Pleistocene horse race. The three coat colors depicted in this video all predate the domestication of the horse around 10,000 years ago.
Pleistocene horse race. The three coat colors depicted in this video all predate the domestication of the horse around 10,000 years ago.
[This story describes the decade-long struggle to obtain permission to clean up a small urban watershed. Cayman Chemical purchased the property including a small stretch of Mallet’s Creek in 1997. Applications to clean up the degraded stream were first submitted in 2001. Final approvals from all regulatory entities was never received. Clean up was initiated anyway in 2014.]
Public institutions, many of them with specific missions to preserve nature, are the biggest impediment to conservation in suburban America. Together with other governmental agencies with no conservation mandate, they effectively prevent any meaningful remediation unless you are willing to wade through their red tape for dozens of years.
Mallet’s Creek is an urban waterway that originates in a marsh near the Ann Arbor airport, winds its way for a few miles through the southeastern part of the city, and then empties into the Huron River. Concrete walls and limestone rip-rap dominate much of the stream bank, and the invasive, European strain of Phragmites australis chokes the rest of it. In heavy rainstorms, its flow increases more than one hundred fold as the runoff from many acres of adjacent parking lots and flat roofs suddenly pours in. In the winter, its salinity surpasses that of the Great Salt Lake as concentrated brine seeps into it from heavily salted roadways. This event sterilizes the creek of all living organisms below the waterline.
Mallet’s Creek before reclamation efforts
Mallet’s Creek after reclamation efforts
The stream emerges from a concrete pipe and flows for 87 feet across the campus of Cayman Chemical in Pittsfield Township, exiting into another pipe under Ellsworth Road as it enters into the City of Ann Arbor. When my company bought the property in 1997, the creek was a sludge-filled dead zone of decaying plant material and roadside trash. Its fate was mediated by the conflicting authorities of the Pittsfield Township Zoning Authority, the Washtenaw Country Road Commission, the Washtenaw County Drain Commission, the Michigan Department of Natural Resources, the City of Ann Arbor, and the US Environmental Protection Agency. In 2001, we began the application process required in order to enter into this “wetland” to remediate its degradation. We started the work three weeks ago, and we finished it yesterday.
Our reclamation project was sharply constrained by the unusual ecology of this waterway. We had to plan for flow conditions of essentially zero for several months at a time, increasing to more than two cubic meters per second in three to four annual flooding events. The mid-winter brine catastrophe had to be contained within the smallest possible volume at the bottom of the stream bed and refugia for plants and invertebrates created so that the lifeless bottom could be quickly re-colonized in the spring.
Our vision was to recreate, in this short section of creek, an ecosystem more reflective of the pre-human conditions about 10,000 years ago, at the end of the last glaciation. The overall flat and anaerobic bottom profile was re-sculptured into a narrow V-shape. This was lined with a mixture of rocks and boulders taken from local glacial moraines now mined as gravel pits. The sand and gravel was layered over the underlying muck providing a well drained, but relatively nutrient poor substrate for native plants. Some of the larger boulders weighing between five to seven tons were placed by heavy equipment, in a random pattern typical of glacial erratics.
The Black Curtain of Death (BCD) that we erected for a few days to mollify one of the local authorities. See additional post.
To address the winter die off and spring re-population, we created a refuge wetland running to the east along Varsity Drive. A dam of boulders about 18” high creates a lip that prevents the road brine from backing up into this side channel, which is spanned by a pre-stressed monolith concrete bridge to accommodate the sidewalk.
This refuge wetland extends more than 200 yards along the road, where it reaches a deep, permanent fresh water pond. The entire watershed for this pond consists of the lawn and sidewalks of Cayman’s main 1180 research building. That is important, because by instituting a minimal salting policy on our own property, we can insure that this body of water retains a normal pH and conductivity throughout the winter. Each spring, we can flood both the refuge wetland and our newly reclaimed creek with fresh water, arthropods, and all of the normal inhabitants that have not survived the harsh roadside conditions.
