A post shared by NGLY1 Activist and parent, Matt, is listed below.
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) believe in love, and love 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 adescribing 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 — . 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 things happened:
- Our story appeared in .
- I got a phone call from Harvard asking to me help out with a newly launched NIH project — the — 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 , 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 likeand , and even how to do .
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
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, 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.
My keynote from Harvard’s recent precision medicine conference, describing some of this in more detail, is online:
Addendum: asked about . 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 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 in 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 , a non-profit foundation dedicated to reaching understanding, treatment and cure.
- She’s been breaking her back raising funds for 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 , 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 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 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 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.