S05 Ep05: The Breaking Point

Before we begin, a quick warning that in this show we discuss child abuse, and this content may be difficult for some listeners. If you or anyone you know is a victim or survivor of medical child abuse, please go to munchausensupport.com to connect with professionals who can help.
As 2019 comes to a close, Em, now 10 years old, is keeping up with her intensive gymnastics program, all while Sophie is taking C back and forth between Seattle Children's and Duke Medical Center in North Carolina. And her condition, according to this note in Sophie's phone, is dire.
Quote, This AHC and severe gastroparesis and autonomic dysfunction and intestinal dismobility is actually from the darkest pit in hell. But our citizenship is in heaven.
So we rejoice knowing this won't be her forever. Then the pandemic hits.
Mysterious pneumonia outbreak in Wuhan, China. A new type of coronavirus.
There are fears a rapidly spreading virus has reached Australia. This is a rapidly emerging situation.
The first U.S. case has been detected.
A number of affected countries has tripled. The World Health Organization has just declared that this is a pandemic.
In September of 2020, C is six years old and, like children everywhere during the pandemic, switches to virtual learning when the school locks down. A month into that school year, in October of 2020, Sophie writes a letter to C's school, which has a robust program for special needs students, explaining C's worsening condition.
She writes, Some new neurological, visual, and also endocrine issues have come up in the last few months,

and there is worry among the team at Seattle Children's for a brain mass.

She was recently diagnosed with central precocious puberty. Yes, she is in full-blown puberty,

which is why she has grown so exponentially and is maturing physically and looks like a teenager.

And the thinking right now is that there may be a brain tumor which is causing that. By the following month, Sophie would pull C out of school completely, saying that even virtual schooling was too much for her daughter to bear with her health.
On top of everything happening with COVID, Seattle, like many major cities, had large protests and civil actions around the Black Lives Matter movement, which saw a swell in support following the death of George Floyd in the summer of 2020. There was a new scrutiny on the deep systemic racism that permeates every institution in America.
And this was on Sophie's radar as well. This is where I'm going to get emotional because if the complaint is coming from this hospital, I am so like, I am so over Seattle Children's.
I have a call in a few days because they have this whole investigation going on with systemic racism. The investigation Sophie is referring to followed the resignation of a beloved Black doctor named Ben Danielson, who was the director of a clinic that served mostly Black and brown families in Seattle.

Danielson resigned in protest in November 2020,

saying that Seattle Children's wasn't upholding its commitment to racial equity in a variety of ways,

pointing to the lack of translation services and the frequency with which security was called on people of color.

