My reply

First, your question is trivial to answer: to minimize the risk – to zero – that you’ll have a disabled child, don’t have a child.

Any attempt to have a child will incur risk, although you can take measures described in other answers to lower it.

But, let me tell you a story – my story.

I am the father of a “disabled child,” yet I’m a professor in computer science at the University of Utah, and also currently a professor at the Harvard Medical School.

Hopefully I’ve just dispelled your fear that having a disabled child is not compatible with “a strong career in computer science or medicine.”

In fact, what if I told you that much of what I’ve done was the result of my having a disabled child? Because I too (naively) believed in love, and loved my wife and son dearly?

Let me be clear – I’d trade away all my accomplishments, titles and degrees in a heartbeat and with no regret if it would cure my son:

I am not advocating that you run off to stick your testicles in a microwave in a desperate bid to repeat my feats in life.

Eight years ago, my wife and I did the standard prenatal screens.

They came back normal, and the pregnancy was largely uneventful.

Shortly after I finished my Ph.D. in computer science and my wife got her M.B.A., our son Bertrand was born. A few months later, I started a tenure-track professorship in computer science at Utah.

At six months old, we realized something wasn’t quite right. An odyssey began.

Three years ago, I wrote a long blog post describing that odyssey, and its improbable conclusion. Here’s the CliffNotes version:

Our son became a pioneer in cutting-edge medical research. We (in the service of a talented team of scientists at Duke University) ended up discovering a new genetic disease – NGLY1 deficiency. My son was the very first patient of an ultra-rare disorder with an estimated 500 living patients worldwide. Oh shit. Using some basic insights as a computer scientist, I came up with a novel way to find other patients with the same ultra-rare disorder over the internet. It worked, and a patient community formed for this brand new disease. Working with scientists, that community has engaged in basic biological research, and I started shifting my intellectual energy from computer science to biology and medicine (and especially the intersection of all three). Applying the cold logic so common in computer science to the cell biology of the disorder, we’ve started predicting therapies, some of which have since come to bear fruit and improved my son’s quality of life beyond measure. (Not a cure yet, by any means, but tangible improvements to a horrific disorder to be sure.)

More (improbable) things happened:

Our story appeared in The New Yorker. I got a phone call from Harvard asking to me help out with a newly launched NIH project – the Undiagnosed Diseases Network – aimed at diagnosis of the most challenging undiagnosed patients. I jumped in. I’ve been called to the White House five times. I met with the President, and he asked if I would help. I said yes. I’ve engaged in the organizing process of the President’s Precision Medicine Initiative, which broadly aims to bring the kind of cutting edge genomic science and medicine that we have used for my son to the rest of the country. Harvard offered me a visiting professorship in the medical school for my sabbatical, and Utah offered me funding to start work in medicinal chemistry (drug development) for NGLY1 deficiency. Here at Harvard, I’ve been distilling the application of hard logic to genomic medicine into an “algorithm” for predicting treatments for patients based on genetic data. Back at Utah, we’re building a planarian worm model of the disorder as a platform for testing predicted therapeutics. I’ve just started identifying other patients with ultra-rare genetic disorders that I think could benefit from computationally predicted therapies, and I’ve reached out to their scientific teams to begin validating these predictions before moving to patients.

Meanwhile, as a computer scientist during all of that, I made discoveries like parsing with derivatives and abstracting abstract machines, and even how to do deletion in fundamental data structures like persistent red-black trees.

I’ve published 45 papers. I picked up three DARPA projects, four NSF projects and two DoE projects aimed at everything from next-generation cybersecurity to cancer-fighting medical robotics to exascale scientific computing.

I got tenure.

Yes – all while having a disabled son (and clearly an amazing wife to make all of that possible).

Moreover, I attribute my success in computer science to my son too.

My son forced me to systematically examine what matters in life – what really matters – and in the end, I came to appreciate a quote from his namesake, Bertrand Russell, more than I could have ever imagined:

“The good life is one inspired by love and guided by knowledge.”

