Brain researcher won’t let ALS stop him

Racing against time, he keeps on data mining

I cannot speak, walk or use my hands anymore. I am unable to move my limbs or vocalize a grunt. I communicate with my eyes, using my gaze on a specialized computer screen to write a letter at a time. I am unable to extend my neck or swallow. I drool incessantly, choking on my secretions several times a day. Deep breathing is a thing of the past. Even simple breathing is done with the help of a machine. I am a physician and a scientist and built a career studying brain diseases, and now I am living with one of the diseases that I study. I am just 40 with an amazing wife and two beautiful children.

And as miraculous as my life is – in so many ways – I welcome death.

On Feb. 17, 2017, I received a diagnosis of amyotrophic lateral sclerosis, known as ALS or Lou Gehrig’s disease. Six months later, I was confined in a wheelchair. One year later, I was locked in. One-and-a-half years after my diagnosis, I was started on a noninvasive ventilator.

For now, from my new perch, I am certain that dying is easier than this living.

The irony is that I had just started working on ALS when my symptoms started, and the findings that are still percolating in my lab at the University of California at San Francisco could change what we know about this insidi- ous and still fatal disease.

So I don’t stop. I can’t stop. I spend my days conducting research on, thinking about, living and breathing all things ALS. No longer able to perform experiments or collect any data, I mine big, publicly available data sets searching for answers.

Thanks to the generosity of my colleagues and the research community, my lab has constructed a database that houses anonymized genetic, imaging, clinical, epidemiology and biomedical research data from more than 4 million people worldwide, across 70 different diseases, including ALS.

By leveraging this data and statistical tools, we have developed, we are making inroads into ALS. We have found, for instance, that the genetic basis of ALS may be polygenic, meaning that several genes work together to increase disease risk. This polygenic architecture can be further partitioned into different genetic clusters, each of which is associated with a unique molecular function. This means that every person with ALS has a unique genetic fingerprint that may provide insights into treatments that may be most effective.

I have used the new tools in my laboratory to analyze my own genetic data. I have found that I carry genes that make me susceptible to ALS and harm the normal functioning of T cells of the immune systems.

I am hoping that my genetic variations point the way to slow this disease. Immunotherapy drugs like those used against some cancers might also be effective one day against my ALS.

We have similarly performed free genetic analysis for a handful of individuals with ALS with the hope that this information can help inform their treatment options. By the end of this year, we hope to have a free online genetic platform – upload your 23andMe or Ancestry.com data and the website will calculate your genetic risk for ALS or help you figure out whether any of the ALS treatments currently being tested might be effective – for a given individual. This is personalized medicine for ALS.

A colleague recently asked why I still spend my time doing ALS research. Why not watch movies and take it easy with the time I have left? This is what I said: I would stop doing research if my colleagues in the field could find treatments that slowed down my progression instead of just offering ways to keep my body alive. I would turn my attention to other nonscience pleasures if ALS researchers and clinicians would stop using a “one size fits all” treatment framework and embrace a personalized approach because no two ALS patients are alike.

What I have learned from my decades of research – and now from my body – is no two ALS patients are alike. I’m not baseball great Lou Gehrig, theoretical physicist Stephen Hawking, a star NFL player or any other victim of ALS. I’m neither brilliant nor am I a hero. I am a guy who loves science (and a lot of other things) and fights for funding to work on some pretty interesting research.

And now, I am a sick physician-scientist on the brink of death who can’t slow down. If anyone would fight for me, I would stop doing ALS research today.

Nick Otto/The Washington Post Scientist Rahul Desikan and his wife, Maya, at home in San Francisco. Desikan developed amyotrophic lateral sclerosis, known as Lou Gehrig’s disease, and is now severely disabled.