A Scientific Guardian Angel Appears

There have been a series of strange coincidences & twists of fate during my cancer journey but one that happened last week ranks up there with one of the most amazing… In the past week a scientific dream I’ve had in regard to my cancer became a reality – by the most unexpected route possible. For a scientist experiencing an extreme low last week with being excluded from many clinical trials, this was exactly the kind of scientific Guardian Angel life vest I needed to be thrown, exactly when I needed it most.

But first let’s start with some background, heck why not from the very beginning 🙂

Scientist noun sci·en·tist \ˈsī-ən-tist\ : a person who is trained in a science and whose job involves doing scientific research or solving scientific problems

Science noun sci·ence \ˈsī-ən(t)s\ : the state of knowing

At my heart & soul I am a scientist, in other words my mindset revolves around “doing scientific research” to increase “the state of knowing”.   It is just who I am, on an everyday basis, in my core. Cancer hasn’t changed that.

When I was first diagnosed with cancer, one of the very first things I was driven to find out was “Why? What caused this?”  I work in oncology research so in addition to potential therapeutic help, I simply had a quest for the basic knowledge – what gene(s) just royally messed with my & my family’s lives?  Is it inheritable by my children?

On one hand, no one in my family history had ever had CRC prior to their 60’s… I was 40.  Me having metastatic CRC at age 40? Made. No. Sense. On the other hand, looking at both sides of my family history – it is filled with cancer including multiple family members (on both sides) having been diagnosed with more than one type of cancer during their lifetime. So… an inheritable genetic basis for my disease seemed like a plausible possibility.

In 2012, I had my CRC tumor profiled in the Foundation Medicine Genetic Panel.  This is a very useful panel for therapeutic use because instead of looking at the entire genetic code – it looks only at a subset of genes which are clinically well validated to be involved in causing cancer, ideally with a matched therapeutic to combat the mutation.  From a therapeutic viewpoint, this is the primary data you want to know since it can dramatically influence your treatment options and possibility of treatment success.

My main results: Two common mutations for CRC (APC & p53 for the scientists in the crowd), neither of which has any matched therapeutic.

But my thirst for knowledge did not end there.  This panel did not answer 1.) Do I have cancer-causing genetic mutations in my normal cells that can be inherited by my daughters, putting them at risk? 2.) Are there any glaring genetic differences between my tumor cells and my normal cells that give additional indication what had caused the cancer – even if (in 2012) there was not a matched therapeutic or extensive clinical validation to put that particular mutation on the limited Foundation Panel List?

As a scientist, I had a thirst for that knowledge.  For the sake of knowledge; to see if there is potentially anything my daughters have to have monitored during their lifetime; to have a dataset on hand as “new clinically validated targets” are continuously being found through research. I thirsted for full data.

Enter the Ultimate Irony

Through the help of many generous people throughout my company and the MIT & Harvard Broad Institute, in 2012-2013 I extensively looked into getting the much more extensive whole exome sequencing genetic analysis done of my normal cells vs CRC cells.  I had a lot of good leads and many people trying to help – but the barriers (financial, regulatory, legal, logistical) were simply insurmountable.  In theory I could spend $20k to have a for-fee service run the test – but I had a number of qualms about using such a service, including the high cost, amount of data release & ability to work with them on the experiment vs simply getting a pre-printed form with results in the mail (thanks for the check, please come again!) with no scientific follow-up.

It was with extreme irony that my company has “Genomics” in its name & it has all the necessary equipment, expertise & willpower to run these experiments but for a mixture of legal & regulatory reasons, it was unable to help me out.  An ultimate irony.

So with regret, I turned my focus to other cancer-related projects – I figured “it just wasn’t meant to be”, time to move on…

Wait how many cancers did you say you have again?

With the melanoma diagnosis, my case suddenly became much more “weird”.  It just does not follow standard genetic paths to have both CRC and melanoma at the same time when you are young.  It could be a coincidence but it is, to use a highly technical term, just plain weird

With this new diagnosis, I re-looked into genetic analysis. An additional small gene panel looked like a possibility but once again, fuller sequencing did not look likely.  Nothing had significantly changed since 2012.

Until…

Enter the Scientific Guardian Angel

This is where the long prologue starts to turn into an interesting story.

As many of you know, I was privileged to attend an advance screening of the fantastic new Ken Burns PBS documentary on the history & incredible recent progress against Cancer based upon the wonderful book “The Emperor of All Maladies”.  Something amazing happened at (& because of) my unexpected invitation to go to the screening – seting off an incredible series of events which blew my mind. For the sake of protecting their privacy, I will not be writing the names of the people involved in the incredible sequence of events that followed.

I was sitting in the audience listening to a panel discussion after the film.  On stage were included a cancer patient advocate as well as a very famous cancer geneticist – we’re talking an ex-President of the AACR (the world’s largest association of cancer scientists) level famous.  They were discussing a story where the patient had a cancer which appeared to have a hereditary genetic basis but nothing was lighting up on the “standard genetic panels”.  The two of them had a random chance meeting, began to talk and the end result was he was successfully able to find a way to get full genetic sequencing of her, analyzed by a top genetics lab to “look for things out of the ordinary”.  My heart leaped into my throat since she had been in the exact same “no normal path forward” trap I was in and she had found a way out!

I started scribbling down notes from their story to try to figure out if a path forward for my genetic analysis could also be found.  I considered talking to the geneticist afterwards but it was a busy event and he was swamped with people – so I just went home to ponder what , if anything, I should do.

As I drove home, I became more & more excited.  This was exactly the success story I had been hoping to hear for almost 3 years!  And it occurred in a setting where I least expected to hear it and to which I had been invited to at the last second.  Such an odd twist of fate… Talk about chance occurrence of unexpectedly being at the right place at the right time! As I got more excited during the drive home, I had the unshakable feeling growing within me.  Even though I didn’t know him & he is famous, I felt the overpowering NEED to contact this geneticist. By the time I got home, my mind had transitioned to “I NEED to contact this geneticist TONIGHT”. 

So even though it was late, I decided I would try to find his email address (thank you Mr. Google!) and I would write him a letter late that night explaining my situation and asking if he had any ideas.  Cold-emailing someone famous is not in my character but I hit send on that email around midnight.  I was so excited I could barely sleep.  The next morning I checked my email.  No reply.  Not unexpected – I had just cold-emailed someone famous.  He didn’t know me.  Of course, he would probably just ignore my message.  Time to move on.  I drove to work disappointed but still a little proud that at least I had had the courage to try.

I got to work & turned on my computer.  Email #1 in the list was from him!  This world famous scientist had taken the time to write out the nicest long email response you could imagine.  He had dropped everything that morning to respond to little old me, a cancer patient he had never met or heard of before.  He offered any help he could think of – between his incredibly nice response and a potential path forward on my genetics – I actually teared up reading his notes.  We ended up exchanging emails throughout the day & we decided to meet for lunch and figure things out from there.

We met for lunch and he was the nicest gentlemen imaginable – once again I was thunderstruck that this world famous scientist dropped everything to have lunch with me and talk over genetic ideas, my medical history etc.  I left the lunch walking on air.

That same night something amazing happened.

I received the email from him close to midnight. I had to run downstairs and show it to Veronica I was so speechless.  In the email, he told me that he had just “had dinner that evening” with two very famous & powerful figures in science.  He had told them my story and both had promised their full resources, whatever was needed, to help me out.

One of the scientists… so famous that not only did his picture make the cover of Time magazine a few years ago but his cover was chosen as one of the “TIME Turns 90: All You Need to Know About Modern History in 90 Cover Stories“… is connected to an organization with very powerful genetics capabilities.  He didn’t just offer exome sequencing.  Instead, he offered that his company would obatin FULL whole genome sequencing of (every single letter of my DNA!) & do full detailed comparison analysis of my normal cells vs. my CRC vs. my melanoma.  Top geneticists (e.g. the ex-President of the AACR & others) would be directly involved in order to produce & interpret world-class data.

