind, will
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Speaker 1: go sort of straight from the beginning, Yeah, thank you.
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Speaker 2: So I want to highlight we actually do have a
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Speaker 2: daughter who's who's three years old? So she, I mean
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Speaker 2: everything with hers normal healthy, and then about a year
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Speaker 2: and a half later, so we've got a very small
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Speaker 2: age gap. I felt pregnant with our sun, had a
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Speaker 2: normal pregnancy halfy had all my scans, everything was fine,
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Speaker 2: had a cesarean, gave birth. I don't know, but in
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Speaker 2: South Africa, I think it's this is common. They do
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Speaker 2: their ag pass score at birth and they basically rate
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Speaker 2: everything of the baby, and he was at ten. They
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Speaker 2: look at everything, breathing, physically, everything, so his score was ten.
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Speaker 2: I was like, okay, great, immediately breastfeed, he latched, everything
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Speaker 2: went well. I mean, then what was the second time? Mom?
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Speaker 2: I sort of knew what to expect. Yoh, had my
2:40
Speaker 2: baby with me and then send him to the nursery
2:43
Speaker 2: because I was obviously extremely tired, So usually send him
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Speaker 2: to the nursery for a few hours and then they
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Speaker 2: bring him back to me. They told me he did
2:52
Speaker 2: have his first nappy, so all was good. So he
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Speaker 2: did actually pass as the marconium and thereafter had a
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Speaker 2: few stools with me as well. In South Africa, we
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Speaker 2: also it depends on yourself and your guyany we spent
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Speaker 2: about three to four nights in the hospital after cesarean.
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Speaker 2: So I was staying there for three nights, and on
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Speaker 2: the fourth day, when we were about to be discharged,
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Speaker 2: we noticed that Low was not He was interested in feeding,
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Speaker 2: but once you know, he latched, he pulled away, so
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Speaker 2: he was sort of struggling and not taking in any
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Speaker 2: any milk. This was on a Sunday, so our pediatrician,
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Speaker 2: who I've been with with our daughter, who is absolutely amazing,
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Speaker 2: was not on call that particular day, so she saw
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Speaker 2: us the Friday. But the pediatrician who stood in saw us,
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Speaker 2: and he also noted Low was a little bit the thargic,
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Speaker 2: but he did have a jaundice score not too high.
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Speaker 2: But they said, maybe it's the jaunders. Let's treat him
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Speaker 2: for that. So let's go home and set up phototherapy
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Speaker 2: at home, have a nurse come and see us at home,
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Speaker 2: because obviously you want to go home and you don't
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Speaker 2: want to spend too much time in the hospital. So
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Speaker 2: I was happy with that approach, and we thought, maybe
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Speaker 2: that's why he's a little bit lethargic. So went home
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Speaker 2: on the Sunday that was day four. Struggled that whole
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Speaker 2: Sunday because this was the morning for him to properly feed.
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Speaker 2: So the nursing sister was there so she helped me
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Speaker 2: Luctation specialists so she helped me to try and tube feed,
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Speaker 2: so we tried that. We tried lots of different things
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Speaker 2: while he was also under the lights, but still like
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Speaker 2: didn't really yeah, I mean from what I could see,
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Speaker 2: you would take in some of them all can then
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Speaker 2: he vomit but not biles, so I thought maybe it's reflux.
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Speaker 2: Not very concerning at that point. Then I think Monday morning,
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Speaker 2: at about two or three am, he had no week
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Speaker 2: nappy since when we were discharged from the hospital, so
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Speaker 2: I knew with all of those feedings that we were
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Speaker 2: trying to give him that he hasn't taken anything in
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Speaker 2: hence there's no weak nappists. So, like in South Africa,
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Speaker 2: were very blessed. We've got close relationships with the doctors.
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Speaker 2: My husband is also a medical professional in the hospital,
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Speaker 2: so we actually phoned the pediatrician in the early hours
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Speaker 2: and we said you need to meet us at emergency,
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Speaker 2: like something is not right. So at three am we
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Speaker 2: raised to the hospital. Luckily we had grandparents staying with us,
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Speaker 2: so they looked after our daughter went to the hospital
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Speaker 2: got admitted. Immediately, they placed him again in the incubator
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Speaker 2: under the lights, still thinking that it's jaundice, started doing
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Speaker 2: lots of tests because at present maybe like an infection,
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Speaker 2: maybe had some sort of infection, So they started him
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Speaker 2: on medication and they started running blood tests. So this
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Speaker 2: was again still the pediatrician that was on call. So
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Speaker 2: in the early morning hours my Monday morning, I think
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Speaker 2: at about seven am, I messaged our pede who was
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Speaker 2: not on call over the weekends. I said like, I
6:22
Speaker 2: don't know if you've heard, but we in hospital, and
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Speaker 2: immediately within the next thirty minutes, she was there and
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Speaker 2: she looked at Low and she was like, this is
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Speaker 2: not the same baby that she saw on Friday, the
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Speaker 2: last day she saw him before we got discharged. And
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Speaker 2: she's like she would have not just discharged him because
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Speaker 2: she saw him on the Friday and she knew what
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Speaker 2: he was like and what he looked like at Berfin
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Speaker 2: and she said, something is wrong. Some of the results
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Speaker 2: came back. It actually showed like some bus cells in
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Speaker 2: his urine and very weird results according to her person,
7:00
Speaker 2: and she was very confused with what is wrong. They
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Speaker 2: thought maybe it was a kidney pipe that's leaking. So
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Speaker 2: he had multiple I cannot remember what you called the scans,
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Speaker 2: but he immediately had some abdominal zonars and additional tests
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Speaker 2: to check if it's a kidney pipe that's leaking, and
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Speaker 2: everything that she did sort of came back negative to
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Speaker 2: what her initial thinking was because of course he did
7:28
Speaker 2: have that nappy and he did past tools initially, so
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Speaker 2: she called in one of the professors who was a
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Speaker 2: pediatric surgeon to come and look maybe if there's like
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Speaker 2: some surgical intervention that's needed. He consulted with Low. He's
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Speaker 2: actually a specialist in Hirshprung's disease, but to him also
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Speaker 2: didn't present as Hirshprung's disease. So he said, no, surgically,
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Speaker 2: it doesn't seem like there's anything wrong. She needs to
7:59
Speaker 2: do additional tests. So we carried on with testing, and
8:04
Speaker 2: this was now three or four days of just running tests,
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Speaker 2: trying to eliminate like sort of all of her thinkings
8:12
Speaker 2: like process of elimination literally, but obviously Low were still
8:17
Speaker 2: not feeling, so he was getting weaker, which was a
8:20
Speaker 2: concern because he could tolerate like low volumes of molk
8:24
Speaker 2: ten twenty miles he could tolerate before vomiting. So after
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Speaker 2: she's done multiple tests, she actually said, we need to
8:34
Speaker 2: be transferred to a different hospital where there's a new
8:36
Speaker 2: nactologist because she needs to consult with the new nactologist
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Speaker 2: as well. So we got transferred to a different hospital
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Speaker 2: where there was a more specialized team looking after Low,
8:50
Speaker 2: and still I'm just kind of fast track a little.