Over the course of the next 12 months, we will steadily re-introduce native plants, while we monitor for the inevitable return of Phragmites. A big bottle of Roundup is an essential when the creek in both directions is a monoculture of this invasive reed. Active management is the keyword when working to maintain a diverse ecology in these difficult circumstances.
Conservation boils down to an issue of trust. When we entrust conservation to a single public entity, like the National Park Service, it works in many cases because there is only one executive agent at the table. The Park Service has numerous failings, as I outlined here in my book, but in general they have kept large tracts of public land in a relatively clean and unspoiled condition. When multiple public entities claim jurisdiction of increasingly small tracts of land, as was true in this case, the result is complete paralysis and degeneration of the resource to its worst possible condition. A monoculture of invasives is tolerated as the status quo. Road salting, which has never had and would never pass an environmental impact study, is allowed to kill off entire ecosystems wholesale. Completely failed and ineffective practices (please see “Rant”) continue for years because they give a theatre effect of seeming to do something.
Private citizens and corporations like Cayman should be likewise entrusted to be the single entity empowered to improve their own “sensitive” environmental properties. When only remediation without concurrent development is proposed, all of the red tape and regulations we waded through should simply be waived, and each public body claiming jurisdiction reduced to the equivalent of cc status on an email. They should be copied on the work plans as they progress, but should be rendered powerless to obstruct them until the work is complete. At that time, they can either sign off and approve the remediation as completed, ask to have further improvements made, or file a lawsuit if they feel there has been gross misconduct and unlawful activity.
What did all this cost?
I will close with a photo of Mallett’s Creek where it emerges from our project and courses into Ann Arbor. There’s still a lot left to be done. L3 Communications is the next good steward of the land in line. This photo speaks for itself.
As Mallet’s Creek Continues…
In December of 1999, the US Environmental Protection Agency promulgated a series of regulations addressing storm water discharges (CFR 64 FR 68721 (PDF)). These regulations require that “suitable barriers” be erected around all construction sites and places of disturbed soils with the laudable goal of preventing storm runoff during the construction phase from filling nearby streams with silt and mud. They did not specify if “suitable” meant effective for the stated purpose, or convenient for the relatively untrained persons who inspect local building sites.
With no guidance as to what “suitable” means, all responsible state and local enforcement agencies went wholesale for Theatre. Unable to grasp the complexities of low profile, porous sand and gravel berms and dikes that would be unique to every single site, they decided instead to define compliance as the act of surrounding the entire site with a 16” tall black plastic ribbon. The Black Curtain of Death (BCD) was born. No construction project anywhere in America is allowed to break ground without first spooling hundreds of yards of PVC plastic around itself like a banner to proclaim full compliance with the letter, if not the intent, of the statute. Flimsy, awkward, and utterly incapable of retaining even a fraction of the water that could impound behind them in a small rainstorm, the BCD was an overnight sensation for the PUBEs* of local environmental enforcement. Easy to see – easy to fine any contractor without one – more time to check up on the activity in your 401K.
There is a rich history of Theater in lieu of Substance in government, but probably none so special as the Transportation Safety Administration, which has been lampooned by others, [See the South Park episode on the Toilet Safety Administration] Essentially the entire budget of the TSA is spent to create a theater effect of airtight security when such is not actually the case.
TSA staff seem to be selected solely as display mannequins for the fake “policeman” shirts that cost taxpayers $50 million, or $350 each. This emphasis on surface area also makes them dim witted, slow moving human shields with enough BMI to shield any skinny terrorist who might want to use them with a huge margin of safety. But I digress…
The life history of a BCD is simple. They are mauled by heavy equipment around the site and are soon partially buried. They collapse and are overrun with sediment in those small sections where they actually stand in the way of storm runoff. They become an afterthought buried in weeds. Some are eventually pulled back up and hauled to a landfill, but most are simply buried in place, a twisted plastic corpse lying a few inches under the topsoil of the project’s final landscaping.
