I don’t know anything about “Cowden’s Syndrome…”

After last night’s late night strep diagnosis, there was no way I could send her to Bible School this morning.

But, I had an appointment with the breast surgeon – a routine follow-up that I knew would take 5 minutes.

(That is why I had scheduled it July 16th when I was ALREADY IN the city- but last-minute doctor vacations are just one of the many inconveniences of life these days.)

I knew it would take 5 minutes – after I drove through an hour and a half of traffic, parked the car, walked a half mile, and waited to be called.

traffic

Truth be told it was lest than 5 minutes.  A three-minute groping of my silicone implants and surrounding lymph nodes.  The proclamation was made that everything looks “great” and I should return in 6 months.  I actually was probably dressed and on my way before 5 minutes were up.

fake boobs

But, I HAD to go.  It would have been too easy to cancel.  It would have been too easy to blow it off.  And what if?  What if that one renegade cell…  Nope, I HAD to go.

And, Meghan had to come with me.  She trekked like a trooper to the main hospital to get another copy of the CD of the MRI of her hand for the orthopedist appointment at 2:30. Then, we traveled on the journey to the Clinical Cancer Center.  I had to push her in the push chair today.  The strep was knocking the wind out of her this morning and the hips and knees were bothering her.

push chair

It was also bothering her that people were staring at her.  So it was a great opportunity to give her LOTS of really LOUD pep talks.  I hope a few people overheard.  Some people are really dumb.  Others mean well – but for goodness sakes, don’t just stare at the child.  Say “hello,” “good morning,”  ANYTHING… UGH!  But anyway…

And after the 5 minute appointment there was another hour in travel time back home.

time-warp

Just in time to let the dogs out and run to pick up some chicken breast cold cuts for her to eat before physical therapy.

As she inhaled the chips and chicken I spoke with the therapist.  I am always just so impressed by how smart she is, and how much she actually cares about Meghan.  She took the time to READ about Cowden’s and to try to understand WHY and HOW the small fatty masses on her palm are affecting her.  If only there were more…

Right after therapy it was off to the orthopedist looking for a few answers about the hand and the wrist.

That’s where things unraveled.

Ok.  I understand it’s a rare disease.  I do.

I get that with an occurrence rate of 1 in 200,000 you may not have touched on it in medical school.

rare-disease-day-feature

But, you insisted on the paperwork completed online a full 10 days before the appointment.  You could have read it, or had someone flag it.

And, I made the appointment with the doctor who had been prepped already.

Bait and switch?

The orthopedist today was amazingly young.  I guess the big 4-0 is approaching fast, because I could scarcely believe he was out of medical school.  Everyone seems to be looking younger and younger.

No need to remind me of what that implies.  I get it.

We have seen LOTS and LOTS and LOTS of doctors.  MOST would rather make something up than admit they didn’t know something, which is a problem in and of itself.  Not this guy.

He examined her hand.  Validated the pain.  Looked at the MRI report.  Declared there to be “nothing orthopedic” about her problem.  And then he said,

I don’t know ANYTHING about Cowden’s Syndrome, so you’ll have to tell me what it is and what it does.”

Cowden's Syndrome

I almost asked him to repeat himself, but that would have just been to buy me time for my response.  So, as I was gathering my bags and looking to exit as fast as I possibly could, I gave him a brief lesson on Cowden’s Syndrome.

This doctor was far younger than me.

This is the technology generation.

Step out of the room and hit google.com

The first link is this one http://ghr.nlm.nih.gov/condition/cowden-syndrome

What is Cowden syndrome?

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person’s late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.

The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.

Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

Read more about Bannayan-Riley-Ruvalcaba syndrome.

How common is Cowden syndrome?

Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.

********************************************************************************************************

Was that so hard?  Meet me half way people.

It’s still hard for me to believe that cost me a co-pay.

Let’s see if the hand surgeon on Thursday can offer us something better.

Or maybe the rheumatologist will actually call me back.

Taking bets?

Every day is a great adventure!

Exhausted

My Wish

What would I do?
What would I do?

I have been quiet this week.  That in and of itself is unlike me.

I am tired – well bordering on downright wiped out.

There are a few more weeks of summer to go, and aside from a well planned Disney Trip, set in place in January – there seems to be precious little to look forward to.

Meghan has a short list of “have tos” which I plan to do EVERYTHING in my power to work out for her, but really every effort I made to keep this summer better – to “streamline the doctor visits” seems to have failed miserably.

Today she began her summer homework.  While it is reasonable, it is one more thing on a list of “have-tos” for a kid that just wants to be a kid.

There is no camp for Meghan.  It is all doctors appointments – all the time.  And when it is not her appointments it seems to be mine.  She is swimming three nights a week on a new team, at least she is LOVING that – but we have barely been inside our previously overused pool.

Wishes 1

And its funny, while she and I have both had appointments of almost equal number in the last few weeks, I feel so much less stress about mine.