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Speaker 2: Probably two weeks later, we still had no diagnosis, so
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Speaker 2: the decision was made to insert broviac line for Low
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Speaker 2: to feed him through a broviac line because the lines
9:06
Speaker 2: that he had was leaking and pulling out, so they
9:10
Speaker 2: actually went with a broviac line, which he got in theater,
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Speaker 2: so at least we knew he was now getting sufficient
9:17
Speaker 2: feeding medical feed or that TPN while we are figuring
9:22
Speaker 2: out what is wrong with our child. Then there came
9:28
Speaker 2: a point where they thought maybe it's a metabolic disorder
9:32
Speaker 2: or condition, so they did lots of tests that that
9:35
Speaker 2: takes quite a while for the results to come out,
9:38
Speaker 2: so we were sort of like waiting for those tests,
9:43
Speaker 2: and there's the surgeons didn't want to intervene until the
9:46
Speaker 2: metabolic test results came out. So while we were waiting
9:51
Speaker 2: for those results, I did highlight again to her and
9:54
Speaker 2: I've referred to this in our conversation that low had
9:59
Speaker 2: a four a white patch of her in front, which
10:06
Speaker 2: the PID was saying, maybe this looks like Wordenberg syndrome
10:09
Speaker 2: and one of the Wardenberg syndromes. There's a correlation with
10:12
Speaker 2: a Sprungs disease. I cannot remember which type, whether it
10:15
Speaker 2: was three or four. There's four types. So she was
10:20
Speaker 2: saying to the surgeons that she believes this is Wardenberg
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Speaker 2: and a hirshprunx and they should have a look at hershbruns.
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Speaker 2: But they were still reluctant because Lowe was passing still
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Speaker 2: and he wasn't presenting as a normal Hirschbruns diagnosis or
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Speaker 2: giddy that they've seen in the past. In parlow to this,
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Speaker 2: we had a geneticist come to do genetic testing which
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Speaker 2: was seen to Germany to see if it is indeed Wardenberg.
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Speaker 2: While he's still waiting to figure out what his diagnosis was,
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Speaker 2: they at least wanted to confirm if it is Wardenberg
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Speaker 2: because with Wardenberg in conjunction with her sprunks, there can
11:03
Speaker 2: be other issues as well, like lack of hearing, etc.
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Speaker 2: So we alsod the genetic testing. Then in the meantime
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Speaker 2: the metabolic test results came back and it was negative,
11:16
Speaker 2: so there was no disorders that they could see. So
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Speaker 2: our pediatrician sold the surgeons. This is now probably three
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Speaker 2: approaching almost four weeks later, with we still no diagnosis
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Speaker 2: that they need to surgically go and have a look
11:35
Speaker 2: if there's something wrong, because they maybe thought it's like
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Speaker 2: the bands of the abdomen that's flopping over, so he's
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Speaker 2: barely is flopping over. I don't know, I cannot remember
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Speaker 2: all the dicta, but they did let a laparoscopic surgery
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Speaker 2: and had a look on the outside of the organs
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Speaker 2: if they could see anything strange ligaments pulling, must skiller
12:00
Speaker 2: issues around the gut area, and they didn't find anything,
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Speaker 2: so it came back out of theater nothing. Everything looks perfect.
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Speaker 2: So then the new nactologist also suggested that they do
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Speaker 2: a full fitness rectum biopsy, so they actually a few
12:19
Speaker 2: days later he went in for a gastroscopy and colonoscopy
12:22
Speaker 2: and they did biopsies throughout the whole GI tract so
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Speaker 2: small and testine large, and testine rectum but then, of
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Speaker 2: course it takes about five six days for these results
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Speaker 2: to become available, and we just kept on doing what
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Speaker 2: we're doing. He had the broviac line, he was getting feed.
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Speaker 2: We just went to visit him every day because we
12:45
Speaker 2: couldn't stay with him in the nequ so we had
12:48
Speaker 2: visiting hours. Just visited him every day and basically waited
12:51
Speaker 2: for the results. The Wardenberg results came back and it
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Speaker 2: all was negative, so there was no genetic mutation, so
12:58
Speaker 2: there was no correlation between his white flock and Hershprungs,
13:02
Speaker 2: which to this day is still very weird. But we
13:07
Speaker 2: are grateful for that because that sort of pursued the
13:10
Speaker 2: Hirshprungs disease diagnosis path. So I remember the day. It
13:16
Speaker 2: was on a Saturday. We were playing with our daughters
13:18
Speaker 2: at home because there's certain hours in the day that
13:21
Speaker 2: the babies need to sleep, so we're not allowed in
13:23
Speaker 2: the meet you, and the pediatrician phoned me, so she
13:27
Speaker 2: said she's got a tentative diagnosis. It looks like at
13:30
Speaker 2: sir Shprung's disease, but they need a bigger biopsy to
13:35
Speaker 2: confirm for sure. But that's the tentative diagnosis. So immediately
13:41
Speaker 2: she called the surgeons, et cetera. So she said, I
13:44
Speaker 2: think it was a few days after the Tuesday or
13:47
Speaker 2: the Wednesday. He's going to go into theater and they're
13:50
Speaker 2: going to do the biopsies with the pathologist in theater
13:54
Speaker 2: because she doesn't want to send him just for another
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Speaker 2: biopsy to theater and have him get an esthetic multiple times.
