It’s This Day to Day Living…


And that might be an accurate description of my current assessment of living with Cowden’s Syndrome.

It’s so hard to put into words.  Those who don’t understand are likely to think I’m insane.

When you know your mission, you carry it out.  You are driven.  Focused.  There is something that needs to be accomplished, or an adversary beaten.  You have a crystal clear goal.

As difficult as those moments have been, I am starting to find the ‘forever’ aspect of this syndrome to be overbearing at times.

Some days it seems no matter which hurdle we clear, something else is in the line of fire.

I waffle between doctors who are either not interested, or are so overworked that they lack the time, energy, or desire to research and think from the alternate view required for a 1 in 200,000 mutation on the PTEN (tumor suppressor) gene.

Research.  Real research  (yes, I am smart on the internet and know what to read and what to brush off,) is surfacing so often that it is hard for me to even keep up.  I don’t expect my doctors to be on top of it.

I expect them to treat me as a partner in my own care.

They have gone to medical school.  I have not.  However I have more extensively studied Cowden’s Syndrome than they ever will.  And I still have a great deal to learn.

Gone are the days when “doctor knows best,” and I should comply without question or explanation.  This is my life. This is my daughter’s life.  And wherever I can assist, I intend for those lives to be long and strong – physically, mentally and emotionally.

Tuesday the 26th was my “doctor day.”  It became a necessity years ago that I take a personal day and “stack” my annual appointments.  This makes the day out of work worth it.  Some years things are smooth.  Other years, well… not so much.

After a fall at work in January, where my 5 foot 7 frame ever so gracefully landed on my right shoulder and implant, I have been uncomfortable.  The implant that was previously easy to ignore was prevalent in my thoughts all day.  It is not ruptured, and I was able to get MRI confirmation of that.  However it is just annoying.  It sits slightly off place, a constant reminder to my brain and body that it is THERE.  I am grateful it is not painful.  I am not content to live with this situation indefinitely.

My discomfort, and the knowledgeable people I share some Facebook support groups with, let me down a path of research on silicone implants.

I learned a whole bunch of things.  Most of those things are probably inconsequential in my life, but they made me angry.  I had double mastectomy with immediate implants in 2012.  In 2016 the implants needed to be replaced way ahead of schedule. (With a maximum of about 10 years on average).  I had one breast surgeon and two plastic surgeons.

No one spoke to me about a condition called BIA-ALCL (breast implant associated anaplastic large cell lymphoma).  The risk is minimal, but it exists.  No one ever talked to me about it and allowed me to make an informed decision.  We have a rare disorder that predisposes us to greater cancer risk.  No one has thoroughly studied the occurrence of BIA-ALCL, and certainly no one has considered it in relation to PTEN Mutations.  No one knows.  But, I deserve the uncertainty discussed.

Further down the same page is the screening recommendation that women are screened via MRI for silent rupture 3 years after the first implants, and every 2 years following.

Not a word. Ever.

https://www.fda.gov/ForConsumers/ConsumerUpdates/ucm338144.htm

There are other pages.  Solid articles.  But if you read the above link you get the point.

So I saw my breast surgeon first.  All was good on exam.  That was a relief.  I began a discussion about the above, and was really upset by her flippant response.  I was told I was reading too much on the internet.  I was told that there was no conversation about possibly removing my implants.  Granted this is not something I was ready to do tomorrow, but it was something I wanted to learn about.  I was told I would be subjecting myself to unnecessary surgery and she would counsel my plastic surgeon against even entertaining it.

I honestly felt like I had been hit.

I asked her what her thoughts were on BIA-ALCL related to Cowden’s Syndrome.  She had no answer.  I asked her how many PTEN patients she sees. 20? No 10? No 5? No, less than 5.

I asked about screening MRIs.  I was told they were “unnecessary”.  I referred her to the above link.

I could not believe that I sat in the middle of a major cancer center in New York City.  I felt violated and angry.

Next came my oncologist.