This led to an internal investigation and the firing of at least one person in senior leadership. Seattle has a reputation for being progressive, but the truth is far more complicated.
While you're likely to see plenty of Black Lives Matter signs driving around town, the city has a shameful history of redlining, school segregation, and, well, just all of the things that plague every city in America. And of course, how this all intersects with medicine is especially complex.
The medical system is extremely fraught for Black Americans who get worse care overall and who died at much higher rates during the pandemic. This was the background in which Sophie's building tension with Seattle Children's Hospital was playing out.
But the ways in which systemic racism in medicine affect Black parents of Black children is not the same as how it plays out for white parents of Black children, as we discussed with our expert on transracial adoption, Chad Goler Sojourner. Chad is the Black adopted son of white parents and chronicles his own childhood medical odyssey in his one-man show, Sitting in Circles with Rich White Girls, Memoirs of a Bulimic Black Boy.
I assume when my mom advocated for me, I got the same treatment as if a white mom was adequate for white children. What I don't know, or the interesting case, is did I get better treatment than a white, you know, wasn't elevated.
So there's like... Because like they're looking at her as like, oh, not only is she a white mom, she's a white mom who did such a good job.
Exactly. And I don't know that.
Like a sort of halo effect a little bit. Interestingly, during this time, Sophie leaves Pursuit Northwest, the church that had raised thousands of dollars for her in a single day to help purchase a wheelchair-accessible van, and which, by all accounts, had been very supportive of her family.
The purported reason for her departure is that she was unhappy with Pursuit's response to the murder of George Floyd in the summer of 2020, and said that she no longer felt that the church was a safe place for her Black children. I don't know what the church's response was in the summer of 2020, so I don't have much of an opinion on it.
Their Facebook page from June of 2020 includes a post saying, Black lives matter to Jesus. Will they matter to us? As well as a post celebrating Juneteenth.
Now, a couple of Facebook posts don't tell us that much. There's also no reason to believe that an institution with this church's very evident political leanings, again, leanings that Sophie, by all accounts, shared, would have some kind of full-throated support for the Black Lives Matter movement.
I suspect that there may have been another reason Sophie might have wanted to distance herself from the people who she'd been close to at church. Her lies about C's health were about to come completely undone.
Prior to the pandemic, back in mid-2019, fears that something was very wrong in the Hartman household began to ratchet up, and the doctors at Seattle Children's Hospital began to track their concerns, making an initial report to the Department of Children and Families, citing, quote, a pattern of parental requests for increasingly invasive procedures based upon undocumented signs and symptoms reported by the parent. In a journal entry from this time, Sophie recounts her frustrations with Seattle Children's, writing, No matter if I advocate to my death in this very room, no one is going to listen well enough to change the approach to how we treat her.
People believe their eyes. That's something that is so central to this topic because we do believe the people that we love when they're telling us something.
If we didn't, you could never make it through your day. I'm Andrea Dunlop, and this is Nobody Should Believe Me.
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In February of 2021, as the pandemic reaches its year mark, the Seattle Children's Child Abuse Team makes an official report to the Department of Children, Youth, and Families, outlining significant findings of medical child abuse of Sophie's daughter, C. On February 18th, Detective O'Rourke from the Renton Police Department is assigned to the case.
And in May, Sophie is charged. And then the story hits the news.
Q13 News reporter Olivia Lavoie joins us live from the newsroom tonight with his exclusive details. Olivia.
Well, Aliana, this type of criminal case is extremely rare. And it began with a series of doctors who started to feel a local child was being given unnecessary medical treatment at the urging of her mother.
My name's Olivia LaVoice. I was a local news reporter here in Seattle and I originally broke the Sophie Hartman story.
I happened to be in the right place at the right time. I was at the Renton Police Department covering another case and one of them sort of said, you know, you might want to be on the lookout for a case that we're investigating that is i believe the way they described it was a case that's unlike any other which really intrigued me but i had i had no idea what to expect and i remember really trying to well, you know, I have to know what I'm looking for to some degree.
And the response I got was, you'll know. You'll know.
You'll know immediately. And so I knew that there was a search warrant involved.
So that was my way in. Olivia noted the high stakes of reporting on a case like this.
I mean, it just was so crazy looking at it from either lens, right? If she wasn't guilty of these allegations, if she was not doing what this search warrant was alleging, you know, how horrific. I mean, she seems like a saint, right? She seems like a saint.
So how horrible. On the other hand, if she is guilty of these allegations, that's just so crazy that, you know, she adopted these children and brings them to America.
I mean, just the whole thing. There were clearly several layers to the story that just made it seem almost unbelievable.
And the warrant was just the tip of the iceberg. The evidence collection included hours and hours of interviews, medical records and timelines from the hospital, and journal entries written by Sophie that were collected during a search of her home, several of which were excerpted in the investigative summary.

She allegedly had this journal entry

that talked about how she had an issue with lying.

This entry reads,

When it comes to suffering, I am a compulsive liar-slash-exaggerator.

To be cared for means to have significance.

Have to have it the hardest for it to be worthy.

I have looked through documentation for many medical child abuse investigations at this point in my career, and I have never seen anything like what's in this case file. The investigative summary alone, which is the detective's narrative of the investigation, is more than 250 pages long, and it reveals some of the most disturbing material I've seen.
In particular,

the narrative around C's impending death, which is just everywhere in the lead-up to this investigation. Many people recall Sophie describing C as terminal and making comments such as, C could leave us any time.
As the family becomes increasingly isolated during the pandemic, this fixation on C's death seems to grow.