14:02
Speaker 2: So the pathologists, they apparently were about ten to twelve
14:05
Speaker 2: people in theater while they were literally doing a biopsy,
14:11
Speaker 2: passing it to the puffologist and checking, and then they
14:14
Speaker 2: would go up higher and do another biopsy again to
14:17
Speaker 2: just determine if there's a transverse section where maybe the
14:22
Speaker 2: nerve cells have like jumped a certain area, etc. So
14:27
Speaker 2: this was about almost six hours that he was in
14:30
Speaker 2: theater while they were doing this, and I remember we
14:34
Speaker 2: were sitting outside the theater room or the ward waiting
14:38
Speaker 2: and AH got a call. The pediatrician was actually also
14:44
Speaker 2: sitting with us. So the theater phoned a pediatrician and
14:47
Speaker 2: they were saying it is a Schbrun's disease. There was
14:50
Speaker 2: no nerve cells in the rectum. They went further up
14:53
Speaker 2: and they did found nerve cells by the oh I
14:56
Speaker 2: cannot remember what you call that portion of the coaton. Anyways,
14:59
Speaker 2: they did found nerve cells in portions of the large
15:02
Speaker 2: and testine, so it's a very small section, but they
15:06
Speaker 2: did form a stoma. And I remember like bursting out
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Speaker 2: into tears and I'm like, what like a stoma? Like
15:13
Speaker 2: this was like I didn't even think about a stoma
15:16
Speaker 2: because a lot of the research that I did was
15:18
Speaker 2: usually if they find it, they do pull through immediately,
15:22
Speaker 2: So I thought if they found it, they would just
15:25
Speaker 2: remove that portion do the pull through. But y'ah, the
15:28
Speaker 2: they actually did a stoma formation. He came out of theater.
15:34
Speaker 2: I was like so shocked with like your newborn baby,
15:37
Speaker 2: he was about six or seven weeks old at that
15:40
Speaker 2: point in time, really had the stoma formation. And ow
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Speaker 2: P just told me like the stoma basically saved his life,
15:47
Speaker 2: so like you just need to deal with this. Put
15:50
Speaker 2: on your big girl band. Is the stoma saved his life.
15:52
Speaker 2: Your baby is going to be fine, and we've got
15:54
Speaker 2: a diagnosis. And it was quite overwhelming because the next morning,
15:58
Speaker 2: immediately the stoma clinic was there with me teaching me
16:02
Speaker 2: how to work and deal with the stoma. And this
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Speaker 2: professor I said, the pediatric surgeon, he's about seventy five
16:11
Speaker 2: years old and he's got a mentee who works with them.
16:15
Speaker 2: I'm so grateful for the two of them. They were
16:17
Speaker 2: an amazing team. But he explained to me that his
16:22
Speaker 2: approach is to do a stoma. Whether they could have
16:25
Speaker 2: done pulled through or not. They felt like his bowl
16:28
Speaker 2: needed to heal. You only get one chance to reattach
16:32
Speaker 2: and for them it was more important to do the
16:34
Speaker 2: stoma and let everything just settle before we do the reversal.
16:39
Speaker 2: And you know, I was a little bit annoyed initially
16:41
Speaker 2: because I thought you could have done it, But in hindsight,
16:46
Speaker 2: I mean, this was the best that could have happened.
16:48
Speaker 2: So we had the diagnosis of ershpruns, we had the stoma,
16:53
Speaker 2: we now knew it's not Wodenberg, and then probably a
16:56
Speaker 2: week later, sawing that the stoma was working, we got
17:00
Speaker 2: discharged and then it was like going home with a
17:04
Speaker 2: baby for stroma bag. I mean, I was so overwhelmed.
17:09
Speaker 2: But luckily we do have amazing support and we had
17:11
Speaker 2: a stoma clinic I used to visit. They actually loved
17:15
Speaker 2: Low there because he was the only get a baby
17:17
Speaker 2: maybe once a year in the clinic, so everybody loved
17:21
Speaker 2: him so much. I mean when we walked in there,
17:23
Speaker 2: he was so like spoiled by all the nurses and
17:27
Speaker 2: the staff members. But nonetheless, we then had the stoma journey.
17:33
Speaker 2: So he got the stoma at about seven weeks, and
17:38
Speaker 2: then we had to do dilations at home once a
17:43
Speaker 2: day for as long until he got the reversal, so
17:47
Speaker 2: we needed to keep it stretched down there. So that
17:50
Speaker 2: was his approach. Our pediatric surgeon's approach was to do dilations,
17:55
Speaker 2: so we did that and then we had follow up appointments.
18:00
Speaker 2: Was working. Wow, they had to look down there. It
18:02
Speaker 2: wasn't too tight, so that was all good. Then we
18:05
Speaker 2: had a the pool through or not the pool through
18:09
Speaker 2: the Yeah, the pull through. He had the pool through
18:12
Speaker 2: scheduled first, so they do the pool through and the
18:15
Speaker 2: reversal into different surgeries. I don't know if that's the
18:19
Speaker 2: same approach. But we then went back into hospital when
18:23
Speaker 2: he was about eight months old to do the pool through.