She is a kind woman with very few answers or helpful tips on risk management.  She pretty much looked up Cowden’s and checked that I have no breasts, no uterus, and half a thyroid, so I should be easy to manage.  I asked her questions about bone density,and heart health, (30 years of thyroid replacement, 7 years into forced menopause) and she simply said, “I don’t know.”  I asked about the lymphangiomas on my spleen that currently outsize the spleen itself.  She started to talk to me about spleenic “cysts” but I drew her back to lymphangiomas and the vascular component that often affects PTEN Patients.  I have not desire to lose my spleen, nor do I have a desire to harbor a potentially destructive organ.  We settled on a bone density and an abdominal sonogram to measure the lymphangiomas.  At least this makes sense to me.

Off to the otolaryngologist with a hopefully not PTEN problem.  He did vocal cord surgery for me 2 years ago to remove some growths.  This day the vocal cords were clear.  The right ear however has been an issue since September.  I spent a bit of time treating for migraine, and blaming the chlorinated pool spectator sections.  I had 4 doctors prescribe antibiotics when they saw fluid in my ear, and another a short course of steroid.  All cautioned me about hearing loss.  I regained my sanity to some extent when a friend gave me Mucinex sinus max.  Something about it helped the pressure.  The doctor got a look in my ear and used his camera to show me the fluid inside the right ear that is not draining.  He also looked deep in the ears and told me something was “off” with the ear canal.  But that was as far as he would or could go.  He gave me the name of a doctor to treat me.  He also told me to get a hearing test, and to understand that they must find a cause prior to any treatment.  April 18th was the first I could get.  Mucinex for all till then.

The endocrine surgeon came into my world post diagnosis in early 2012.  I believe her function was to evaluate regularly the remaining 1/2 thyroid, as thyroid is one of the greatest PTEN related cancer risks.  My thyroid was partially removed in 1993 due to a diagnosis of “multi nodular goiter.”  At the time, the prevailing wisdom was to leave one of the lobes intact and suppress it with high doses of synthroid, keeping the TSH (Thyroid Stimulating Hormone) low.  For years I operated with a lower than normal TSH, but it worked for me and seemed to keep the remaining tissue quiet.

When I was diagnosed and my team changed, so did some of the management theories.  This endocrine surgeon, who was only managing my medication as a courtesy, not as a regular practice, preferred a slightly higher TSH level.  We jousted a few times about fatigue, and other side effects that come with adjustment.  We had made peace on a split dose, until I had my levels measured in January and they were WAY to high for my physical comfort zone.  After my initial glee that I was not totally losing my mind, and that I needed medication, I started to wonder why the level change.  My weight was consistent…. my activity level consistent…

She did a routine sonogram of my neck in the office.  For the first time in 7 years she paused.  “There are small calcifications.  They were not there before.”

I asked about a biopsy and she told me she would not even know what to biopsy.  She’d be “guessing” as the thyroid bed is undefined.  She said she wanted me to consult with a colleague who is an endocrinologist well versed in molecular genetics.  She told me it was no rush.  She was going to Email his staff, and I could reach out when I have a school break in April.

That was Tuesday afternoon.

Wednesday morning I received a call that it was suggested I book the first available appointment.  I did so for March 12th.

I was told to obtain an ultrasound for basis at a local facility.

Thursday morning the phone rang again directing me to get the ultrasound at the hospital before I see the doctor.

Things seem to have moved from very casual, to lets not dawdle, quite quickly.

I’m not emotionally attached to too many non-essential organs anymore.  I’m vested in getting anything out before it causes me trouble.

Life is a juggling act.

I have plans.

Doctors appointments get in the way.

I know people who use sick days to vacation.  I use mine on the Gowanus Expressway.

I want to get it together, and see people.  I want to have casual conversations and catch up on people’s lives.

I will.  One day.

But for now the energy remains focused on a kind, lovely, compassionate teen, and keeping these two “Rare” ladies in their best health.

Oh, and that fall in January left me with a pain in my right foot that just won’t quit…

Tick tock… the waiting continues…

And we remain forever

#beatingcowdens

 

 

Rare Lives, Rare Disease Day, and So Much More to Come

Thursday, February 28th, 2019 is World Rare Disease Day.

There was a point close to forever ago when that meant nothing to me.  I had never even heard of it.

Our initial Cowden’s Syndrome diagnoses came in the fall of 2011.  Meghan got her’s first, and mine followed soon after.  2012 held the most insane whirlwind of medical and surgical experiences we have ever known.