My first year as a tenure-track professor cannot be described as anything other than an abject failure. I was so desperate to publish and raise funds that I began thin-slicing my research and submitting lots of poor quality papers and grant proposals.

I must have had a dozen rejections in a row that year. It sucked.

I remember huddling on the porch at the end of that year with my wife, telling her, “Well, I’ll at least have a job for six more years.”

I looked at my young son, cuddled in her arms. I saw his very existence hung in the balance between knowledge and ignorance.

Then it hit me: Life is too precious and too fleeting to waste my time on bullshit like tenure. I didn’t become a professor to get tenure. I became a professor to make the world better through science. From this day forward, I will spend my time on problems and solutions that will matter. I will make a difference.

I stopped working on problems for the sole purpose of notching up a publication. I shifted gears to cybersecurity. I found a project on cancer in the med school. I joined a project in chemical engineering using super-computing to fight global warming.

Suddenly, my papers started getting accepted.

My grant proposals started getting funded.

I also started blogging a lot. Blogging, much like answering questions on Quora, doesn’t count for tenure at all, and in fact I was cautioned against doing it, since it was “a waste of time.”

But, blogging became a way to reach out to the world and to transmit technical knowledge, which is what academic publications are supposed to do – but don’t.

Before I knew it, my blog began attracting top-notch students to my lab.

Today, my lab is a team of talented grads, undergrads, postdocs and research scientists. I’m proud of each of them. I can’t imagine it would be that way without my “waste of time” blog.

(I also can’t imagine having published 45 papers without them!)

In the end, I achieved a self-reinforcing sense of fulfillment in my work: because I was proud of what I was doing, I wanted to do more of it.

I am grateful to my “disabled child” for teaching me one of life’s most valuable lessons: the importance of using our hauntingly brief time on this planet to do the things that matter, the things that will make a difference – the things that are inspired by love and guided by knowledge.

So, if you love your spouse and you want to have kids, then have kids.

Accept the inherent risks, and if the improbable should happen, don’t use it as an excuse to not have a strong career in computer science or medicine.

Or both.

An online lecture

My keynote from Harvard’s recent precision medicine conference, describing some of this in more detail, is online:

And, if you’d like to personally engage in NGLY1 deficiency research, you can, even if you’re not an expert in biology:

Try five minutes a day on Mark2Cure.

A requested addendum

S. Alspaugh asked about what my wife has been up to.

There’s a reason I’m only half-joking when I call her the “Mother of Dragons”:

At first, she gave up a promising career in start-ups to care full-time for Bertrand. Then, she started a blog about Bertrand that coalesced a community within the rare and undiagnosed world, a blog that would also someday end up finding and diagnosing NGLY1 patients as far away as India. She fought tirelessly to get a diagnosis for Bertrand as a full-time occupation and at the same time served as a friend to many in a similar situation. When it became clear we needed genomic sequencing, she started a fund-raising campaign to buy the sequencing cores at the University of Utah. When we reached a diagnosis, she created NGLY1.org, a non-profit foundation dedicated to reaching understanding, treatment and cure. She’s been breaking her back raising funds for NGLY1.org and organizing research efforts. She got Bertrand the first hemp extract license ever issued in the state of Utah, making him the first patient ever able to legally use medicinal-grade cannabis in the state of Utah (and also the most popular first-grader in his class). She initiated a collaboration with Mark2Cure, a crowd-sourcing research initiative in the Su Lab at Scripps to let non-scientist volunteers on the internet (like you!) biocurate snippets of text from pubmed that are helping to understand and treat NGLY1. When she found out the Right to Try bill – giving terminally ill children like our son the ability to try experimental drugs – failed to pass in Utah last year, she took Bertrand to the capitol. She testified before the state house and the state senate. Right to Try passed both houses unanimously this year. The governor invited her and Bertrand for the bill-signing, congratulated the two of them on passing the bill, and gave Bertrand a signed copy of the legislation and the pen. This year, she co-founded the Utah Rare coalition, an umbrella organization to coordinate rare disease activities in the state of Utah. She co-organized a Rare Disease Day rally at the state capitol, which became the largest state capitol RDD event in the country. She co-organized a Rare Disease Day conference at the University of Utah, also one of the best attended and well-organized in the country. She created an NGLY1 booth at ACMG and SIMD, where by talking to clinicians, she found 5 new NGLY1 patients in just one day. She’s currently planning the next NGLY1 patient/researcher conference (having planned the 2014 one as well), and attempting to unite the broader congenital disorders of glycosylation (CDG) community. She generally shies from the spotlight and will probably be embarrassed that I wrote this addendum, but she’s been on TV and in papers several times to promote NGLY1 and the cause of rare disease in general. Somewhere in there, she found time to give birth to two amazing younger siblings to Bertrand: Victoria and Winston.

