A Broken System Lets the Chronically Ill Slip Through The Medical Maze Cracks

My daughter has an incurable disorder. Her name is Eva, and she is 9-years-old. She is the sweetest, brightest, and most pure and loving child that you could imagine. She brings us incredible joy and clarity about what really matters in life.

She was diagnosed with mitochondrial disease, or as we call it, Mito. She cannot walk, she is very weak, and she can only talk and think like a toddler. Her cellular pathway to making energy from food is broken, so her mitochondria can’t keep up with her body’s energy demands.

The mitochondria is the powerhouse of her cells and, right now, they function like an old factory full of smog and rattling, inefficient parts. Normal mitochondria, on the other hand, serve as the original, clean energy prototype. Consequently, my little girl is always susceptible to a crash.

Eva and her mother, Cristy, pose for a family photo. Photo Courtesy of Author.

We live our day-to-day lives focused on Eva the person, not Eva the diagnosis. But we live with a gnawing fear in the back of our minds. Fear that she will catch a virus or the flu and decompensate so quickly we won’t be able to save her.

Fear that of the myriad of medical decisions we are forced to make for her that we may choose the wrong path. Fear that a surgery or procedure, which is strongly recommended by her physicians, will actually do more harm than good because of her body’s inability to withstand any acute physical stress.

Fear that we won’t be able to care for her. Fear that we will get tired and overwhelmed and not be able to strategically advocate for her. Fear that our judgment as parents will be overruled by a medical system, which is more powerful than we are but doesn’t understand her disease.

[sharequote align=”center”]I hear whispers from hundreds of parents in their moment of weakness that they are terrified.[/sharequote]

As the executive director of MitoAction, I know that I am not the only parent who holds this fear. It lives hidden in the pockets of our existence all the time. I hear whispers from hundreds of mothers and fathers in their moment of weakness that they are terrified. Terrified that this disease will take the life of their child, and terrified that they will be helpless to do anything about it.

Today, our fears are compounded. We are afraid that the institutions that we trust the most will snatch our children away from us. We are struggling to stand up under the crushing burden of having to make the right decision and say the right thing every time.

How can I, as a mother of a chronically ill and dependent child, find the strength? What if I can’t? What if my actions are held against me?

Mitochondrial disease is a chronic, devastating disorder that affects children and adults. It is more common than cystic fibrosis and childhood cancer. The most common symptoms include debilitating fatigue, pain, muscle weakness, intermittent vision and hearing loss, difficulty digesting food and developmental delay. It is a complex disease and is expensive and difficult to diagnose. Supportive treatments are life-saving but do not cure or reverse the condition.

Justina Pelletier is a 15-year-old, Connecticut girl who has mitochondrial disease. Last Spring she got the flu, which can be devastating for a person with Mito. Her parents took her to the hospital, where her diagnosis from a different Boston hospital was disputed. Within a few days, Justina was forcibly removed from her parents care and custody of Justina was given to the state of Massachusetts.

A new diagnosis of somatoform disorder replaced the diagnosis of mitochondrial disease, and the Mito treatment regimen for Justina was stopped. Since then, Justina’s health has severely declined and her parents have only been allowed to see her one-hour a week.

Since the publicity surrounding Justina’s case began, nearly 100 Mito families from around the country with similar experiences have come forward. In listening to their stories, there are frightening similarities:

  • Parents were given a diagnosis and told to seek the guidance of multiple medical specialists. Each physician referred the patient to other physicians so that the family was ultimately juggling multiple medical specialists, multiple appointments, multiple tests and multiple recommendations. Physicians were not communicating with each other as a team but placed the burden on the family to relay messages from one provider to another. The parent was forced to act less like a mommy or daddy and more like a medical liaison. 
  • The diagnosis was disputed amongst institutions. In some cases, one hospital didn’t agree with the diagnostic approach of another and decided to “start over” with testing. There is not a yes or no blood test for mitochondrial disease. It is a complex diagnosis characterized by involvement of multiple organ systems. Diagnosis is made by a thoughtful approach that includes the patient’s symptoms, lab tests, and as much genetic testing as available. Unfortunately, a patient’s insurance doesn’t always pay for the “best” genetic testing, so test results can be considered inconclusive. Further, DNA sequencing technology is changing rapidly year to year.
  • The parents were upset, and their emotions were used against them. Imagine: your child is sick. You go miles out of your community to take your child to the best hospital for the best treatment. You hand your child over in complete trust that the team caring for your child will make your child better. You’re scared and exhausted as a parent. You feel threatened when everything you know and have been doing to help your child is challenged. You are made to feel small and powerless. Perhaps you fight back. Perhaps you trust that the best interests of your child are considered and you go along with a new plan. Imagine, then, being forcibly and abruptly removed from your child with little warning. Would you scream? Would you over-react?

[sharequote align=”center”]Imagine being forcibly & abruptly removed from your child with little warning. Would you scream?[/sharequote]

If I have chest pain and go to Hospital A and am told I am having a heart attack, then later go to Hospital B for the same symptoms and am told that actually I have a lung tumor, how did the diagnosis become my fault? Since when is it the patient’s responsibility to discern what is medically accurate?

So what do we do now?

Share this story. Stand behind the families who have children with devastating, rare and chronic medical conditions. They are a minority community when it comes to health care. They don’t have the energy or power to make their voices heard. They don’t have lobbyists in Washington, D.C. to protect their rights or agendas.

A child with Mitochondrial disease poses with Mickey and Minnie Mouse during an awareness event for the incurable disease. Photo Courtesy of Author.

They are normal moms and dads. They are working to pay the bills and taking days off to go to multiple medical appointments. They are taking shifts getting up at night to give the meds, change the pumps or clean the tubes at home. And, most of all, they trust that everyone who comes in contact with their child will try as hard as they do to do the right thing for their child.

We are tired, but together our voices are clear as a community. We didn’t ask for this disease, but we overcome the hurdles we are given as graciously as we can. We will fight for the right to choose to do what we think is best for our child.

MitoAction.org is a global patient advocacy organization supporting education and quality of life initiatives for patients and families affected by mitochondrial disease. We act as the collective voice of the mitochondrial disease community.

Help us to educate physicians and health care providers, beginning in medical school, about this disease and the experience of being a family with a chronically ill child. Help us to advocate for more compassionate and coordinated care. Help us to fund specific programs that provide legal advocacy and support to families in need. Our mission continues to be to improve the quality of life for every person affected by mitochondrial disease.

Eva shopping in Boston in September 2012. Photo Courtesy of Author.

It is estimated that the cost of the 10-month hospitalization of Justina Pellitier will be nearly $1 million. The medical bill will be picked up by the State of Massachusetts because they have assumed custody. In that time, despite being an inpatient at one of the top hospitals in the country, Justina has not gotten better. In fact, she is much worse.

She was ice-skating last Christmas and now she can barely sit up on her own. Her parents see her one-hour a week while an armed guard stands at her door inside the hospital. The treatments that were in place to treat her mitochondrial disease were removed in an effort to prove that she was fabricating her symptoms and that her parents were exaggerating her condition.

One month of medications for my daughter costs almost $1,000. Our insurance only pays for a portion because there is no FDA approved treatments for Mito.

Thousands of families face the same situation. One pair of special shoes so my daughter’s feet won’t be deformed cost $750. Her wheelchair is more than $5,000.

[sharequote align=”center”]Are we preserving politics over the patient?[/sharequote]

We bear the burden of these costs as a family. How can we possibly justify the waste of money and resources by these agencies like child protective services and institutions when there are so many children suffering and in need? Are we preserving politics over the patient?

MitoAction is a small nonprofit working tirelessly to help many, many families in need. If every person moved by this story gave $5, we could provide legal advocacy and support to these families in crisis.

We could take action. This is not the end of this story. 

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