Life with a rare syndrome
Peutz-Jeghers syndrome once defined my life and death.
June 4 is always a tough day for me.
If we know each other well enough, chances are you have heard me talk about my mom. She passed away 21 years ago today.
I bring this up because she had Peutz-Jeghers syndrome (PJS), a rare and often missed or misdiagnosed condition. Fewer that 7,000 in the United States have it.
I will not go down that rabbit hole, but I have included information beneath this post in case you, or someone you know has been struggling with unexplained GI issues. I hope nobody needs to look, because PJS sucks.
People with the syndrome have a significantly higher risk for developing multiple cancers. The risk is estimated to be as high as 93% and the average lifespan is 57 years.
My mom had Peutz-Jeghers.
She had multiple cancers.
She died at the age of 57.
I have PJS and 57 is really not that far into my future.
Crushed by mortality
For a very long time, I did not know the statistics, symptoms, or the risks. I had no idea that there was anything wrong with my body.
A few years after my mom passed, I was connected with a terrific GI specialist at the Hospital of the University of Pennsylvania. That is when I learned of the risks and statistics. My life changed that day, and certainly not for the better.
We all face our own mortality at some point. Death is inescapable. For me, it was approaching like a ticking time bomb. Turning 29 put me on the wrong half of my life. Everything snowballed at a blinding pace and fevered pitch.
There was nothing I ever feared more than cancer. My mom put on a brave face and hid her struggles until the very end, when there was nothing left of her to hide. Very few people knew how much she suffered. What I did know was that, if I was diagnosed with cancer, I would choose to end it all rather than be eaten to death from the inside.
In your teens and early twenties, you feel invincible. At this point in my life I thought I was already dying. My body was in a gestational period just waiting for the chance to betray me.
I went through the first three stages of grief, but got stuck on the fourth. I sunk into a deep depression that felt like it was never going to end. I got no enjoyment out of life and questioned why I should keep going down this road.
Add undiagnosed mental health issues to the mix, and I was miserable and miserable to be around. For years. Many years.
I began thinking about my mom’s life and how selfish I was for moving away. I was on an airplane flying home during her final moments. She held on until everyone was with her, but me. Maybe it wasn’t worth waiting for me. I left her, so she left me.
She fought cancer for the better part of a decade and won every battle to that point. I could not fathom that she would lose the last one.
Stuck in a bad memory
What haunts me is that I only remember her as she is in the above photo. She was vivacious, gracious, and welcoming. I do not remember any of it. A few years ago, my sister found some old home videos and we watched them together. I did not recognize her. She was an imposter.
I think that may be part of the reason I still struggle all these years later. Clichés tell us good memories eventually replace the sadness, but I can’t remember the good times. I’m sure they existed, but my mind wiped them away.
Why? Was there some sort of trauma? Guilt? What was it?
To this day, I still don’t know.
I am happy that my siblings and sister’s children are fine. My daughter is fine too, but my son has PJS.
How do you look your child in the eyes knowing the reason he exists might also be what kills him? He knows he has it and has had procedures already. All I could was apologize to him, tell him I love him, and cry in private.
Three generations of psychological and physical torture created by something we will never be able to see.
Different suffering
I know this is not the worst thing in the world. People suffer far worse fates. My wife says that, if you live long enough, you will get cancer. It isn’t a matter of if but when.
Neither my son nor I have cancer at the moment. It’s actually my wife who has battled cancer. I wrote about it on Medium and will eventually write it about it here too.
This post is not just about cancer, though. This is about grief, loss, fear, and hopelessness. If you are feeling lost right now, I hope this helps you feel less alone.
It took me a long time before I was able to put those feelings in the rearview mirror. I was lucky to have my wife and a loving, supporting family but people can’t really relate if they’ve never experienced depression or mental health issues.
“Can’t you do something you like so you aren’t depressed?”
That’s not how it works, though. It’s like asking if there’s something you can to not be epileptic.
That may seem like an extreme example, but it’s not as far off as it may seems. Both epilepsy and mental health issues cannot be cured, only treated and maintained. Our brains are wired differently.
For any new readers, that is why I write these posts as I do. I want people who suffer know that, I understand and I want to help.
The help you may need
I am always willing to be the person with whom you can speak. I can be an ear, a shoulder, or a teary eye. It makes no difference if we know each other or not. If I can help, I will try.
Your story matters. You matter. Even in the darkest moments, there is someone willing to listen.
If you think I can help, please reach out. Send me a message on here.
If you feel like you might harm yourself, you need to dial 988 on your phone and speak to someone at the suicide hotline.
If you need more than that, please go to the emergency room.
You are not alone. You belong. Please stay.
What is Peutz-Jeghers syndrome?
*If you are experiencing GI symptoms, please get checked out. Proactive care matters.
If you have been dealing with unexplained GI issues, there may be some useful information below. I have tried to keep it as accessible as possible, but if medical topics make you squeamish, feel free to stop reading here.
Peutz-Jeghers syndrome (PJS) is caused by a mutation in the STK11 (also known as LKB1) gene, which normally acts as a tumor suppressor. It is a genetic condition, and there is a 50/50 chance of passing it on to your children.
Recognizable Symptoms
A blue-black freckle-like discoloration on the lips, mouth, or appendages
Chronic anemia
Nausea
GI bleeds
Other Complications
Bowel intussusception
Think of those old Wiggly Water toys. Your bowel folds in on itself like that.
Bowel obstruction
Polyps can grow inside the intestines and disrupt normal function, causing pain and other GI issues.
Men and women with PJS are also at increased risk for certain types of cancer. If you’re experiencing any of these symptoms, or have a family history, talk to a GI specialist, even if your parents were never diagnosed. They might not have known.
Tests & Treatment
There is overlap between these two areas. You may be tested for or monitored by any combination of the following:
Colonoscopy
Upper endoscopy
Capsule endoscopy
Magnetic resonance enterography (MRE)
Genetic testing
Treatments may include:
Double-balloon enteroscopy
Surgical bowel resections
Polyp removal during routine scopes
Unfortunately, there is no cure for PJS. Routine monitoring and early intervention are the options. These treatments help reduce complications but cannot eliminate the condition.
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