Saturday, March 7, 2015

Plan of Care

Date: In Perpetuity

The State of Maryland
2015 Government Ave.
Officialdom, Maryland 30124

(Dear) Mrs. Stone:

We are not sorry and have no regrets that we cannot help your son (or you) maintain a decent quality of life with all the rights and amenities usually granted to citizens. If we admitted to apology and regret that would set a dangerous precedent for compassion and justice, to which we cannot hope to aspire. We do not hope you understand, we simply direct you toward understanding, whether against your will or willingly. You may take "understanding" in a religious sense, in accordance with your rights under the Constitution of these United States; however, we will not pretend to be God, even though we place our trust in him through our currency.

As for your complaints against us, we appreciate your gesture toward civil disobedience. However, please do take note: the law is the law, based on the precedent of the needs of white men during an age when disability did not indicate full citizenship and the rights of women were in relation to their male relatives. Thus, we have no statutory rationale with which to parse the issues you raise regarding your own rights and the rights of your son. If you continue to reject our plan of care for your child, we will watch impassively as your family breaks down under the burden of care and then send him to the institutional setting of our choosing. We see no necessary or statutory irony in that we will then be providing him with the 24-hour supports we have denied you for his care at home.

Regardless of the high cost of medical care and the difficulties you and your husband have earning income under our plan of care, your need for our assistance classifies you and your family as Indigent. Under both the law and tradition of the law, the State may compel the Indigent to do whatever we deem necessary in return for services. No, we are not staffed by sociopaths. Statute expressly prohibits our being labeled as such.

Please do not write to your congressperson again. He represents the collective voice of the people, and we do the people's bidding. Your fellow citizens have shown no interest in your plight because they have sent us no communications to that effect. At such time as your son becomes implicated in the rights of gun owners or the needs of the U.S. military, we will consider your case in detail.

We regret there is no appropriate salutation with which to end this missive.

Vox Populi




Thursday, March 5, 2015

Torture

Emotional response need not always be to scale, especially when proportionality (scale) cannot be reasonably determined.

During the Apollo 13 moon mission, a mechanical failure in the spaceship set off a cascade of problems which could have left the ship and astronauts unretrievable, floating in space forever. Gene Krantz, the mission commander at Houston, told his staff that failure was not an option. In the end, technicians literally fit a square peg into a round hole using ingenuity.

The military's like this: leave no man behind. Proportionality. War and space missions are big events; a significant response is required. The U.S. allocates spending according to scale: "big" issues and needs get more funding.

But the horrors of war, for me, have receded into far-away injustices and terrors. They are small. I've turned away from them because they don't affect me, the way some people over time have diminished the situation of parents with disabled children: the needs of your child are singular and don't affect me. Your situation is small.

Yet my situation is big. Robert and his illness are the machine at the center of our home. If he's functioning today, all the other parts of us can move. If he breaks down, sometimes the repairs are simple, but, more often, they require ingenuity.

Space and its stars and planets, the seeming loss of conventional navigation and location, that sense of seeing the home planet but being unable to reach it, a concern that we are unretrievable because we are small in comparison to space, lacking significance in our anonymity--one more disabled child, like all the other disabled children, stars like quantum particles far apart knowing still the tug of one another as familiar strangers. That was not a sentence because it lacked an active verb, a rationale for action, description in stasis as all around parts of the universe move of their own volition.

Failure may not be an option--is it ever? If failure were optional, I presume we couldn't call it failure, which is the stasis after all other courses of action have been set in motion.

I like the mug because it pretends to be inspirational when it's merely factual. Inspiration tends toward disproportion, which is why it's so effective. When something, some person is blown out of proportion, resources are brought to the field.

So the mug is practical because it animates the sentiment, we will leave no man behind. I need that sentiment, that disproportionate sentiment--because who is so important they cannot be left behind?--because if I left my son behind that would be the moral equivalent of a war crime. In your time of need, I betrayed you. No matter that your time of need is ongoing, constant.

