Sounds like your knowledge in the field really helped you make a clear, logical decision at that point.

Yeah, because unfortunately I see these kids that have all these severe problems.

I see that and it's hard on the child and the parents and the whole family and it's not something we would want to put our child.

Through our TFMR stories, pregnancy loss support in the heartbreak of terminating a wanted pregnancy.

I'm Sabrina.

I'm a TFMR loss mom to my daughter Clara.

Or hydrops, cystic hygroma, potential chromosomal defects, and my own health.

My decision was for all of those factors and more.

And now I help other TFMR parents in their darkest hour, parenting through the impossible.

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You can talk to someone about this, e-mail me, or book a call.

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This is our TFMR Stories support in the heartbreak of terminating a wanted pregnancy.

Thank you for tuning in to another episode of our TFMR Stories.

I am Sabrina Fletcher, the TFMR doula, and we have another parent story for you today.

We have Rachel Pullen's on today and a little bit about her story.

She has been through chemical pregnancy and fertility journey with IUI leading to a pregnancy that ended in TFMR for a severe and rare genetic mutation called K AT6B.

She also happens to be a pediatric genetic counselor, and we'll talk about how her professional understanding has shaped her whole experience through all of this.

So thank you, Rachel.

Thank you for having me.

Thank you so much.

I like to start these interviews by asking you to share a positive memory or some sort of connecting memory from the pregnancy that you lost.

Yeah.

So I think so there's two things that come to mind.

So I think since we went through fertility treatments, we had the privilege to have very early ultrasound.

So I think that first ultrasound at six weeks when we finally, after not being able to get pregnant for so long, heard the heartbeat for the first time was very exciting.

And this was like this is real, this is like actually happening this time.

And that was happy memory and very exciting.

And then another exciting, happy, but also bittersweet was the first time my husband got to feel the baby.

And why I say it was bittersweet because it was after we had learned of the diagnosis, but it was very, I was glad that he was able to have that opportunity prior to to the procedure.

But those are two happy things that can think about from the pregnancy.

Yeah, definitely bittersweet.

You know, when we when we look back on our memories and yet these are the moments that that we have to remember our babies.

So at what point in the pregnancy did you know that something was wrong or were there some things that showed up earlier and did you have to do extra testing?

How did How did that all happen for you?

So the first trimester was pretty uneventful, which we are glad about.

So we go into our our sixteen week anatomy scan not really expecting much at the time because like everything's been fine so far.

In the second trimester, things are looking good, but when they were scanning me, I just felt that something was wrong.

I had no idea what I was actually looking at on the the ultrasound screen, but I just felt that something was wrong.

I didn't know what, but I'm like there's something wrong.

And we had a wait to I think it was like over 2 hours before we actually spoke to a doctor after the ultrasound.

And I just, I just had this feeling that something was wrong.

I had no idea what, but I was like, there's something that's wrong.

My husband's like everything's fine.

Like he was just sitting there working while we were waiting and I'm like something's wrong.

So finally, they told us that the baby had bilateral club feet, or at least initially, they said likely because of the positioning of the baby, they weren't 100% sharp.

They like Freescan me and they're like, it still looks likely.

But that was kind of when things went downhill.

I should say, when we received that, that first diagnosis of bilateral clubs be at 16 weeks.

Yeah.

And I imagine working in the field, working in the medical field, you probably have a sixth sense.

You know, you can just feel when the medical professionals maybe have some bad news that they're like, oh, how are we going to say this?

I I imagine that could have been what you were feeling.

Maybe or a lot.

It's just from what I see when I see my patients, like the parents just know they know certain things about their child.

So I think maybe a combination of both.

I'm not.

I'm not sure.

So you you had a feeling something was wrong.

Yeah.

And what was that like?

Was it even before that ultrasound?

I don't think before that ultrasound.

I think during that ultrasound was when I started to have these feelings.

But I think even like before I, I started trying, I just was like nervous that it wasn't going to be easy just because of my experience with work and everything that I see and, and know about genetics on the field and trying to become pregnant and then having children.

