Category: Medicine & health

1986 Mobile Press-Register Article: on specialness and surviving

Posted by – December 17, 2015

This 1986 Press-Register article about me, Jamie and Mom, especially Jamie, surviving the rare disease, was digitized by my Aunt Nancy in Virginia. Thank you.

Mom gave me permission to post this here. It’s so old the newspaper was still called the PRESS-REGISTER!

Back then the medical knowledge and approach to mitochondrial myopathies was much broader/more vague to say the least, and our carnitine deficiencies resist supplementation. We are certainly even rarier than 28 in the world. Today’s definition of mitochondrial myopathy largely excludes us, and metabolic medicine has de-listed carnitine deficiency as a distinct disease. It is now considered a symptom.

It’s my hope the article could help confirm my story about our unusual diagnosis, exceptionally uncommon for the time to put it mildly. And that the article could also somehow help other weird metabolic children….

Transcription of the article’s text below

Thanks to Alejandra far copying it down.

1986-Newspaper-clipping-of-Ruth-Jamie-Nick-pg-1

 

1986-News-Paper-clipping-of-Ruth-Jamie-Nick-pg-2

 

 
11/22/86

Her sons are ‘special’

Photo caption: Ruth Dupree and her sons Jamie and Nick.

By KATHY JUMPER
Press-Register Reporter

Meet two special boys, Nick, 4, and Jamie Dupree, 2 1/2. They have a rare muscle disease. It leaves them too weak to walk and in Jamie’s case, sometimes too weak to breathe.

“I think they are real special,” said their mom, Ruth Belasco Dupree. “A priest said to me, you have to find things to be thankful for. Everyone thinks their kids are special. But I’m absolutely convinced mine are.”

The Dupree brothers have a carnitine deficiency, which leaves them with little muscle control.

Mrs. Dupree noticed Nick at five months old wasn’t attempting to push up on his hands or crawl. After taking him to a series of doctors, one doctor finally acknowledged that something was not right with eight-month old Nick. When Mrs. Dupree and her husband, Michael, moved here from Tallahassee, Fla., she was pregnant again.

“My OB wanted to be more definite about what Nick had,” said the art professor at Spring Hill College. “Nick was then diagnosed as having mitochondrial , a problem in the muscle cells. And that’s true. But there was no known pattern of heredity for it. We thought we had the green light,” as far as their second baby being free of the disease.

But a visiting professor from the University of Iowa, Dr. Hans Zellweger, told them the hard facts. He diagnosed Nick as having a carnitine deficiency and said there was a one in four chance that two-week old Jamie would also have it.

Looking at pictures of her sons, Nick, the active preschooler who doesn’t consider himself handicapped, and Jamie, with his loving smile and shock of red hair, she sighed. “Even if we had a crystal ball and had known,” about the disease, “we probably would have had Jamie.”

A month or so later, it was clear Jamie had the disease. And Zellweger told them that there were only 28 documented cases worldwide of carnitine deficiency.

Nick has gotten better. He can’t walk but he runs nonstop around the house on his scooter. He has a light, compact wheelchair that he uses at the school he attends for gifted children. He goes to gym and dancing classes.

“Nick doesn’t in any way regard himself as handicapped,” she said. “Nick says Jamie’s handicapped. I asked him why we had a handicapped parking sticker on our car. He said so we can park in places and get Jamie’s wheelchair out.

“We’ve gotten some braces for him and we hope they will support him and help him move his legs. I have every confidence that he will walk. He thinks he will.”

Jamie is a miracle. Almost two years ago he got pneumonia and was hospitalized. He was breathing with the help of the ventilator. “The pneumonia made him weaker and weaker. At one point, all he could move was his fingers. When they’d draw blood, he wouldn’t cry. It was too much to cry. He was so weak he couldn’t even smile. There was not a lot of hope for him.

“The ventilator we had went through his nose. Our pediatrician said we should have a tracheotomy done on him. The other case we dug up that was like him, the child died after the tracheotomy.

“Dr. Zellweger told us not to bother because Jamie would not be around long. We thanked him for his directness. And we decided to have it done. We decided it was more important to get him home.”

Mrs. Dupree said a nurse called Elaine Roussos, founder of Helping Hands for the Children, to talk to her. “She gave me a pep talk that I will remember forever. She was so kind and encouraging, she reversed my feeling from utter terror to exhilaration.

After the surgery, Jamie began to pick up again, she said. “In part he was being ventilated more efficiently. And in part, we’d gotten so happy about him coming home, it spilled over onto him.”

In April 1985, Jamie came home. He is still hooked up to a ventilator to help him breathe. He is fed through a tube. He can chew and has a good swallow, but he is still afraid to eat on his own. (He likes to eat Cheetos.) “It scares him because of his breathing problem,” his mother said. “He went for a long period of time when he couldn’t eat.”

“Jamie is not supposed to be able to talk, but he does. He can’t walk. He can’t roll over, but we can cheerlead him into it. We have minor landmarks. He has to be sort of propped up or lying on one side. But he’s gotten to the point that on a good day he can sit up by himself.”

“I think he’s making incredible progress. It’s slow compared to other children, but not for Jamie, who wasn’t supposed to make it out of the hospital.”

Ebola outbreak directly related to our cousin mammals, environmental destruction

Posted by – October 24, 2014

Ebola hemorrhagic fever affects much of the mammalian family tree: its spread should make us remember our intimate connection with other mammals and the environment

All animals sustain themselves on an ecological tightrope of sorts, delicately balancing so many needs, including water, food, space and safety, all tied to the habitat they live in. You kick over habitats, species go into chaos trying to adapt. We, the humans, inextricably interdependent with the environment and other mammals, are ultimately affected. In severely impoverished African countries, the people greatly widen their menu to encompass more animals’ meat than is acceptable in Western cultures. This means “bushmeat.”

This is Franquet’s Epauletted Fruit Bat, one of three fruit bat (megabat) species to recently test positive as Ebola “disease reservoirs” (meaning they are asymptomatic animal carriers of the virus).

In other words, bats, primates and other mammals bitten by bats, apes carrying HIV, and more end up on the dinner table, inevitably bringing new mammalian diseases to the plate at least once, and all an outbreak takes is that one infected meal.

Months before the Ebola epidemic spiraled out of control, there was Patient Zero, a not-quite-two-year-old girl in Guinea. She likely contracted the virus from an infected bat, in an impoverished village where bushmeat is a dietary staple. Because Ebola so often afflicts caregivers, the child’s pregnant mother was soon infected, then other family members, then the midwife who nursed the mother through a miscarriage. Within months, the virus had arrived in the capital, Conakry, and seeded even larger epidemics in neighboring Liberia and Sierra Leone.

This is from a recent article on New Security Beat, “The Making of a Tragedy: Inequality, Mistrust, Environmental Change Drive Ebola Epidemic.”
New Security Beat is a project of the Woodrow Wilson Center, which exists to perpetuate President Wilson‘s pro-interventionist views. “Making the world safe for democracy” by pointing mega weapons at anyone deemed a tyrant or an enemy. Your “Team America: World Police“-type approach, basically, or the Freedom Eagle meme school of foreign policy. So stay alert to possible biases in this source (and all sources you may find).

