Primary immunodeficiency caregivers accused of medical abuse

As Rebekah Bouler drove her daughter to physical therapy one day last spring, her phone rang. The caller ID showed “Department of Children’s Services.” Bouler thought the call might be related to one of the single mothers that she supports, so she picked it up. Instead, the child protective services (CPS) worker told Bouler she wanted to speak with her about her own child.

Bouler quickly pulled over and took the phone off speaker, but by then her elementary school age daughter had already heard part of the conversation.

“That was the most traumatizing part, when they called me,” said Bouler. “The lady let me know that there’s been a concern called in about Abby. She couldn’t tell me what it was, but when she called, she was already on her way over to my house. She just said she had to see Abby that day. So, it was called in as a priority one concern.”

Throughout her childhood, Abby struggled with respiratory infections. Eventually, an immunologist confirmed she had common variable immune deficiency (CVID). But in the meantime, a school system representative filed a medical child abuse report against the Boulers in the middle of their daughter’s diagnostic journey.

“I've never been that scared in my life—ever, and I hope I'm never that scared again. Because that is your worst nightmare—the thought of how we don't have a diagnosis yet and we're doing everything we can to try to get our daughter help, including uprooting our entire lives and changing jobs,” said Bouler. Bouler quit her job to care for Abby and her husband transitioned his job to a new hospital system that could support both his career growth and access to better healthcare for Abby.

Medical child abuse and chronic illness

Medical child abuse (MCA), historically known as Munchausen syndrome by proxy, occurs when a caregiver repeatedly makes up or exaggerates a child’s medical symptoms or intentionally causes their child to become sick. The child undergoes unnecessary and potentially harmful medical evaluations, treatments, and hospitalizations as a result.

MCA is a rare but serious form of child abuse. Those charged with MCA face losing custody of their children, temporarily or permanently, and prison time. However, healthcare providers and other mandated child abuse reporters like teachers, sometimes mistakenly suspect MCA, leading caregivers to be falsely accused.

“Approximately 30% of children suffering from [suspected] MCA have been reported to possess true underlying medical diagnoses, which leads to difficulty in distinguishing legitimate medical concerns from those that are fabricated,” according to a report by a medical child welfare task force at a large children’s healthcare network.

Children with rare and chronic illness can raise MCA suspicions, especially during the diagnostic journey. Repeated trips to the emergency room, appointments with multiple specialists, changing doctors, unusual symptoms, extensive medical testing, and chronic school absences are all part of seeking a diagnosis. Unfortunately, they are also the red flags of MCA.

Falling under suspicion is not uncommon for caregivers within the primary immunodeficiency (PI) community, said Jodi Taub, LCSW. Taub is a psychotherapist specializing in chronic illness and rare disease who leads the Immune Deficiency Foundation Virtual Caregiver Support Group and Young Adults Group. She is also a patient who lives with CVID.

Taub said caregivers must navigate a fragmented healthcare system where doctors may not have time to coordinate care, and have limited time with their patients. Doctors may not recognize a rare disease but are increasingly aware of MCA, and caregivers’ efforts to find reasons why their child is sick can be mistaken for it.

“Another challenge is that primary immunodeficiency (PI) is not always recognized or considered during medical evaluations. Patients who do not have access to clinicians familiar with PI may experience additional delays in receiving an accurate diagnosis,” said Taub.

“The other component is that there's a power dynamic. If your doctor says to you, ‘Well, we're looking at these tests, we're not really seeing anything. I can't really explain it.’ It's very hard to push back on providers to say, ‘I think there's something more, please look.’”

Relationships with teachers, school nurses, and other educators can also become strained if the child racks up significant school absences, leading to concern by school officials about the child’s welfare. They may question why the child is getting sick so often and ask for diagnoses that caregivers don’t have yet. They may also question why the child sees so many doctors.

"Without a definitive diagnosis, it is more likely that providers may make assumptions," said Taub.

The Bouler family’s journey to diagnosis

Abby’s trajectory to diagnosis had starts and stops, with periods of infection and times when she felt well. She attended public school in kindergarten, transitioned to home school for first and second grade, and returned to the classroom in third grade. She had repeated strep throat infections, deep bronchial infections including pneumonia, flu three times in third grade, and random joint swelling.

“Our primary care provider suspected reactive arthritis, but rheumatology didn’t think that was the issue. So there's all this wishy-washy back and forth where you know your kid's not OK, but you don't know why or what's causing it,” said her mom.

In fourth grade, Abby displayed behavior associated with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, or PANDAS. When doctors drew blood during an active strep infection, they found Abby made no antibodies to the bacteria.

“So much of our struggle was because she is such a good kid and a people-pleaser. She wants to be seen as good and kind, and compliant. So even when she felt terrible, she was still trying and then coming home and crashing, but no one saw the crashes but us because she so badly wanted to be good,” said her mom.