A BCD in failure mode at the intersection of Maple and Liberty in Ann Arbor—actually obstructing the sidewalk
Since 1999, the US annual production of this disposable plastic item has gone from essentially zero to more than 800 million pounds. Petroleum products that might otherwise have served a useful purpose like power generation or transportation are converted instead into theatrical black plastic, and then buried. No sediment is retained by them, no pollution is prevented. Instead, the BCD spends a short period of time as a stage prop, maturing into 100% solid, un-recycled waste.
There is, of course, a simple solution to this. The EPA could affect it with a simple addition to the CFR. Congress could do it by dropping a single sentence into an appropriate bill, like the Clean Water Act, or any omnibus piece of legislation that pleases their fancy. It would state, “It shall be unlawful to use plastic, metal, or any artificial or synthetic material of any kind in the construction of temporary sedimentation barriers for the purpose of compliance with CFR 64 FR 68721.” Boom. Now you’re left with sod, straw, gravel, sand, rocks, and sticks. Any 8-year-old could have told you in the first place that those are the best things for making dams.
*PUBE is an acronym for Public Employee, a malingering sub-population within all those who are compensated directly or indirectly by taxpayers via any of the myriad local, county, state, and federal bureaucracies. Their health and pension benefits are excessive, their income unearned. They neglect their public responsibilities mainly for personal gain, but also to advance the agenda of the political party owning their fealty. Dr. Nicole Lurie is a PUBE. Had she been doing her job as Assistant Secretary for Preparedness and Response at HHS which is, “…to lead the nation in preventing, responding to and recovering from adverse health effects of public health emergencies” there would be no 2014 Ebola crisis. There would not have been a need to appoint a second, new “Ebola Czar” (see also ‘Theatre in lieu of substance’). But Ms. Lurie was actually spending her time trying to route federal research dollars to Ron Perelman, a large Democratic donor, so she was unaware that there was such a disease.
Shortly before his policies in the Middle East imploded on themselves, dragging Obama into his latest, twitchy, defensive, mouse-in-a-corner foreign policy debacle, he was trying to focus our attention on climate policy. In keeping with his other recent regal edicts, he ordered the EPA to order the states to order their power companies to reduce carbon dioxide emissions by 30% over the next 15 years. To emphasize the obviousness of this move, he snarked that anyone who opposed his policy must think the moon was made of green cheese.
Curious to know what effect this policy might really have on the amount of CO2 in the atmosphere, I turned to the well known Keeling Curve. (See Figure 1.) Each day, the concentration of carbon dioxide at the summit of Mauna Loa is determined, with an accuracy of 10 parts per billion, and reported to the general public via the NOAA website.
Figure 1
On June 2, the day of Obama’s proclamation, the concentration was 402.15 ppm. Just now, the concentration is 397.76 ppm, or 0.039776%. In the last two months, the value has plummeted as photosynthesis in the northern hemisphere summer dominated the carbon cycle in what can only be described as the planet Earth inhaling. For as long as man has made these measurements, starting in the 1960s, there has been a pulsatile, seasonal rise and fall in the measured concentration of atmospheric CO2. This got me thinking… who is really in charge of atmospheric CO2 anyway? And how much CO2 are we talking about?