Wednesday, March 4, 2015

Dwell

Actually, the word my mother used was "dwell," as in, "you dwell on things too much." This is a fair point. I think my mother comes from a family for whom "dwell" is a paradox. Place matters to them: the home, the location lived in continuously for so many years, a sense of permanence, perpetualness. (I will just riff off existing words as necessary.)

But at the same time, thoughts are not a place where one lives. Thoughts are private, especially negative or dark thoughts. These may be walled off or over, decorated with wall paper. I imagine most people do this, simply because it makes sense. While any one of my mother or her sisters would acknowledge hurt feelings, unhappy memories or serious happenings have occurred in their pasts, their custom has been to renovate life such that happy memories predominate.

I can't criticize them. My mother's parents had five daughters and those five produced nineteen children. For the nineteen of us, this dwelling they've made of happy memories and good times is a shelter in which we can take cover any time.

I am, then, the imperfect architect. Where I dwell, I cannot make the rooms even--some are sunny, some are not, and some are in disarray. A few rooms fill to the corners with recollections that are facsimiles of the same recollections, duplicated and re-copied and re-imagined such that the space would look like a hoarder's cupboard if only anyone could truly visualize this.

And I do hoard my thoughts because, honestly, I have to where Robert is concerned. Any memory, any bit of information, any sense of how to react better or worse than last time to any situation that I may have to revisit, even the memory of where the vending machines are in the hospital--all of this could be not only useful or critical information. I am the repository, the filing cabinet, the Feng Shui master of what it has meant for Robert to become Robert.

Dwell in or dwell on. My mother said "dwell on." Interior versus exterior. She thinks of the non-preferred sort of dwelling as "on" rather than "in." I told you we make a fine counterpoint to one another, because I guess I think I dwell "in" my thoughts. It has been a fine quality to have.

Although "Dwell On" would have a made a great title to a Led Zeppelin song.

Tuesday, March 3, 2015

Nine

I want to find an answer, but I don't know how. That's all.

That thought comes to me often amid what sometimes seems less the chaos than the carnage of my life all around me. The last few years have brought extreme change--the tearing down and the building up of structures of various levels of metaphysicality. Not a word, but it should be.

Ninth in the world, first in the U.S. There are eight others and I know nothing about them except one liners: a consanguineous family in Brazil, a person of indeterminate age in Germany who has, also, a heterozygous recessive case, but no de novo defect. So like Robert, but not quite.

I have always been afraid of the number nine. Not because Sesame Street gave me nightmares, but because at some point toward the end of high school, I picked up a book in the town library on numerology. I can't recall the title, although the book's cover always appears in my memory as black.

I stood with my shoulder against the bookshelf, those grey metal industrial shelves, leafing through it. One chapter promised it held the key to fates through a process of adding together the numerical value of names and birthdates. My numerical fate added to nine, which, the book informed me, was the worst possible number: it meant I would always come very close to achieving something, but never make it. My life would be a pattern of incompleteness, of almost always being there, yet never quite.

So I shut the cover.

Was I cursed?

If I had never opened the cover, never read the chapter, would the numerical value of my basic identity have held a silent secret metaphysical presence throughout my days?

One of my mother's favorite phrases is "self-fulfilling prophesy." That, and "famous last words." My mother thinks one can think too much, and has had a concern that I go over things too much. This is completely understandable. So we make a fine counterpoint to one another, like notes in harmony or occasional discord.

But there are times I wonder if I "go over" whatever it is enough times, maybe it will disappear. But this business about the number nine--bane of all digital representation, ridiculous drooping balloon on a stick--the whole thing stays with me and I cannot shake it.

I do believe if you over-think things, you may be able to re-invent them. Nine might be the penultimate, the number before the next deca-whatever starts. It may well be a sense of making it almost to the pinnacle but having to cede that to ten. But it's also a point of waiting, a point of attention, attendance, expectation. The moment before the page flips to, perhaps, an answer. The antechamber of possibility.