So I just always, I always have in the back of my mind, of course, no one thinks that's going to actually happen to them, but I always have that in the back of my mind that this is a possibility that these types of things happen.

Not specifically what we went through, but just in general.

Yeah, and this pregnancy, you got pregnant through IUI?

Correct.

You received this diagnosis or potential diagnosis of bilateral club feet, which bilateral means both feet.

And from there, I mean that condition on its own, it can be fixed for a lot of people, right?

Exactly.

So that was a kind of our mindset that if this is isolated, like we'll deal with it, we'll get it fixed then.

And that's why usually kids do have isolated club feet.

They're fine.

They they fix the feet and and they're totally fine.

They have normal development.

They have no other medical problems.

And we're like, OK, it's obviously not ideal, but we'll we'll deal with it.

This is something that we were not going to do anything about.

But the scary part was what if this is not isolated?

And what if there are a lot of other things associated with it?

And that's what I was afraid of.

If it was isolated, whatever, we would deal with it.

But it was the if it was not isolated, that's what we were afraid of.

Yeah.

And I imagine in your line of work, you've seen patients where it does end up meaning that it's connected to something bigger.

Right.

And those are the only ones I see because the kids who are have it isolated, I don't see them because they're fine.

They don't have any problems.

There is no genetic, yeah, there's no genetic connection with anything.

I don't see them.

So it's the kids that do have problems that I see.

So my thought process is also like a little biased because of that.

These are the patients I see, the ones that have problems.

I don't see the kids who are fine.

Yeah, yeah.

It's almost like that double edged sword of knowledge, right?

Like, you know, so then you know, and then, well, it could be and really could be because you've seen these cases before.

Exactly.

That's really scary.

So from there, do you feel like your privilege or connection within the medical field helped you know which test to ask for or what the next step could be?

How was that did?

Did you have support in that process?

Yeah, so I immediately called all of my my Co workers and my colleagues and was like, because when you're in the moment, you're not I like, I know all this stuff, but you're not thinking about it.

So I just had them tell me everything, what the actual statistics were of it being isolated versus syndromic meeting associated with other things.

And I kind of went into that appointment before we even had the ultrasound, knowing that I wanted to have an amnio.

And so it was initially elective and then turned into, I mean, I guess it's always elective, but turned into like specifically for the club.

But so we went back, back to the clinic the next day we had an amniocentesis and it was like we're doing as much as we possibly can for the on the testing.

So that's, that's what we did.

That was our next step.

So you were able to advocate for yourself and find out from colleagues that a good next step would be an amniocentesis.

Yeah, which I knew.

It's just, I needed them to tell me like all the statistics of what, of it being isolated versus syndromic.

And I just needed to hear all of that and how common it actually is, how common it's isolated.

So even though from a medical standpoint, I I know this information, I can counsel a patient on it, but I needed to hear them tell me that in that moment.

Yeah, because in that moment, you're not the doctor, you're the patient.

You're on the receiving end.

And at least for me, I know that it was like the room was like dark and tunneling.

And then, you know, you're half hearing the words and you need to hear them again and you need to write it down and you need to look at it again.

Like it just doesn't.

The information doesn't go in in the same way as when you're like looking at a textbook and learning about the condition, of course, because now it's it's you.

It's your baby.

Exactly.

Before we continue on, if you need to talk to someone right now, e-mail me or book a call.

You don't have to figure this out alone.

You can find the links to e-mail or to book a support call.

Book a decision support call here in the show notes.

I'm here for this exact situation.

I want to hear from you again, see the show notes for the links.

So from there, what was that process like?

So the actual procedure I I personally did not think was a very big deal.

But of course it's the waiting for the results that's hard and scary because you're in this kind of limbo of what do we do?

And like what, what are we going to do once we get this information?

And the, we kind of had this, I'd had this time on in my head that like we'll get the initial testing back in like 2 weeks from the procedure and then the more expensive testing about two weeks after that.