Still, the article makes important points about our environmental and animal interdependencies driving the infectious diseases we’re exposed to….
It continues:

But the origins of the epidemic reach back further still. The virus may have been flushed out of the forest by multinational timber and mining operations that have clear-cut the (now misnamed) Guinea Forest Region, where the child was from. And population growth, partly driven by refugees from the brutal civil wars in Liberia and Sierra Leone, has driven settlements deeper into the remaining bush.

“As the forests disappeared,” writes Jeffrey Stern in Vanity Fair, “so too did the buffer separating humans from animals – and from the pathogens that animals harbor.” Zoonotic diseases like Ebola are on the rise worldwide, as habitat loss accelerates.

Read the whole thing here: The Making of a Tragedy: Inequality, Mistrust, Environmental Change Drive Ebola Epidemic | New Security Beat

Zoonotic diseases are diseases transmissible from animals to humans or visa versa (“reverse zoonosis”).  In Jared Diamond’s best-selling book Guns, Germs, and Steel, about the non-cultural geographic and ecological reasons Western civilization developed ahead of the “Global South,” zoonosis is cited as a key reason for the Western colonizers’ germs advantage.  Europeans lived with and relied on a diverse stock of domesticated animals, so were packed with zoonotic diseases and immunities. This made early European settlers of the Americas typhoid marys as far as their impact on the indigenous peoples, effectively waging unintended (and sometimes intentional) apocalyptic biowarfare.

In this Mobile Register editorial cartoon by JD Crowe, “Airborne disease,” Ebola takes flight via a sprawling swarm of bats and an airplane.

Africans, unlike Europeans, were known for their hardy resistance to tropical diseases, and therefore were enslaved en masse and deployed especially heavily to die and work plantations in the hot climes few whites would go. But historically having little to no domesticatible animals in the dense jungles of West Africa, Africans didn’t do as well with zoonotic plagues.

Now they’re facing animal-borne infectious diseases like whoa, and it is bad! And environmental destruction in West Africa is a huge factor.

Will humans ever get it through our thick skulls that what harms our mammalian cousins will inevitably affect us??

 

Nick

 

Recommended resource:

Will My Dog Catch Ebola? | Psychology Today -good solid scientific info here: dogs can become asymptomatic carriers in the period before the disease cycles out of their system, but cats appear to not be susceptible to catching the virus

Public Health Back on the Frontburner with Ebola Panic

Posted by – October 22, 2014

Nick Analysis: Focus on Long-term Policy Choices

This attack ad put out by “The Agenda Project,” an org that apparently exists solely to place anti-GOP TV spots, is aimed at the electorate voting in the upcoming decisive midterm races for House and Senate. And it is unique in several ways.
Most obviously, the ad is almost singularly brutal, tying the Ebola outbreak to the years of budget cutting to NIH that has meant harsh limits on vaccine and related infectious disease research along with rollbacks in all NIH’s areas of research.  The images and sounds expertly scare the crap out of you. The use of medical equipment like a heart monitor, the ominous beat of the machine, or using respiratory aids (here, the sound of an Ambu® bag pumping at the beginning and end of the spot) to invoke the patient on the brink, the tension of the emergency that could go either way, is definitely unsettling. When you yourself, like me, are on a ventilator, you notice these things more, and it is more troubling.

guy in hazmat suit grasping a TV remote & saying to his wife

Political cartoon by Mark Streeter of the Savannah Morning News

But despite the utter shamelessness of this ad, it contributes something important by raising (or suggesting) a key question: do you really want a smaller government in a world where we need a robust response to infectious diseases like Ebola?

Cut cut cut everything has consequences. The end result is that the significant resources you need when diseases spread and shit gets real aren’t there. Our health infrastructure was and is largely unprepared for deadly plagues like this. Look at the awful state of our emergency departments, even at prestigious academic hospitals, to begin to understand HOW unprepared we are.

The ad spins events to fault only the Republicans for the budget slash and burn, when Democrats are deeply complicit: their compromise, “sequestration,” cut deep across the board. As I wrote back in August, some of the same Congresscritters who sequester-hammered the NIH, cutting the crap outta research into ALS and other neuromuscular diseases with everything else, doused themselves with ice buckets for ALS research when the Ice Bucket Challenge went viral.
Abusive boyfriend bringing you flowers, it felt like, except the victim is a vast chunk of the population that is sick and need all the help they can get.

It is more radical to tell the truth on the failings that exist on all sides, the Democrats too. I want the truth, man, and will never be a sycophant.

As for President Obama and his role in all this, he has sometimes prioritized other things in budget battles, sometimes gone to bat for CDC funding. But it would be false not to include the context: all of the budgets this president signed that ended up cutting preparedness-for-public-health-emergencies were compromise budgets. The Congressional Republicans decide on an extreme scorched earth budget, slash and burn to everything across the board except for “essentials” like arming jihadis against Assad in Syria or continuing the notorious non-flying F-35 program, then the president threatens to veto the budget until a compromise is forged.  Instead of making his own budget and selling a real and compelling alternative to austerity, inspiring the country to support his vision, he compromises, signs the scorched earth lite budget and then goes golfing with CEOs.

To simplify: President Obama’s compromise budgets have been nearly as bad for public health funding as the Republicans’ first offer-budgets.

The Republicans are expected to win both camels of our bicameral legislature in DC (Congress) on November 4th. I worry that the scorched earth budgets will get even scorchier.
Hopefully the issue of funding for infectious diseases stays on the frontburner, at the forefront of budget debates at least, after the Ebola panic is out of the news cycle and past its usefulness as campaign ammunition, long-term.

The key questions that affect the America we will live in over the long haul, what gov’t should do and not do, how public monies should be allocated, how we regulate the dumping of toxic waste, civil liberties vs. a police state, these should be what we debate and focus on solving.

The Ebola outbreak is scary, a much more serious pandemic than the swine flu. The H1N1 porcine influenza was initially hyped as super deadly, but the strain that spread in the U.S. was ultimately no deadlier than normal seasonal flu (regular influenza is horrendous—I’ve had it—so don’t get me wrong). But when there was so much unhinged fearmongering over H1N1, New York stopped releasing the numbers of influenza patients amidst the panic, and people were being pressed to wear surgical masks that don’t protect against the microscopic flu virus, I blogged against it.
I would never blog against Ebola over-caution like that. Ebola is a hemorrhagic fever like the BLACK DEATH that wiped out nearly 2/3 of the European population. Ebola hemorrhagic fever isn’t as contagious as that history reshaping bubonic plague, but it’s apparently VERY contagious in the end stages when the victim’s viral load is highest and they are hemorrhaging like crazy. This Ebola outbreak has already proven devastating, killing over 5,000 people in West Africa as of this post’s time of posting.  Not taking Ebola seriously, not taking reasonable precautions isn’t liberal or conservative, it’s just DUMB!