The EPA reports the total US energy-related CO2 emissions in the latest full year were 5.290 x 109 kg. If you plot the amount of US energy-related emissions for the last 15 years against the Mauna Loa data, you can see right away that there is no correlation. The r-value is -0.45, which means that as US emissions gradually declined by about 12% since 2007, the amount of CO2 in the atmosphere marched steadily upward. There are at least two plausible reasons for this. Unlike the Mauna Loa data, which is a precise number measured by calibrated scientific instruments, the EPA number is, basically, a guess. No one sits atop the chimneys of power plants metering out the emitted gasses, and no one really keeps track of the fuel burned by locomotives pulling mostly coal cars but also some cement cars… you get the point. But if one concedes the point that the EPA estimate is at least in the ballpark, it is plausible that this amount of CO2 simply isn’t significant, in the grand scale of things. So let’s think about that…
In order to find the mass of the entire atmosphere, one must multiply the surface area of the Earth, 5.1 x 1014 m2 by the pressure exerted by the atmosphere at the surface (101,325 Pa (or N/m2)) divided by the force of gravity (9.81 N/kg), giving 5.27 x 1018 kg.
In order to find out how much of that is CO2, you multiply that number by the Mauna Loa percentage for the date you have in mind. Since Mauna Loa data is reported as ppmv, one must first multiply that number by 1.519 to normalize the molar mass of CO2 (44.09 g/mole) to the mean molar mass of air (28.97 g/mole). On June 2, the day Obama declared atmospheric marshal law, there was 3.219 x 1015 kg of CO2 in the air. Eight weeks later, there is 3.184 x 1015 kg, for a net reduction of 3.5 x 1013 kg. Meanwhile, US power plants were emitting 8.1 x 108 kg. That’s five orders of magnitude smaller – as in, man’s contribution to the carbon cycle is 0.001% as large as nature’s. Houston, I think we have found the problem.
There is 1,650,000 times more CO2 in the atmosphere than is generated by the US power industry in one year. Over the last 8 weeks, the net negative flux of the natural carbon cycle was 39,000 times larger than the tiny positive contribution from total US energy production. Visually explained, because the US power industry generated CO2, the large black rectangle representing all of the carbon pulled out of the air by natural forces in June and July has this little white hole in it, as illustrated below. Obama is proposing, at some cost, to make that hole 30% smaller in 15 years. I hope that any persons looking to this president for decisive actions (the Yazidis and Ukrainians come to mind) will have a look at this graphic.
In June and July 2014, the white square represents the US power industry carbon output relative to the magnitude of the natural carbon cycle.
Since global atmospheric CO2 concentration and US energy-related CO2 emissions have had no correlation with each other for 15 years, it can be expected that they will remain without any correlation for the next 15 years as well. Since the annual flux through the carbon cycle is so much larger than US power emissions, stating that reducing US power plant emissions 30% will reduce global warming is like stating that a boy peeing in the Mississippi river will flood New Orleans. Any true scientist can state, with conviction, that there will be no detectable impact of this EPA policy on the amount of CO2 measured in the atmosphere. Any reasonable observer could likewise state that impacts on the economy and power industry, whatever their magnitude (which may be considerable) cannot be justified by any balancing environmental benefit.
Some years ago, Mark Twain noted, “In politics, people’s beliefs and convictions are in almost every case gotten at second hand, and without examination, from authorities who have not themselves examined the questions at issue, and whose opinions about them are not worth a damn.”
It is June and time for that twisted corporate introspective agony called the Annual Employee Performance Review. There is something slightly Maoist in the idea that, once every year, each employee-supervisor pair should turn on each other and start rank ordering their superlatives and deficiencies like some poor couple in marital therapy. It’s been my experience that more harm than good comes of this. Since I also do my own scathing self-review (Organization: Abysmal. It is demotivating to many of those who work around me to see to what degree my own work is in a shambles.), I had a chance to comment on my own compensation.
I make $300,000 per year running a company of about 300 people with global annual revenues of about $40 million. Fortunately, the New York Times recently reviewed CEO compensation in a piece that I picked up on Twitter, allowing me to make some comparisons and develop two simple guidelines for setting appropriate CEO pay.
Virtually all of the corporate CEOs compensating themselves at rates shooting past $100 million each year are doing so not because they have earned it or because they deserve it—they do it because they can. That is the same reason Viktor Yanukovych built himself a mansion containing a white Steinway piano modeled after the one presented to Yoko Ono by John Lennon. That is also why Muammar Gaddafi and Saddam Hussein [fill in any excess you find most grotesque].