18:28
Speaker 2: So that wasn't too bad. I mean, so they went
18:31
Speaker 2: in and they basically as how they explained it to me,
18:35
Speaker 2: was removed that diseased portion and basically almost not former
18:41
Speaker 2: new rectum, but because these was down very low low
18:45
Speaker 2: low segment, so had that fixed, but obviously still had
18:49
Speaker 2: the stoma. We were discharged. Everything was good. He think
18:53
Speaker 2: we were in the hospital for about five days. He
18:56
Speaker 2: responded really well, and then after the pool through about
19:01
Speaker 2: a month or a month and a half later he
19:03
Speaker 2: would have stoma reversal surgery. So he was probably nine
19:08
Speaker 2: and a half months at this point, but happy, thriving,
19:12
Speaker 2: growing while eating, being normal, and then when we had reversal,
19:20
Speaker 2: to me, that was very traumatic. I wish people informed
19:26
Speaker 2: me that the reversal was the hardest part actually for me,
19:30
Speaker 2: because after they do the reversal, obviously it's null per
19:34
Speaker 2: mouth until they are stool, and we weren't allowed to
19:39
Speaker 2: feed because they didn't want too to pass there, so
19:42
Speaker 2: let it like hell for a few days. So I
19:44
Speaker 2: think for about five days we didn't feed him per mouth.
19:47
Speaker 2: He still had his broviac line which we were feeding
19:53
Speaker 2: him through. But yeah, it was just difficult not feeding
19:58
Speaker 2: a nine month old baby per botter and he's crying
20:00
Speaker 2: for a bottle, so that was really tough. We did
20:03
Speaker 2: have some complications with not with the procedure itself, but
20:08
Speaker 2: just with some of his lines and stuff leaking. He was, Oh,
20:12
Speaker 2: he was so unhappy. He was sare. I think what
20:16
Speaker 2: the surgeon also explained to me, removing a stoma and
20:19
Speaker 2: removing or going through those muscular layers is very painful
20:23
Speaker 2: for them. So like the crunching up position, it was
20:27
Speaker 2: really tough. So we were in hospital for about eight
20:32
Speaker 2: days because they wanted to see that that he then
20:36
Speaker 2: once we started feeding that he passes stool. We did
20:40
Speaker 2: have the dreaded nappy rash and that everybody tells you
20:43
Speaker 2: about that was really bad. So we did have the
20:48
Speaker 2: bad nappy rash. And then yeah, we were discharged and
20:53
Speaker 2: he was recovering. While he was pooing on a normal
20:58
Speaker 2: schedule like a baby, he was very You could see
21:05
Speaker 2: that it was a weird sensation for him or something
21:08
Speaker 2: to adapt to. So each time when he felt the
21:11
Speaker 2: urge that he had to pooh or pass the stool
21:15
Speaker 2: it was he cried quite a lot. I think he
21:19
Speaker 2: was obviously just not used to that feeling. So it
21:23
Speaker 2: was very traumatic for all of us. And because we
21:26
Speaker 2: did the dilations, he had this like connotation with the
21:31
Speaker 2: nappy changing station and the dilation. So when you wanted
21:35
Speaker 2: to change his nappy. You were so unhappy because he thought,
21:38
Speaker 2: you know, we're probably going to do dilations. But yeah,
21:43
Speaker 2: that probably carried on for about four or five weeks
21:46
Speaker 2: where he just had to get used to the feeling.
21:49
Speaker 2: I guess, I'm not sure. But then thereafter it sort
21:53
Speaker 2: of got better. I mean, he was happy, he wasn't
21:56
Speaker 2: in pain anymore, the nappy rash was gone. Tried everything,
22:01
Speaker 2: like I even got a recommendation that you should use
22:05
Speaker 2: the stomapowder for nappy rash, which I still had loads off,
22:09
Speaker 2: which I did and it did help. But anyways, about
22:13
Speaker 2: two months after that, he had a checkup procedure where
22:17
Speaker 2: they wanted to he had to go into theater again
22:20
Speaker 2: and they just wanted to check that there's no it's
22:24
Speaker 2: not too narrow, and if it is, they would have
22:26
Speaker 2: surgically or just stretch stretch it, but that was not needed,
22:32
Speaker 2: so they went, they checked and everything was fine and
22:35
Speaker 2: we were discharged the same day. John, I guess that
22:40
Speaker 2: was basically his last check up after the diagnosis was
22:45
Speaker 2: probably at about eleven months old, and then there was
22:49
Speaker 2: nothing concerning or wrong, and since then he is thriving.
22:57
Speaker 2: He hasn't had any like bost that haven't had any
23:02
Speaker 2: issues or any constipation. He's actually passing still really well.
23:09
Speaker 2: He is big, he's chunky. We had a little bit
23:14
Speaker 2: of it initially delay with like tummy time. He wasn't
23:18
Speaker 2: too happy on his tummy with his stoma bag. So
23:21
Speaker 2: I was a little bit concerned because our daughter was
23:23
Speaker 2: like walking at ten months old, but low catched up
23:28
Speaker 2: at eleven months. He started walking and running at twelve months.
23:32
Speaker 2: So he's like very busy case. He wanted to keep
23:36
Speaker 2: up with his little sister. But y'all, what I wanted
23:39
Speaker 2: to say is friend's family and people who see him,
23:44
Speaker 2: who knows about his history and his journey, cannot believe that.