But infectious diseases have a life cycle in the aggregate as well as on the individual level, and all outbreaks end.  Ebola will be long forgotten by this time next year, whereas the policy choices on health care infrastructure, how we fund public health will be just as important and relevant then and always. Remember the long-haul!

Nick

 

The ADAPT Ice Bucket Challenge: An #IceBucketChallenge for Community Inclusion! /memeHijack

Posted by – August 29, 2014

My Mom Taught Me – Subvert The Dominant Paradigm


remember to turn the subtitles on.

[my shirt says: FREE OUR PEOPLE  BIG APPLE ADAPT]

When Alejandra mentioned to me that even Raul, like me one of two brothers with an uber rare muscle mitochondrial thing, on a ventilator full time and an awesome advocate too, went ahead with the Ice Bucket Challenge, I replied “if only ADAPT had a meme like that!” So together, Alejandra and I brainstormed a new, ADAPTed version of the challenge, and here it is.

I offer a different focus for the ice bucketed masses on social media, and try to give voice to the views of many like me in disability rights circles: we don’t want “eradicating neuromuscular diseases” to be the only agenda… quality of life is the key, and every day we’re fighting uphill against systems that hold us back from living the best lives we can.

Yes, awareness is great. Yes, medical research is super important, for quality of life too. Politicians who ham it up with an ice bucket after voting to sequester cut the NIH budget so severely that ALS research and all NIH programs had to regroup even more barebones than before shouldn’t be re-elected!  Democrats voted for that sequester en masse while the Republicans held out for even more harsh cuts; nominating the lot of ’em for a bucket o’ scorpions challenge would be more like it.
Neuromuscular research funding should be auto-approved and Raytheon, Northrupp Grummond, KBR and their ilk should have to pass the hat on social media.

Medicaid long-term care still mandates antiquated nursing home care but in-home supports are “optional,” meaning most states offer only spotty or barely-existing home care, and even that is increasingly threatened.  Private “major medical” health insurance like Blue Cross phased out coverage of long-term care nationwide in the early ’90s excepting a handful of examples, so unless you’ve purchased a special long-term care plan in your working years to cover full-time care in your senior years, Medicaid is the only place you can turn.  Private long-term care plans aren’t available to ALS diagnosed people, preexisting condition y’know, much less sold for the Nicks and Rauls with inborn genetic muscle diseases.
This means the most severely affected by neuromuscular diseases like ALS, the Americans who need full-time care the most, have only the dilapidated 50 states/different Medicaid programs for the long-term care that is so essential for both survival and a life worth living. RIGHT NOW these vulnerable groups are unable to get the needed services and supports for the quality of life that they deserve, with their loved ones in their homes, and face worse conditions than they should because of our insane political system. That fight is RIGHT NOW, not four, five generations hence like the potential cures we seek.

Standing up for the people in the trenches now is important, awareness of our lives, our struggles, our dignity, is crucial oxygen for us as we face daily battles… Visit www.adapt.org to learn more and to donate.

Nick

Diamonds in the Rough ‘n Tumble Webternets: What Med-people of Conscience Are Blogging (Part 4/4)

Posted by – August 19, 2014

Part 4 of 4 of the series When Life and Death is “A Matter of Policy”

For part 2, I wrote an overview of some of the bad things that have occurred when people in medical settings follow policy strictly even when it leads to horrible consequences, or in the case of Eric Garner, they don’t follow anything (aside from what the cops said) with horrible results.  In part 3, I covered the psychology of obeying.
For the last part, I look at what some med-people of conscience have said about obeying bad top-down mandates, the VA kerfuffle, and related issues as our medical ecosystems undergo tectonic shifts in the U.S. with very mixed, highly debatable, results.

I’ve always been drawn to posts blogged by nurses, doctors, RTs, et al…

Cartoon description: Just like the iconic photograph of five helmeted WW2 veterans working together to plant an American flag in a muddy clearing on Iwo Jima, but in this iteration, the five famous GIs struggle to foist forward a tower of VA paperwork instead.

“VA Red Tape” by John Darkow, Columbia Daily Tribune.

and for understanding the complexities of the overlapping universes (univerii? the multiverse?) of health care models and their rules and regulations, the medical bloggers out there are invaluable.

Dr. Marc-David Munk, blogging from his unique vantage point as “Chief Medical Officer” of an ACO in Central Massachusetts, explains the paradox behind the epic fails seen at the VA and other “big healthcare” institutions: the more top-down mandates, rigid accountability rules, and abstract “performance metrics” are imposed, the more you accelerate crapification¹, enable unaccountability and cooking the books, remove front-line staff’s decision-making powers, and lessen patient-focused medicine.
Dr. Munk deftly unpacks the weirdity:

It’s a common story to anyone who has been around big healthcare: senior management attempts to respond to a business problem by implementing a series of high level mandates that remove front-line management’s ability to think and make operational decisions.

…A cascade of things happens with high-level mandates: Senior management becomes obsessive about setting and measuring metrics. The degrees of freedom for people to make patient-focussed care decisions diminishes and every manager along the way starts to feel squeezed on all sides. Some find work-arounds such as the secret set of “waiting lists” kept off the books at the VA and the false reports generated by some.

See the entire blog post: The VA, Laws on Healthcare and the Dangerous Business of Replacing Front-Line Thinking with Corporate Mandates

Dr. Roy Poses, blogging fearlessly at Health Care Renewal, takes on the issue of top-down mandates from corporate managers with uncommon boldness, questioning the ability of the MBA managerial class to understand medical care long-haul at all, even pondering the role corporate psychopaths helming our big health care conglomerates might be playing in the present state of affairs. I applaud you, Dr. Poses! Your candor and insight (and pure gutsiness) is desperately needed. PLEASE keep bloggering on – KBO!

Dr. Michael Hein (linked to by Dr. Munk) sheds light on the 90% of the iceberg underneath the VA scandal we’re not seeing or addressing: the crisis of woefully scarce primary care.  Most civilians wait much longer than 14 days for an initial primary care appointment; 30 days if you’re lucky, up to 6-9 months depending on which part of the country you’re in.
Dr. Hein also linked to the always insightful OB/GYN Dr. Jen Gunter reining in “metrics madness” at the VA and elsewhere with her lasso of truth.

I hope to blog more about the issue of the supply of health care in the future.  The Affordable Care Act and Medicaid expansion (see my post explaining the Medicaid expansionboost access to insurance (and ostensibly health care) without a corresponding effort to expand the supply of doctors, nurses, hospitals, and so forth.  Though I disagree with libertarian sources like Reason Magazine on most issues excepting civil liberties and bad, counterintuitive regulations being bad, I gotta give ’em a big tip of the hat for addressing the supply of health care and the many unnecessary choke-points in the supply pipeline head-on: Video: How to Grow the Supply of Health Care RIGHT NOW!