The role model of the CEO should be that of a statesman, not a tyrant. His personal ambitions should be modest, while his ambitions for his staff and their enterprise should be unlimited. So if you want a raise, masters of the universe, add $5 million to your corporate sales, add $5,000 to the pay of your newest and brightest—and I’m sure you can do the math from there.
The piano of Viktor Yanukovych, President of Ukraine from 2010 to 2014.
Note added in proof: Application of these CEO rules to my own pay caps compensation at $340,000/yr. However, it was determined that my pay change will be 0.0%. The time being wasted writing and researching irrelevant topics for my personal blog as well as the time spent idly chatting on social media such as Twitter were duly noted. That is, performance issues have delayed the full actualization of my reward potential. Only HR could make it sound so positive.
On a cold February morning recently I checked the Great Lakes Environmental Research site and found that only one of the Great Lakes had any waves on it. Superior, Erie, Huron, and Ontario were frozen solid. A small peanut of Lake Michigan remained partially liquid and filled with floe ice. The same map also shows me that I could drive a snowmobile straight from St. Joseph, Michigan to Chicago, Illinois avoiding all the traffic on the interstate. On one hand I’m exhilarated, because I may personally witness in the winter of 2014 the first complete freeze of the Great Lakes in recorded history. Yet on the other hand, I’m disgusted by the chicanery, incompetence, self-righteousness and posturing of the so-called “climate scientists” who assured us that the opposite of this bitter weather would prevail in the 21st century. It is not so much that they made such a prediction and were wrong. My emotional overtone springs from the fact that, through politicization of their alarmism, they were just ginning up the funding mechanisms to allow them to spend poorly even larger sums of money in the service of predicting future climates badly.
Contempt is a poor prognostic indicator for any future reconciliation between disputing sides in a conflict. Upon reflection, it is surprising that I would find myself in such an intractable state of disagreement. I myself am a scientist. I’m naturally sympathetic towards other people who study things in detail and make discoveries about those systems or objects, even when those discoveries are counterintuitive or unexpected. I actually do read the peer reviewed literature that pertains to climate, and find many of the authors publishing there to be competent scientists making credible observations, carefully restricting their conclusions to those that are supported by their data. I also browse through news reports and social media, reading what various advocates and journalists say and write about climate. This led me to follow a recent Twitter post by Carl Zimmer, that took me to 173 pages of congressional testimony by Andrew E. Dessler, that brought me to the crystalline, cathartic comprehension of the source of this winter’s ill will.
But first I want to point out the work, unnoticed in the press and generally unheralded, of some real climate scientists.
Professor Christian Berndt is a German scientist working at the GEOMAR Helmholtz Center for Ocean Research in Kiel, Germany. In January of this year, he and his group published a detailed study of the release of methane from submarine arctic sediments off Svalbard Island in the North Atlantic. In 2008, passing ships had noticed vigorous outgassing of methane in a narrow zone of water about 400 meters deep, and this was interpreted by some as the onset of catastrophic methane hydrate dissociation caused by global warming. Methane matters, because it is 30 times more opaque to infrared radiation as CO2 is. The GEOMAR team made several expeditions to the area, made parametric echosounder profiles of the area, photographed the bottom sediment features of the gas release sites, and made a continuous 21-month bottom water temperature observation at the site. They observed carbonate precipitate crusts up to 40cm thick indicating that methane had been oozing from these sediments for at least 3,000 years, and that it was being oxidized by benthic microbes. Based on the recorded temperature profile, the authors deduced that there is a seasonal growth and decay of methane hydrate deposits along the continental shelf that has been stable for many centuries. This work was characterized by the generation of much new data through direct observation, not by computer modelling of existing data. The conclusions were limited, in that the authors admit that we do not have any precise knowledge of the global methane budget. We do not know how much methane is released worldwide or where it comes from; we do not know why the atmospheric concentration of methane stopped increasing about 15 years ago, or why it began increasing again in the last few years. But we do know, thanks to their data, a lot more about this one source, and that it is not coupled in any way to global warming.