We waited for 14 years, 1 + 4 = 5, the number of perfect harmony of man and woman, to find our answer, which was a 9. Adding 9 + 14 yields 23, which digits add to 5. So we start again where we began: I want to find an answer, but I don't know how.

Wednesday, September 17, 2014

Yellow Wallpaper

I'm quite often silent these days when I'm in The Overwhelm, a black hole of tasks, too many requests for information and documents, as well as the unexpected medical adventure.

The weekend of September 6/7 began innocently enough. I had a new pair of Merrell's running shoes with bright green laces. I'd strained a muscle in my thigh several days earlier by repositioning the washing machine, which has a tendency to move about the basement; thus, I was eager to get out on the sidewalks of my neighborhood and see how these new shoes performed.

Near the end of the third mile and hoping for a fourth, as I headed up the gradual hill around the neighborhood park, with a bank on one side and wall-to-wall parked vehicles on the other, I noticed piles of super-size duffel bags, coolers, and other miscellaneous Little League equipment completely blocking the sidewalk. These new shoes felt so good, I decided on a non-recommended course of action: simply leap over the equipment, why bother to stop running and step around it?

Naturally, my decision became an epic fail as my left foot caught a strap on the duffel and I found myself briefly launched in the air with the single thought, "well, that was dumb." My left cheekbone hit the sidewalk a split second before both of my palms hit. I didn't even feel my right knee impact, hard. Both coaches came immediately to my aid with sincere apologies for blocking the sidewalk, helping me up, bringing towels I initially declined because why get blood all over those?, water, ice, and so on. I laughed and told them that maybe it would have been better not to have things all over the sidewalk, but that I certainly shouldn't have attempted to hurdle over it to begin with.

Mostly, I was fine: knee with a lovely sombrero-shaped edema forming, skin scraped off my bleeding cheekbone, bruise just under it, other assorted bruises and scrapes. Lucky: no damage to my eyes or nose, no broken teeth. One of the players stared at me solemnly and I said to him, pointing to my eye, "this is going to be awesome in the morning, isn't it?" He nodded. Word. It was a massive black eye the next day.

On Saturday morning, I rested my banged-up body in bed, a room down from Robert. Around noon, I heard, or thought I heard, the suction machine running and small cries of pain from my son. I wondered if the nurse were going too deep in his trachea with the suction catheter--she was new. I thought about hauling my body over there, but I heard Roger's heavy footsteps on the stairs.

Within less than 60 seconds, Roger's panicked shouts to come in. I did and walked into a situation it took my brain some time to process: Robert's trach was out, the nurse was holding Robert upright in bed, Roger held the ejected trach and Robert was spurting blood through his stoma as he coughed. Not dribbles of blood, but jets of blood arcing through the air. There's still blood-spatter on the opposite wall and the window.

Approaching Robert more closely, blood was welling up in his throat and he was gargling it away, blood bubbling and trickling down the sides of his mouth. My daughter said I screamed. I'm sure I did--she'd alerted Roger to the problem, while the nurse had not called for help at all. Some confused explanations from Roger, who'd walked in to a similar nightmare panorama.

The bottom-line was: Robert's trach had come out. We still don't know how, exactly, or why as the nurse's story has varied and was unsupported by the facts in the room as it was, the positioning of equipment, etc, Robert's state of half-undress. And why all the blood? That, too, remains an unanswered question. A dislodged trach can sometimes be popped back into the stoma; however, once a trach tube is placed, the insertion post (which has a rounded tip) is removed, and the end of the tube is cut away, rather than rounded, making re-insertion somewhat difficult.

Robert has a trach because his airway is compromised: he can no longer shift well between swallowing and breathing. Trach displacement not only severely compromises his ability to breathe, it opens the possibility of aspiration. A person with a dislodged trach will panic because he or she cannot breathe--in addition to that, Robert experiences the sensation of drowning because he can no longer manage his secretions. The nurse had been telling Robert to calm down--because if he just calmed down, she could re-insert the trach tube. Almost certainly, her efforts to force it in had caused the bleeding.