The geneticist  the endocrine surgeon, the gyn oncologist, the abdominal MRI, the plastic surgeon, and the oncologist.  The spleen survived its next cut – and can live for another 9 months.  The 3.5 cm roundish lymphangiomas are stable.  That’s all we ask for now.  The thyroid lymph nodes – not suspicious enough to biopsy.

The plastic surgeon, well the LOVELY woman offered me a boob job to correct the “asymmetry” caused by me shoving the reconstruction all into one day.  Not this year, but thanks.  Good to know the offer stands indefinitely.  For now, I have other things to do.

So I have only one more of my appointments lingering, a late July follow up with the breast surgeon.  I thought of blowing it off and then realized how dumb that would be – for so many reasons.  So, I will go.

But Meghan’s appointments, those are the ones that keep me up at night.  Those are the ones that strike fear and anxiety in the core of my soul.  My heart beats outside my body in this little girl.  I can not sum up in any number of words the depth of my love for her.

So to say this summer, and especially this week has been sheer hell would be the understatement of the century.

worry 2

Her appointments began the day after school ended.  The lengthy thyroid sonogram bought us another 6 months.  The pituitary function test was a train wreck, but the call this week claims the results were OK.  I want to feel more relieved.  But its hard.  I am waiting to read the report myself.  “Doubting Thomas?”  Maybe.  Realist – probably.  Something is not quite right, but at least its not SO wrong it has to be addressed today.

The geneticist began to speak of carnitine issues, and I am waiting to hear of a possible muscle biopsy.  In the interim I bought carnitine.  Lets see if we can cut that one off.

The vascular surgeon examined the wrist, painful since early June, and the knee.  He wants an orthopedist on board, but wanted me to consult with the rheumatologist about the wrist, and then scan the knee that had the 4 surgeries, because its been over a year.  The rheumatologist concurred on the MRI studies, so we went forward with the wrist first.

Saturday, as I wrote about previously was hell on earth.  I have been through a lot of MRIs with this kid, and the behavior of the two techs scared me to my core.  I was assured upon exit, that the results would be available to my doctor Monday that passed.  Well multiple calls, over the course of Monday and Tuesday led to a promise the results were being released Tuesday.  “It’s a complicated read Mrs. Ortega.”

Wednesday morning  – still nothing at the vascular surgeon’s office, only to find the CD and report left by courier at 10 am.  They will make it by 3 I was told.

A return call to the surgeon’s office at 4:15.  “They just got here, but the doctor is gone – emergencies.  He should be able to look at them tomorrow.”

Some time around 4 AM my daughter climbed into bed between my husband and I.  She had been awake long enough to finish her book, but she just couldn’t settle over the pain in her wrist.  At about 6:15 this morning she nodded off.  I tried desperately to find my peace.

God's got this

And all day today, again, I held my phone.  We skipped the pool in between the “have tos” of getting the oil burner cleaned and our annual trip to the dentist (normal stuff.)  I refused to be far from my phone.  But as minutes became hours, my hope dwindled.

A call to the office at 4:30, “Sorry, he never made it in today, but Meghan’s chart is on top of his desk.  He has office hours tomorrow.”

Six days.

Unnecessary torture.

Six days.

Wondering, worrying.

Even if the report – by some freak of nature reads “normal” I can’t even be pleased, because the pain is not normal.  It is real, and it is consistent, and it has gone on too long.

I wish for a lot of things in the world.

I wish for children and their parents not to suffer with illnesses or adversity of any kind.

I wish for relief for those in physical, mental, and emotional anguish.

I wish for peace in the hearts and minds of the caretakers of those who struggle.

But today I also wish something else.

I wish that EVERY SINGLE medical professional who performs a test – from what is perceived as insignificant, to critical recognizes the power of their words, and their actions.  I wish that EACH of them understand what it is like to be on the receiving end of cryptic messages, grossly extended tests, and precious little reassurance.  I wish that EVERY doctor who receives a call from a patient panicked about their results be PROMPT in their response.  I wish that EVERY one of them, who goes to work each day and forgets that our child, parent, sibling, loved one exists will at some point in their life be on the waiting side.

I WISH for every one of them – from the techs, to the couriers, to the office staff, to the doctors- to have the opportunity to await the results of a test from someone they love dearly.

Then MAYBE, just MAYBE they will understand our torture.

Hang on Meghan.  Summer is coming.  Hang on.

summer

 

Champions of Hope – Global Genes Project

I received this in the mail today, and thought it was an error.
I received this in the mail today, and thought it was an error.

I actually Emailed the woman on the card to tell her they had made a mistake.

She assured me they hadn’t.  She even forwarded me the nomination form that had been sent in on behalf of Meghan and I.  Touched.  Stunned.  Honored.  Flattered.

I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness.  She is all in.  She is a preteen.  This is the time to address internet issues all the time.  I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw.  She agreed.  She is proud of this, and so am I.

We are big supporters of the Global Genes Project.  We wear the denim ribbon on our necks every day.  (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)

The winners have been chosen.  I wish them all the best.

I have no idea how many people across the world received this glass block that we received.  It doesn’t matter, because it won’t make it any less special.