23:49
Speaker 2: You know, this little boy has been through so much,
23:51
Speaker 2: but he besides the scars, but it's not a lot
23:54
Speaker 2: of the stoma scares probably the biggest one. But besides that,
23:58
Speaker 2: you wouldn't even tell there was anything wrong. But with
24:05
Speaker 2: his whole journey. The surgeons did say, because even the
24:11
Speaker 2: day he went in to do the biopsies again with
24:15
Speaker 2: the bafologist and theater, the surgeon told me it's not
24:17
Speaker 2: Hirshbrunk's disease. So he was convinced that up until that
24:23
Speaker 2: point in time that it wasn't Hirshbrunk's disease. But afterwards
24:26
Speaker 2: he told us like, there's just some patients that prove
24:29
Speaker 2: you differently, so they what they call they do like
24:33
Speaker 2: a write up of his scenario to share because it
24:38
Speaker 2: wasn't presenting as your normal Hirshbruns diagnosis. Baby, you didn't
24:42
Speaker 2: have that initial nappy. But yeah, since then, which was
24:47
Speaker 2: great is obviously the podcast and relating to other parents
24:51
Speaker 2: who went through something similar. And I felt like in
24:56
Speaker 2: South Africa there wasn't enough awareness, so I registered with
25:00
Speaker 2: Red Diseases, which is an organization that creates awareness around
25:04
Speaker 2: red diseases, but there's not also a lot of movement
25:06
Speaker 2: that happened there. We worked very closely with a dietitian
25:11
Speaker 2: who specialized in her sprungs and she connected me with
25:17
Speaker 2: some other moms through her network with kiddies who she's
25:21
Speaker 2: working with, which was really great because those moms actually
25:27
Speaker 2: wanted to chat to someone and I've sort of been
25:29
Speaker 2: through the journey and some of the other moms had
25:31
Speaker 2: kiddies who were a little bit older. So we formed
25:34
Speaker 2: our little own network just to tell one another you
25:39
Speaker 2: know it's going to be okay, Like it's going to
25:41
Speaker 2: be okay. But even just the four of us, each
25:45
Speaker 2: story is different already, which just makes it crazy, like
25:50
Speaker 2: each journey is not the same. Our boy doesn't. It
25:54
Speaker 2: passes about one or has one to two nappis the day.
25:57
Speaker 2: We're one of the other moms, her boy had about
25:59
Speaker 2: ten nappy is a day, so it was completely different.
26:04
Speaker 2: So it was nice to connect to someone who is
26:07
Speaker 2: in the same country because obviously we can speak about
26:10
Speaker 2: the half key challenges or whatever the case might be,
26:15
Speaker 2: which was really great to just know that you're not
26:18
Speaker 2: the only one that's going through this, Yuah. And I
26:23
Speaker 2: just want to highlight that even though this diagnosis came
26:29
Speaker 2: upon us, I mean, everything was normal in my pregnancy
26:33
Speaker 2: and it came as a bit of a surprise and
26:34
Speaker 2: we dealt with it. It made us as a family
26:37
Speaker 2: so strong, and I wouldn't exchange the experience that we've
26:41
Speaker 2: been through because I can see he's such a resilient
26:44
Speaker 2: boy and what he's been through obviously has shaped him
26:48
Speaker 2: into the little human that he is. And yeah, I
26:52
Speaker 2: think that the experiences he's not going to remember, but
26:54
Speaker 2: I do think that it's a character balld being element
26:59
Speaker 2: that he's been through and you know, we'll always remind
27:02
Speaker 2: him how strong he was basically since birth and you
27:07
Speaker 2: just had all of these like challenges thrown at him.
27:11
Speaker 2: But he yeah, he really is doing well. And one
27:17
Speaker 2: last comment there was there's this Facebook. I'm sure most
27:20
Speaker 2: hirshbrungs people who's affected by hirshbrons might not this huge
27:24
Speaker 2: Facebook global group, which was the only resource I could
27:27
Speaker 2: join because that's the only place I found people to
27:30
Speaker 2: connect with. And that group was very insightful, but it
27:35
Speaker 2: was also a lot of negative stories, which I'm really
27:39
Speaker 2: sorry if that's the experience, and then I do feel
27:42
Speaker 2: for those families, but it was a lot of negativity
27:46
Speaker 2: where I actually had to leave the group because I
27:48
Speaker 2: couldn't deal with all the negative comments anymore. So I
27:52
Speaker 2: literally posted our journey a positive journey, and I left
27:56
Speaker 2: the group because I could not face all of those negativity,
28:02
Speaker 2: not negativity, but all the sad around the disease and
28:06
Speaker 2: not seeing positive stories. And that's why I thought the
28:10
Speaker 2: podcast is maybe my last way of sharing a positive experience.
28:17
Speaker 2: And yes it was tough, but now we've got a normal,
28:19
Speaker 2: healthy boy who's living his life and he's just thriving,
28:23
Speaker 2: and then possibly close our chapter on this, I do
28:28
Speaker 2: understand that maybe I don't know, will there be obstacles
28:31
Speaker 2: in the future, Maybe, maybe not, but we're just living
28:34
Speaker 2: in the moment for the time being. He's fine and
28:37
Speaker 2: he's healthy, and we just sort of actually forget about everything. Yeah,
28:44
Speaker 2: I know that was a lot, but.
28:46
Speaker 1: No, no, that that's a fantastic and fascinating story. I
28:51
Speaker 1: think you're absolutely right when you search for things online
28:55
Speaker 1: and you do come across a lot. I mean, I
28:58
Speaker 1: do search for a lot of things on hirsh Brungs
29:01
Speaker 1: and you do come across a lot of that negativity.
29:04
Speaker 1: And each to their own. But like I know, we
29:07
Speaker 1: were talking a little bit off air about sort of
29:11
Speaker 1: this podcast, and I wanted to keep it very much
29:14
Speaker 1: you know, positive, not ignore you know, all the stuff
29:17
Speaker 1: that's happened. But it's it's an up and down journey
29:20
Speaker 1: as you've just as you've just proven. But I think
29:24
Speaker 1: having that sort of it's like it's like we said
29:26
Speaker 1: with the Network group, having that sort of you know,
29:30
Speaker 1: I've been through this experience, and you know, everyone goes
29:34
Speaker 1: through different experiences, but I've been through this experience and
29:37
Speaker 1: we're okay. You know. I think having that that sort
29:42
Speaker 1: of light at the end of the tunnel, I think
29:44
Speaker 1: really really helps. And yeah, that's why I have joined
29:49
Speaker 1: the Facebook groups. I have just to sort of say, like,
29:52
Speaker 1: you know, I've got these experiences and you know, people
29:55
Speaker 1: doing really well. Absolutely, and.