Displacement of the trach can cause swelling on its own, let alone trying to force the tube back into tissue contracting because the patient is gasping for air. This is why a trach patient always has two unopened trach tubes near him or her at all times: the usual size and a tube two sizes smaller. Both of these were sitting next to the bed in their appointed basket.

We need to put in the smaller trach, I most likely screamed. And I grabbed some gloves, started tearing open the box of the Shiley 4 and ripping the plastic around the tube, inner cannula and guide post. Brief pause while I remembered the tube comes shipped with the inner cannula in place and the guide post separate--why? Remove inner cannula, slip in guide post. I forgot lubricant, but, honestly, the stoma was slippery with blood at that point.

The nurse begins to complain that she is pregnant and it is too much for her to hold Robert upright--not the proper position for trach insertion, but laying him flat would cause him to choke on his own blood at that point. I tell her I understand that, but I'm performing an emergency trach procedure on my child. As I move into position to place the 4, the nurse slips away, leaving me holding Robert with one arm, the tube with the other--Roger has left to call 911. He returns because I realize I'm holding my child at the edge of the bed and I scream for him.

I try twice to gently slide it in and fail, and tell Roger to complete his call to EMS. While he calls, I manage to slide the 4 into place, pull out the guide (which the nurse tells me to do as I'm doing it--she's oddly calm and now seems to think she's my coach). Robert was taken away by the EMTs with excessive bleeding, a compromised airway, and disturbingly low O2 saturation rate (he'd had an airway in place for several minutes before they arrived, so who knows how low they'd been?).

I tell all of this because the nurse's story, as told to the nursing supervisor and others, has her performing all of the actions we performed that day: sending my daughter to get my husband, inserting the 4 herself (and thinking of it), no blood at all, and Robert leaving on a gurney at 98% O2 saturation on room air. Robert left on oxygen and remained on oxygen support until Sunday morning.

I had to tell this story several times over the next week while I hobbled around looking like my husband had beaten me. I grew tired of entering rooms and explaining my ridiculous running escapade to horrified faces--once you're at the hospital, there are a lot of those.

Robert ended up being OK. A couple of scopes by various ENTs at Suburban ER and Georgetown PICU showed no lasting damage to his stoma or trachea. The 4 was exchanged for a 6 on Sunday morning after the swelling went down. He stopped bleeding and coughing up bloody secretions. In fact, he wanted to go to school on Monday.

The episode left me shaken, obviously. First of all, it reminded me once again of Robert's mortality and how that now hangs on the smallest of things--a velcro tab that suddenly loses its grip. I'd prefer not to think of that. Each day he's with us feels right, normative, good. We love him.

Second, though, and it took until yesterday for this to build: the discrepancies between our version of events and the nurse's version of events hinges on the fact that as the parents of a child with disabilities, she can attempt to pathologize our behavior. My husband and I think her odd calmness wasn't shock, but an effort from the beginning to snow us into thinking we were crazy while blood was spurting all over the room and she did nothing to move to the next logical step to save Robert's life. Either that, or she didn't appreciate Robert's life, as though he were merely a bag of disability to be moved around at her convenience, hardly human, just a mechanism into which another mechanism must be inserted.

Yesterday, I lay on my bed with an awful head cold on top of the bruised knee and still healing eye. I hate being sick. So I started reading Kate Zambreno's HEROINES, an innovative critical study of the wives and women of the Modernist era, whose lives, work, and speech were pathologized as illness and insanity. Zambreno writes:
[Eliot's] theories of depersonalization form the foundation of the theoretical school called New Criticism, still the fundamental ideology governing how we read and talk about writing. One cannot portray emotions in excess (in literature or in life). This is a judgment not only of a work of literature but also of propriety, how one should behave. One must discipline one's text, one's self.
As I was reading this work, which takes on Eliot's theories of the impersonal, the objective correlative, all that, with which I'm familiar, more of my life grew familiar to me. How easy it is to pathologize my speech, my writing about Robert. How difficult it is to stand up in an IEP meeting or a PTA meeting or in front of a principal or a nurse or another parent and assert my child's dignity, my family's dignity, my dignity. I never know to whom I'm truly speaking--someone who will take me seriously or someone who will try to pass me off for crazy.