We haven’t done much – just openly told our story.  But, apparently to some, that is all they needed.

I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about.  Separate we are weak.  Together we are strong.

And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you.  You continue to make a difference every day.

2013 “Tribute To Champions of Hope” Gala

2013 RARE Tribute to Champions of  Hope Gala

 

They will celebrate in California on September 21st.  We will celebrate right here, and with them in spirit.

There are people making a difference for our “Rare” community at large.  I am eternally grateful.  One day, all this will change… (source) http://globalgenes.org/rarefacts/

RARE Facts and Statistics

Statistics and Figures on Prevalence of Rare and Genetic Diseases

Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.

Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.

  • There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
  • Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
  • If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country
  • In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life
  • The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
  • According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
  • During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
  • According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)

For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others.  I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.

I will rest thinking of my daughter – the future geneticist.  One who WILL make a difference!

I have always wanted to be a doctor!
I have always wanted to be a doctor!

A “Guest Blogger” for our 200th Post!

post_200

I wanted to make the 200th post of “BEATINGCOWDENS” extra special, so I asked my (almost) ten year old daughter Meghan to be the Guest Blogger!

1. How has Cowden’s Syndrome changed you? 

Cowden’s Syndrome hasn’t changed me.  It has always been a part of me.  Knowing I have Cowden’s Syndrome has only made me more aware and more prone to understanding my body.

2. What are some things you want people to know about being a kid with Cowden’s Syndrome (PTEN Mutation)?  

It’s hard not to be like other kids, but I am really glad all of the problems are found earlier than later.

3. What makes you glad you were diagnosed?

My diagnosis forced me to look at what was good for me and what wasn’t.  I had to give up soccer and dance, but I LOVE swimming, and I feel like I am getting better at it every day.  I am always trying to improve physically because I need to stay strong.  I am glad I found a way to compete with other kids, and not always be last.  I am also building swimming friendships.

Spring 2013
Spring 2013

4. What makes you sad/scared/ or worried you were diagnosed?

I feel more vulnerable, and sometimes a bit weaker because I can’t do everything the other kids can do.  I can’t run and play outside like them.  My weak immune system causes me to get more viruses, and I worry about thyroid cancer too. I try to find the positive in every negative and I don’t let worry get the best of me.

5. What is the most frustrating part of Cowden’s Syndrome?

I go to so many more appointments than any of my friends, and lots of times we have to wait forever.  I keep busy at my appointments with my books, my iPad, and my Rainbow Loom.  It is taking up the first few weeks of my summer vacation, and I would rather be home and bored than running back and forth to Manhattan every day!

6. Do you have any kids that you can talk to about your diagnosis?

I feel like I have three kids I can really talk to that understand.  My friend Conner is in Colorado.  He also has Cowden’s.  He is about my age and really funny.  Also, I can talk to my friend Georgia in Australia.  She is also about my age, and even though we are really far away from each other, she is a very nice girl.  I am glad I know her.  I have been able to FACE TIME with these far away friends.  Sometimes the time difference gets tricky, especially to Australia.  The first time I saw Georgia it was 10PM here!  We talked for over an hour!

I also have a friend on Staten Island,  who I feel like I can talk to.  Even though its only been a short time, I hope our friendship continues to grow.

7. What do you hope to do when you grow up?

When I grow up I want to be a genetecist.

I have always wanted to be a doctor!
I have always wanted to be a doctor!

I feel like I will know a lot about it.  I also want to do agility training for dogs.  Right now I have two dogs that I love very much, Allie, and Lucky.  I always want to have dogs.

Lucky and Allie
Lucky and Allie

8. How do you plan on using your diagnosis to make a difference in the world?

I plan on making all rare diseases more well known.  I want to do a movie night at my school and raise money to donate to The Global Genes Project – they help all rare diseases.

I want more people to understand rare diseases, and do more research so there can be a cure.

But, all that starts with awareness.  Last year I asked my parents for something to wear, a symbol (like a pink ribbon) that would represent me, and my struggle with Cowden’s Syndrome.  The Global Genes Project uses a denim ribbon and the saying “Hope It’s in Our Genes.”  I really like that symbol so Mom’s friend made it into a necklace for me.  It is hand engraved, and says “First of its kind.”  It is really special.

A denim cause ribbon, crafted after the Global Genes Project's slogan, "Hope it's in our Genes!"
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”

Mom and Dad have one now too.  One day I hope to look across the room and see someone else wearing one.  I want the denim ribbon to be as popular as the “pink ribbon”

********************************************************************************************************

Hi. I’m Meghan.

 I am really excited to be Guest Blogger.  Life with Cowden’s is hard.  I try to focus on all I can do, and like to do – especially swimming and reading.  I’m an (almost) 10 year old.  I wanted a normal life, but really when I think about it my life is the only one I know.   Even with its cons I’m happy with it.  Cowden’s Syndrome is a real pain,but its brought out the best in me.  People need to be aware of these diseases.  It feels great when someone understands you a tries to lend a hand.  

Thanks For Reading!