In fact, she’s up to a lot more, but I’m already exhausted thinking about it.

I don’t know how she’s able to do it all and be such an amazing mother to our three kids at the same time.

Summary: Distilled thoughts on tenure

So, that was my answer.

And, that’s why I wouldn’t advise repeating my route to tenure, per my advice on microwaves above.

Though, perhaps there are some principles to extract.

Rejecting tenure before it could reject me was liberating.

And, perhaps my experience is a counter-example to the cynical yet sincere advice frequently given on how to get tenure to new assistant professors.

The central theme in this “advice” is that anything that detracts from research – teaching, service, kids, health, etc. – is bad.

To be fair, only a minority is offering this cynicism, but it’s prevalent enough to make a fresh assistant professor wonder how seriously to take it.

Simpler advice would be: “Find a problem where your passions intersect society’s needs.” The rest will follow.

On teaching

Not mentioned in the post above is that I stepped up my game considerably on teaching, with my teaching evaluations rising to the top tier of my department.

I even won what some academics jokingly call the “kiss of death” for tenure – the annual oustanding instructor award – the year before I went up for tenure.

(My Ph.D. advisor, perhaps the greatest and most passionate educator I have ever known, received the excellence in teaching award and was then promptly denied tenure.)

Doing a good job with teaching is perversely seen as a cardinal sin in some departments.

Focusing on teaching gets interpreted as a lack of dedication to research.

Let’s be clear: refusing to improve one’s teaching is morally unacceptable.

Torturing a captive audience every semester with soul-sapping lectures is criminal theft of tuition.

For me, investing in teaching paid off in unanticipated ways: teaching became a way to constantly practice and sharpen my presentation skills.

It allowed me to distill a set of principles for public technical communication.

And, it attracts bright students to my lab.

It’s time for all departments to start placing equal weight on teaching and research in tenure evaluations.

It’s not even just the right thing to do: using teaching as the forcing function to turn pre-tenure professors into first-class technical communicators is in the self-interest of the department!

If we in the academy refuse to reward good teaching, then we deserve to be devoured whole by the MOOCs storming our gates.

On service

Because service is a thing that matters and makes a difference, I also did the highest quality service that I could, even though it “detracts from research hours.”

I was even told (only half-jokingly) by some senior academics that the best thing to do for service was a terrible job with my first assignment, so as to avoid ever being given another one.

It’s my firm belief that what separates the quality of departments is defined largely by whether or not a culture of respect for service – internal and external – exists.

How can good departments become great departments without everyone going all-in on service?

Departments that don’t reward service with weight commensurate to research and teaching are shooting themselves in the foot.

My own Dean provided excellent advice on why doing good service is important: service gives you a chance to work with faculty outside your research area, and it gives you an opportunity to show your colleagues why they wouldn’t want to lose you.

Service puts the collegiality in a college.

The only caution I have on service is that you should be wary of doing too many distinct activities: I briefly spread myself too thin on service, and had to re-focus to save quality.

On collaborators and students

Good collaborators and students obviously make research (and tenure) much easier.

It would be dishonest to talk about getting tenure without mentioning my top pre-tenure collaborators – my colleague David Van Horn at UMD and my (now-graduated) Ph.D. student Shuying Liang.

On several occasions, David and Shuying each single-handedly saved my career with their sharp technical insights.