30:00
Speaker 2: No, sorry for interrupting. I guess that's the thing. So
30:02
Speaker 2: when we had the diagnosis and we didn't know what
30:07
Speaker 2: the future would hold and when would reverseal be and
30:10
Speaker 2: wipe all this entail, and having the Facebook group or
30:15
Speaker 2: that group as your reference freak me out a little.
30:18
Speaker 2: I would like, oh my word, like what are we
30:22
Speaker 2: going to do? And my husband actually I got like
30:27
Speaker 2: obsessed with the group. I was on the group constantly
30:29
Speaker 2: relating to stories, and my husband was like, you need
30:33
Speaker 2: to stop reading every single post, every single comment on
30:38
Speaker 2: this group because you're going to drive yourself mad. And
30:42
Speaker 2: I actually did. I was still present on the group,
30:45
Speaker 2: but I was not as much involved in reading through it.
30:49
Speaker 2: And I actually saw a counselor. I didn't feel like
30:53
Speaker 2: I needed one because I felt sort of okay throughout
30:56
Speaker 2: the journey. Yes, it was emotional, but I then made
31:00
Speaker 2: the decision to speak to somebody to make sure down
31:03
Speaker 2: the line that there's no depression or because some of
31:08
Speaker 2: the other months that I have connected with thirteen fourteen
31:11
Speaker 2: months after they did all in some form of depression,
31:15
Speaker 2: so I wanted to avoid that and be proactive about it.
31:18
Speaker 2: So I did speak to a counselor, and I had
31:20
Speaker 2: somebody who I had sessions with, and she also asked me, like,
31:23
Speaker 2: what is your main aim of meeting with me? So
31:27
Speaker 2: I explained to her when people asked me about his diagnosis,
31:31
Speaker 2: I burst into tears each and every time, so I
31:33
Speaker 2: sort of felt like that annoying friend who you don't
31:36
Speaker 2: want to invite her Brian anymore, because each time the
31:39
Speaker 2: topic comes up, you cry. So I was like, you
31:43
Speaker 2: know what, I want to be able to speak about
31:48
Speaker 2: it and not cry about it, and share a story
31:51
Speaker 2: and share what we've been through and just be strong,
31:55
Speaker 2: and that was our main aim of the sessions. And
31:57
Speaker 2: I finally came to a point where it was like, oh,
31:59
Speaker 2: you know what, somebody asked me about his diagnosis the
32:02
Speaker 2: other day and I had a full on conversation with
32:05
Speaker 2: no tears, And I guess that's why I also felt
32:07
Speaker 2: maybe it's the appropriate time to reach out to you
32:10
Speaker 2: and share our story. But the counselor also told me
32:15
Speaker 2: her advice was share your positive story on the group,
32:20
Speaker 2: share what you wanted to share, and then leave, which
32:22
Speaker 2: I did. So I've sort of closed that chapter and
32:27
Speaker 2: I felt like sharing it on your podcast, which again
32:30
Speaker 2: I think is amazing. Will also be again closing this
32:35
Speaker 2: chapter that we've been through.
32:38
Speaker 1: Yeah, I think you've done fantastically well. I mean, there
32:42
Speaker 1: are people and I guess, like myself, I didn't share
32:45
Speaker 1: until I was thirty one years old. So the fact
32:49
Speaker 1: that you've done after about fourteenth is about fourteen fifteen
32:53
Speaker 1: months or so, is remarkable. So thank you, who goes
33:00
Speaker 1: to you for that? You so one part from the
33:03
Speaker 1: story I was just going to mention. We talked about
33:06
Speaker 1: the passing of Maconium and it being, you know, that
33:10
Speaker 1: being a real red flag and telltale sign that hirsh
33:13
Speaker 1: Sprungs would potentially be present, and just double checking as well,
33:18
Speaker 1: ultra short segment. Again a very to have a rare
33:22
Speaker 1: condition and then have a rare part of that condition
33:25
Speaker 1: as well must have been extraordinary.
33:28
Speaker 2: And so interestingly enough at once, I was very thankful
33:32
Speaker 2: that it was ultra short but very interesting. So after
33:38
Speaker 2: we had our appointment with the geneticist, so we obviously
33:44
Speaker 2: had the genetic testing done, and then we saw a
33:47
Speaker 2: geneticist because we wanted to understand if we in the
33:52
Speaker 2: future would want to have a third baby, what would
33:55
Speaker 2: be the chances of this happening again. So and I'm
34:02
Speaker 2: just gonna basically relay the message of what I can remember.
34:05
Speaker 2: There was obviously more medical terms involved, but what she
34:08
Speaker 2: explained to me is crest cells. And I'm just going
34:12
Speaker 2: to be very simple, but crest cells are the cells
34:16
Speaker 2: that obviously understood correctly, migrate through the colon, which is
34:21
Speaker 2: the nerve cells, and it starts from the top and
34:23
Speaker 2: migrates all the way down to your rectum. And obviously
34:26
Speaker 2: he didn't migrate to that last little portion, and that
34:31
Speaker 2: is what happened with his hair. So crest cells also
34:36
Speaker 2: are the cells that carry the pigmentation for your hair color.
34:41
Speaker 2: So the same way those crest cells didn't migrate throughout
34:45
Speaker 2: the colon, it didn't migrate to that small, little four
34:48
Speaker 2: lock portion in his hair. Hence he had the white
34:53
Speaker 2: little patch. So it was actually the similar cells who
34:57
Speaker 2: migrate through the colon is the same cells it gives
35:00
Speaker 2: the pigmentation to the head. So that was very weird.
35:03
Speaker 2: I found it quite interesting. Yeah, I.
35:07
Speaker 1: Didn't know that, and I would never I don't think
35:11
Speaker 1: I would have ever ever even thought of that. I
35:15
Speaker 1: know we would kind of spoke a little bit before
35:17
Speaker 1: exchange messages on Instagram, and you talked about the fore lock,
35:21
Speaker 1: and I just thought that was incredibly interesting because it's
35:24
Speaker 1: not even something that even entered my mind that this
35:30
Speaker 1: would this would present, I know, in the relation of hirshbrunks.