So the initial testing comes back in two weeks.

So like we're just more between chromosome testing and that was fine.

And I, I said to the general counselor who called me with the results, I was like, I don't want to look at the results if everything's fine because we don't want to know the sex of the baby.

But in explaining it, because there was something that was like not a big deal, but it was something different on the report that he had to tell me about.

He accidentally told me the sex of the baby.

And like in the moment it was like kind of annoying.

But then like we were excited, we were happy, like it was totally fine.

And I was like, OK, like we got past these first two child.

Like now there's the more extensive tests that we're waiting for.

And in my head I had that that was going to come like 2 weeks later.

So that whole week that I was expecting it to come, I was like extremely anxious, like jumping every single time my phone rang.

But like we still like kept preparing for the baby because like what else were we supposed to do?

We were doing all the normal things that you would prepare for.

And then I found out that the test actually didn't even start yet when I thought we were going to get results because the cells were just growing extremely slowly in the laboratory, which unfortunately there's nothing anyone can do about.

They do their own thing.

But then I had a better idea of when the sample was going to ship to the other laboratory, just start the more expensive testing.

So then like that two week countdown was on again to get those results.

So then we again very anxious leading up to it, but we finally did get that call or I got that phone call with the results when I was exactly 23 weeks pregnant.

It was a Friday afternoon and also my husband's birthday when we received this information.

And I, I honestly don't remember much about the phone call, but I remember him telling me that it was a Genovo likely pathogenic in a, the gene Cat 6B, which means it's a new disease causing mutation.

And that it was an exon 18 of the gene, which is like a particular area of the gene and that it was predicted to be severe.

And I just also remember thinking that this gene sounded familiar because I'm, I was like, I'm pretty sure we have a patient with this gene, which we do, but it was just so crazy because there's so few patients reported, at least as of last year, it was less than 150.

And of course, we have a patient with this condition.

Wow, All the connections are pretty crazy.

You know, your husband's birthday and then also thinking to yourself, oh, no, I I recognize the name of that gene, even though there are, you know, A100150 cases in the world.

Yeah.

And how long did that process take?

So it was seven weeks from the amnio to when we got the results.

It was a very long time.

So we were like on edge, but also like preparing.

It was a very weird time.

And I think part of me was like very reserved.

I just like had a feeling that something was wrong because I, although we were doing things, I wouldn't like commit to anything.

We were like looking for a new apartment.

So I was like every apartment we looked at, I found something that was wrong with it that we like couldn't apply for and just like little things like that.

So I think retrospectively, I just knew that something was going to be wrong.

Yeah, I bet you see this in your practice.

I've heard about research that shows that the mother's intuition that there's something wrong, there's something wrong, almost always shows that there's something wrong.

Yeah.

So you were in that space.

It's definitely real, yeah.

Yeah, yeah.

And then it ended up, you know, being your worst nightmare come true.

You got the bad results.

And you said it was de Novo.

What does that mean?

Yeah.

So that means that it's a new genetic gene that was not inherited from me or my husband.

So it was a new change that was unique to the baby.

So it just happened in that merging of the sperm and a.

Yeah, either in that particular egg or the particular sperm cell.

Which is devastating.

Like you don't want there to be a genetic link in your genes or your partner's genes or wherever the sex chromosomes are coming from.

You don't want there to be a link, but you also don't want there to be a de Novo this new a new one either.

You don't.

You don't want any of that.

You don't want any of that?

No, no.

So what was the decision process like at this point?

Was it pretty clear since you work in the field or did you still struggle?

So it was, it was very clear to me as soon as I, while I was still on the phone, actually I was in my office when I got this phone call.

I went into the doctor's who I work with his office, he's a Genesis.

And we were both kind of looking over this, what this gene is, what it does.

And I remember looking up, I like for like a second, I like only saw the skeletal stuff and I was like, oh, maybe this isn't so bad.

And then I, like, quickly realized that it's associated with severe intellectual disability and like a lot of medical problems as well.