Andrew Dessler gave testimony in the US Senate with respect to President Obama’s Climate Action Plan on January 17, 2014, the same day that Professor Berndt’s paper published in Science. By way of background, Mr. Dessler’s previous employment experience was with First Boston Corp in the investment banking industry, and then as a senior policy analyst in the Clinton White House. That is to say, he has apprenticed in the two largest criminal con games operating in America – banking and politics. A review of his sparse peer reviewed publications reveals that he is a climate modeler. That is, he does not actually study climate, he takes the data generated by real scientists such as Dr. Berndt and plugs it into computer games that he programs using public funding, yielding improbable projections of future climate that are almost certainly incorrect. A summary of more than 100 of these contradictory computer climate models recently appeared on Steve Goddard’s Twitter feed.
A hockey stick of useless, exaggerated climate models http://t.co/lVYcv2gy29 pic.twitter.com/XaHfdTN6qx
— Steve Goddard (@SteveSGoddard) February 11, 2014
It may be of little consequence what I think of Andrew Dessler, but what is so telling is what he thinks of himself. On the third page of his Senate testimony, which reads very much like a political position paper, there is a little footnote 1 after the sentence “The actual amount of warming over the last century roughly matches what is predicted by the standard model of climate.” Then, at the bottom: “1. Following particle physics and cosmology, I’ll refer to the mainstream theory of climate science as the Standard Model. A climate model is a single computational realization of the physics embodied in this standard model.” So…Mr. Dessler thinks of himself and his faulty computer model as being on a par with the Standard Model of particle physics. Not only does he rub shoulders and share the stage with Einstein, Bohr, Schrodinger, and Feynman, but also more recent Nobel laureates Sheldon Glashow, Steven Weinberg, and Abdus Salam. With a pompous grandiosity that induces vomiting, Dessler tries to paper over the absurdity of his jury rigged algorithms with the wizardry and precision of physics. He’s nothing if not generous – every single climate model that runs and generates ‘roughly the same amount of global warming’ gets to be equivalent in importance with the foundations of particle physics and the fundamental properties of all matter.
I am driving my 4×4 pickup through 20 inch snow now on the weekends, to cut firewood that I could have cut a lot more easily in September. My mare is due to foal in 4 weeks, and I can hardly afford to heat her barn with propane now that the price has doubled. I could have bred her a month later, and filled the propane tank in August. Michigan is having one of the coldest winters ever recorded. This was not predicted six months ago by long term weather forecasters. But in the 1990s, the opposite of this was vigorously predicted by climate forecasters. They were wrong. Humans are currently unable to predict either seasonal weather or long term climate with an accuracy that allows actionable steps to be made by ordinary people. This state of affairs will likely continue, because the likes of Mr. Dessler consume an inordinate amount of the scarce public funding available to actually study climate. Unnoticed and underappreciated, the true scientists in the field who make no alarmist statements and who generate real measurements and data find their support being parasitized by thinly-veiled con men who anoint themselves as a bunch of Einsteins. A validated climate model is one that has accurately predicted 100 year average precipitation and temperature anomalies, to within 5%, over the entire planet 25 years in advance, in 4 out of 5 iterations. We have no validated models. Even if one that’s up and running is valid, we won’t know that for 125 years. For the present, it would help if those who wish to pontificate about future climate preface their remarks with the sobering truth: Man does not yet understand how climate works.
The 10 high-profile volunteers currently having their genomes sequenced as part of the Personal Genome Project.