Paul Levy, a former hospital CEO whose bloggings at Not Running A Hospital led me to Dr. Munk’s blog to begin with, is running down part of the health care supply problem: monopoly. Embedded in the Bay State, Not Running A Hospital is giving much needed scrutiny to the recent deal with Partners HealthCare and the Attorney General Martha Coakley, the behemoth corporation that owns Massachusetts General Hospital and Brigham and Women’s Hospital, both affiliated with Harvard, allowing them to eat South Shore Hospital and related doctors’ practices and ultimately become more scary and behemoth-y, the prices even gougier.  “…it cannot be in the public interest to permit a dominant provider to become still more dominant” Levy points out in his letter to the trial court set to rule on Coakley’s “anti-trust settlement”—read his full letter here.
He deserves not only an award for activism but an award for blog journalism, as he has pulled together an excellent collection of factual information about Partners HealthCare and the ongoing anti-trust dispute in a way spin-doctored news media don’t, and examined things, like Gov. Patrick’s unserious “wait and see” lip-service, that the news media won’t.

And this brings us full circle back to the concepts I began this series with: rules, regulations and policies decided in boardrooms, courtrooms and back-rooms have an enormous affect on all our lives, especially when you’re a “patient.”

Like Lambert Strether at (terrific blog critical of big finance) naked capitalism wrote, the way the corporations code their systems—the computer code, the 1s and 0s—increasingly is becoming the law. Notably in cases of big banks’ mortgage databases that perpetrated mass-scale fraud, the courts just assessed penalties per offense, “cost of doin’ bidness” for banks, and the big databases roll on, slapped on the wrist but essentially made legal after the fact.

Step one: Code the system. Step two: Rewrite the law to match the code, and grant immunity. It is, after all, better to ask for forgiveness than permission.

Code is law.

See the whole post here: “Code is law.” Literally. | naked capitalism

It’s symptomatic of a weak state and broken legislative branch(es). More and more, we need to lobby the corporations, the guys who control “the code” and the related bureaucracies—my focus is medical bureaucracy —just as much or more than the public officials who ostensibly run things in a democracy.
We’ll need good bloggers, good advocates, good blog-journalists and blog-activists. The aforementioned blogs are great examples of what that can look like.  I hope to be a part of it.

Nick

 

Part 1: the introduction/weird ventilator rule

Part 2: Paramedics, the VA and obedience gone wrong

Part 3: The Milgram experiment, the tendency to obey and medical contexts

 

Footnote:
1. crapification – coined by Yves Smith (nom de blag of Susan Webber, head of naked capitalism) to describe the ever crappier quality of consumer goods and services as everything inexplicably succumbs to “the race to the bottom”… “…long-overdue and largely futile backlash against the crapification of almost everything“…

Human Nature, the Tendency to OBEY, Bad Incentives, and the U.S. Medical System (Part 3/4)

Posted by – August 18, 2014

Part 3 of 4 of the series When Life and Death is “A Matter of Policy”

In part 2, I examined some of the bad things that can happen when people in medical settings apply “the rules” strictly, unmodified by the patient involved or the dictates of conscience. Now I’ll look at the what and why of human obedience…

The Milgram experiment on obedience to authority figures was the one of the most extensive and certainly the most well-known study of obedience ever conducted. The Milgram experiment was a series of social psychology experiments designed and run by psychologist Stanley Milgram in the summer of 1961 specifically to test how far “Just following orders!” goes with Americans, to answer “could genocide happen here if framed by authority figures as lawful?” “Could it happen here?

Dr. Milgram was keenly interested in how social context affects behavior, and also was an early creator of educational films. He made a film about the obedience experiment along with other films teaching social psychology.

Dr. Milgram, a middle-aged white professor with poofy hair, demonstrating social contexts, with shaving cream on his face

Milgram’s educational film: In certain contexts you do things you would not do in others. In this film clip, Dr. Milgram explains “…in this setting I willingly expose my neck to a man with a razor blade.” Source: this youtube clip

For the experiment on obedience, Dr. Milgram et al carefully selected the study participants to screen out psychos, any abnormal psychology excluded, so the subjects were your totally normal New England Christian people for the most part. He had researchers telling the subjects to shock the unseen “learner” in the next room when they supposedly got the memory questions wrong, shock people with the (not actually real) shock box, increasing the power of the shock successively.  In Milgram’s first set of experiments, an incredibly disturbing 65 percent of participants went all the way up to the massive experiment-ending 450 volt shock.

the infamous Milgram experiment shock box, with switches and in red letters EXTREME INTENSITY SHOCK

the infamous Milgram experiment shock box, with switches and in red letters EXTREME INTENSITY SHOCK

Men and women showed identical willingness to kill the “learner” with fatal shocks, though the experiment isn’t about killing, it’s about obeying bad things and inflicting pain on others. In the course of the experiments, the experimenter (the authority figure) would urge the subject to continue, to “please go on,” and re-assure them that the electric shocks were their job, part of something necessary, non-deadly and that the researcher is legally responsible. For the subjects, there’s the ambiguity of the volts on the board vs. the experimenter telling them it doesn’t cause “long-term damage,” the authority figure taking responsibility, and the overarching concept that this benefits science.

Med school psychiatry faculty had predicted only 1% of subjects would go to maximum shock, but in the initial experiments and all subsequent (and present-day) repeats of the experiment, regardless of political geography or background, consistently 55-65 percent will go all the way to XXX, the maximum 450 volts. Few variations, like changing the proximity of the authority figure, moving the victim closer, lower subjects’ obedience levels. In a variation where participants had to hold the learner’s arm physically onto a shock plate, compliance decreased but 30 percent still obeyed and administered the fatal shock.  Other variations, including age, gender, religion, politics, made no difference, revealing obedience to authority to be one of the few constants of social behavior, unaffected by time and place.
The urge to OBEY the bureaucrats in charge is immense. In this recent repeat of the Milgram experiment for the BBC, 9/12 went all the way to maximum shock 450 volts, only 3 refused.  The guy shown refusing seems a totally non-descript random middle-aged white male, so the people willing to tell the authority figure to shove it, that they won’t harm someone, period, fit no particular pattern. People of strong conscience don’t adhere to what you would expect, a certain mold or “type,” it seems closer to “the people you least expect.”

Milgram concluded:

“Ordinary people, simply doing their jobs, and without any particular hostility on their part, can become agents in a terrible destructive process. Moreover, even when the destructive effects of their work become patently clear, and they are asked to carry out actions incompatible with fundamental standards of morality, relatively few people have the resources needed to resist authority.”

Recommended resource: TED Talk on the Milgram experiment and the Stanford Prison Experiment

Milgram Experiment-like Reality in U.S. Hospitals?

The parallels with U.S. hospitals are disturbingly obvious here.

Doctors, nurses, RTs, et al…
if you’re ordered to follow rules that could hurt or endanger the patient, would you?

