Cowden’s Syndrome – I guess it’s here to stay!

So it was a really nice doctor – or two, who said in the summer of 2011, you have to take your daughter to a genetecist.  There are too many unconnected “dots” I was told.  Someone will be able to diagnose something.  But, having gone almost 8 years with her multiple surgeries, countless doctors appointments, and unexplainable ailments, I had my doubts.  I spoke for an hour with the genetic counselor before the visit.  I think it took the doctor all of 20 minutes to say, “It’s a PTEN mutation, most likely Cowden’s Syndrome.  We will test her today.  She will be positive, and you will be too mom.”

P – what?  Cowden’s Syndrome – What the hell?  How could he know that from looking at us?  Was I missing something – some kind of freaky attributes that made us so obvious?  I left more self conscious than curious, and never even looked up PTEN – until we got the call that she was positive.  By the time they called me in for my blood test, I was sure.  I had read everything I could get my hands on.  It explained not only her surgeries, and many of her issues, but also my own.  My positive test results a few weeks later didn’t even startle me.  What did was the admonition from the doctor.  “These cancer risks are real, and you are in real danger.  You both have to be watched, but she is only 8.   You are 38.  The threats are much more severe for you.”

Processing the permanence of a genetic disorder took some time.  Ok I am lying.  I still have not fully absorbed what all of this means, and the reality that it is here to stay.  Mom was tested.  She is negative.  Little sister was tested.  She is negative.  Happy for them – truly happy.  But, what the hell?  Where did it come from, and why did I have to give it to my beautiful girl?

Diagnosis was followed by a whirlwind of tests.  First for my baby (ok she is my one and only so even at 8 she is sometimes my baby)  Brain MRI – negative.  Thryoid sonogram – positive for 4 nodules.  Biopsy – suspicious.  Transfer the slides to a new hospital – precancerous cells.  So we come back every 6 months we are told.  Kicking and screaming, I wanted more.  More reassurance that when we come back in June my little girl won’t have thyroid cancer.  There is no reassurance.  just reality, and appointments.  June 14th – tick tock.

And her AVM (Arteriovenous Malformation) that mangled web of veins and capilaries in her knee because something went wrong off the femoral artery in the leg – well we can thank Cowden’s for that too.  Four surgeries later they still can’t fix it.  Said there is a leak in the artery.  A small one they say, as if I should feel better – like the leak in a tire.  It’s slowly bleeding into the knee joint, causing its evil damage while we wait to see if the doctor 5 hours away can fix it.  Celebrex masks the pain, and a low dose of xanax puts her to sleep at night.  New images the last week in June will determine the rest of what her summer holds.

So I try not to be angry, as I read the new studies.  85% lifetime risk of breast cancer, 35% risk of thyroid cancer, 28% risk of endometrial cancer, 9% risk of colon cancer, 33% risk of kidney cancer, and 6% risk of melanoma.  Those are only the ones to be named.  The PTEN gene, responsible for Cowden’s Syndrome and a few other disorders is the tumor suppressor gene.  It regulates cell growth.  So since ours is broken- tumors grow.  Benign and malignant – they grow.  And its our job to seek them out, find them, and remove them – before they hurt us.

Vigilant is the word I use.  We remain vigilant, about every body part.  And I am watching for the both of us.  Spending hours at doctors appointments, checking.  Explaining the syndrome to doctors who have never heard of it.  What are the odds of two 1 in 200,000 conditions sitting in your office at the same time?

Saturday we go to the local endocrinologist with my daughter.  Her nipple hurts.  Really hurts to the touch.  She has already had one breast sonogram that was deemed “normal,” but how can we be sure?  Everything has to be checked.  Is it normal development?  Is it supposed to feel like that – or is there some evil tumor lurking?  I thought I was paranoid.  Actually I hoped I was paranoid, until I met a mom online whose 8 year old had stage 1 ovarian cancer.  That 8 year old is 22 now, because her mom was vigilant. 

So that same vigilance led me to the decision of prophylactic mastectomy earlier this year.  Mom is a breast cancer survivor, and I had had 7 suspicious biopsies over the last 14 years.  That’s it.  With an 85% lifetime risk, my chances were imminent.  So I went for an MRI on February 1st, just to confirm I was “clean” and had the double mastectomy with immediate implants on March 5th.

On March 13th the pathology report that was handed to me by the surgeon read “Ductal Carcinoma in Situ.”  Along with all sorts of other scary crap – I had breast cancer.  I had it, and I never knew it, and the MRI never saw it – but it was gone.  I hugged the little girl whose diagnosis saved my life.  I took a great big deep breath, and began to like those silicone implants.  One battle against Cowden’s Syndrome – won.

On May 16th I have a hysterectomy scheduled.  A forboding looking polyp found its way into my uterus.  Risk of endometrial cancer is too high to take chances.  So out it comes – all of it.  I can only hope and pray that the same results come through on pathology.  Either it was benign – or it was so contained that it is over.  No worries.  For that sigh of relief I have to wait a few more weeks.

So this is it.  Life with Cowden’s.  I won’t let it define us.  I won’t let it become who we are, but it is a definite part of us.  It factors into every decision we make.  My girl is wise beyond her years, and already asks questions like – when will I have to have my “boobs cut off?” and “will my kids have to go through this?”  Questions I can not answer, because I just don’t know.  My husband, her Daddy is a godsend – keeping the mood light and the laughs flowing.  We have no idea what tomorrow will bring, but I guess neither does anyone.

Maybe the fact that we know about this disease, about these risks, will be better in the end.  Maybe, just maybe, one day this will all make some sense.  One thing is for certain – we will stay vigilant.  That is for damn sure.

4 thoughts on “Cowden’s Syndrome – I guess it’s here to stay!

  1. My daughter was just diagnosed with Cowden’s. Ironically, Cowden is my aunt’s married last name. We are still waiting for the insurance company to approve my husband and I for genetic testing. My daughter is only 3 so we were lucky to have found this early. Thanks so much for sharing your story. She also has a deletion of chromosome 9…therefore she is “lucky” enough to have 2 rare genetic diseases. I don’t care that she has the mutation or the missing chromosome…she is my sunshine and we tried many years to be blessed with a child and struggled through the pain of miscarriages. Thanks again for working so diligently to make others aware of rare diseases and Cowdens. I am so thankful that I stumbled upon your blog. Thank you.

    • Three is so young! Your nerves must be shot. I take some solace in knowing we are not alone. I hope you do the same. I am around on facebook as well – there is a “beating cowden’s” page. Feel free to message me any time.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s