When people learn that I have been sequenced as part of George Church’s Personal Genome Project (PGP) they often say, “Wow- I’d like to be sequenced too!” My first response to them is, “Why – are you sick?” If the last decade has taught us anything, it’s that sequencing healthy people returns mainly raised eyebrows, but little more. Sequencing cancer patients and their tumors, on the other hand, can be life saving. Dr. Lukas Wartman probably saved himself from an early cancer death by being sequenced.
Genomic sequencing of children with unexplained illnesses also leads to heartwarming breakthroughs. The Beery brother and sister pair, Noah and Alexis, had severe dystonia from birth and could barely breathe or walk. Misdiagnosed and mistreated as having cerebral palsy, the medical and emotional cost of this failed diagnosis on the Beery family was huge. Genomic sequencing revealed that they were complex heterozygotes for null mutations in the gene sepiapterin reductase, causing a known dopamine-linked dystonia that can be rescued by dietary supplementation. Properly treated, they now lead normal, healthy lives. Other similar pediatric miracles, such as solving a case of inflammatory bowel disease, come to mind.
Sequencing normal healthy people, in my experience, just tends to undermine the confidence one has in peer reviewed medical literature. I was on hand in Boston in 2008 when the first 10 completed sequences of the Personal Genome Project were rolled out. I had a special vested interest, in that mine was genome number 5. When the sequences were reported, we were all taken individually and counseled about a few of our “calls.” Remember – almost any genome will have something like 3 million SNP variants that differ with respect to the reference genome. So to say this was cherry picking, or barely skimming the surface, would both be understatements. Then they brought us back together to discuss the impact this had on us. John Halamka (PGP-2) was standing there looking sheepish because he was supposed to have an autosomal dominant neuropathy…but he didn’t. When I looked at my own data, I found mostly very vague GWAS associations. What does it really mean if you have a single nucleotide variant that is within an intron in a gene of unknown function, and that a GWAS study found it is associated with a 2.8% increase in the chance of rheumatoid arthritis, which I don’t have? Four of the first PGP-10 volunteers had mutations in the gene ELAC2 on chromosome 17, supposedly linked to prostate cancer. I was one of those – but I have a low PSA value and no history of any relative having prostate cancer for 4 generations. Fully 70% of the PGP-10 had mutations in the SP110 gene supposedly making us more susceptible to tuberculosis. Hmm. Lots of raised eyebrows and shrugged shoulders.
Looking deeper, I came across my KCNQ3 gene. The KCNQ genes are a family of voltage gated potassium channels, now numbering 1-5, working as heteromers with each other to generate the neuronal M-type current. I happen to have a single nucleotide mutation in one copy of KCNQ3, converting Arginine 777 to Glutamine. Scanning the literature, I found six other known human KCNQ3 mutants – Trp309Arg, Pro574Ser, Ala381Val, R330Cys, Gly311Val and Gly263Val – but not mine. All these other mutations lead to epileptic seizures, mostly BFNC or Benign Familial Neonatal Convulsions. They act as autosomal dominants, so only one bad copy of KCNQ3 is needed in order to have the seizure disorder. The only problem for me is…I’ve never had a seizure. What I’ve become is a “Patient in Waiting.” Otherwise called a hypochondriac made-to-order by too much genomic sequencing, or a person who is now startled by their smallest involuntary twitch.
The number of patients in waiting grows daily, as more humans are sequenced and more mutations are called…in healthy people who don’t have what the mutation is supposed to predict. I’ve included in this post the story of another such patient, a little girl named Laura Inestroza. Her story, and the fact that despite her genome, she does not have cystic fibrosis, were recently reported in The Wall Street Journal. So Laura, here’s to you, and to me, and to a long and healthy life for all of us who are proving that genes, for all that we know about them, are still keeping a lot of secrets.
Laura Inestroza, 4, was found at birth to have the genetic changes associated with cystic fibrosis, but she still has no symptoms. Michal Czerwonka for The Wall Street Journal By Amy Dockser Marcus
To read the full WSJ article, Genetic Testing Leaves More Patients Living in Limbo, click here.