Not only do you have authority figures bearing down on you, the administrators have real power to impose repercussions, and you know the supervisors and bureaucrats up close, you’ve observed them in their natural habitat(s) and know that they could really ruin your week if not fire you if you’re “not a team player,” serious powers the Milgram experiment’s authority figures never claimed to have.  Throw in fatigue, patient censuses that often mean 1:30 nurse-to-sick-people ratios, and the self-evident reality that hands-on staff in clinical settings may only see a given patient for a few hours or one shift, then poof, but have to deal with the same supervisor(s) most/all work weeks, and you’re probably going to get 90-95% of staff obeying bad things if it were possible to run a Milgram-type experiment in a hospital situation.

The only time that the order to take me off my normal ventilator and put me on the hospital vent was ultimately not followed, was when a charge nurse (who we never saw) apparently stood up for me in the behind the scenes debate with higher-level administrators.  Then it is an order that authority figures disagree on, and therefore very different for the front-line staff actually doing it.

James Madison famously wrote: “If angels were to govern men, neither external nor internal controls on government would be necessary.”  Like the founding fathers set out to engineer checks and balances since the republic would be led by “men” not “angels,” the medical sphere should have real controls.  Not to be harsh or judgmental, I just think we should not assume frail humans, fatigued and under the gun to OBEY the boss, will be moral heroes 100 percent of the time.  As “Publius” and also “Publius” (James Madison and Alexander Hamilton) articulated in the Federalist Papers, banking on mankind to be consistently angelic is a really bad bet.  Not trying to malign anybody, just trying to look at human social behavior as it is.

Front-line staff need good conditions, whistleblower protections with real teeth, flexibility to improvise, trust in their decision-making, and the main “performance metrics” should be patient outcomes and happiness.  You can’t have bad incentives so divorced from patient outcomes, entirely non aligned with the task of helping people, and have functional health care.

VA hospital execs were given performance bonuses $$$$ for meeting certain metrics, like first appointment for veterans after intake within 14 days, and, quelle surprise, the incentives being to cook the books—and as far as I know that structure of cash bonus incentives is still in place—documenting fictions was exactly what resulted, it being in the hospital leaders’ own best interests to rack up performance pay and reassure the higher-ups that their impossible goals were going forward just swimmingly. This is why VA secretary Eric Shinseki was so clueless… the culture was to tell everybody at the top of the VA food chain only what they want to hear.

It’s a cold and bleak world, but there are still lots of good people, people of conscience in medicine who take their oaths to patients (e.g. “Primum non nocere,” first, do no harm) as serious life missions.  There are points of light, “diamonds in the rough.” Some of these med-people of conscience have blogs.

In part 4, the finale, I’ll show you what some of my favorite medical bloggers say about the VA fiasco and medibureaucracy.

I also write about disobeying the power structure back in June, see: Law and Order: When Is It Wrong to Follow The Law?

Nick

 

3/4 Series When Life and Death is “A Matter of Policy”

In Part 4, activism and rays of hope from medical bloggers

go back to Part 2, Paramedics, the VA, and when following policy goes horribly wrong

or go back to Part 1: introduction to the series/weird ventilator rule

 

 

Paramedics, the VA, and Eric Garner: When Deference to Authority Goes Horribly Wrong (Part 2/4)

Posted by – August 15, 2014

Part 2 of 4 of the series When Life and Death is “A Matter of Policy”

Annnnnnnnnd we’re back… in part one of this series, I detailed one policy driven by No Discernable Medical Purpose (NDMP), and that’s the “no foreign ventilator” policy hospitals have, affecting me in the past and maybe at points in the future.
In the past, I blogged about paramedics not wanting to move a dude suffering cardiac arrest “because liability,” No Discernable Medical Purpose (NDMP).

Here in the NY metro area especially, paramedics have been in the spotlight lately… not for good reasons, but in connection with the death of Staten Island gentle giant Eric Garner.  Garner, known in his neighborhood as “Big E,” was murdered in broad daylight by an illegal NYPD chokehold for talking back to cops who were harassing him for a past pattern of selling “loosies” (single cigarettes).  Garner, who wasn’t even selling anything that day, said “this stops today!” and “please just leave me alone,” among similar things, which apparently constituted resisting arrest and justified initiating force against him—an unarmed man—straight up police brutality.  Here in NY, Garner’s murder has occupied conversations, newsprint, blogprint, radio and TV, and the role of the paramedics who seemed to make no effort to resuscitate him was/is being investigated, and the EMS team involved was suspended pending the investigation.

It’s evident from the horrifying footage of Garner’s death that none of the normal medical protocols were followed, and all nurses and doctors who have talked about it on the record (see Eyewitness News 7 report) are unanimously flummoxed and dismayed at the unusually lackadaisical approach EMS took.  The New York Times spoke to Dr. Alexander Kuehl, who led Emergency Medical Services in New York City during the ’80s. “She certainly didn’t do her job,” he said of the paramedic girl on the infamous cell phone video of the Garner killing.
“She’s totally overawed by the cops. She doesn’t do her assessment at all. There was something very peculiar about her approach.” (full NYT article)

We may never know the full story. It’s apparent from the horrendous footage that the cops waylaid EMS, saying “not yet,” and also telling the crowd Garner was fine and still breathing in order to avert the whole neighborhood going into full-on rioting (crowd control). But that two EMTs + two paramedics took the NYPD assailant’s word for it and didn’t intervene in any of the usual ways is more than a little discouraging.  The decisions made, whether directed by the NYPD on the scene, or driven by weird liability fear-related policies, or the EMS supervisor, or all of the above, self-evidently do not reflect advocating for your patient or serving Any Discernable Medical Purpose.

Recently an EMS-related surreal hospital policy also grabbed headlines (in conjunction with the increased scrutiny around the VA scandal) when the policy directing staff anywhere outside of the main buildings to CALL 911 if a patient collapses was followed, and killed a Vietnam veteran who, through unlucky happenstance, had a heart attack in the hospital cafeteria.

The AP reported:

ALBUQUERQUE, N.M. (AP) — A veteran who collapsed in an Albuquerque Veteran Affairs hospital cafeteria — 500 yards from the emergency room — died after waiting around 20 minutes for an ambulance, officials confirmed Thursday.

It took between 15 and 20 minutes for the ambulance to be dispatched and take the man from one building to the other, which is about a five-minute walk, officials at the hospital said.

Kirtland Air Force Medical Group personnel performed CPR until the ambulance arrived, VA spokeswoman Sonja Brown said.

Staff followed policy in calling 911 when the man collapsed on Monday, she said. “Our policy is under expedited review,” Brown said.

Full story here: Veteran dies waiting for ambulance in VA hospital

In this Dave Granlund political cartoon, wheelchair inaccessibility serves as a visual metaphor for the inaccessibility of V’A medical care/doctors’ appointments writ large. Unfortunately, architectural barriers to medical care are too often non-metaphorical in many parts of the country.

In the initial local TV News reports, the implicated hospital said simply “we followed policy.”

“Just following orders.”