Love,

Meghan

My Young Teacher

As I was getting ready to say goodnight to Meghan a few days ago, she was visibly upset.

During our conversation I learned that she felt the cleaner I had just given her for her face had made the small bumps she has (courtesy of Cowden’s Syndrome) more noticeable than before.

I didn’t see it.

I look and I see my beautiful daughter – radiant inside and out.

God's got this

Cowden’s affects the skin, and sometimes we get these obnoxious small bumps in all places you would never want them.   Dermatologists with little experience with the syndrome don’t recognize that each one is in fact a tiny benign tumor,  in the hair follicle, causing inflammation.

She is almost 10.  She is 5 feet tall.  She has fantastic hair and a great attitude about life.  But, like any girl in this society she gets self conscious about her appearance at times.

So, in my effort to reassure her that her “bumps” were most noticeable to her, I showed her my legs.

Both legs are riddled with bulging, pulsating, colorful varicose veins.  I have had 7 surgeries to keep them under control and eliminate the pain that goes along with them.  I have over the last 2 years lost about 35 pounds.  They just don’t let up.

rare mom and meg

I told her how self conscious I am about my legs.  I told her how hard it is to wear a bathing suit, or shorts.  I told her that  I have only bought my first shorts in over 10 years in the last 2.

I know now what I didn’t know then – that these relentless varicose veins are likely a credit to my Cowden’s Syndrome, and the same path that led Meghan to that pesky AVM in her knee – a generation earlier presents as these veins in me.

She looked at me, pointing out my own insecurities, and she said Mom, you have to understand – it looks worse to you.  And you have to remember, “Some people only wish they had legs… or legs that work.”

And there it was.  My girl again.

“Sometimes your blessings come through raindrops, sometimes your healing comes through tears…” – Laura Story

hope its in our genes

We took the iPad.  We looked at pictures of veins.  We looked at pictures of acne.  We looked in the mirror.  We hugged.

Sometimes its so hard.  One battle after another on this journey.

I don’t know that I could handle anything so gracefully without my young teacher.

Restoring some of my faith…

I am of great religious faith, but of really little faith lately in government and politics.  Corruption abounds.  Decisions befuddle me.

myriad 4

I watched with great interest this week as the Supreme Court heard the case of Myriad Genetics, looking to obtain a patent on the BRCA1 and BRCA2 genes because their work was largely responsible for encoding these genes that drastically increase a woman’s risk of breast and ovarian cancer.  BRCA has been in the news alot lately because of Angelina Jolie, and I hope her ordeal has served to increase awareness of genetic diseases and their potential consequences.

myriad 1

BRCA is not the gene affected in my family.  In our house its PTEN, another gene that when mutated greatly increases the risk of breast, thyroid, uterine, kidney, skin, and other cancers.

That however, is not the point.  So many people missed that this case was even in the Supreme Court, and maybe I would have too – before PTEN entered our lives.  But, genetic mutation or not  – the implication that a company could PATENT a human gene, and by doing so essentially block out research from any other company or individual is downright frightening to me.

My body, my genes, my cells, or anything else a part of me do not belong to any company.  My body is a gift to me from my Creator – plain and simple.  I care for it the best way I know how.  I seek out natural and medical cures where each is appropriate.  Between my daughter and I we see about 15 doctors regularly.  We weigh out their opinions, and we make our decisions.  We replace them if they don’t meet our needs.  This is a freedom that is inherent in this country.

http://www.nytimes.com/roomfordebate/2013/06/06/can-the-human-blueprint-have-owners/permitting-ownership-of-genes-stops-research  ( An interesting “before” article)

The thought that a company could patent the PTEN gene, and by doing so, essentially own the rights to a part of my body – AND , even worse restrict the already under-served research for this rare disease had me flat out outraged.  I have already had breast cancer.  I have already had a double mastectomy.  I have already had a hysterectomy.  I will be 40 in November.

myriad 3

My daughter will be 10 in August and potential thyroid cancer looms large in front of our faces.  She will one day have to face her own breast and uterine cancer risks.  I can only pray that there will be some groundbreaking research before its her time.

Thankfully – earlier this week I received an Email from my older sister moments after the Supreme Court handed down their UNANIMOUS decision, an excerpt of which is below.

Respondent Myriad Genetics, Inc. (Myriad), obtained several patents after discovering the precise location and sequence of the
BRCA1 and BRCA2 genes, mutations of which can dramatically increase the risk of breast and ovarian cancer. This knowledge allowed
Myriad to determine the genes’ typical nucleotide sequence, which, in
turn, enabled it to develop medical tests useful for detecting mutations in these genes in a particular patient to assess the patient’s
cancer risk. If valid, Myriad’s patents would give it the exclusive
right to isolate an individual’s BRCA1 and BRCA2 genes, and would
give Myriad the exclusive right to synthetically create BRCA cDNA.
Petitioners filed suit, seeking a declaration that Myriad’s patents are
invalid under 35 U. S. C. §101. As relevant here, the District Court
granted summary judgment to petitioners, concluding that Myriad’s
claims were invalid because they covered products of nature. The
Federal Circuit initially reversed, but on remand in light of Mayo
Collaborative Services v. Prometheus Laboratories, Inc., 566 U. S. ___,
the Circuit found both isolated DNA and cDNA patent eligible.