In January of 2021,

Sophie imagined As the family becomes increasingly isolated during the pandemic, this fixation on C's death seems to grow. In January of 2021, Sophie imagines herself in the throes of grief over her daughter's death, writing to a friend, quote, Was thinking, if C died, I would call Cassie and make her come sleep in my bed with me while I cry my life away.
Such is the life of a medical mama, I suppose. The forensic examinations of Sophie's devices reveal that during this time, Sophie was searching for songs for sick kids and funeral songs.
Chillingly, Sophie had deleted the search history. These police records were overwhelming, so we brought in an expert to help us understand what we were looking at.
My name is Michael Lee. I'm a major crimes detective in South, Southeast Texas.
I started the National Crimes Against Children's Investigators Association, along with very successful child abuse prosecutors and investigators. And my job is to be an objective fact finder, to recognize patterns, to go get evidence, to compile all that in a format, in an organized fashion.
As Detective Lee looked through the documentation in this case, Sophie's pursuit of the escalating feeding interventions struck him. Yeah, when we talk about the elevation from, you know, like the NG tube to the G tube to the GJ tube to the TPN machine, right, and that whole track, that is a very context-specific type of behavior that we do see, right, in a pattern.
What we're really looking for is inconsistencies with what should be or inconsistencies between behavior A and behavior B, statement A, statement B. That's really the job of the investigators whenever they're working through this case.
The G-tube cases are the ones that track hardest towards death. They're the ones that in the medical literature, you know, when they talk about just how deadly this type of abuse is, the fact that it is arguably the most deadly of all types of abuse regarding children, that those are the cases that lead to it.
It's noted in the records that C knew a lot of medical terminology, and Sophie appears to have made no secret of her dire predictions for her daughter. In December of 2019, Sophie writes a letter to one of C's equine therapists, who Sophie seems to have grown especially close with.
Sophie describes a recent trip with C where she had many episodes, including some nearly full-day episodes. She writes, quote, We often talk about how someday in heaven she will have a new body and no more episodes.
She often says she just wants to go there and not have this body anymore. She always says she just wants to go where Jesus is.
The fact that she is telling the child things, that she is presenting these things from multiple angles is very indicative of this like psychological drive towards what we believe to be likely a child that will die or will be very close to death. It is not uncommon for these offenders to induce things, especially in their times of high stress and especially if they're being questioned about it, you know, especially if the child's making improvement, if there's a separation and then they go back with the mother, all of a sudden we got to go even harder, you know, on whatever medical emergency is fixing to arise now.
Right, to prove that the child is actually sick, right? Right. So it's like a counteraction.
So I think that all of the signs and symptoms are here for that. It's obviously a concern that she's pushing this child towards death.
What are you going to get more attention for, right? Since we know that this is primarily fueled by the seeking of attention and validation and support, and that's how they feel love and so forth and so on whenever they achieve those things. So they're filling a deficit, right? But whenever they engage in this behavior, what's going to get you more attention? A child with asthma, a child with a broken limb, or a child with cancer that's terminal, right?

What's going to get you even more attention than that when the child dies?

I mean, how much of an outpouring of sympathy, empathy, and everything else are you going to get?

Just an outpouring of love and support from people, right?

It's clear from looking at Sophie's social media from this time and reading her journal entries, how much being the parent of a child with AHC has become integral to her identity. There's a telling journal entry, which appears to have been written three days before Sophie's initial consultation with Dr.
Mohamed Makati at the Duke AHC Clinic. She and C made the trek to North Carolina after receiving a provisional diagnosis from Mary Bridge Hospital around the time that C turned three.
In her journal, Sophie opines on the fact that this prospective new diagnosis could actually be great material for her second book. Quote, Last night, Lord, I mapped out what could be another book.
My one in a million.