Because it is crazy, to many parents and administrators (not so much to physicians, despite the old bugaboos), to assert that your child, though severely disabled, deserves dignity. Other people may think he deserves sympathy or accommodations, but attempt to discuss equal citizenship or equal rights and a strange look comes over people's faces. Whatever Robert may be, he is not an equal, they think.

I've been almost literally patted on the head and told I was a "good mother" when I suggested to a family member that Robert's choice of colors and direction of lines on paint-your-own pottery showed thought and compositional effort.

I've been told serving "all" children at a school--the motto of the PTA in Montgomery County--doesn't mean what it says. That it means serving the majority. Who are typically developing. When I've pressed about bias, I've been told my child was an outlier and "we can't serve everybody." I am taking away from the needs of others, I am told.

I've been told by the actual special needs liaison to the PTA as I wanted to ask about building access for children in wheelchairs that she hadn't seen any children in wheelchairs or with mobility disorders at the middle school. And, furthermore, she said, "did you know that the majority of childhood disabilities are invisible?" Well, yes, I do know that, but it doesn't mitigate discrimination against those with apparent disabilities. Except that now that the PTA is willing to serve people with disabilities, they want to serve the majority, excluding, of course, people like Robert. I am selfish, it is heavily implied, to want to have my son included.

When the high school principal was determined to prevent my daughter from taking a more advanced science class, her relationship to her brother was pathologized: wasn't it stressful enough for her to deal with a disabled brother? We were, as parents, pathologized for wanting our daughter to be challenged.

My speech has been pathologized by physical, occupational and speech therapists. I am an anxious parent, a little crazy. I see things in my son that aren't there.

Except that they actually were--finding a diagnosis for Robert has removed some of these attempts to characterize me as unbalanced, selfish, greedy, delusional, overly-hopeful, etc.

The worst and most obvious, of course, came from one of my husband's brothers. Their attempts to pathologize the two of us as unstable grifters, using our disabled child for sympathy and as a means to grub money from hard-working people, our evident neglect of our daughter--these air castles had traction in a family that saw little of us, leaving room for imaginative invention. And how easy to turn me into a harpy--a crazy person obsessed with her child, detached from reality. The parting shots from my brother-in-law as I finally attempted to stand up for myself and reveal some of his dirtier stunts were 1) "Did you take your meds today?" and 2) "I SAID, did you take your meds today?"

Zambreno has a point that extends further than she may have thought.

My own pressing concerns as I lay in bed, overthinking everything because I had nothing better to do, had less to do with the past, the insults, the lies, the mischaracterizations. More to do with my worries at how my writing, about Robert, my primary subject, sometimes seems to be received. I'm certain I'm not being taken seriously by any number of literary outlets--although I know I'm taken seriously by many more.

Perhaps that's just the way of the world. I've written and sent out and received acceptances and rejections for too long to take much personally, except I've taken a set of rejections rather personally over the last few months. These have to do with essays about Robert that are based on the facts of my personal experience with health care, diagnosis, medicine, and also tell true stories crafted like fiction, short stories.

The current fashion in nonfiction is against memoir, which is story-telling, no matter how sophisticated. The majority of memoirs are written by women. Nonfiction, a cowgirl genre without many rules, is increasingly subject to what Zambreno describes as "the idea that one must control oneself and stop being so FULL of self remains a dominating theory around mental illness, and, perhaps tellingly, around other patriarchal laws and narratives, including the ones governing and disciplining literature."