And he was just like, this is this is not a happy thing, which is what he says often when we receive a diagnosis for a patient that is not good.

And like, it was very clear that it wasn't good.

And one of the things I was afraid of with the genetic testing initially before we even had the ultrasound, was that like, if we come across something that's very uncertain and like, what do you do with that information?

But to me, this was very clear that this was bad and there was no possibility of this being good, especially with the particular change that the baby had.

And my husband and I had also talked before becoming pregnant earlier in the pregnancy.

Like we knew that something was found during the pregnancy that was severe.

We knew that we would end the pregnancy.

So we had, we just like in general, we had that discussion prior to pregnancy and early on in the pregnancy.

So it was very clear that like this to us, this was not something that was good.

We did not want our child to have to go through dealing with all these medical issues and developmental issues and we we knew pretty immediately what was going to happen.

Sounds like your knowledge in the field really helped you make a clear, logical decision at that point.

Yeah, because we, unfortunately I see these kids that have all these severe problems that don't walk, they don't talk, they have G tube, they have trigs like I, I see that.

And it's it's hard on the child and the parents and the whole family and it's it's not something we would want to put our child through.

Yeah.

And then from there, were you able to be seen within your Medical Group or did you still have to go to another state or another place or what happened next?

Yeah, so this was a Friday afternoon and.

Friday afternoon.

Exactly.

So we had to wait the whole weekend.

But I live in New York, so we're very fortunate that we live in a state that we had access to these medical services.

And while I didn't see, it wasn't like my doctor, it was someone in the hospital network that we saw that they were easily able to refer me to.

Like as soon as I said, like this is what we're doing.

Someone had their office call me.

Just set everything up for Monday morning.

So that part logistically was easy like that part because we, like I said, I'm in New York.

We were very lucky that we didn't have to travel anywhere.

I mean, I live in Manhattan.

I had to go to Brooklyn, which at the time I was annoyed about.

But after hearing so many stories of people having to travel very far, going to Brooklyn was is not a big deal from Manhattan.

And also retrospectively, I'm glad because I probably will never have to go back to those specific offices in Brooklyn since most of my doctors are all my doctors are in Manhattan.

So that in the time it was annoying, but it could have been a whole lot worse dealing with some of those logistical stuff.

So logistically it was very easy, which I'm fortunate that that is one part that we didn't really have to deal with.

Did you feel also emotionally cared for?

Did you get like, you know, lucky in that lottery as well?

Were they kind to you at the clinic?

Did they know like the bereavement things like getting footprints or holding your baby if you wanted to?

Yeah, so we, I thought the care team was very good.

They were very compassionate, very respectful and very understanding of what was going on.

The one like not good thing is like because it was I had AD and E so I was just like in the pre op for surgery of like everything.

So there were people there for like all different kinds of surgery.

So that was.

Oh, not even just not even just maternity, gynecological.

It's like the whole surgery ward.

Wow.

So there was just people.

Like.

Random, not random, but like any type of reason, it wasn't specific.

So like that was just one thing that was a little bit different.

But the like, doctor that I saw, she was amazing.

And we like started over the weekend.

We like told our family, we told our friends, our close friends and like everyone was very supportive.

I don't think anyone really knew what to say, but they were very supportive of our decision and we're there for us in any way that they knew how and could.

But yeah, I thought the care.

He was glad we were able to get the footprint because we had a DNA.

We were not able to hold the baby and I think that's something that I wish we could have been able to do, but a DNA was the only thing that they had offered to me.

I'm glad that you had the support of your community.

This is part one of two of Rachel's story of TFMR for a rare genetic mutation.

Tune back in in a couple days for Part 2.

If today's episode resonates with you, I'm here for you.

I want to hear from you.

If you're facing AT FM R decision or grieving after, you can e-mail me at sabrina@thetfmrdoula.com or book your support call on my calendar.

All the links will be around here in the show notes.

You don't have to go through this alone.