35:35
Speaker 2: So and when you have a look at Wardenberg and hirshbrunks,
35:39
Speaker 2: obviously there's a correlation. But when we knew it wasn't
35:42
Speaker 2: Wardenberg because those tests came back negative, I wanted to
35:47
Speaker 2: understand why does he have the white forelock, like, why
35:50
Speaker 2: is that den And she then explained to me crist cells,
35:55
Speaker 2: the same celes who does the migration through the colon
35:59
Speaker 2: the nerve cells, is also the ones that gives pegmentation
36:02
Speaker 2: to the hair. So he's just didn't migrate to that
36:05
Speaker 2: portion of his hair the same way. It didn't migrate
36:09
Speaker 2: right towards the end of his rectum. But we do
36:13
Speaker 2: love that four lock. Now it makes him so unique.
36:16
Speaker 2: I get so many compliments with this little white patch
36:20
Speaker 2: of hair which is like perfectly positioned in his fringe,
36:23
Speaker 2: or like, yeah, it looks like people are like that
36:26
Speaker 2: looks so cool. Then I told him Initially I didn't
36:30
Speaker 2: like it, and initially I was like, what is this?
36:34
Speaker 2: Like what is this white patch of hair? But after
36:37
Speaker 2: it helped the team to diagnose him, I actually fell
36:41
Speaker 2: in love with his little white four lock. So I
36:44
Speaker 2: do love it. I think it makes him unique.
36:46
Speaker 1: Absolutely. I think so too. It's like, yeah, no, absolutely,
36:51
Speaker 1: because it makes it makes him entirely unique. Again, as eventually,
36:56
Speaker 1: I'd never never heard of anything of anything even remotely
37:01
Speaker 1: like that, but as you mentioned, it makes it makes
37:03
Speaker 1: absolute total sense as to why as to why I'd
37:06
Speaker 1: have the fallout because the sales didn't migrate in or
37:09
Speaker 1: the cress sales didn't migrate in, et cetera.
37:12
Speaker 2: But yeah, I find that interesting. I do.
37:15
Speaker 1: I find that absolutely fascinating. And I wonder if I
37:19
Speaker 1: wonder how many people will have seen anything like that before,
37:24
Speaker 1: because I mean I certainly haven't, and especially the people
37:26
Speaker 1: I've talked to, I haven't seen that before. But I
37:30
Speaker 1: loved the fact that you you really like the fallot
37:34
Speaker 1: and embrace it and me did that? I know you
37:38
Speaker 1: said initially you weren't overly but keen, but how long
37:43
Speaker 1: did that sort of take before you thought, oh, actually
37:45
Speaker 1: this is this is good?
37:47
Speaker 2: Yeah? Good questions So very very interesting. When they gave
37:52
Speaker 2: him to me right after you was born, obviously you
37:56
Speaker 2: can't see exactly clearly what they look like until they
37:59
Speaker 2: may be like why them or whatever, and on they
38:03
Speaker 2: I think it was still day one. Towards the end
38:05
Speaker 2: of day one, I was like, what is this white
38:06
Speaker 2: patch of hair? Because I didn't ask the peede. The
38:10
Speaker 2: next morning, I'm like, what is this? She's like, no,
38:11
Speaker 2: it looks like Wardenberg, but she's had Wardenberg's before and
38:15
Speaker 2: it's never really caused an issue. So we'll chat about that.
38:18
Speaker 2: At his six months check up appointment and I remember
38:22
Speaker 2: like taking photos and had to look at this white
38:25
Speaker 2: patch and I'm like, this is so weird. It wasn't
38:30
Speaker 2: too keen on it. And then after they were trying
38:35
Speaker 2: to figure out his diagnosis, there was always this big
38:38
Speaker 2: commotion made about the white patch and Wardenberg and hershprunks.
38:42
Speaker 2: And then it annoyed me a little bit more because
38:44
Speaker 2: now it's always this topic. When people see him for
38:47
Speaker 2: the first time, they're like, oh, look at this white
38:49
Speaker 2: patch of hair, and I'm was like, obviously, I see it.
38:53
Speaker 2: But somebody, one of the nurses actually mentioned like they
38:59
Speaker 2: love it makes him unique. He's going to be known
39:03
Speaker 2: as the boy with the little white fourlock in a
39:05
Speaker 2: good way. She's like, girls are going to know is
39:08
Speaker 2: that boy with the white heath. But anyways, long story short,
39:11
Speaker 2: my husband loved it right from the start, which I
39:14
Speaker 2: mean I look at him and I'm like, wow, you're
39:17
Speaker 2: really amazing because I didn't like it, but you just
39:20
Speaker 2: loved it right from the start. So I think after
39:24
Speaker 2: that sort of gave us the indication and led to
39:29
Speaker 2: the diagnosis is knowing that there's no syndrome associated with it.
39:34
Speaker 2: I came around to love it, and it did take
39:37
Speaker 2: me a few weeks, but I then that really start
39:42
Speaker 2: to love it, and I don't mind sharing pictures. I mean,
39:46
Speaker 2: afterwards I can share a picture of what it looked
39:49
Speaker 2: like after birth, because it was really white because his
39:53
Speaker 2: hair was dark. But his hair is actually a little
39:55
Speaker 2: bit blonder now so it doesn't stand out as much,
39:58
Speaker 2: so it looks really cool. It looks like we gave
40:00
Speaker 2: him a highlight. That's what people might think.
40:05
Speaker 1: I think people pay a lot of money for highlights,
40:07
Speaker 1: like that you got it for free.
40:08
Speaker 2: Yeah, I know, Hey, I know it does look like
40:10
Speaker 2: they gave him highlights. But I also connected there was
40:15
Speaker 2: actually I can recall there was a mom who I
40:20
Speaker 2: connected with. I think she was in Australia who also
40:24
Speaker 2: had a baby with a white fourlock because I was
40:26
Speaker 2: now looking into white four locks and trying to connect
40:29
Speaker 2: with people whose baby has it who's not Wardenberg. And
40:33
Speaker 2: her baby was a little bit older, and she mentioned
40:36
Speaker 2: to me she initially also didn't like it, but now
40:41
Speaker 2: she loves it. And I think that also encouraged me
40:44
Speaker 2: to embrace his uniqueness, not only Hugh Sir Sprung's diagnosis,
40:48
Speaker 2: but how he is different. Yeah.