Facts! We must have facts in nonfiction--supported by outside authorities! Every essay is a research
paper, guided by minds stronger than ours. Note, for example, these guidelines for an essay contest:
Submissions must be vivid and dramatic; they should feature a strong and compelling narrative and reach beyond a strictly personal or anecdotal experience for some universal or deeper meaning. (Put another way: something should happen, and it should matter to readers.) Our readers also like to learn new things: tell us something, whether it’s about the history of clocks or how the mind processes time, or maybe about how waiting-period laws vary from state to state. We’re looking for well-written prose, rich with detail and a distinctive voice; all essays must tell true stories and be factual accurate.
When I read this, my mind prefaces it automatically with "Now, Ladies ..." We don't want your personal stories, as those couldn't possibly hold a deeper meaning. Those words couldn't matter to readers. Back up your own insights with the insights and observations of people with more authority than you! People who write about clocks! Scientists who study the mind!

Lately, I've gotten several rejections with handwritten or personal notes stating how moved editors were by my story about Robert, how much they enjoyed reading it, expressing concern for my son and my "journey", wishing us well--and saying that my essay is "not for us." While I know better than to pick apart a rejection (just move on), the only way I can make sense of these is to understand that these editors have been pathologizing my carefully crafted speech about my subjects: disability, medical care, bias, etc. I'm not a serious author; I'm a mom writing about her child, writing with understandable emotion, but, still ... I am an emotional train wreck, although I'm careful to temper emotional content in my work. God forbid anyone publish emotional slop.

I've come to realize, working through the world of caregiving and illness and disability, that many people purposefully misread the speech of caregivers or persons with medical issues: there are two acceptable modalities, joy at overcoming obstacles and grief. Joy is often patronized because no one truly understands the magnitude of the stakes. Grief is offered no active solution, just a shoulder to cry on. We are actively dis-composed, highly emotional and messy people. We cannot possibly be composed, rational, logical, funny. It's a way of pushing away what you'd rather not think of, of dismissing ideas and people who make you uncomfortable, insights you'd rather not ponder.

In between these poles, however, lies tremendous insight into the human condition. I could write something about waiting and clocks and disability and medical care, but that would be channeling a story no one really knows or wants to understand into a false narrative so that someone can neatly brush it from their hands as cliche because, well, this fits the narrative of either joy or grief with which we're so familiar.

Yes, there are too many submissions. Yes, it's hard to pay attention to all of them. No, I'm neither special nor a genius. Yes, it's possible these were rejected because they're just not good enough.

There's no yellow wallpaper on the walls of my bedroom--but they are painted a pale yellow. At least I'm up now, out of bed, almost ready to go running again. Once again balancing my needs against Robert's. It's difficult, you know, the absorption of my own self into his and vice versa. Part of what both parent and child need is separation. On my darkest days, those days of the false eerie brightness of the yellow wallpaper, when this whole thing threatens to obliterate me, those days I sense my entrapment, as do other women I know. What will happen to us? Where have our lives gone? We deny it, of course--that's how we survive. No one likes the emotional breakdown. Especially not editors.

Once again, Zambreno: "I use the term 'madness' here to describe these women's alienation, because I see their breakdowns as a philosophical experience that is about confinement, or even death, of the self. This gesture of confinement, of exclusion, occurs when we speak of and name the figures of literary modernism: Us versus Them. The mentally ill ones versus the geniuses. But who gets to decide?"

I don't know and I don't care at the moment. At least I'm free of the room with the yellow wallpaper. And I have shoes designed for running.

Sunday, August 24, 2014

Faux-Hawk

Robert wanted a new back-to-school haircut. One of his aides who comes to the house has a faux-hawk, very close on the sides, with a comb-over. The comb-over won't work with Robert's curly locks.






Still, we gave it a shot--a little gel, maybe some spray-in hair color, as the days go by in the next few weeks. Gotta have something new to work with, you know?