Held: A naturally occurring DNA segment is a product of nature and
not patent eligible merely because it has been isolated, but cDNA is
patent eligible because it is not naturally occurring. Pp. 10–18.

 

I follow a group on Facebook for Young “Previvors,”  a term used to indicate women dealing with genetic diagnosis that will greatly increase their risk of cancer.  They  give me hope with their strength, that one day when my own young “previvor” faces inevitable tough decisions, there will be young women around to support her.   This link was taken from their Facebook group.

http://www.washingtonpost.com/politics/supreme-court-rules-human-genes-may-not-be-patented/2013/06/13/9e5c55d2-d43d-11e2-a73e-826d299ff459_story.html?hpid=z1

myriad 2

I can sleep a little easier today, even as Paul Offit continues to swear that ALL vaccines are safe and effective, and we should NOT take our vitamins.

http://philadelphia.cbslocal.com/2013/06/15/philadelphia-physician-dont-take-your-vitamins/

And even as I get a little queasy about the protections issued to Monsanto and their genetically modified foods, I have to feel a little better.  This week – the Supreme Court got it right.

 

Mother, Wife, Teacher, Advocate

First I was a daughter.  A sometimes mousy, sometimes mouthy daughter.  I was respectful, but hated to be stepped on.  I wrote letters to the editor when I was annoyed.  I let people know how I felt.

Then I was a teenager.  I was full of opinions and was quite sure they were all right.  I was willing to debate for hours, or sometimes stay really really quiet – stewing in my personal assurance that I was right and they weren’t.

hand ove rmouth

I spent 4 years away at college.  Even though I didn’t want to – lol.  I will be forever grateful to my stepdad for his insistence that I drive, AND go away to college.  I am not sure I would have done either.  At college I learned to stand on my own two feet.  I met all sorts of people from all walks of life.

time-warp

By the time I hit my 20s life had educated me some.  I still held strong convictions, but I was able to accept that it was ok for others to have their own.  I gained the belief that as long as people were respectful – we could disagree.

In my 20s I met my husband.  A match that many thought was destined to fail.  And unlikely pair we compliment each other in every way.  He was my missing piece.

bethlehem 4

In my 20s I became a teacher.  A lifelong goal realized.  I worked harder than I ever had in my life to be the best I could be.  I recognized the magic of teaching.  I became addicted to the “spark” in their eye when they “get it.”  I came to see that my presence and my attitude were as important as my lessons.  I taught/teach my students, my children – to see the best in others, and to tolerate and embrace differences respectfully.

In my 20s Mom had cancer.  And I learned what it was like to be scared.  And I learned what really really matters in life.  And she fought, and she won.  I always appreciated my family, but I learned to appreciate them even more.

In my 20s I got married.  I got my Master’s Degree.  We bought a house.  We tore it apart.  We fixed it up again.  We got buried in debt.  We worked hard to get out.

Then – just about when I was ready to turn 30 – we had Meghan.

Disney 2012
Disney 2012

Mom said you do more changing in your 20s than in your teens.  She was right.  But as my 30s come to a close – I think they beat my 20s hands down.

In my 30s I learned to love my heart, outside of my body.  I learned that I would never be as important as that little human we created out of love.  I learned about family all over again.

In my 30s I learned to live without sleep.  I learned to endure tears and screeching and pain as my heart ached for my baby girl.  I learned that colic can last way longer than 3 months, and I learned to bounce and rock and sing and move for hours and hours on end.

In my 30s I learned how to balance two full time jobs, as a mother and a teacher.

In my 30s I learned what it was like to be truly terrified, as your baby went into the hospital, and into surgery over and over again.

In my 30s I became really close with God.  I learned that my relationship with Him transcends walls and buildings and people.  I learned gratitude, and I learned not to be shy about my faith.

In my 30s I learned that convictions can change.  And the things I was sure I was right about 5 or 10 or 15 years ago…well, maybe I wasn’t so right after all.

In my 30s I learned that close friends share bonds that go past time and distance.  I learned that even though I miss them, they are there when the going gets tough.  I learned that EMail, facebook, and the internet, when used properly – are some of the biggest blessings in life.

In my 30s I learned that you have the power to make changes in your life when situations, circumstances or people have you angry, sad, hurt, mad, or generally annoyed.  I learned doing something is way more rewarding that complaining.

dead-poets-society-1thoreau 3

In my 30s I learned if you believe in something enough, if you believe in someone enough, well even if you stand alone, you have to stand up for them.  And I learned that if you do – they will be your friend forever and ever.

In my 30s I learned what it was like to hear the words “You have a Rare Disease.”  I learned words like “Cowden’s Syndrome.”  I learned about “tumor suppressor genes,” and “genetic mutations.”  I learned about risks and tests that could take worry to a whole new level- if I let it.

rare-disease-day-feature

In my 30s I learned what it was like to hear the words “You HAD cancer.”

