Hosted by Erica Jolene and Kristyn Newbern | Transcription HERE

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Luke is very intrigued by engines and he loves learning how things are built, connected, and the ways in which all the parts work together to function as a whole. Like the engines that Luke loves exploring, his rare condition involves a lot of interconnected and moving parts. Unlike the instructions or manuals that one might receive with engines and lego sets, there are no manuals or instructions for how to build the best parent for a child with a rare disease. Today we learn more about Luke's complex medical journey, as Kristyn shares her experience navigating his rare diagnosis. Not only did Luke's diagnosis involve many interconnected and moving parts, so did Kristyn's evolution into life as a mother and caregiver to a child with complex medical conditions. In this episode, we touch on the challenges of that evolution, as we share some of the lessons we have come to learn and some of the beliefs or assumptions that we've had to unlearn.

Links related to this episode:

Congenital Heart Defects

Coarctation of the Aorta

Ventricular Septal Defect

Noonan Syndrome

Episode Transcription

Kristyn 00:01

What are the parts of a car engine?

Luke 00:05

I don't know.

Kristyn 00:07

There's the gears.

Luke 00:10


Kristyn 00:11

What else?

Luke 00:13

The pipes.

Kristyn 00:15

The pipes...and the pistons.

Luke 00:16


Kristyn 00:17

And what else?

Luke 00:19

The engine.

Kristyn 00:22

The engine.

Luke 00:22

And the gears. More gears in there. There is so many gears in there.

Kristyn 00:29

They're all turning, helping each other to turn.

Luke 00:31

Uhhuh. They're all connected and then, and go go go. Superfast that makes them go go fast. But when they un-connect, all of them un-connect, it makes the car stop and turn and crash!

Erica 01:07

Welcome to Season Two of Atypical Truth. I'm your host, Erica Jolene. Humans are storytelling beings. I created this podcast to amplify the stories of people in my community, the community of people with rare diseases, disabilities, and complex medical conditions. Not only will you hear from my peers in this community, but you will also hear the stories from family, friends, and professionals who advocate with us. In last week's episode, we got to meet the Newberns. Well, primarily Kristyn and Luke. Kristyn is a fellow medical mom to her son, Luke, who is that sweet little voice that greeted us today. Luke was born with congenital heart defects and later diagnosed with a rare genetic disorder called Noonan Syndrome.

Erica 02:01

When Luke was asked how he wanted to celebrate a recent trip to the doctor's office, Kristyn expected the stereotypical little kid answer of, I don't know, getting ice cream or going to the park. Instead, Luke stated that he wanted to open the hood of her car to check out the engine and all of its parts. You see, Luke is very intrigued by engines and he loves learning how things are built, connected, and the ways in which all the parts work together to function as a whole. Like the engines that Luke loves exploring with all the gears, pipes, valves, belts, and wires; Luke's rare condition, it involves a lot of interconnected and moving parts. And today, we're gonna learn more about Luke's complex medical journey, as Kristyn shares her experience navigating his rare diagnosis. Not only did Luke's diagnosis involve many interconnected and moving parts, so did Kristyn's evolution into life as a mother and caregiver to a child with complex medical conditions. In this episode, we touch on the challenges of that evolution, as we share some of the lessons we have come to learn and some of the beliefs or assumptions that we've had to unlearn.

Kristyn 03:37

He has a very rare genetic mutation that was caused, actually by a very recently discovered genetic variant. That sounds a bit complicated, and actually, his diagnosis isn't nicely packaged enough to have just a, an independent name, because it was so recently discovered. But most people when they meet Luke, or if they know Luke, they know about his heart journey, because that's been the most invasive and frankly, life-threatening part of his medical genetic diagnosis. So Luke was born with two congenital heart defects. The coarctation of the aorta, which it's a narrowing of that little loop on top of the heart, kind of important, that's the part that pushes all the blood out to the rest of your body. And then he also was born with a ventricular septal defect, or a VSD, which is a hole in the middle wall of his heart. So even though Luke was born with two congenital heart defects, or CHD's, he has had five heart surgeries to date. So two to repair those defects and actually two emergency open-heart surgeries that were unexpected, but resulted from complications from the repair surgeries. And then most recently, he had a pacemaker put in after complications from the most recent open-heart surgery that resulted in heart block.

Erica 05:16


Kristyn 05:16

Whew! So that is, in a nutshell, the summary of Luke's heart journey to date. But that heart journey is really only part of an overall diagnosis. So in 2018, that was when we came to the discovery of Luke's genetic diagnosis after a long and seemingly meandering journey of specialists and tests and inconclusive results. And everyone agreeing that something was going on, wasn't just the heart, the cardiology stuff, it was there was something more. He wasn't meeting these gross motor milestones or some of these fine motor milestones. There were abnormalities that were not consistent with just his CHD's. So in late 2018, we actually ended up doing a whole-exome sequence, which is basically a genetic test that has every single genetic variant known to science. So that test came back showing us the genetic mutation that I described earlier, which was only discovered in 2015. So just three years prior to us doing this test. It doesn't have an independent name for the diagnosis, but it has been associated under the Noonan Syndrome umbrella. So everyone wants to everyone always wants a name, right?

Erica 06:51

Ummmhmm. Yeah. (both laughing)

Kristyn 06:51

We always, we always think that that means that there's the answer. So...

Erica 06:58

We have a very similar situation with both kids and people always ask, "So what is the name?" And I'm like, "Well, it's, it's not so much about the name it is that it falls in line with this other group of known variants..."

Erica 07:11


Erica 07:12

"...that you may recognize." Because even if I had told them a name, since it's so new like for our kids it's the only one that we know of, they wouldn't know the name even if I told them.