Robert looks happy, though, with the end result! 








That is, when he's not going for the tough and rugged look. London calling ...

Thursday, August 21, 2014

How to Re-think the Ice Bucket Challenge (or the Next Moon Race)

One of my always smart and thoughtful friends re-posted the following from the Facebook page of Breast Cancer Action:
The ALS #IceBucketChallenge. Darling of social media, engaging to members of the public and celebrities alike, championed and lauded as a fantastic way to raise awareness of ALS (Amyotrophic Lateral Sclerosis). Source of millions raised for this devastating disease (BCAction’s former Executive Director, Barbara Brenner died of ALS last year).

We are approaching illness and healthcare assbackwards if we continue to determine which diseases get critical research and support dollars based on the appeal and fun factor of their fundraising campaigns! This is a mad way to confront illness and disease. In this new world of philanthropy by popularity contest, the future looks very scary. Only diseases lucky enough to be the beneficiary of a viral, “fun” campaign will capture public attention and funding. Savvy marketing, motivated self-starters, random acts of kindness will determine who gives a toss about people dying and the disease or illness they are dying from. 
This haphazard approach to healthcare and research funding isn’t the solution. No single life-threatening illness is more deserving than another. But all this wonderful generosity from a caring public willing to embrace the cause of the day serves as another nail in the coffin of a different kind of solution to illness, disease and ill-health—a solution that requires government funds, public money not private giving, that ensures people everywhere are able to access quality healthcare; that makes decisions about the allocation of research dollars based not on cyclical fads or randomly successful, social media campaigns but on evidence-based needs and outcomes. 
The #IceBucketChallenge is well-intentioned and has raised a lot of money for the ALS Association. But this disease-by-disease popularity contest approach to funding research is not a sustainable way to confront illness and disease and pushes responsibility for public health onto the private sector. This takes us in the wrong direction. We all deserve better.
The post makes several good points: no one suffering from illness should die for lack of a "fun" media campaign; our country's approach to funding disease research is haphazard; private giving on social media can sometimes make this worse by turning funding into a popularity contest; and it isn't fair that some illness get lop-sided funding advantages. My friend was right to re-post this and right to agree. It's right generally to question the over-the-top success of the Ice Bucket Challenge simply because in the Internet era, anything that goes viral, almost by definition, distorts our typical perspective.

I write in agreement with all of these things having used social media to raise funds in order to access genome sequencing for my son. That's the way we found a diagnosis for Robert. Dystonia 16 has a known cohort of 9, including Robert. The NIH Office of Rare Diseases Research notes that a disease can be considered "rare" if it is "generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States." Note that there are gradations of "rare."

www.astrochem.org
And this, of course, raises the issue of why anyone should care about the fact that Robert has a disease that is known to affect only 9 people worldwide. Robert is the only known U.S. case. So I do take issue with BCA's reflection that a solution to funding problems consider "allocation of research dollars based not on cyclical fads or randomly successful, social media campaigns but on evidence-based needs and outcomes."

Once that phrase is uttered, we're right back to popularity contests, but in a different context. Breast cancer deserves a lot of funding because it affects a lot of women and there are measurable outcomes in terms of treatments and survival rates. The same is true of any number of large cohorts of diseases. Furthermore, contrary to what we might think, we cannot count or not expect the government to be "fair" in terms of appropriations. It won't be. We live in a democracy, which at its most basic, means that we have majority rule. The entire process of government is, in fact, a sort of popularity contest--we hold popular elections, elected officials need to please constituents in order to fulfill their campaign promises, interest groups with large cohorts have the funds to effectively lobby Congress, and that includes all of the major disease cohorts.