By the time Rare Disease Day came around in 2013, we had begun to feel the need to raise awareness of our PTEN Mutation causing Cowden’s Syndrome.  Even though we were grateful to have each other, to be 1 in 200,000 can be isolating.

At the time my girl took to the Global Genes Project and learned all she could about rare diseases.  She was most struck by the reality that many children diagnosed with rare diseases don’t live to see their 5th birthday.  She promised she would always try to speak, not only for herself, but also for the “littles” who couldn’t tell their story.

Meghan’s Speech in 4th Grade…

The text of her speech – Meghan Speaks Out!

In 2013 she spoke at her school and at mine.  We handed out denim ribbons, and started opening eyes.

In 2014 we stood together, as she was a student at my elementary school.  She created a video, we did a fundraiser.  There was something empowering about sharing knowledge.

February 2013 Article

In 2014 she met Borough President Oddo and they are still in contact.  He has been a mentor for her through the years.

RDD Blog Through Meghan’s Eyes 2014

Rare Diseases as a whole are common.  One in ten people suffers with a rare disease.  Yet, there are over 7,000 rare diseases and each carries with it it’s own specific challenges.  More than 350 MILLION people suffer from a rare disease, yet it takes 8 years on average for a diagnosis.  https://globalgenes.org/rare-facts/ In the interim, so many people trudge through the day to day challenges alone.  Typically there is no one to relate to their experiences, and even the best intended friends and relatives often tire of the chronic nature of a disease that won’t ever leave.

Raising awareness became a mission of Meghan’s to help people become more compassionate and kinder towards each other.  We have always worked with the understanding that “everyone has something,” and the more we learn empathy and compassion, the further we will get.

Meghan’s early days of speaking in schools, and creating awareness videos evolved into “Jeans for Rare Genes” a fundraiser involving friends, family, and the community.  There have been 4 so far, each one different than the ones before, but all helping to raise funds and awareness for rare diseases.

In December 2013 the PTEN Hamartoma Tumor Syndrome Foundation was born, through the blood, sweat and tears of Kristin Anthony, and with a village, it is growing into a helpful, guiding light in our community.  And, finally Meghan has found the focal point for the fundraising!

(check out some of the links below for some of our journeys)

RDD Meghan’s Video 2015

Twelve Surgeries in Eleven Years Article 2015

RDD Meghan’s Speech and Video 2016

Understanding Cowden’s Syndrome Article

Through the years my girl has been honored as a New York State Woman of Distinction, the youngest ever, in 2016.

She was awarded the “Humanitarian Award” at the Teddy Atlas Dinner in November of 2018.  She has racked up close to 20 surgeries in her young life, and yet she has managed to remain a scholar and an athlete.

Lives now forever intertwined. Kristin Anthony celebrates Meghan’s honor with us.

Celebrating Rare Disease Day is sometimes like going to the worst party ever.  Or, maybe it’s the best.  I guess it depends on how you look at it.  We’re here… stronger.  The community is growing.  Support exists.  Hope exists.

Last summer we were contacted by Aldo Soligno on behalf of the “Rare Lives Project.”  He had worked on this project in Europe and had had much success raising awareness to the government about the lives of people with rare diseases.  We were touched to be asked to be part of his American pilot of this project.  And, while it has not received the funding he had hoped, the release of this summer’s photos on social media has been therapeutic for both of us.

Here are some of the picture released to date.  Photo credit Aldo Soligno.

Please follow “Rare Lives” on Facebook, Instagram, and Twitter to help them raise awareness of all rare diseases.

Please follow the PTEN Foundation

on Facebook, Instagram and Twitter.  Follow their community work, their fundraising, and their efforts to unify with PATIENT FIRST.

This neat initiative is taking place right now, among others!

https://www.facebook.com/ptenrocks/?sfnsw=cl

We are perched in exciting times.  It is a time to reflect, to gather strength and resolve and press forward.

This year I know more people with Cowden’s Syndrome, and more people with other rare diseases.  We are allies and advocates.  We are parents, sisters, brothers and friends.

This year I hold close in my heart a friend’s little one, waiting on her diagnosis.  My heart feels their anguish.  My faith tells me their help will come.

There are still struggles.  Plenty.  But, before telling those stories it was time to remember from where we came.

One thing will not, and has not changed.  We remain forever

#beatingcowdens