Sadly, this is yet another instance of “No Discernable Medical Purpose” (NDMP). The best medical treatment for this veteran easily WAS NOT waiting for an outside ambulance, after all “every second counts” with a heart attack. What he needed was heroic action by the staff hoofin’ it to get him to the Emergency Room with all possible rapidity, where cardiac crises are something U.S. medicine is set up to handle really well.  If their Emergency Dept. has no one who can rapid response with a gurney to code blues in adjacent buildings, that is a matter of leadership and policy too, NDMP as it was not serving a legit medical goal.

Deference to whacked-out policies is baffling, especially in the United States, where you’d expect a bit more spunk and middle-finger wielding to authority figures from the descendants of rebellious colonists who sparked a revolution over the British effort to inhibit their tea smuggling and rum running (among other things).  Here, that meek obedience—maybe even “willful blindness—the higher-ups like to cultivate led to horrible consequences.  Sometimes disobedience is needed, even essential, as I also discussed in the post Law and Order: When Is It Wrong to Follow The Law?

In Part 3, I’ll look at the psychology behind the tendency to OBEY, bad incentives at the VA, and how these problems can be ameliorated.

Nick

2/4 Series When Life and Death is “A Matter of Policy”

In Part 3, the Milgram experiment, James Madison, and hospital ethics
Part 4: activism and rays of hope from medical bloggers

or go back to Part 1: introduction to the series/weird ventilator rule

Medical Bureaucracy: Switching Your Ventilator “Because Policy” (Part 1/4)

Posted by – August 14, 2014

Part 1 of 4 of the series: When Life and Death is “A Matter of Policy”

As I mentioned recently in the quasi-mission statement of the blog, I create bloggings to ask the right questions, to illuminate the unseen issues facing us ignored vulnerable groups, or that’s the goal.  Within that is the idea that the questions mainstream media asks are THE WRONG QUESTIONS, and that the issues facing vulnerable groups that really need advocates (e.g. families with medically complex children, people on mechanical ventilation, the population who faces poverty solely/primarily because of their disabling medical conditions) are largely unseen… therefore I keep blogging to fill that gap, to voice the unheard concerns.

One huge umbrella of concerns affecting me and others in the aforementioned unseen groups is the top-down rules and regulations imposed on us.  For us, there are the laws, but in terms of the ad-hoc jumble of non-systems that control the services and supports essential to our survival—much less quality of life—there are all the rules and regulations implementing the laws, and rules more local to us coming from home health agencies, state regulators and Medicaid offices, hospital administrators, the list goes on and could cover a number of pages unheard-of except for in encyclopedias, and these rules and regulations govern our lives just as much as the actual laws (if not moreso).

The bureaucratic octopi have tentacles everywhere, and they’re especially consequential in medical bureaucracy where people are at their most vulnerable and any tweak in the rules can change the care, and suddenly life and death is “a matter of policy,” not just about the right care at the right time. That can kill.

Medical Staff Too Often Directed to Do Things for No Discernable Medical Purpose

The actual lived experience with medibureaucracy matters most here, as the data to prove or disprove the impact of diverse millions of rules on untold millions of individual staff and patients doesn’t exist. One especially vexing hospital policy that I run into frequently is the “no foreign ventilators” policy, and it is so frustrating because it’s purely a problem of legalese, not a matter of the appropriate medical treatment…it’s simply “a matter of policy,” outside treatments and prescriptions, and therefore outside of the patient’s right to refuse treatment. I don’t single out one hospital, all hospitals do this.  If somehow your hospital is the same company as the DME (Durable Medical Equipment) company providing your home ventilator, there’s probably no issue of hospital non-ownership or fear of an unknown machine, and it’d be fine, but otherwise, the bureaucrats are likely to deem the liability risk of “OMG foreign equipment” worse than the risks of changing you to a hospital vent, even if the opposite is true.

"No foreign ventilators" - cartoon by Nick Dupree.  This is a caricature I painted about how it feels when hospital staff try to take your home vent, depicted here as portable lungs, caricature of my own self on the vent, hospital staff depicted as hands on the lungs and a speech bubble: "gonna take you off your vent now mmmkay?"

“No foreign ventilators” – cartoon by Nick Dupree. This is a caricature I painted about how it feels when hospital staff try to take your home vent, depicted here as portable lungs, caricature of my own self on the vent, hospital staff depicted as hands on the lungs and a speech bubble: “gonna take you off your vent now mmmkay?”

I would like to see a study of the effect of taking people off their vent in favor of a hospital vent for No Discernable Medical Purpose (NDMP). This could be done as a basic hospital exit survey or a more detailed “qualitative analysis” or something to discern the wider reality: for most of the people affected, is switching vents solely because they’ve switched care/legal jurisdictions (and for NDMP) a traumatic and risky thing, or is switching to a hospital vent more like switching to a new toothbrush for most, no biggie? I definitely fall into the former category, my lungs maintaining a delicate balance against “compressive atelectasis“—my spine smushing into the right middle lung—equilibrium created by high volume ventilation that can quickly deteriorate, lungs partly collapsing and all hell breaking loose when hastily forced on a different form of mechanical ventilation with different (inappropriately low) volume nearly 18 months ago subsequent to an exploratory thingy in the OR.  But I don’t know that most permanently vented patients react similarly….

While this is also an issue of patients like me who are so RARE they don’t match any of the hospital protocols or norms of practice, square peg vs. round hole, my focus in this series is the medical bureaucracy’s whole canon of weird rules, potentially affecting anyone, especially insofar as the rules and policies create staff actions that serve No Discernable Medical Purpose (NDMP).

Nick

intro post of my Series When Life and Death is “A Matter of Policy”

In Part 2, Paramedics, the VA, and doing things for NDMP
Part 3: the Milgram experiment and hospital ethics
Part 4: activism and rays of hope from medical bloggers

Recommended Seasonal Fruits for Autumn

Posted by – November 9, 2013

I’m a bit late on this one… the holiday season’s crowding in on us, and soon people will consider it winter instead of fall, but I want to cover this anyway since few know there are autumn seasonal fruits.

The source for this, primarily, is the Greatist.com list 19 Seasonal Fruits and Veggies to Eat This Fall.

There are healthy fruits that come from autumn harvests. Persimmons, pears, cranberries, grapes, and two I’ll highlight here:

1. Apple

The mythical apple, poisoner of Snow White, a symbol of temptations that made it into Renaissance paintings of Eden (though the oral tradition often points out Eve and Adam ate grapes, fruit of the vine that still carries power).

Apples are good to eat, and a product of autumn harvest, which is why you see Fall Festivals with candy apples or “bobbing for apples” contests.

But not all apples are created equal.  There are over 7,500 varieties of apples: of these, “Fuji apples have the highest concentration of antioxidants, phenolics, and flavonoids, while Cortland and Empire apples have the lowest” (the Greatist article).  I like Granny Smith apples too…. though I’m guessing they’re somewhere in the middle on flavonoids, I’ve found them to have a mild stomach-calming effect.  I have mitochondrial-related disease of some sort, and when I was at my worst in Fall of 1991, there was a time when I couldn’t keep anything down excepting Granny Smith apples and peach sparkling water.