Jesus, this is my one in a million. material for her second book.
Quote, you? Could this be an open door you are putting before me? My one in a million road. I'd choose it over and over again, never choosing AHC, but choosing to hold my hands open to walk through the fire, knowing the fruit is worth it.
These private reflections are so disquieting because they feel so removed from C as a human. It seems to be all about Sophie.
And I think one of the scary things about this is, one of the hallmark features too, from a pathological perspective, is that the children of these mothers typically never, there's never a maternal bonding process that takes place between these kids and their parents. So, I mean, it even tracks even harder, I think, in this one, given the fact that this is a child that she adopted from a foreign country, brought her here.
And there's a lot of things just surrounding that whole process that really seemed very suspicious to me in and of themselves. But in addition to everything else that we're seeing, these are not, you know, this, for this person, for this not to be a criminal behavior, an intentionally afflicted abuse, there would be way too many coincidences, right, of all of these things happening.
And I think that's where we really have to, like Mike Weber told me one time, and I laughed so hard when he said it, because I know exactly what he's saying when he says it he said I don't care if the woman tells you that the sky is blue you need to walk outside and look up we used to say that exact thing about my sister Michael now of course most adoptive parents do feel very real bonds for their children and as detective Lee all alludes to here, some biological parents sadly do not. But the adoption just adds another layer to this picture.
And there was something pathological in and of itself about Sophie's efforts to keep adopting kids. There were the twins she mentioned in her memoir and a reported third sister of the girls from Zambia.
And then there were two additional adoptions that Sophie actually applied for that coincided with the police investigation. There's an element here that's actually not in the documentation that we sent you, but we've been able to confirm happened in this case.
During this process, while she was being investigated, Sophie was attempting to adopt two other children. She was attempting to adopt a child from Ghana with AIDS

and a child from China who had Down syndrome.

Yeah, crazy.

Yeah, and fortunately,

neither of those adoptions went through.

But I think with the sort of,

the escalating on one child

in the process of trying to bring

two other already very, very vulnerable children

into the home, that just strikes me as such a scary situation. Oh yeah, absolutely.
And especially because if she's caught a lot of scrutiny over whether this child has this condition or not, and the idea of making room for one or two more that have a legitimate diagnosis that is life-threatening in some way, right? Like, yeah, I mean, it tracks. Why not get rid of this one and get a lot of love and support from that? And then as our love tank is emptying, we bring those other ones in and we start this process all over again.
And it's a pattern of behavior. And it's like, listen, it wasn't even enough.
Like we got to get two more. We got to, we got to triple the amount that I'm, and we can say all day long, oh, it's because I have a heart for kids, this and that, and the other thing.
I've got four of them living in my house. You know what I mean? Anybody that's got kids knows that like, listen, if they're, if they're neurotypical with no problems medically, they're still really hard to deal with.
It's stressful. We need breaks from them.
There's things that have to happen in order for us to keep our sanity and still maintain a healthy relationship with our kids and with our spouse and so forth and so on. And so when we see people that are inviting these things into their lives, I think we really do have to raise a big question mark there.
We also wondered what Detective Lee made of Sophie's police interview and Sophie's claims that she understood her daughter's health better than the doctor's. She starts making claims like, for instance, she stated at one point, epilepsy doesn't look like this.
It looks like this other thing, you know? And, well, she's not a doctor, so you can't make a claim like that, right? But she's purporting herself basically, like she plays that role on TV. And I'm telling you, epilepsy doesn't look like that, just so you know.
It looks like this other thing. Now that's not as extreme of behavior because people will often think things.
You know, they'll have their own perceptions of what things are supposed to be based on what they've heard. But there's times that she really plays intentionally, like she is giving, she's saying a lot of real medical, heavy kind of literature lingo that she's throwing in the conversation to seem very, very knowledgeable, very, very.
And that in and of itself presented itself in her statement commonly in a specific pattern. That pattern is what we like to call excessive non-relevant details.
So the investigators ask her a question. There's a specific answer they're looking for.
Like, for instance, the question may be, so when did she get the AHC diagnosis, for example? You know, and she doesn't answer that question. Sophie's messages to friends and providers captured in the police reports are full of lengthy, complicated explanations of C's health.
And this is how Sophie reveals the AHC information to the detectives. This following a long explanation of getting the G-tube placed.
So we didn't get a firm diagnosis from the providers here at Mary Bridge. Basically, they were like, yes, this sounds exactly like what we're dealing with.
Because I'm explaining to them, and they listened to me at Seattle Children's. They were just like, you're crazy.
And I'm like, no, I swear. Like, ask anyone who knows her well.
Like, she'll be walking and moving around and talking. And then the next time I see her, she's not talking, not walking, and acting like she has sudden onset autism and you're like what is going on it's it just drives you bonkers so anyways we got paperwork insurance approval to get over to North Carolina where they have the clinic with the top specialist immediately when we got the genetic testing I was on the phone with him he's I mean the network of people is so small so they were like yeah we need to see her like clinically just from what you're saying over the phone it sounds like everything but we need to see her before right of course yeah so we flew and did their whole comprehensive clinic and um yeah so that diagnosis was confirmed it's confirmed clinically so when you went to do yeah uh because a lot of the stuff, right, you're seeing here at home, and then all of a sudden other people are going, I can't believe these things are happening, right? So when you were at Duke, was she, I guess, admitted and in there for a while so they can kind of see? So if there was an episode? She wasn't admitted, but, yeah, they saw it go in and out.
Like, I mean, and we go back, we haven't this year because of COVID, but we go back every year. And just, they basically do like four or five days of full clinic visits.
This winding road that Sophie takes the detectives down is very hard to track. And this stood out to Detective Lee.
She could say, oh, well, she got it in September of whatever year at this place, right? A specific, that's a direct answer.

