A Missed Diagnosis that Turned Critical: A Family’s Fight for Answers

During Molly’s initial hospitalization, there were signs concerning a severe inflammatory infection, including a white blood cell count of around 29,000, elevated procalcitonin, fever, tachycardia, altered mental status, and the need for intensive care.

Molly remained in the ICU for several days, where she developed RSV, severe diabetic ketoacidosis (DKA), cerebral edema, and respiratory failure, but the physicians missed septic shock. Her HbA1c was approximately 17.7%.

Her high A1c level indicated that diabetes had been present for some time before hospitalization, but if you’re unaware of the symptoms, they can easily go unnoticed.

Before Molly’s diagnosis, she experienced weight loss, excessive thirst, and fatigue that, in hindsight, were consistent with diabetes. But at the time, the Murphys, who have no family history of type 1, did not realize how serious the situation had become. “Looking back, there were signs that something serious had been developing for weeks or months,” said Molly’s father, Shawn.

Mild symptoms can escalate quickly into a crisis, often with little warning—particularly in families without any history of diabetes, and in cases where early warning signs may not be recognized or discussed in pediatric care or schools.

The Dangers of DKA

DKA is a severe, life-threatening medical emergency that often develops within 24 hours—and can escalate in just a few hours without insulin delivery.

It occurs when cells lack insulin, forcing the body to rapidly break down fat for fuel, which creates toxic acids called ketones in the blood.

DKA Warning Signs

The red flags of DKA often mimic the flu in children and adolescents.

• Extreme thirst
• Frequent urination
• Unexplained weight loss or fatigue
• Nausea, persistent vomiting, and severe, cramp-like abdominal pain
• Rapid, deep, or gasping breathing
• Breath that smells sweet or fruity
• Sudden confusion, extreme drowsiness, lethargy, or disorientation

Was it Really Type 1 Diabetes?

Initially, Molly’s diabetes was treated as type 1 diabetes (T1D). However, over the following months, multiple autoantibody tests were repeatedly negative, and MODY (maturity-onset diabetes of the young) genetic panel was also negative. “This left us with ongoing questions about her classification and whether there may be more to her case than classic autoimmune type 1 diabetes,” said Shawn.

Since her discharge, Molly has remained insulin-dependent, but her case has been unusual: multiple type 1 diabetes autoantibodies (GAD65, IA-2, insulin antibodies, and ZnT8) have been negative, and genetic testing for MODY was also negative. Despite requiring insulin, she has maintained measurable C-peptide production, suggesting that her pancreas continues to produce some insulin.

Questions Still Unanswered

As time went on, Molly continued to experience a variety of health issues.

“We sought additional opinions and evaluations because we felt there were unanswered questions regarding her illness, her ICU course, and her recovery,” said Shawn. “We have always wondered whether an infection or other trigger played a role, and we never received a definitive explanation.”

One of the most difficult parts of the Murphys’ journey has been the uncertainty around Molly’s lab work.

“During the first several months after diagnosis, multiple important laboratory tests—including diabetes autoantibody testing—were reportedly lost, contaminated, canceled, or had to be repeated,” said Shawn.

“The autoantibody testing process stretched over approximately three months because of these issues. At one point, we were informed that another patient with the same name may have had laboratory work performed on the same day. However, we later received conflicting information about that situation.”

Testing later showed findings that included elevated inflammatory markers, elevated IgE, eosinophilia, positive occult blood testing, and other abnormalities that led the Murphys to pursue consultations with multiple specialists.

While diabetic ketoacidosis caused many of Molly’s secondary illnesses at the time of her diagnosis, it was never explained to the Murphys whether an infection triggered the DKA.

System Failure: When Gaps in Care Go Unchecked

Medical mistakes are an unfortunate reality that can stem from miscommunication, understaffing and human error. Parents need to become active participants in their child’s care to ensure safety.

Frustration mounted for the Murphys, and repeated tests made it difficult for them to be confident the results were accurate. They decided to seek additional opinions from numerous specialists.

In November, the Murphys hired a naturopath who discovered Molly had missed adenovirus, occult bleeding, intestinal permeability and cerebral edema.

“We were looking for other perspectives, not necessarily because we believed conventional medicine had failed, but because we felt there were still pieces of the puzzle missing,” Shawn said.

Over the past year, Molly has been evaluated by specialists in endocrinology, gastroenterology, immunology, infectious disease, pulmonology, rheumatology, allergy, and other fields where doctors identified various abnormalities, including elevated eosinophils, elevated IgE, positive ANA, elevated inflammatory markers, positive occult blood testing, gastrointestinal symptoms, and ongoing immune-related concerns.

However, no unifying diagnosis has been identified to explain all her findings, and no single physician has been able to connect the dots.

“Our frustration has not been with any one physician. Rather, it has often felt as though each specialist focuses on one piece of the picture while we continue searching for an explanation that connects everything together,” said Shawn.

At the same time, the Murphys continue to pursue answers regarding her gastrointestinal, immune, inflammatory, and metabolic findings, in hopes of a better understanding of what happened and to ensure she receives the best care possible moving forward.

“We understand that medicine does not always have clear answers, but as parents, it has been difficult watching our daughter continue to have unresolved issues after such a serious illness.”

Turning Tragedy into Awareness

Today, Molly, who turned 12 recently, is doing much better than she was at the time of her diagnosis.

Her blood sugar control has improved dramatically since her hospitalization, and she continues to live an active life. She still requires insulin and ongoing medical care, but she has shown remarkable strength throughout this process.

Her insulin therapy is multiple daily injections (MDI), and she wears a Dexcom continuous glucose monitor (CGM). “Her insulin requirements have remained relatively low compared with many children diagnosed with T1D, and she continues to produce measurable C-peptide, indicating ongoing insulin production by her pancreas,” said Shawn.

The Murphys continue to search for answers regarding the events surrounding her initial illness and some of her ongoing symptoms.

“My advice to other parents is to trust their instincts, keep detailed records, ask questions, obtain copies of medical records, and seek second opinions when something does not seem right,” Shawn concluded. “Parents know their children best and should never be afraid to advocate for them.”