40:51
Speaker 1: Absolutely, absolutely fantastic. As we sort of circled towards the
40:57
Speaker 1: end here, i'd like to talk a little bit just
40:59
Speaker 1: about the future. I know you've said that your son's
41:03
Speaker 1: getting gone really really well, which is so so good
41:06
Speaker 1: to hear, and that you're also as a family sort
41:09
Speaker 1: of big sports fans as well as your son also
41:12
Speaker 1: into sports.
41:13
Speaker 2: Yeah, so what we can see compared to our daughter
41:18
Speaker 2: like very active, very busy. I'm not used to boys.
41:21
Speaker 2: I was used to a girl, so having that element
41:25
Speaker 2: in our house is crazy. Jumping, climbing and really doing
41:29
Speaker 2: everything after his sister. So my husband and I are
41:34
Speaker 2: sports enthusiasts. He used to play rugby professionally after school.
41:39
Speaker 2: I used to play hockey and lots of athletics, so
41:43
Speaker 2: we really a sporty family. So my always, my biggest
41:49
Speaker 2: concern was I just wanted him to be normal and healthy,
41:54
Speaker 2: whether he's sportsy or not, but to be able to
41:57
Speaker 2: partake in whatever he wants, just to be healthy. So
42:03
Speaker 2: with regards to his diagnosis and how it's managed in
42:06
Speaker 2: South Africa, again, we're so lucky that we close with
42:10
Speaker 2: our peed, so I don't think I would ever move
42:14
Speaker 2: to a general practitioner. We continuously take him to his
42:17
Speaker 2: pediatrician because she knows his history. We've traveled a little
42:22
Speaker 2: bit with him as well. She's just locally but two
42:25
Speaker 2: different parts of the country. And when he does get sick,
42:29
Speaker 2: I'm like, we need to get on a flight back
42:31
Speaker 2: to Cape Town. Like nobody else is looking at our baby.
42:34
Speaker 2: He's not getting admitted elsewhere. So we literally have on
42:39
Speaker 2: what's happened. She's basically part of our family because we're
42:42
Speaker 2: so grateful for her and the role that she's played
42:47
Speaker 2: in Low's journey. But she basically keeps a close eye
42:50
Speaker 2: on him. And again we haven't had any concerns or
42:55
Speaker 2: reasons besides like your common cold and flu and whatever
42:59
Speaker 2: to really be back there, but we will eventually, we
43:04
Speaker 2: chat to the surgeon, maybe in two years time, just
43:07
Speaker 2: take him back for a check up. There's no particular reason.
43:10
Speaker 2: They will just again check that it's stretched enough down
43:13
Speaker 2: there and it is on the side or I don't
43:16
Speaker 2: know what you want to call it, that it is
43:18
Speaker 2: supposed to be at. But there was no reason for
43:21
Speaker 2: them also to say that we need to routinely come
43:24
Speaker 2: every x amount of years. Their biggest aim was to
43:28
Speaker 2: have him in a social environment being able to I
43:32
Speaker 2: think they call it I'm going to forget the word,
43:34
Speaker 2: and my husband and I love the word, but basically
43:38
Speaker 2: what it was is that in a social environment he
43:41
Speaker 2: needs to be able to not have accidents when he's older,
43:46
Speaker 2: he needs to be able to control his bow, and
43:47
Speaker 2: that was our main aim, was to not damage the
43:51
Speaker 2: nerve so that he has control there and well so
43:54
Speaker 2: far everything is functioning the way it should, but we know,
43:59
Speaker 2: we definitely post know with our pediatriction. I have to
44:02
Speaker 2: say she it's just nice knowing that she's a call
44:05
Speaker 2: away and that she knows his whole, whole journey.
44:09
Speaker 1: Fantastic. Well, thank you, thank you ever so much for
44:12
Speaker 1: coming on. It has been an absolute pleasure to talk
44:16
Speaker 1: to you and to listen and share in your story.
44:20
Speaker 1: And I guess it remains for me to just say
44:22
Speaker 1: that I wish you, your son and your entire family
44:27
Speaker 1: all the very very best through the future, and thank
44:29
Speaker 1: you so much for coming on.
44:31
Speaker 2: No, thank you, And again I want to highlight the
44:34
Speaker 2: fact that you've got this forum and I mean you
44:37
Speaker 2: reach somebody in South Africa to come and share their journey.
44:40
Speaker 2: It's amazing. It just goes to show that it really
44:43
Speaker 2: touches people across the globe and it's a relevant topic
44:46
Speaker 2: and it's a disease that needs to be spoken off more.
44:52
Speaker 2: I feel like people need to be educated on it,
44:54
Speaker 2: people need to be aware that it's this type of condition,
44:57
Speaker 2: and they need to know that they're not alone. So
45:00
Speaker 2: I just want to say, like your podcast has touched
45:02
Speaker 2: me and I really hope that the story can inspire
45:08
Speaker 2: other families as well, and continue to do the great
45:11
Speaker 2: work and have this page up and running, and I
45:15
Speaker 2: will definitely refer it to some of my other moms
45:20
Speaker 2: who went through something similarly if you maybe want to
45:22
Speaker 2: have some more South Africa on your podcast or they
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Speaker 2: can also also share their journeys. But thank you so
45:30
Speaker 2: much for your time as well. Really appreciate it.
45:33
Speaker 1: Thank you, Thank you for listening to the podcast. Find
45:40
Speaker 1: us on Instagram Tom's Underscore Hirshbrun's Underscore podcast. Listen to
45:45
Speaker 1: previous episodes on Spotify by searching Tom's Hirshbrung's podcasts