That's what we would expect a truthful person to do.

Instead, she takes us on this long journey where she has to predicate everything that she's about to say by taking us through this whole medical journey. And now she's throwing out medical lingo.
and she's really kind of encapsulating this very, very muddy, confusing medical picture

in the way that she feels like it to us, like she answered that question. There was no answer in that.
The problem is with these types of interviews is that law enforcement are often doing these cold, like they're being brought into them with very little information or not all of the information, especially in homicide cases. They're, you know,, they get called to a dead body, right? And they have to go in and, hey, did you do it? What happened here? They're asking these kind of questions.
They don't really know the facts. And the idea there is to kind of like nail down a story.
And as we go through the facts and the forensics on a homicide scene, we may be able to ascertain, you know, how much of what they said aligns with the evidence, right? And that becomes the discrepancy there is the thing that's relevant. But I think one of the big red flags that we have to have is, you know, if we have a child and let's just say apart from mother, I offer her a little hostess cupcake and you want this? And she's like, yeah, I want it.
And she eats it. We immediately have have a problem that's a discrepancy between the two if I can see her if I can observe her and I see that there's no indications of this even if we do some legitimate test for it and it doesn't align with the thing that mom's saying I mean mom had during her interview with the police officers she literally told them that she was telling the people at Seattle Children's, I feel like you want me to force this child to have a certain reaction, a certain symptom that presents in front of you, even if it takes harming my child to do so, just so that I can prove to you that what I'm saying is true.
I mean, that, that was one of the most loaded statements of that entire interview, just chock full with great indicators that we have to look in in behavior and like psycholinguistics, right? But she's giving these things to us. She's telling us.
It's not abnormal for a provider to not have seen episode right yeah because i mean that's like you know if you go to the doctor once every three months do they see every sniffle or every ache or pain that you've had like no they don't and so that's what's so frustrating is just like the pressure that seattle children puts on me to prove episodes over and over and over like in in our last inpatient stay, I cried to the neurologist and I said, I just feel like you guys want me to make her go into episode. Like it feels like you want me to do whatever it takes, even if it means hurt her or do something like to trigger her.
Like they will literally be like, let's bring up physical therapy. And make a bunch of noise.

And me be like.

Okay.

Like.

Or even on her EEGs.

It's like they.