When you have a chemistry with a collaborator, the value of that collaboration exceeds the sum of its parts – in some cases vastly so.

I was and remain fortunate to have many strong collaborators inside my department and also across campus in the medical school, in medicinal chemistry, in math, in chemical engineering and in mechanical engineering.

Good interdisciplinary collaborators should not be hard to find: take any field and intersect it with your own; a failure to find something in the overlap is only a failure of imagination.

The best advice I can offer on finding good students is to turn to social media with a blog like this, to answer questions on Quora and to tweet regularly.

On metrics

Pre-tenure professors are often bombarded with metrics, targets and benchmarks to hit for tenure.

Everyone has heard horror stories of departments obsessing over specific metrics for tenure, and of the golden yet square pegs that failed to fit into round holes.

Goodhart’s law applies:

“When a measure becomes a target, it ceases to be a good measure.”

And, a quote I once heard on NPR:

“We can’t measure what counts, so we count what we can measure.”

Good departments will find a way of side-stepping metrics to judge what counts.

On health

It’s not uncommon to see pre-tenure professors steadily decline in terms of health.

I was earnestly advised by a senior academic: “You just have to learn to get by without sleep.”

The University of Utah requires employees to take annual health assessments in order to receive a reduced rate on insurance.

After three years of these, I realized that my indicators were trending in negative directions, and rapidly.

My plan to “get healthy after tenure” was flawed: I had become clinically obese, and at the rate I was going, I would have had both diabetes and hypertension in a few years.

So, I decided to reshape my environment to make exercise a fixture of my daily routine – even at the risk of “detracting time from research.”

First, I lost 60 pounds in 9 months using an approach I call least resistance weight loss.

I’ve since put on about 40 pounds of muscle using the least resistance philosophy adapted to weight-lifting.

I created the least resistance approach to exercise as a way of eliminating the conflict between work and exercise, by integrating them into the same activity and molding the environment to make it easy.

I strongly encourage pre-tenure professors not to fall into the fallacy that health and tenure are mutually exclusive.

Not only are they not in contradiction, but a healthy body (by definition) includes a healthy brain, and healthy brains are creative and productive.

A regret: Not pushing for open-access

I do have one lingering regret from my pre-tenure days: not taking a principled stand on open access, even though it would have been the right thing to do.

I believe strongly in open access, yet I repeatedly publish in closed venues in my field such as POPL, PLDI, ICFP and OOPSLA.

I made an effort to put everything on arXiv at time of submission and to post research to my blog, but virtually all of my research ultimately ended up in closed venues.

My hope is that tenure will provide me opportunities to steadily shift computer science and medicine toward high-quality, high-impact open access venues.

The reason I feel especially ashamed over my behavior is that in the course of my research for my son, I have used my privilege as an academic to punch through paywalls with impunity to reach medical papers.

In a damning irony, even this paper is behind a paywall.

I realize that few patients or parents have the ability to do what I did, and they never will, until all of academic medicine goes open access.

In computer science, academic paywalls stifle.

In medicine, academic paywalls kill.

Epilogue

In short, my son inspired me to do the opposite of the “conventional wisdom” floating around in academia on how to get tenure.

And, Utah gave me tenure!

So, maybe it’s time to put to rest the myths that we need to skimp on teaching and service, or thin-slice to endlessly drive up pub-counts.

Of course, I am also grateful to my Dean, my department chairs and my colleagues for never hesitating to lend a hand when it came to a challenging family medical situation.

Once again, the closest thing I can give to general advice for tenure is to do the things that matter, the things that will make a difference.

And come to the University of Utah!

Life is good here.

The questioner replied to me on Quora, first publicly:

Thank you for answering the question in a non-sanctimonious tone and for not implying that I'm somehow in the wrong for wanting a healthy child. Your success is amazing and seemingly well-deserved, and your answer has given me a new and valuable perspective. I am grateful to you for that. Best wishes.

(The other replies were often harsh on this poor kid.)

Eventually, he wrote to me directly: