Last month, a prosecutor in the State of Washington charged Sophia Hartman, 31, with second-degree assault of a child and second-degree attempted assault of a child. She is accused of subjecting her 6-year-old adopted daughter to “medically unnecessary” surgical interventions and restraints.
The list of things Hartman is accused of doing included having the surgical placement of a gastrostomy tube, the surgical placement of a cecostomy tube, and the use of leg braces, orthotics, and a wheelchair. The charges reference the fact that Hartman had the child go to nearly 500 medical appointments since 2016 with various primary care providers and specialists throughout western Washington and North Carolina.
In a statement released by attorneys representing Hartman, they said Hartman’s child was diagnosed with the rare neurological disease alternating hemiplegia of childhood (AHC) by one of the few expert pediatric neurologists in the world from Duke University and by a neurologist at Mary Bridge Hospital in Tacoma.
“The child has been evaluated and treated by the doctors at Duke for three years. Contrary to the allegations of the King County Prosecuting Attorney, the child’s diagnosis was made by more than one doctor, is legitimate, and is based on a substantial record beyond the reports and information provided by Ms. Hartman,” the attorneys said. “That record includes independent medical examinations by multiple doctors, direct observation of the child by doctors and nurses at Duke and at Seattle Children’s Hospital, standardized testing results, video tapes of the child’s symptoms, MRI, EEG, and other diagnostic tests.”
Members of the alternating hemiplegia of childhood community are troubled by the case. They say whether Hartman’s daughter has the disease or not—they don’t have enough information needed to make a judgement on the case itself—they feel the prosecution and the media’s coverage of it are colored by the lack of understanding of an ultra-rare disease and what both child and parent must go through during its course. They want to clear up misconceptions that have been created by the case.
In fact, they note that none of the steps Hartman has taken to treat the child are out of line with what parents of children with the condition might do in pursuing treatment for the condition.
“A lot of families in the community think they could find themselves in a similar position because the circumstances described in the charging documents are not uncommon. AHC is a very variable disease. One minute things can be very dire. Then for days or even weeks, kids may be relatively fine,” said Nina Frost, executive director of Hope for Annabel and mother of a daughter with AHC. “Often severe events or episodes do not occur in a hospital setting. They may not be witnessed by doctors who are experts in the disease and able to identify them.”
AHC is an ultra-rare disease, affecting about one in a million people. There are approximately 300 patients with the disease in the United States, and approximately 1,000 worldwide. Symptoms vary, but can include temporary paralysis, painful muscle contractions, episodes of reduced consciousness, seizures, difficulty with muscular coordination and gait abnormality, motor and speech delays, autonomic system malfunctions, and behavioral issues.
What complicates the Hartman case is that symptoms can be transitory. At certain times they may be pronounced, while at other times patients can appear neurologically normal. With little warning, a child who seems fine can suddenly experience severe difficulty breathing, moving, or eating. It’s quite possible a doctor who is not familiar with the condition can examine a child and not see signs of the manifestations of the disease.
After repeated or prolonged episodes, patients can suffer from permanent regression and lose their ability to move, talk, and eat independently. It is an unpredictable condition. They may go days or even weeks without experiencing any symptoms until symptoms hit again. Many patients rely on interventions, such as feeding tubes, oxygen, or mobility aides. To address their delays and disabilities, many patients have attended physical, speech, and occupational therapy sessions multiple times each week, especially in early childhood.
Symptoms can vary between patients. Some children may experience infrequent symptoms, while others battle severe episodes of paralysis, seizures, or dystonia on a near-daily basis. Because of the rarity of the disease and the inconsistent nature of AHC symptoms, many children are not diagnosed or are misdiagnosed for years.
Advocates said that there seems to have been no effort by the media, the detective in the case, or doctors in Seattle in their reports to try to understand what the disease actually looks like for parents of a child with the condition.
Hartman has also been portrayed as someone who has thrown herself into the spotlight, another point that has been used to discredit her, but something that advocates say is common in the world of ultra-rare conditions.
“We have done everything that we can as a family to kind of put ourselves out there—hating doing it every minute, frankly—but we have tried to put ourselves out there to publicize Annabel’s case,” said Frost. “We’ve put out videos. We’ve had a big fundraiser. We’ve done all kinds of things because, while they kind of go against our comfort, they are what we feel is in the best interest for our daughter. In our case, we are raising money for various medical and scientific projects that we have to develop therapies.”
Representatives of the patient advocacy groups Hope for Annabel, Cure AHC, AHC International, and AHC Kids have jointly issued a statement to address misconceptions about the condition. They have encouraging people to view the AHC documentary Human Timebombs to gain an understanding of what living with the condition is like. They also have expressed concerns about Hartman’s daughter, who they have heard has had treatments discontinued.
“I think every parent is asking themselves, ‘What if this child has AHC?’ because if she does, taking her off all of her medications, taking her G-tube out, taking her intestinal tube out, taking her orthotics away, taking her wheelchair away—if all of that had to happen to my child, there’s a pretty good chance that she would have a bad episode and a very bad outcome,” said Simon Frost, Nina’s husband, who is president of Hope for Annabel and a director of Cure AHC. “There are lots of really good papers on that in AHC that show if you take kids off their medication, they have these very bad events quite quickly. Our worry as a community was that she might have one of these and either die or have a very serious change in quality of life.”
In the end, the advocates are being cautious because they don’t have access to the full facts of the case to make a judgement about Hartman, but they have reasons for concern about a fundamental misunderstanding of the condition that appears to be driving the case and that has been amplified in media reports.
“We don’t want to interfere if there are reasonable things that are in question. If there are problems that aren’t related to the nature of AHC, we don’t want to overstep our knowledge and insert ourselves and say, ‘This woman is innocent for sure’ because we don’t know enough medically about the situation,” said Nina Frost. “But we do want to present enough facts about AHC to say, ‘Hey, pump the brakes here. This is really a misrepresentation of the disease.’ And it’s a really biased outcome that we’re going to get here if nobody sets the record straight.”