I tell them.

I'm like.

If she's laying in bed on a video EEG.

She's not being exposed to triggers.

So be prepared.

If that looks normal.

It doesn't mean what her experience is.

Is normal.

Like if you have a broken leg.

And you're not walking.

You're not going to see the type of pain.

That if someone told you.

Go walk on it. Like, you're just not.
Immediately following this police interview on March 17th, 2021, Sophie is served with a residential search warrant and C and M are placed in productive custody. C is then admitted to Seattle Children's for observation, and M is placed in foster care for a brief time before being released to the custody of her aunt and grandmother, who flew out from Michigan to be with the family.
In the meantime, the detectives had the unenviable job of combing through the piles of medical records C had amassed in her short life. Within these records, some of C's issues, such as the precocious puberty concerns or the alleged diagnoses of autism and cerebral palsy that Sophie mentioned in other places, are unrelated to her AHC diagnosis.
All of the most serious health complications, the days-long episodes of paralysis, the severe gastrointestinal issues that required multiple surgeries, these all hinged on C's diagnosis of alternating hemiplegia of childhood, which Sophie claimed that the doctors at Children's just didn't understand because it was so rare. We wanted to understand AHC better too, so we reached out to Dr.
McCotty from Duke for an interview, but he declined.

Our researcher Aaron found another doctor who is also a well-regarded expert who originally

agreed to an interview, but then somewhat mysteriously pulled out. Because of the

rarity of this diagnosis, there are only a handful of experts on it in the country.

Thankfully, our third attempt turned out to be the charm. I'm a mom on the go in my 40s.
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I'm Dr. Mary Zupontz.
I am a pediatric neurologist and epilepsy specialist. Dr.
Zupontz has an extensive background in clinical and research work around AHC and is a co-author on one of the most significant studies on the condition, along with Dr. McCotty from Duke.
Dr. Zupontz started her work with AHC over 30 years ago.
So could you tell us a little bit about what this disorder is and what are the signs and symptoms. It seems like this is a relatively newly

discovered diagnosis, right? If you were sort of talking about back in the 1980s, when you first came across it. Well, it was first described in 1971 by Verrett and Steele.

And then Dr. Jean-Ecardi and several other, Dr.
Anderman, Dr. Silver, Dr.
Bourgeois began recognizing that these children were separate from children with epilepsy or children with migraine headaches. So the current estimation is that one in one million children have this disorder, but I think that's an underrepresentation because I think children who eventually grow up to be adults are misdiagnosed, remain unclassified, and so their families go on this diagnostic odyssey to try and figure out what's going on.
And so I think that's a minimum. I think they're probably.
And we know as this, as we've begun to understand the genetics of this disorder, that there are very many variations on the theme. And that the manifestations can range from mild to severe.
For parents of children with this diagnosis, it can be extremely difficult to get to the bottom of, and it's often mistaken for something else. So onset of symptoms before 18 months of age, typically by three months of age or at birth, repeated attacks of hemiplegia, which is paralysis or weakness on one side of the body.
And then accompanying other, what I call paroxysmal disturbances. That means they're there sometimes and other times they aren't.
And that can be dystonic spells, which are episodes of stiffening that can involve one side of the body or the other. They can really mimic seizures.
You wouldn't know that they weren't seizures unless you probably did EEG monitoring. And then what ACARDI added as one of the diagnostic criteria is episodes of bilateral hemiplegia that can either start with weakness on one side of the body and then spread to involve the other.
When you have episodes of

weakness on one side of the body, oftentimes you're awake, alert that children may cry or be fretful. And then what's really interesting about this disorder is there's an immediate disappearance of all the symptoms when they go to sleep.
So our first treatment often was just get these kids to sleep. And we used, in the past, we used chlorohydrate to do that.

Sometimes you can use Valium-type benzodiazepines.

And then when they wake up, the episodes may recur, but it takes about 10 to 20 minutes.

