Justina’s case caught my attention because I have helped care for a young patient with mitochondrial disease, who I will call “Rose,” since she is such a lovely person. I am sharing some of “Rose’s” story with her permission.
Rose has had a variety of vague symptoms “as long as she can remember,” including heat intolerance and dizziness. By the time she became a teen, she experience severe orthostatic hypotension (POTS) and fainting (syncopal) episodes. She then developed stroke-like episodes, with prolonged weakness and difficult recoveries, and severe migraines. Yet the diagnosis of POTS wasn’t made until she was 18, and mitochondrial disease was not the leading diagnostic consideration until she was 19. In the meantime she, like Justina, was “accused” of having a psychiatric rather than physical problem.
A surgeon, consulted to place a feeding tube, decided in that single visit that she had bulimia. For Rose, this isn't surprising; doctors diagnosing her after a single visit, or even sight unseen, happens all the time. (In her own case, Rose had been given several incorrect diagnoses of psychiatric disorders before doctors correctly diagnosed her with a mitochondrial disease—after a delay of many months). Rose goes on to note that not only is a delay in treatment harmful, "but it causes mental anguish, worry, and distrust. Every other mito, POTS, or chronic illness person I meet has had this happen. Every single one. And they all have some level of fear meeting a new doctor, opening up about their symptoms, and constantly worry it is going to happen again.
Complications worsened, with inability to swallow and with bowel dysmotility, requiring multiple surgeries and, ultimately, years of intravenous feeding (hyperalimentation). Through this, Rose has remained as active as possible, enjoying family, friends, and school.
Rose states, “Insurance is a constant battle. We've payed thousands out of pocket each year in past years. I've been denied medications that could improve my motility and aid me in staying off of TPN, which in turn would help prevent [my life-threatening] central line infections/sepsis. It has gratefully improved but only by stressful and constant fighting...”
“I've been refused inpatient physical and occupational therapy multiple times, including kicked out of the program twice. Once I was unable to walk on my own, making it a very dangerous situation in my multilevel home that was not set up for me. I didn't even have a proper wheelchair, and had to drag my feet and was constantly running them over. …I was also denied further studies for mito diagnostics.” This was because a diagnosis would not likely change the progressive decline in her condition.
Frankly, in caring for Rose, I have at times wondered if her insurance carrier hoped to hasten her death in order to save money.
Rose has had to travel far from home for her care, but now has a team she trusts. “Things since have been very good. All my doctors are wonderful, caring, understanding, and fight for me every day. My disease has progressed to the point of total TPN dependence, chronic respiratory failure, and general progression of other organ systems either becoming involved or worsening. However, I'm very much at peace and so grateful for my life.”
Last year, after well over a decade of progressive illness, Rose was finally able to have genetic testing done, and wrote “Validation: a diagnosis,”[see below in comment] expressing her relief at finally having a diagnosis for her horrible disease. She is hopeful that one day, the gene will have a treatment and a cure, though she knows she will not live to see that.
NBC should be ashamed. Last week, in a post about two remarkable young women with rare genetic diseases, I mentioned my outrage at NBC’s Chicago Med for the disservice they did to the mitochondrial disease community. The very next day, my young patient, “Rose,” died.
Especially given this young woman’s tragic death, I want to further explain why what NBC did is so wrong and destructive.
Chicago Med is a 2015 television series created by Dick Wolf and Matt Olmstead. It focuses on a group of fictional emergency room doctors. A number of the episodes have a significant psychological theme. Some also are thinly veiled fictionalized adaptations of news stories. The episodes receive a surprising (to me) 9-12 million viewers, which is why it is so important that their portrayals of disease be fair to patients and, ideally, be educational.
In an episode in February, called “Reunion,” a young girl with mitochondrial disease was “diagnosed” by the ER physicians as instead suffering from psychiatric disease and medical child abuse. There was considerable outrage from the mito community on NBC’s Facebook page. I wrote NBC, asking when they were going to apologize or make amends by accurately portraying the disease to their viewers, rather than looking to profit off a show obviously meant to capitalize on the Justina Pelletier case. Their response? “We don’t comment on our fictional storylines for our series programs.”
Validation: a diagnosis.ReplyDelete
I've finally been diagnosed!
I have a genetic variant that is an orphan, which is so comical because so many jokingly said i was going to be a patient zero with some brand new disease. It's called DES p.ILE451MET. It's a myofibrillar myopathy, and it along with a second gene they found firs my unique pattern of symptoms. It can also cause dilated cardiomyopathy. Im pretty stuck in bed, and leaving the house is a non-option, so an echo hasn't been done since 2011, in the ICU with sepsis.
The second gene is a connective tissue disease (COL11A1 p.GLY110ARG) which in me would cause marshalls or Stickler's II syndrome. It causedls Hypermobility, scoliosis esotropia, maybe my POTS is from that, and can also cause blindness (retina detachment), deafness, arthritis...
The DES variant is s what's causing my organs to go haywire, malfunctioning and even to fail. It is maternal. The main problem, description of the disease is a myofibrillar myopathy, second is scapulopereneal neurogenic syndrome kaeser type. The later causes weakness in all limbs.
Since it's maternal, my mom also has to watch out for dilated cardiomyopathy. Right now, her echo is OK and her EKG showed only a slight misfiring. There A 50% chance my sister has the gene, and if she does, 50% chance it's passed on. Same with me if I was going to have kids.
Email is on the sidebar, please write or comment if you know of somebody or you have a Desmin related myopathy! Especially interested in exact genes. I've already met a few people and it's so exciting for me. Maybe one day this gene will have a name, a treatment, and a cure!!!
I've been dealing with dropping blood sugars and hypotension, severe pain, and a lot of fatigue. Nothing new, but but not all recent issue either. It's been really hard year seeing things worsening not improving at any point, like a flare, thus realizing it seems to be progression. My PCP comes here, which is a huge help. We are waiting for an appointment with a hospice company who can give me nursing, palliative care, and much more. It will be a great help to my Dr and parents as sole caregivers as well as myself. They walked into Dr Gs office yesterday, or of the blue, the very day she was to see me. She told me she kept seriously tearing up, and knew it was God. We have been unable to find any program that fits my needs.