In my 30s I learned which body parts are “extra.”

In my 30s I learned – because they made me- what it was like to tell your 9 year old, “The doctors are pretty sure you will have cancer.”

From mousy to mouthy.

From school teacher to Mom.

From “victim” to advocate.

All these things make me who I am today.

So much has changed, and yet at my core, my heart – I am the same.

I feel.  Deeply and truly.  I care.  Often too much.  I laugh, and I love with my whole heart.  I know pain, and I know joy, and I have been intimate with both.  I know fear and bravery.  I know that I am not always right – but when I am… watch out.  Because little will stand in my way.

I know life is not fair.

Life's not fair

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I know God is Good.

This weekend I went to 2 wakes.  One for a woman who had lived a full life, and another for a young girl who sparsely got the chance.  There are too many wakes.  There are too many things that don’t make any sense.  Too many people gone way too soon.

I can wail and cry and wither away in my sadness.  I can let fear win – or I can stand strong.

Cowden’s Syndrome tries to win.  It can strike fear in my core with a headache, or the sighting of a lump, or the feel of a bump.  But I will not let it paralyze us.  I will not let it win.

So we have our team of doctors.  We have our visits scheduled.  We check it all.  Sometimes its tiresome.  Sometimes its discouraging.  But I would rather be out in front of the boulder – than under it.

This is really how I view the race against Cowden's Syndrome
This is really how I view the race against Cowden’s Syndrome

Through it all I know Meghan is watching.  My student – learning from how I react, how I fight, how I handle adversity.  My teacher – teaching me bravery, courage, candor, tenacity, and stamina.

always believe

I do the best I can to show her that its important to stand up for what you believe in.

I think she gets it.  I know I do.

The 30s have been a ride, and I still have a few more months to go.

In my 30s I learned what it was like to total a car.  I learned the frustration and injustice that often goes along with accidents that they would like to tell me I am powerless to fix.  I also learned that even though there are in fact some things I can not fix – there are others I can and will speak up about.

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If you happen to catch this before 10 PM – try channel 11 news “Help Me Howard.”  Working with the neighborhood to change a few things at my car accident site.

https://beatingcowdens.com/2013/06/04/howard-works-to-put-a-stop-sign-in-a-deadly-staten-island-intersection/

Advocacy.  Empowering.  Invigorating.  Much more fun than lying in wait.

We have to keep our energy up, standing up for what we belive in while we are “Beating Cowden’s!”

Saturday Adventures

I have this delusion in my head of what a Saturday should be. I think sometimes about getting up – not at the crack of dawn, but at a reasonable hour.  Getting a quick breakfast and jumping in the car to head… well wherever we want to go.  I think about spending Saturday as a family.  Worry free.  Relaxing together.  Sharing an adventure.

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Then there is reality.  It has a way of biting you in the behind when you aren’t paying attention. (Or when you are practicing active ignoring.)

Reality is that we have two working parents in this house.  That same reality that allows us to pay for the medical bills that creep up, and the fun stuff like vacations, is the same reality that means Saturday afternoon adventures are uncommon.  Well, almost unheard of anyway.

wholefoodsLogo1wegmansbrownlogo

costco

I have a grocery shopping routine – down almost to a science.  About every 3 weeks on Friday night, I go on the marathon.  I stop at Costco, and run home with what we need.  Then I head to Wegmans in Woodbridge, and Whole Foods in Millburn.  The whole journey is about 40 or so miles, and it takes about 6 hours from door to door.  Then there is the unpacking…

Why?

Well food sensitivities have kept Meghan  gluten, dairy, and soy free since she was about a year old.  She is also very sensitive to dyes, preservatives, nitrites, food coloring, and the like.  Her diet is pretty much pure and organic.

Local shopping is not as plentiful as that over the bridge, and prices are flat out  better there.  So, last night as we undid the (ridiculous amount of money) worth of groceries, and I put a soup in the crock pot for today, I was about to fall over from fatigue.

crockpot

The piles of laundry already covered the basement floor.  The beds would need to be stripped in the morning.  The bathroom was in dire need of a cleaning after my husband repaired a pipe that burst under the bathroom sink.  I thought about shutting down the alarm and just letting my body do the talking this morning.  I thought about it for about 3 minutes.

Then I took a flashlight into Meghan’s room.  I covered her eyes and looked at the sores on the right cheek of her sleeping face.  My heart sank.  I turned the alarm on.  I knew where we had to be in the morning.

In addition to having Cowden’s Syndrome, Meghan suffers with an immune deficiency.  Well, technically speaking probably more than one.  She is IgG subclass 1 deficient.  Her body doesn’t seem to remember how to fight infections.  She is also Mannose Binding Lectin deficient – a whole other element of the immune system – just absent.

Usually she holds her own.  She takes a HOST of vitamin and mineral supplements.  She eats that pure and largely organic diet I spoke about, and aside from seemingly chronic fatigue, she does OK most of the time.  She can’t be running around too long or too often.  She can not be over stressed.  These things wear her out, and then we have trouble.