C had been prescribed diazepam, which is a

benzodiazepine, as well as a medication called baclofen and a number of others. Each individual child, the parents identify what the trigger is.
Oh, you can't get them excited because they're going to have an episode. Or if you put them in the bathtub, they're absolutely going to have an episode.
Or so environmental triggers, very, very common. Some water exposure, sometimes exercise like vigorous exercise on a playground, sunlight, flashing lights.
I haven't encountered this, but evidently certain types of foods can sometimes trigger the episodes, but every patient's a little bit different. Welcome to Pro Tips for the Pros, brought to you by Florin Decor Gilroy.
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Visit Raisin.com and start saving smarter today. AHC sounds like a disorder that, especially if it's severe, could make daily life extremely challenging for a child.
The road to an AHC diagnosis can often be lengthy for families. But luckily, with advances in medicine and science, the process has gotten a bit more precise.
Here is Dr. Zupontz again.
My first patient, the one who near and dear to my heart, really, I followed her for over 25 years. At that time, this first patient, we didn't know what the heck we were dealing with.
And one of my residents, who is a doctor in training, said this has got to be a seizure. Because the episodes lasted fairly long, we just took her up to an EEG.
And as opposed to an EEG, which is an electroencephalogram, so their electrodes glued in a specific array on the head and the scalp. And if you look at the brain waves, if it's a seizure, you can see what we call spikes.
But in her case, we didn't. We saw slowing over one particular hemisphere.
And you may know that the right side of the brain controls the left side of the body and vice versa. So she, I forget which side it was.
It doesn't matter. Let's say she had left-sided weakness.
We saw right hemisphere slowing. C underwent a number of rounds of EEG testing, both at the hospital and at home.
And Sophie tells the police in her interview that C's last EEG recording showed slowing in her brain. Slowing in her brain? I was asking the provider, like, what's the best therapy or treatment for that? And he actually said therapeutic movement.
And I was like, I could have told you that. Like many disorders, AHC is diagnosed using a variety of tools, EEGs, as Dr.
Zupans mentions here, genetic testing, and crucially, parent reports. Actually, I think parents are the most astute observers.
And I always make it a point to really listen carefully to what parents are saying. Their observations are usually spot on.
The way the family interprets them or the way the health care provider interprets them may be a completely different story. According to Sophie, the main problem was that Seattle Children's didn't understand AHC, and so they didn't see what she saw.
I'm not super happy with our care at Seattle Children's. We are struggling because I just don't feel like they take things seriously.
Also because my daughter appears to have a pretty severe but episodic condition, And the problem is that if I can't get her in that day, then they don't see what I'm talking about. This sort of diagnostic odyssey that many parents go on trying to get to the bottom of this.
And I wonder if you could sort of tell us what that often looks like and also sort of, yeah, establishing, like, what are the things that they get misdiagnosed with sounds like epilepsy is maybe a common one um or sort of they get put in a like question mark rare neurological disorder bucket well i i think at least now people are child and child neurologists in particular are more aware of this diagnosis. But, you know, in the beginning, the provider would probably, yes, notice maybe these eye movements.
Maybe we should have them see an ophthalmologist, for example. Let's check out and make sure their vision is okay.
Or, yeah, they're a little low in tone, but let's give this baby a little time to grow and develop. So they may downplay the symptoms in the beginning, and it takes a while to get into an ophthalmologist.
Then by six months of age, these episodes of weakness are commonly misdiagnosed as epilepsy. And so the patient that I first had had been on probably six anti-seizure medications before she came to see me by well-meaning, well-intentioned child neurologists who none of us were familiar with this disorder at that time, but in their defense.
And they had never captured an episode on EEG. No clues there.
In the past, we would have just said, well, now we have video EEG monitoring where you can hook a child up to this EEG and monitor them for 24 to 48 hours. Hopefully getting the parents to precipitate an episode.
Because remember I said each child has their own precipitating factor. That's where the diagnosis then becomes even more muddy because they'll say, well, this isn't seizures at all.
They're just showing slowing over one hemisphere. What is this? That's when a child and their family get referred to a tertiary care center.
These episodes, if they're captured on imaging, look very different than epileptic seizures. And it would be also partly like the parent report of they're not having a seizure preceding the spell of weakness.
It's just the spell of weakness is happening sort of spontaneously. Yeah, I think getting the history is key.
My mentor, Dr. Chen, I was the vet.
if you don't get a good history, you're like a nomad wandering in the desert. And so the history is the key.
There is a gene marker for AHC, but there's some complexity around this piece. The trick is which of those abnormalities are clinically significant.
And so I often rely on consulting with my genetic counselor and geneticist to say, let's do a deeper dive. So oftentimes you may get exome sequencing and reveal a genetic abnormality, but then you want to know what the parents, the true biological parents,

and that opens up a whole nother Pandora's box because some people think the father is so-and-so. I mean, usually you can identify the mother, but the father may not be the father.
and so it it but you have to look at sometimes the whole family and say, is this the same mutation? Is this mutation located in an area, in a gene that's going to code a protein that actually changes the function of how the cell works? And that the parent has that same mutation and is genetically normal, then it gets even more nuanced. So it's very complex.
If you didn't track all that, the bottom line is genetic testing is extremely complicated. According to police reports, Dr.
Mohamed Makati from Duke University Medical Center stated that C's AHC diagnosis was clinical. Here is a quote from that piece of the report.
Dr. Makati advised that CH does not have the genetic mutation that specifically indicates AHC.
The clinical diagnosis is based upon the reports given only by CH's mother. The absence of the genetic marker for AHC is something that Sophie acknowledges in her interview with the police, though she appears to frame this as something that makes her daughter's illness even more rare and special.
In a journal entry, Sophie recounts reaching out to a board member of the foundation dedicated to curing AHC about her daughter C's genetic testing, which had come back as likely benign. She tells him that C's AHC diagnosis is nonetheless not up for debate,

and declares that C might lead to a breakthrough in the understanding of the disease itself,

which she seems pretty jazzed about.

She writes, quote,

Lord, could this be my harvest?

My compassion leads to miracles. One in a this actually, this is a nice time to kind of bring it back around to this kind of sense I have always in talking to doctors, which I love talking to doctors, you know, of medicine really being both an art and a science, right? Like of really that human piece of medicine.
You know, I think so often people think about like, oh, technology, and it's so exciting. You've seen those things come a long way, especially with these kind of neurological things, I'm sure.
And then at the end of the day, like there still is just the doctor sitting in a room talking to a patient or talking to a parent. And you mentioned, you know, how important getting that history from a parent.
So it sounds like AHC, much as most things, is still very much about those conversations and that history and the observations of the parent. Right.
It's still a clinical diagnosis. Because you can have alternating hemiplegia of childhood and not have ATP1A3 mutation.

To me, that's where medicine is so fascinating. I mean, I've been a doctor since 1979.
Trust me, we're not very many women physicians. We didn't even have CT scans.
We didn't have MRI scans. You had to be a good listener.

And if you didn't get it from the history, your physical examination,

that was unlikely to contribute as much as you'd like to think.

The history is the key.

As is so often the case, the story of the child's health was the most important factor in determining her diagnosis.

We know a lot about the story Sophie was telling about her daughter's AHC.

That it was severe and so limiting that she couldn't participate in many regular activities.

That she couldn't even attend school.

That she would likely die very young.

But what was the truth? Next time. It seems to me that if an episode was going on that long, that there would be a hospitalization during that period.
Oh, I would. I would, personally, yes.
So if it's just continuous and invariable, that would make me question. I'd want to get more details about that mystery.
Nobody Should Believe Me is written, hosted, and executive produced by me, Andrea Dunlop. Our senior producer is Mariah Gossett.
Story editing by Nicole Hill.

Research and fact-checking by Aaron Ajayi.

And our associate producer is Greta Stromquist.

Mixing and engineering by Robin Edgar.

Administrative support from Nola Karmouche.

Special thank you this week to Detective Michael Lee and Dr. Mary Zupontz.