The Trouble with Diagnosing Mitochondrial Disease

Credit: Rollingstone.com

As one young woman discovered, diagnosing mitochondrial disease isn’t as easy as diagnosing other medical conditions, like cancer or diabetes. There is no definitive test for the disease, especially in its early stages. Doctors just have to trust that the patient is telling the truth about their symptoms. In some cases, doctors believe that the patient has a psychiatric condition. Rather than diagnosing mitochondrial disease, which requires highly sophisticated testing and expertise, they will send them to therapy instead.

Diagnosing Mitochondrial Disease: Justina Pelletier’s Story 

That is exactly what happened to 15-year-old Justina Pelletier. In 2012, she noticed a number of alarming symptoms, including sharp stomach pain, digestive problems, slurred speech and trouble swallowing food. Her parents took her to Tufts Medical Center, where metabolic geneticist Dr. Mark Korson evaluated her. He suspected that Pelletier had mitochondrial disease, a rare genetic condition that causes a number of neurological problems, including weakened muscles and, if left untreated, dementia.

After receiving this working diagnosis, Pelletier started taking medications to treat mitochondrial disease. However, in February 2013, her stomach pain got worse, and she was hardly able to speak. Her parents immediately took her to Boston Children’s Hospital for treatment.

Rather than diagnosing her with mitochondrial disease, as Dr. Mark Korson had done, the Boston Children’s Hospital staff said that Pelletier’s condition was psychiatric in nature. Her new doctors decided to take her off of her mitochondrial medication entirely.

Mounting Controversy 

Minnesota governor Mark Dayton signs Leo’s Law, designating “Mitochondrial Disease Awareness Week”
Credit: wikimedia.org

Her parents were shocked and angry over the new diagnosis. They had seen how much pain their daughter was in, and they were worried that taking her off of the medication would only make her symptoms worse. Her parents refused to follow the hospital’s treatment plan, and tried to leave the hospital with their daughter.

A security guard stopped them, and Boston Children’s Hospital accused them of medical child abuse. Staff claimed that Justina Pelletier’s parents were treating their daughter for a disease that she didn’t actually have and requested a court order to take emergency custody of her.

The state granted the request, and the hospital transferred Pelletier to their psychiatric ward, Bader 5. Although she began receiving psychiatric treatment, her stomach pain worsened significantly. In addition, she alleges that the hospital staff would leave her to sit in hallways or bathrooms in her wheelchair for hours. She also stated that her toenails were pulled out because her feet dragged on the floor whenever the staff pushed her wheelchair.

When Pelletier eventually told her parents about her treatment at the hospital, they hired a lawyer and began the long legal process of regaining custody.

Online Protests Lead a Hacker to Fight Back 

As Pelletier’s parents fought for custody, her story spread quickly online. It caught the attention of Martin Gottesfeld, a computer security expert who had dabbled in hacking in the past. Gottesfeld had experienced a history of abuse in his own childhood, and so when he heard about her case, he wanted to help in any way he could.

He hatched a plan to attack Boston Children’s Hospital’s computer servers. Essentially, Gottesfeld flooded the servers with thousands of requests, which slowed the website down, and eventually caused it to shut down entirely. This is called a distributed denial-of-service (DDoS) attack. It’s a well known strategy that hackers use to temporarily shut down a website.

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Although the website was down for a few days, Gottesfeld didn’t compromise patient data or sensitive information. Still, Boston Children’s Hospital claims that the attack cost them $300,000 because the donation portion of the website was unavailable to potential donors.

Now, Martin Gottesfeld faces up to 15 years in prison for staging the attack on the servers. Courts will decide whether to hold Gottesfeld responsible for the alleged damages. Although he has never met Justina Pelletier, he is still glad he brought awareness to her case.

When a Rolling Stone reporter asked Justina Pelletier how she felt about this, she said, “He didn’t hurt any kids. He was just trying to help.”

The Trouble with Diagnosing Mitochondrial Disease 

Eventually, Justina Pelletier’s parents regained custody of her after they promised to bring her to psychiatric therapy, and receive family therapy while treat her for her underlying stomach condition. She underwent stomach surgery at Yale in order to relieve some of her pain. She currently takes horseback riding therapy to improve her mobility. It’s a compromise that seems to be working for them.

Mitochondrial disease impairs how the cells in the body function
Credit: Wikimedia.org

Her case proves that diagnosing mitochondrial disease is extremely difficult, and it can put doctors and patients at odds. Diseases for which no definitive test is available are hard to accurately diagnose. This puts doctors in an ethical bind. On one hand, if they treat a disease that the patient doesn’t have, they risk causing harm. On the other hand, if they decide not to treat physical symptoms, they might cause significant distress in patients who really do have a disease. It’s a tricky decision for medical professionals and patients alike.

Justina Pelletier’s case also shows that the digital age makes it easier than ever to help complete strangers, but that this sometimes has legal consequences. It begs the question, “When does an online protest go too far?”

These are concerns that don’t have a clear cut answer. Until we get more tests for diagnosing mitochondrial disease custody battles and, perhaps, online protests will likely continue.