In Congress, there is no Fairness Office. The closest we may come to that would be the House and Senate Appropriations Committees. Yet being chair of either of those is the biggest plum a congressional member can get. All of a sudden, you're the most popular person in Congress! Because you hold the keys to funding ANYTHING--Congress can pass any legislation it wants, setting any funding level it wants, but then there's the appropriations process. The appropriations committees can declare there's no money: you've heard of "unfunded mandates," right? I'm not suggesting that Congress simply plays favorites or that the respective chairs of the appropriation committees and subcommittees are corrupt. In the end, however, majority will rule, the level of attention an issue gets matters--the number of emails that arrive, the phone calls, the concerned citizens buttonholing the member when he or she is back in the district.

The National Institutes of Health (NIH) can get all blue or red in the face about how to fund in a fair manner all of the diseases their researchers research. Congress can ignore that because Congress sets the budget of the NIH. But listen to this: there are 7,000 RARE diseases in the United States affecting 25 million persons. Those are just the rare diseases. How do you sort this out? Using evidence-based medicine with quantitative outcomes while people are suffering and dying? In that scenario, the DYT16 cohort of 1 is told, well, we can't justify allocating any money to your cause. You're just the one person.

Let me tell you more. There's rare and then there's unknown. In 2011, the NIH accepted applications for participation in its Undiagnosed Disease Program, funded annually at $4 million (the NIH is funded at approximately $34 billion). The program could accept 500 applicants--in July 2011, the UDP had to close applications because it had already received 1,700. The nonprofit group Rare Genomics Institute, which helped us raise money for sequencing and provided appropriate geneticists to interpret the results, held conversations with the UCP during the time RGI was mobilizing to start helping children with unknown diseases. Government officials told RGI representatives that they were optimistic genome sequencing could lead to breakthroughs and that, if they had the funding, sequencing would be one of their priorities.

Between 1990 and 2003, the NIH along with partners sequenced the human genome at a cost to taxpayers of $1 billion. In so doing, the Human Genome Project unlocked the mystery of how many protein-coding genes there really were: in 2014 estimated at 19,000 (down from about 26,000 in 2003), but the initial estimates in 1990 ranged from 50,000 to 140,000. By sequencing each protein-coding gene, or exon, the NIH established for which protein each encodes and how.

The NIH sequenced everything--all 3 billion base pairs of nucleotides in human DNA. The exome (all of the exons) accounts for only 1.5% of our genome. Most of the rest are referred to as introns--these used to be thought of as non-coding or "junk" DNA that had merely traveled with us over time. However, cancer researchers in particular are discovering that the intron portions contain biochemical switches that activate, under certain conditions, different encoding patterns that initiate disease.

In other words, the Human Genome Project's initial big push was just the beginning. We need to know more about the entire genome. Robert, for example, won't be much helped by general dystonia research, because each dystonia is caused by different defects in different genes, so one therapy doesn't really fit all. Robert has one reported or known defect and one de novo defect, meaning that it has never before been reported in any disease anywhere at anytime. The course of his disease is much worse and in some ways different than the other 8 cases.

In February 2001, Francis Collins, Director of the NIH, announced the major findings from sequencing 90% of the genome and said of the entire genome:

"It's a history book - a narrative of the journey of our species through time. It's a shop manual, with an incredibly detailed blueprint for building every human cell. And it's a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease."

Understanding the human genome is the next moon race--and it's what will accomplish "fairness" with disease funding. If the U.S. pours an enormous amount of funding into genomics, we will be able to understand diagnoses such as Robert's that we currently file in the "good to know" categories of our brains. First we analyze, then we understand, then we sort out treatments. We know what wrong protein each of my son's alleles encodes for, but what effect does it have on the body? How can it be arrested or reversed?

In fact, more research on genomics as a whole, on the genome as a whole--not just constituent parts--will shed light on any and every disease. The human genome isn't just a constellation of aggregate parts--genes work in concert, and one genetic finding might have applications to another genetic problem. But that requires cooperation and not competition among disease cohorts.

No, funding for disease shouldn't be a popularity contest; however, it will be in one form or another until we, as a nation, decide we're willing to sink a lot more money into genomic research on human DNA as a whole.