Knowing: The burdens and the blessings

Knowledge is power.  Knowledge is responsibility.  Knowledge is a call to action, to vigilance.  No wonder they say ignorance is bliss.  (Ha!)

On my LFS support page this morning, someone wrote about how they can now test embryos and using IVF, select for implantation only those that are mutation free at p53.  There are those who have successfully carried a mutation-free child.

I knew that this could be done because my geneticist told me about it when we learned that Brent had Li-Fraumeni Syndrome.  They also shared the new Toronto Protocol with us, which is a screening protocol to find cancer early.  The folks at University Hospitals, I think, were piling on the latest options and improvements to mitigate an otherwise devastating condition.  The lion’s share of research up until this point has focused on “How do you feel, now that you know?” and the psychological ramifications of living with this knowledge of a faulty tumor suppressor gene.  The failure of this gene often results in multiple episodes of cancer, sometimes simultaneously.   

I will not pretend that this is easy, either the knowledge or the attendant worry that comes with it.  As I have shared, a series of headaches in my 11year old begins with ‘rule out brain tumor.’  That is a tough way to live, but far better than sitting back and waiting.  Because after 3 episodes of pediatric cancer, we were going to worry anyway.  At least with the knowledge, we can take action and find things early.

Similarly, there is power in taking action, of being able to choose only healthy embryos, in being able to eradicate this mutation in the future.  Who wouldn’t want a healthy child?  This is a no brainer.  But as I considered this some time ago, about how I would explain this option to my children when the time is appropriate, I realized the ethical and existential morass that this would be.  Because this decision, in a way, denies the validity of my children’s lives.  If I present this option, it is implied that I would not (or might not) have chosen to have them if I had known.

It is kind of loaded.  Because we didn’t know. 

This would be prime time for calling in some of those psychological researchers and positing the question.  “Well, how do you feel, now that you know?”  What I do know is that there are many ways to form a family.  I will consider it an enormous blessing for my kids to have the opportunity as adults, to wrestle with exactly how they would like to accomplish this.  I will be very grateful for this particular problem.

 

Yesterday, there was a news release out of Memorial Sloan-Kettering, a hospital that we know well.  They were reporting advances in targeted cancer therapies, ones that use our own harvested T cells, which are infected with a virus and programmed to attack a particular tumor cell.  This is accomplished by looking at the genetic profile of the tumor.  And sometimes, by doing this, they stumble upon information that they weren’t looking for, like a BRCA mutation or LFS in the patient.  There are ethical conundrums that come with this data. Are researchers ethically obligated to share this information with the patient, which can have clinical implications?  Does the patient want to know?  Should they know?  Should you even pose the question to the patient, which all by itself opens a Pandora’s Box of worries? 

There are families with LFS that are torn apart, not just by cancer, which is difficult enough, but by the decision to seek genetic answers.  Because this is a family syndrome, even establishing the diagnosis for yourself has implications for everyone else who shares your bloodline.  So, in some families, having a p53 mutation established poses the question for other family members and by extension, their children.  For those who do not want to know, it can become an issue.  And they no longer bring the green bean casserole to Thanksgiving, let’s just say.

I am an avid proponent of research.  I celebrate advances in all areas of cancer, which you might contend is hugely self interested, given the likelihood of us dealing with more cancer.  I am no position to deny the charge.  But even with a dog in the fight, I recognize that scientific advances sometimes come faster than we can wrap our head around them.  This is ironic, because research seems to go slowly when you participate in it…or if you are waiting for a particular advance in a timely way.

I think of my friends, those with LFS, each fighting in their own way.  Battling the worry.  Being grateful for the worry, when it turns out to not be cancer.  Battling the cancer when it comes.  Or, when it comes back.  The fight is mental as well as physical.  It is all grueling, and it never ends.  But through this devastating and demoralizing disease, because of it actually, I have come to know some amazing people.  While I would much prefer that we had met at PSO function, this is the hand that we have been dealt and these are the people that have been placed in my path, on this path.

I am going on Thursday to meet some of these wonderful people in Boston.  The researchers.  The mutants.  I want to learn what advances are coming and how they might help my children.  All of our children, because we have become one big mutant family, bloodline be damned.  The blessings cannot come without the challenges….my new extended family is the blessing.  The challenges still suck.

We are fortunate that the Ramers are not waiting for ‘a particular advance in a timely way,’ nor are our children forced to wrestle with existential quagmires. 

Not today at least.