An immunologist drew blood again and told the family to bring Abby in because her low antibodies warranted Ig replacement therapy. The official diagnosis of CVID came in April 2026.

The report of medical child abuse to CPS occurred in March 2026, before Abby’s diagnosis. Even though Bouler communicated regularly with the school about Abby’s medical appointments and health challenges, that didn’t prevent a report. The CPS worker told Bouler that the school listed many concerns including seeing too many doctors, missing school, having a lot of questionable illnesses, and a concern that Abby’s parents were convincing her she was sicker than she actually was. If the school system had taken the time to clarify some facts related to their concerns, the situation may not have progressed to a report, said her mom.

“I’m a reasonable person. I can understand why some things are red flags,” she said. “But, for example, when you are moving your child’s care to a big hospital, that should be the opposite of a red flag because all of the doctors can communicate about your child’s care and there is more transparency. But people don’t know that. They just worry about doctor shopping.”

CPS interviewed the family over a period of two visits and Bouler gave them access to all of Abby’s medical records. At the end of the interview process, CPS told the family they would submit their findings and contact them. A few weeks later, CPS closed the case but the family is not allowed to see the case details.

“They were very kind and they listened and they sort of put the whole picture together and were super understanding and let us know that they did not see any red flags,” said Bouler.

Navigating accusations

MitoAction is an organization that supports people with mitochondrial disease. CEO Kira Mann, said members of her community face false MCA accusations so frequently that the organization has resources, including a plan of action, for those navigating the charges.

Mann recommends families find legal representation. Counsel helps families respond appropriately to charges and prevents agencies from pitting caregivers against each other. Also, document everything, including conversations with clinicians, advised Mann. Keeping meticulous records protects families and provides a means of defense.

“Once that accusation is made and the ball is rolling, that is devastating. Unfortunately, the families are seen as guilty until proven innocent,” said Mann.

Families should also refrain from posting anything about their child’s illness on social media. Posts may be interpreted as attention-seeking. Instead, communicate with friends and family via phone, text, or email.

“Anything related to social media is fair game for investigators. It may make you seem like you are looking for sympathy, and it can be misconstrued in all different ways,” said Mann.

When meeting with clinicians, try to bring a trusted family member or friend along to the visits, recommended Mann. That person can listen and provide confirmation of what is discussed. Try to strike a balance and share only the information necessary in conversations with either clinicians or school officials.

“Families live in such fear all the time of fighting for their children and they worry, ‘Am I fighting too little or am I fighting too much?’ Everything they say is under a microscope and being over-analyzed,” said Mann.

“You are going into an environment that doesn’t understand the condition. You have to assume that everything is evidence, so you make your decisions based on that. You don’t want to put yourself in a situation where a conversation can be used against you.”

A form of medical gaslighting, being falsely accused of MCA leads to damaging emotional consequences for families. Caregivers are left questioning their judgement and feeling estranged from environments where they should experience support.

“Even when you get on the other side of it, families are deeply scarred. It’s hard to move forward from it, because the trust you have in a system that is supposed to be there and support you has been betrayed,” said Mann.

Bouler said walking into Abby’s elementary school building this year is difficult, but she looks forward to a more positive environment at the middle school she will attend next year.

“The whole experience makes you second guess almost every decision as a parent. I struggle with every time she has to miss school or even every time I have to take her to the doctor, even though I know it wasn't really the doctors that did this. There was a time that I felt like I wasn't getting the help from doctors that I needed to prevent this from happening,” said Bouler.

“So, after you've been not believed and your kid has been not believed, I'm still a work in progress and I don't know what it's going to take for me to get over it.”

Caregivers can benefit from mental health support for psychological distress and medical trauma. Individual therapy and support groups may be helpful.

“Parents may find opportunities for post-traumatic growth as they reflect on their experiences and recognize that their concerns about their child's health were valid. Despite potentially experiencing dismissal, invalidation, or humiliation throughout the diagnostic process, their persistence in seeking answers helped lead to a diagnosis. Recognizing this can help parents reclaim their narrative, find a sense of empowerment, and use their experiences to advocate for other families facing similar challenges,” said Taub.

Bouler wishes schools received better education about chronically ill children and rare diseases. A simple overview of what it means for families to navigate these medical challenges could prevent heartbreak, stress, and lasting emotional damage.

“If I could just somehow talk to teachers and tell them, ‘I understand why some things are considered a red flag. But, for families like us, with chronically ill kiddos, if you had more information, it could make all the difference in the world.’ The school employees don't know that they are doing anything wrong. They're not doing anything on purpose. But what can we do to make it so that this doesn't happen to somebody else a year or two from now?” said Bouler.