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.
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.
Update of August 1st:
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.
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.
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…