High-flavonoid, high-antioxidant foods become super important when dealing with mitochondrial involvement in disease, or eating for mitochondrial health just because you find it helpful.   I write with the former in mind.

2. Kiwifruit

“This fuzzy little fruit was brought to California in the 1960s and flourishes there September through December.” (Greatist article)

The kiwi is an unusual fruit.  They’re berries, with tiny edible seeds like a strawberry, but they grow on a vine, but they have an inedible furry exterior like a less ambitious coconut.  Australasia tends to have bizarre animal species, like the kangaroo and duckbill platypus, and the kiwifruit is like the duckbill platypus of the berry family (though it didn’t begin in Australasia).  Originally yang tao or the “Chinese gooseberry,” it spread from Southern China to New Zealand in the early 20th century and became popular with American GIs stationed in New Zealand during World War II.  “Jack Turner of produce exporters Turners and Growers suggested the name kiwifruit in 1959.” (from Wikipedia),  Kiwifruit orchards subsequently spread and got bigger in New Zealand, and by the ’80s their cultivation was thoroughly globalized and they became available in your local produce aisle.

Kiwifruit like growing in Mediterranean climates like New Zealand, California and Italy and Chile. Italy actually has a slight lead over New Zealand in tons of kiwis produced annually and is world #1 in kiwifruit tonnage (source). But I think most Italian kiwifruit likely supplies Europe, and U.S. buyers probably have kiwi from California or Chile, though surprisingly this 2005 world kiwifruit production map shows upstate NY as having North America’s only productive kiwifruit orchards (at least for 2005).
Bees have to pollinate kiwis for good yields, but they prefer pollinating other, less difficult plants, so it’s a beekeeper challenge.  More on our threatened bee population in another post.

Kiwifruit are high in Vitamin C (one kiwi is 1.5 times the daily requirements for C) plus Vitamin E, Vitamin K, flavonoids, has a mild anticoagulant effect, and more. (source)

Warning: kiwifruit may cause allergic reactions in sensitive people.

Personally, I do like them, they just get a bit harshly acidic… so eating a big one at once can burn.  The kiwifruit I’ve eaten in NY are enormous compared to what I remember from the late ’80s.  Size and acidity varies widely by kiwifruit species (there are around 60 species).

I painted a kiwi, hopefully well enough it’ll help you identify one should you encounter one in your daily life.

Kiwifruit, by Nick Dupree, painted November 2nd, 2013, in Corel Painter

Kiwifruit, by Nick Dupree, painted November 2nd, 2013, in Corel Painter

Of course, if you live in a food desert like the scenarios I described in my previous post, it can be difficult to impossible to access healthy seasonal fruits….

Nick

A Summer of Metabolic Disease-related Updates…So Far

Posted by – August 19, 2013

Summer 2013

This year from June to present (mid-August) I’ve been deep in the diagnostic jungle, repeatedly going back to Columbia Presbyterian hospital in hopes of answers, a diagnosis, a treatment, anything… and I’ve written a series of long Facebook posts/epic mito updates, trying to make sense of life, the universe and everything as we close in on diagnosing me with something more specific than “unknown metabolic disease” or “we think something’s wrong with your mitochondria,” over 31-years into this journey.

Note: not all metabolic diseases are mitochondrial diseases, but all mitochondrial diseases are, by definition, metabolic diseases.  For example, adrenoleukodystrophy (ALD) featured in the movie Lorenzo’s Oil, is definitely a metabolic disease, unmetabolized fatty acids end up harming myelin and wreaking havoc on the brain, but not mito-related.   Tay-Sachs disease is metabolic disease because it’s a lipid-storage disease that wrecks the brain, depositing unmetabolized junk in the brain like ALD except differently, with different processes, and with consequences much much worse, but it’s not mito-related either.

Right now the only thing we can say with absolute certainty about “Nick and Jamie disease” is that it’s an inborn error of metabolism, either a new mitochondrial disease or a wholly new metabolic disorder unrelated exactly to mito.  Though I strongly suspect mitochondrial involvement, irrevocable proof requires more waiting. A Nick cell line of sorts is being created from a skin biopsy taken July 29th for further mitochondrial testing, and I hope these tests can provide answers in the coming weeks and months.

The Vision After the Sermon (Jacob wrestling with the Angel)

Paul Gauguin (1888), “Vision after the Sermon,” showing the angel-wrestling encounter watched by Breton villagers

Having a disease that’s living with you day-in-day-out, fighting you intimately until you feel red in tooth and claw but is unknown is strange, like Jacob wrestling with the unseen

Below are Facebook posts I have written as I push for answers, reproduced here (in some cases truncated, lengthened or enhanced for this act of bloggery) for those who didn’t see them before.  Though the primary topic is the quest for diagnosis, the essays get deep, exploring assumptions hospitals make, societal attitudes toward disability, and more…

Update of June 30th:

I’ve been remiss in updating ya’ll on the visit with the metabolic disorders team… Well, the team is great, they only see patients with rare metabolic disease, so they’re actually designed to have time to deal with someone like me, something amazing in and of itself. This is what I’ve been looking to circle back to at Presbyterian since visiting the hospital in 1999, flying up from New Orleans to NY (thank goodness I could fly direct—avoiding the 7th Hell that is Atlanta Hartsfield Airport—and the Continental Airlines team at Louis Armstrong New Orleans International was good to me).

… the start of the more appropriate formula happened Thursday, and I hope that will end the problem of my body consuming its muscles for want of protein.

Though they too must operate within the often-maddening and time-leeching constraints of prescriptions, increasingly-frustrating Medicare/Medicaid bureaucracy, etc., I feel they’re awesome, the best medical thing that has happened to me in New York… they feel like the sea of fail parting miraculously and the angels singing and so on…even if they don’t know something, they know that they don’t know which is hugely advantageous in-and-of-itself, as many of the complications I’ve encountered over the years have arisen from doctors and hospitals wrongly assuming that I have a more typical muscular dystrophy.

It’s been a long, tough road… On the adult side of hospitals the assumption seems baked-in that, if you’re already on a ventilator and tube feeding (OMG “life support!”) their treatment plans have already failed, there’s slim to none that their type of medicine can offer you and they’ll tell you, “there’s nothing I can do.” Most were uncomfortable with me as they thought me outside their purview, someone to be referred to hospice or the like. Since I’ve escaped from Roosevelt Island in September ’09, most doctors I’ve encountered have written me off as end stage, or even booted me downstairs to the ER (happened twice at NYU, though I have no beef with the excellent ER people) instead of keeping my appointment, so uncomfortable were they with me, ventboy on a stretcher, before even laying eyes on me… Given the harsh reality of this, I don’t blame anyone turning to homeopathic, alternative medicine, dietary approaches, etc.