When she was just 6 months old she was first hospitalized with an infection of Herpes Simplex 1 (fever blister)  on her right cheek.  It was odd the location it started.  It was in the middle of her face.  Before we knew what it was it had become cellultis, and we spent a week in the hospital.  The first 2 days were the scariest as the blister kept increasing in size.  Eventually my pediatrician at the time called in an infectious disease specialist (my pediatrician now,) who swiftly diagnosed the herpes simplex, and began IV acyclovir.  Within 24 hours things calmed down.  A week after we were admitted, we got to go home.

However she never, despite a few miserably failed attempts, got off the acyclovir.

acyclovir

She spent another week in the hospital at about 20 months, treating an aggressive outbreak.

At one point we slowly weaned her to 500 mg a day only to have her develop a very painful trigeminal neuralgia which the oral surgeon wisely explained was caused by the herpes virus taking up residence in the trigeminal nerve in her face.

trigeminal nerve

We promptly went back up to full dose, only to watch the pain fade away in a few days.

We have seen minor outbreaks through the years – usually nothing more than a red mark to indicate its time to do something.  We have slowly watched her dose of acyclovir be increased.  Currently at 80 pounds she was taking 1400mg a day.

We worry about the liver.  About whether there are long term effects.  But there really is not a choice.

That’s why as I shined the light on her face last night I knew this morning would involve a trip to the pediatrician.

We arrived bright and early and as he greeted us warmly he sized up her face in one brief glance.

“I see our old friend is trying to make an appearance.  Raise the acyclovir to 1600mg.  Move to 3 times a day to help it get through the system better.  Take a picture every morning, and call me if it doesn’t improve.  I will see you in 2 weeks.”

We stopped at CVS.  We texted a friend’s mom for a play date.  Then we got home at about 11:30 – drained.

Felix was working to bleach the bathroom – a job my asthma doesn’t allow.

There were human beds and dog beds to wash.  There were floors to clean, and dishes to do.  There was spaghetti sauce and some gluten free cookies to make.

funny-dirty-laundry

As I heard the sound of giggling girls from behind Meghan’s closed bedroom door – I took solace in the fact that at least she had an adventure today.  Even if it was in the house.

Cowden’s Syndrome and the immune system don’t seem linked on paper.  But, anecdotally I hear of issues from every Cowden’s patient I correspond with.  What goes on in our bodies to make it just so hard to put a virus to rest?

One child.  One diagnosed genetic disorder on the tumor suppressor gene.  A mannose binding lectin (a protein) that is also missing.  An IgG subclass deficiency.  Metabolic errors still being unearthed.

And I was looking for an adventure?

I should be happy and content with the Saturday cleaning.  It is the most rest we seem to get!

I believe…

I believe that there are lessons to be learned from every event in life- especially the ones that don’t turn out like we plan.

I believe in looking for the positives; when plans change without warning, when people disappoint us, when we are thrust onto paths we never wanted to travel and into circles we never knew existed.

I believe that our indoctrination into the world of Rare Diseases came with an invitation to sit back or step forward.  We choose to step forward.  I believe we will make a difference.

hope its in our genes

I believe in prayer, and God, and miracles, and angels – and I am not ashamed or embarrassed to say so.

I believe in a God that doesn’t plan for bad things to happen, and who cries with us when they do.  I believe that same God will give us the strength to get through the trials and tragedies and all our adversity – if only we ask.

god helps us handle

I believe in angels, and speak regularly of my cousin Meghan, our guardian angel.  But, I also believe there are armies of angels around us.  I am thinking especially today about the father and his 4-year-old daughter that were hit by a fire truck at the same intersection I had my accident in November.  Nothing short of angels pulled them both from the car – shaken and banged up, but very much alive.

crash

I believe in miracles-large and small.   I have witnessed at least one large one,  when my sister’s beautiful niece pulled through a very scary life threatening virus 2 years ago.  I believe that miracles happen every day – all around us.  But every day I witness miracles, as the flowers bud, and the birds fly, and the children grow.

life is like a bicycle

I believe that adversity can only define us if we let it.  Our struggles surely shape us, as we grow each day – but how we handle them affects us, and the people around us.  I believe that Cowden’s Syndrome – through my daughter’s diagnosis, saved my life.  I believe that PTEN mutations, and broken tumor suppressor genes are scary – but not “hide under the bed” scary.  They are more like “you can try that roller coaster you don’t like” scary.

A roller coaster ride!
A roller coaster ride!

I believe we are allowed to be frustrated and sad and angry and mad.  Every single one of us – sometimes.  I believe that life can be very, very, very hard.  Overwhelming at times.  But, I also believe in doing my best to channel that energy, and teaching my daughter to do the same.

life is not a measure of days

I believe in smiling more than frowning.  I tell Meghan that she will draw more people to her with a smile on her face.  She listens.

I believe that good things can come from unexpected change.  New friendships and old ones become more solid when tested.  People you never expected can go to bat for you – and look out for you.