Kristyn 07:24

Right. And I think that need....Well, first of all, we love our labels, right? We love to know, for ourselves for others, just so we like all of a sudden you're in this box, we understand you and we know what's what you're going through. So I totally empathize with that, because that's what we were seeking as well. We wanted and not only a label, but we wanted a prognosis. Right?

Erica 07:49


Kristyn 07:50

That's why parents seek out a diagnosis. That's why it's so terrifying to not know. Sometimes even more so than when you get bad news. If that makes sense.

Erica 08:02

Yeah. It's a weird thing to celebrate the prognosis, to celebrate putting the label on something.

Kristyn 08:10

It's so true. So we kind of got a half answer, if that makes sense. I mean, it's scientifically miraculous that we, that Luke was born when he was born. And we were able to come to this diagnosis. But at the same time, since it was only discovered in 2015, there are so few recorded cases, certainly no long-term studies. And so a prognosis really is not available for us. We have kind of an umbrella of different cases and things that we might be looking for or that might come up that are related to other kids and adults with Noonan Syndrome. But since his variant is different than most of the variants that cause Noonan syndrome, it's always kind of an asterisk by his name, if that makes sense.

Erica 09:06


Kristyn 09:07

So, Luke, his other medical challenges include low muscle tone, low muscle strength. He has shorter stature. So if you saw him walk into a room, you might guess he was maybe three, rather than four and a half. Otherwise, really, you might not even know he has a disability if that makes sense. He unless he were climbing stairs or trying, you know, kind of sitting down and standing up again, he does that at his own pace, and things just look a little bit different for him in that category because of the low muscle tone and low muscle strength. Through physical therapy and occupational therapy, that's how we've really been addressing his gross and fine motor delays and development.

Erica 10:12

Diagnosis Day. Diagnosis Day is a term many of us in the medical community use when referring to the day that a diagnosis is received. No one ever expects, nor the prepared for diagnosis day to happen during a routine ultrasound. For many families, that ultrasound and anatomy scan, and marks celebratory halfway mark and pregnancy. It is this very special and memorable moment for many people. One that is often depicted in movies and television, because it's typically the first time you get to see your baby in motion. We all expect to leave this appointment with our hearts full of excitement, our minds racing with ideas for the name, and Pinterest pages, filled with ideas on how to decorate a nursery. What you don't expect is to leave that appointment with your child's life-threatening diagnosis in hand. No one ever expects to leave that appointment with a head full of fear, a heart full of ache, and no idea what the future holds. Kristen and I, we both have children who were born with serious life-threatening conditions and our experiences were drastically different for many reasons, but one prominent difference started at that anatomy scan. It was the difference between knowing versus not knowing about a congenital diagnosis in advance.

Erica 12:05

You learned about part of this diagnosis, that you've previously described in our personal conversations as being like one of many moving parts, one of those more prominent parts being the CHD. You found out about that while pregnant, correct?

Kristyn 12:24


Erica 12:25

Wow, what was that like? Because here's the thing, the grass is always greener, right? Like,

Kristyn 12:32


Erica 12:33

I've often thought things would have been so much better, maybe we would have been more prepared if I had known while I was pregnant with certainty that something was wrong with Margot. Or with certainty that Margot had some atypical developments, you know, something? So again, the grass is always greener. And I'm just kind of curious, what was it like to be given that diagnosis while pregnant? What was that like for you?

Kristyn 13:01

Well, I guess just my initial reaction to your story and your experience with receiving, you know, with all of that hitting you like a ton of bricks after giving birth; I mean, I'll agree with you 100%, that, if I had to pick, I would absolutely pick learning ahead of time and being given at least just a moment when I wasn't a brand new mother to understand or do some research or sob into the steering wheel uncontrollably. You know, I would say with 100% certainty, the more of these diagnoses that we as a society can support, you know, through research and funding and anything like that to give parents more time to prepare. That's something that I don't think there's any, there's any argument against. So I would plug that, for sure.

Erica 14:10

You said a keyword in that which is support, there are things that you likely received that were really beneficial for you in the healing process of this. Things like the Fetal Care Institute and just having a team established and ready and knowledgeable on your history. That is priceless. I mean...

Kristyn 14:30

Yes. 100%. I couldn't agree more. I mean, I will, I will not sugarcoat it. I still remember every single breath of that day that we found out. You know, I remember it being a Friday afternoon. I remember being 29 weeks and two days pregnant. I remember walking into that Fetal Care Institute thinking that we just had to get some more cute pictures from the anatomy scan because he was in a weird position at the 20-week ultrasound. And I mean, you want to talk about ignorance, and not knowing what I was walking into. And I would even say I felt like I walked into that appointment, a different person than walking out of that appointment if that makes any sense. So it wasn't this beautiful, nurturing experience that I felt like, "Oh, yes. And now I have all the tools that I need to continue down this path." I will forever say that there were seven words that split my life into two parts. And it was that Fetal Care Doctor walking in and saying, "there's something wrong with your baby's heart." And then everything, since that sentence has been kind of part two of my life, and the start of my life, as a medically complex mom. And I will also say too that no amount of preparation will ever prepare anyone for the experience of living that life, of being in it. So I mean, I was probably two heart surgeries in before I really understood what was going on, and what impact this would have on the rest of Luke's life and my life and everyone around us. So it's not necessarily that like being pregnant learning that diagnosis, or at least about the heart, that I was, you know, completely prepared or equipped. But I felt like we were supported. And that's, that's so important, and any effort to help other parents feel supported, going into battle...because it is; I think, I think those are valiant efforts that need to be supported.

Erica 14:54