But on the pediatric side of the hospital, there seems to be a natural, intuitive understanding that yes, some childhood diseases are so severe that a vent and G-tube are needed, so it’s not beyond the pale in their world, not a foreign concept. Them living in the pediatric world makes a huge difference, this kind of metabolic team wouldn’t exist outside of that, at least in this hospital. Then there’s the fact that this team exists, is there, that the nurse practitioner actually will talk to you, you’re suddenly not completely isolated while working to survive. And the expertise with mitochondrial diseases, that is great…for years I’ve been eager to not be the only one in the room sharing mito knowledge, way ahead of everyone in info despite the fact that most of my information stems from 1980s understandings of mitochondrial disease, outdated and long-ago surpassed by the advent of genetic testing.   I desperately want to learn, to communicate about the disease… and even before genetic tests are back, I’ve learned so much about this unknown metabolic disease I have, like how deeply nutritionally-based it is (to the extent I don’t think it even “progresses” without a nutritional crisis or shock to the system triggering it to consume muscle for nutrients/ATP). We’ll know more soon, and I’ll share it with ya’ll once I know.

Mitochondrial myopathy is still under the “muscular dystrophy” umbrella, MDA ambassador Mattie Stepanek had it in similar form, I have never seen phenotypes as similar to my family as the Stepanek family… the difference Stepanek/me seem to have from DMD and SMA is the metabolic/nutritional roots of the disease, happening on a deeper cellular level with much more complicated processes.

Finally, I didn’t mean to scare people with my last long FB post, because I’m not sick, I was just talking about the chronic disease, and specifically our attempts to fix a nutritional problem we believed to be exacerbating the underlying metabolic disease. Probably it shocked people because I seldom write about the underlying condition, and the handful of status updates on health in the last four years have come only when something is really wrong, like I’m on IV antibiotics or something else related to pneumonia.

The thinking around disability in the U.S. is heavily tilted toward the discrimination and architectural barriers as the disabling factors, which they are, and I support that approach too, as such fixable disabling factors have been overlooked far too long. But the unfixable disabling factors, the mitochondrial myopathies and other forms of muscular dystrophy, the multiple sclerosis, the ALS, the spinal cord injuries and TBIs and so forth that cause the disability community to be made up of disabled individuals, are no less difficult because we look away from them in favor of focusing on the fixable.

In America with our “rugged individualism,” we’re all supposed to be super-crip, rappeling off any obstacle with a wire in our teeth, crossing the Sahara Desert with your hands, wheelchair on your back… the camel sitting in the wheelchair on your back instead of you sitting on the camel…I know, I know, I get it. But sometimes it’s okay to be honest, and definitely human, to share the harder parts of living with whatever disease is part of us.

In my previous long status update, I was talking about the problem that Dr. H identified, that my body was apparently harvesting my muscle for protein, and the visit to fix that… hopefully now, it’s fixed. Sometimes the apparently unfixable can be helped, if not cured.

Update of June 4th:

Hat tip to Raul for this; he’s a guy on a vent who has the TK2 mutation, and he found it out from being in an NIH study to identify cases of TK2 and other rare mutations that were previously unseen or misdiagnosed and they want to involve him in possible Columbia clinical trials of TK2 treatments.

…since August 2012 they have been trying different treatments on the TK2 mice. According to the below article, they’ve discovered a treatment that stops/slows disease in the mice… not yet does it reverse the disease but the current trial is to improve it enough to make the disease rewind a bit, not just the slow button.

http://mda.org/research/gaag/2012/summer/mm-michio-hirano-md

Update of August 1st:

I was diagnosed in early childhood along with Jamie, with “mitochondrial myopathy,” a fancy term for “something is definitely wrong with your mitochondria.”
Diagnosing mito was in its earliest phase at this point, and looked nothing like the mito diagnostics of today. University of South Alabama Medical Center, which ONLY included the antiquated old hospital in Toulminville and some offices around the main school off University Blvd at the time, was able to verify loss of the carnitine supplements given me coming out on urinalysis, not just carnitine deficiency but total non-absorption. This was deemed so unusual, so extreme, only mito weirdness could explain it.
But now, in the 21st century mito world, a diagnosis as un-specific as “mitochondrial myopathy” is a relic of an era long before genetic tests existed. Until the exact dysfunction is found, the diagnosis isn’t valid, it could be one of a bajillion possibilities. Which mitochondrial myopathy is it?

though I consider myself diagnosed in infancy, and consider even the generic diagnosis valuable for what to avoid (infections, potentially mito toxic drugs etc) I understand the need to grok the disease process and its causes in order to devise treatments. I want treatments, something to make my day-to-day experience even SLIGHTLY better, and I know we can’t get there with the current diagnosis.

As researchers unravel the mysteries of the metabolic processes that animate all life, the ordered complexity seems to approach infinity, like the laws of physics with their sub-atomic and sub-sub-atomic and sub-sub-sub-atomic particles, the order of which Einstein compared to seeing God.

While metabolism shares the complexity of physics it doesn’t have its godly elegance. Metabolism is messy; it’s more the Hebrew Bible version… sometimes you almost shect your son but don’t, sometimes your wife gets turned to salt, sometimes you’re Job!
But metabolic processes are mind-bogglingly complex, and mitochondria are at the center….
the different proteins the mitochondria have to import in order to create energy number in the hundreds
…hundreds of different proteins coded in your regular DNA that your mitochondria need, with different transfer mechanisms to get into the mitochondria, so without even getting into potential errors internal to the mitochondria or the mitochondrial DNA, there’s infinite potential for external problems… essentially healthy mitochondria can be starved of a crucial protein. In TK2 mutation, the pivotal TK2 protein is polarized wrong and can’t transverse the mitochondrial membrane… the TK2 protein has been flagged as a trespasser… TK2 Mongols can’t get past the Great Wall… defensive measures have been activated!
In theory, a mathematician with a supercomputer could list every possible combination of metabolic fails. It would be a number so big, the mind could only understand it as infinity ∞
This is why mitochondrial diseases are so devilishly difficult to diagnose! I, like many, won’t have my myopathy pinpointed excepting the miraculous new gene sequencing supercomputers. 
Two weeks ago, my gene sequencing came back negative for mutation of the TK2 gene … the quest for a more precise diagnosis continues. we have reason to believe that Jamie and I have regular DNA mutation that is causing the error of protein or protein transfer mechanism into the mitochondria… Separately, we have exome sequencing underway (the exome is the portion of the regular DNA that codes for proteins).

The exome sequencing has me, Jamie, Mom & Nana in the data set… comparing multiple family members/multiple generations of us provides points of reference and ways to make sense of tens and tens of millions of base pairs… see what’s in common, what’s not. We’re closing in on the baddie, and while the skin biopsy taken Monday afternoon may or may not provide insight through more extensive mitochondrial testing, I’m optimistic that the exome sequencing will pinpoint the exact mutation… we expect the full sequencing results no later than November 1st and possibly weeks sooner.

if we can find the problem protein we can possibly bypass it. Assuming it’s a bad protein, Columbia’s “molecular bypass therapy,” being trialed successfully on TK2 mice, might be very relevant after all…

Nick

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