I believe in surrounding myself with people who are “real.”  Who say what they mean, and mean what they say.  I believe in surrounding myself with people who have all types of beliefs, as long as they have a kind heart and are true to themselves.

I believe in speaking out about my own life, and my own experiences; whether they are medical, allergies, emotional, physical because keeping them inside doesn’t help a soul.

I believe writing helps me channel my own energy into a productive outlet.  I believe I will spend every day on this earth in some way thinking, addressing, or working through a medical issue for Meghan or I.  I believe – if I stay focused it will not consume me. (Although from time to time I may need some help!)

toxins

I believe that people who are only in this life to gossip and spread lies and false information are toxic.

I have made a pact to rid my life of toxins.  I believe with a lot of determination it can be done!

 

Moving Forward

May 16th for years has had a special place in my heart.

In 1985 my cousin Meghan was born.  I was in the 6th grade and giddy to get to know her.  I never could have known at the time that her life would be tragically cut short after a more than 4 year battle with leukemia.

"Angel Meghan" - 1987
“Angel Meghan” – 1987

Her feisty nature,  her smile, her spirit, and her strength have always been an inspiration to me, and it was an honor years later, to be able to name my daughter after the spirited young girl who became an angel at 6 and a half, on my 18th birthday.

My daughter carries so many of the characteristics that endeared my cousin to me.  She is the same kind of spirit, who lights up a room, and makes everyone smile by being around them.  She endures medical procedures sparsely batting an eye, and accepts the reality of her life with grace.

My Meghan - Spring 2004

Last year on May 16th I was at NYU hospital, just 10 weeks after my bilateral mastectomy, undergoing a complete hysterectomy.  I knew that day I had the prayers of my family, and the strength of my angel by my side.

I have a “thing” for dates.  I remember numbers.  Maybe this is how my love of math shows through.  I like answers, and things that are absolute, or make some sense.  Maybe my recognition of dates, and anniversaries is a way of marking time – or maybe its a way of celebrating.  These anniversaries that I remember – some sad, others bittersweet, have shaped me as a person.  They are all pieces of that every evolving puzzle.

I thought about the surgery this morning.  I thought about it being a full year since all my “girl parts” were officially gone.  I thought of the perils of the hysterectomy recovery and how in so many ways this was a tougher surgery for me.  Then I thought about my relief, and how much less of a cancer risk I am than I was a year ago.  And I got dressed with a smile.

happy hysterecomy

I thought about Angelina Jolie.  I thought about how happy I am for her – that she was able to make an empowered decision to get out in front of her breast cancer risk.  I thought about how happy I am that she has brought genetic testing into light.

But a few things have really bothered me.

PTEN mutations (Cowden’s Syndrome and the sister disorders) carry with them the same imminent breast cancer risk.  I myself had been tested for BRCA1  years before I ever knew of PTEN. I was negative.  The genetic counselor who tested me did not even have PTEN on her radar screen.  I know its rare – I do.  But I have to believe this is the opportune time to at least educate the medical professionals, if not the public, on the reality that there are other genetic mutations that carry imminent cancer risks.  I am sure there are more that I haven’t learned about yet.  Let’s use this opportunity to raise awareness not only of the “popular” genetic mutations, but of the others as well.  Had my daughter never been diagnosed, by the well educated geneticist – it is likely I would not be here to write this today.

I am also bothered by the haters.  You know the haters.  The “Monday morning quarterbacks.”

They have crept out in quantity and I have a few words for them too.

BUTT OUT!

butt out

If you don’t like the idea of a prophylactic mastectomy – then don’t have one.  Plain and simple.

If you don’t like the idea of a complete hysterectomy at 38 because the alternative was 4x a year – yes you read that right- 4x a year SURGICAL uterine biopsies, then don’t have one.

When you live with the Sword of Damocles hanging above your head every day, when you have to go about your business, and work, and raise a child, and pay bills, and shop and function with the feeling of impending doom that is sometimes hard to shake – when you have a diagnosis of a genetic mutation that is not going away no matter what you do.  Then, maybe then you and I can talk.

damocles

Until then,  wish Angelina a good long healthy life.  Look up “genetic mutations that cause cancer” or “The Global Genes Project” or “The National Association for Rare Disorders.”  Get a feel for what we go through every single day of our lives.

You probably wouldn’t know us if you passed us on the street.  We are some of the strongest and bravest and smartest people you will ever lay eyes on.  We stop and smell the roses.  We hug.  We smile.  We laugh.  We get how fleeting life is.

May 16th will always be a significant day for me.

But, moving forward -so will every day.  The first year is over.  Now on with the rest of our lives!

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In case you are interested…

http://idioms.thefreedictionary.com/a+sword+of+Damocles+hangs+over+head (Sword of Damocles)

http://globalgenes.org/ (Global Genes Project)

http://www.rarediseases.org/ (National Association of Rare Disorders)

https://www.facebook.com/ptenworld?fref=ts (Facebook Page for PTEN world)