I literally started crying when I read that.  It felt like the scientific Calvary had arrived! The incredible generosity shown by these multiple very busy & powerful people to drop everything to help me out amazed me.  As a scientist, having the data collected & analyzed by world leaders in the field was a breathtaking mental picture.

This sequence of amazing events transpired over just a few days – without any warning – after a chance encounter at a film I had never planned to be at – after an out of character uncontrollable urge to cold email someone famous for advice.  It truly felt like I had met a scientific guardian angel.

Leaders of the organization called me the very next day and with breathtaking efficiency, I expect to receive back my whole genomic sequencing (normal vs. CRC vs. melanoma) in a little over a month.

All of this was especially meaningful because it transpired the exact same week I found out that I had been excluded from the clinical trial(s), which to be honest was a hard blow to take, especially for an oncology scientist who makes drugs for those same type oncology clinical trials.

What useful data I’ll get from the genetic profiling I don’t know yet but… that is the nature of Science.  I am a Scientist and my world simply revolves around doing things to increase the “state of knowing”.  Where that science leads is unknown until you have the data in hand.  All I know is that I now unexpectedly have a world-class team of geneticists trying to help figure things out for me.  The generosity of others and the bizarre timing that things can happen in life never cease to amaze me…

For a scientist experiencing an extreme low last week with being excluded from many clinical trials, this was exactly the kind of Guardian Angel life vest I needed to be thrown, exactly when I needed it most.  In the end it was a very good week 🙂

post-Post (is that a word?) update:

After talking to the genetics team today, it looks like in addition to the above tests, they will also (!!) attempt a liquid biopsy of my blood sample.  This is using very powerful and very new technology to detect tumor DNA in the blood to diagnose cancer without having to do a surgical biopsy!  The goal will be to try to detect my current CRC mets’ DNA (they can not be surgically biopsied) and compare that DNA with my CRC tumor DNA from 2012 to look for new mutations that might have appeared in the past 3 years.  This would be great data to get since we are basing treatment decisions on 3-year old data and cancer is very prone to continuous mutation… We are starting to enter Star Trek Medical Tricorder land… absolutely fascinating cutting edge science – I feel like I’m surfing on top of the coming genetics revolution wave! If I must have cancer, it is a great place to be.

19 Comments on “A Scientific Guardian Angel Appears

  1. Tom,
    It is really exciting and well expressed piece. I keep praying to God while waiting the next post to tell us the results of your gene mapping. It is just weired that no one in your company is trying to step in and help out this incredible efforts.

    Like

    • Hi Moustafa – MANY MANY people in my company have tried very had to help with this – it is complicated but essentially it came down to legal & regulatory issues precluded them from running the experiments. My company & coworkers have been wonderful to me – but at the end of the day, they have to follow laws and regulations like everyone else, not matter how hard they wish to help…

      Like

  2. As you might guess, I LOVE THIS!!!! There are definitely forces at work in our lives, and I love it when it feels so good. Oh YAY! How cool that you went to that screening, and that you listening to the persistent nudging of that angel who prompted you to reach out, and huge kudos to all those who are helping you in such a human (and superhuman) way. Thanks for sharing this story, making it so interesting (I was riveted) and making it easy to read with the various fonts, questions, thoughts, etc. Loved all of it!

    Liked by 1 person

  3. Tom, what an incredible piece – it’s written so well that could actually understand much of what you are saying. I am so fired up for you! I can feel your passion and thirst for information in all that you write. I will be cheering from the beach as you surf this wave of hope and information!

    Liked by 1 person

  4. As scientists we often feel disconnected from the patient aspect of our work- we see the data but don’t understand the personal impact it has on people. Thanks so much for sharing in your blog- it’s great to see these things come together!

    Liked by 1 person

  5. This is truly an incredible post, yet it doesn’t suprise me because anyone who knows you knows that you have some of the BEST energy and you are beyond positive so it’s almost as though these marevelous events that unfolded— make total sense. Love you, P!!!!!

    Liked by 1 person

  6. Wow Tom – I am excited about the development with the exome sequencing. New level of respect for this person – I believe I know whom you refer too. Anything I can do to help – you let me know and I am on it! Shikin Haramitsu Daikomyo!

    Liked by 1 person

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