The Family Jewels are not the Family Genes…

jewelsYou have most likely heard on the news that the Supreme Court is now hearing oral arguments on gene patenting.  Basically, the mega company, Myriad, is trying to patent the hereditary BRCA gene testing.  The identifying the location of this gene was discovered by Dr. Mary-Claire King, a researcher at University of California at Berkeley.  This has huge implications for people like me who need this testing.  If you would like to know more about this, in my opinion, the authority is the FORCE organization (Facing Our Risk of Cancer Empowered).  Please go to http://facingourrisk.wordpress.com for an easy to understand explanation of the impact of the potential patenting of this.

Like most people, I had actually not thought much about the genes in our family.  I was well aware of the strong history of alcoholism on both sides of our families and my husband and I planned to discuss this with our children (yeah, right, mom, thanks…I will not drink in college).  You can imagine how surprised I was when the issue of mutant genes became a real issue of concern when my son was just in elementary school.  He had completed several surgeries due to problems with allergies/sinuses.  One day we were all in the one day surgery center having his adenoids removed.  We began to worry a little because the surgery was taking much longer than usual.  The next thing we realized was that several medical personnel were coming over from the hospital (thankfully, it is attached to the surgery center) at a very fast pace.  The doctor soon came out and informed us that our sweet boy had had an episode of Malignant Hyperthermia and was now lying in a bed of ice trying to get his very high fever down and being transferred to Intensive Care.  So, you are thinking, “what the heck is Malignant Hyperthermia?”  Well, Wikipedia defines it as “a rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agentsuccinylcholine. In susceptible individuals, these drugs can induce a drastic and uncontrolled increase in skeletal muscleoxidative metabolism, which overwhelms the body’s capacity to supply oxygen, remove carbon dioxide, and regulate body temperature, eventually leading to circulatory collapse and death if not treated quickly.”  Over 80 genetic defects have been identified with the disorder and only one parent has to carry the gene to pass it on to the child.  I must admit, it was a pretty scary event.  Thankfully, another episode did not occur after surgery (sometimes it will). The only surgery my son has had since was his wisdom teeth, which was done in the hospital under very strict guidelines.

Of course, my next chapter in the family genes book was in 2006 when I was diagnosed with cancer.  As I may have mentioned before (maybe you can remember, I can’t remember what I ate yesterday), I did not fit the profile for hereditary ovarian cancer. My hero doctor encouraged me to take some time to recover from my extensive surgery since I had had serious complications.  We negotiated this and I later insisted on getting the blood test.  The issue of meeting the family history profile is also a financial one, since some insurance companies will not pay the several $1000s for the test without it.   Frankly, I decided we’d just worry about that later.  Funny how financial worries take a back seat when you are focusing on staying alive.  So, you know the rest of the story…I was indeed BRCA2 positive.  This meant that 1. I was at even higher risk for breast cancer and 2. My children may have inherited the screwed up gene.

So, next step was my daughter’s testing.  She was very focused on my recovery and very clear to tell the genetic counselor that she was ONLY doing this testing because I was so paranoid about it.  As you may remember from her earlier post, she was also found to be BRCA2 positive.  The implications of this for her put her in a position of making some very hard decisions about her health and life. (If you would like for me to write more about this, just let me know).

What does all this mean for the current patent case in front of the Supreme Court??   I absolutely hate having these mutant genes.  I sure wish they were fixable, but they are not.  But, THEY ARE MY FAMILY GENES!   Not a computer or iPod to be patented and make $$$.  (You will read in the FORCE blog that I referred to above that Myriad projects earnings of “2013 revenue will fall between $575 million and $585 million.)  I want women to have access to this testing and to not have to wait a long period (like my daughter and I did) for the results.  I want them to also have the benefit of genetic counseling to understand the impact on their life and what actions need to be taken to prolong it, not just a blood test and one page letter from a company.  That’s not much to ask, is it?

I’m closing today on a much happier note.  I want to wish my dear sister, Donna, a very Happy Birthday!!  She is the best sister in the world and ALWAYS there for me.  I love you, sis!!

I’ve been asked by several of you for an update on my last post.  Good news!!  I am feeling so much better!  My terrible headaches have not recurred (thank goodness).  I had a brain/sinus MRI due to my doctor’s concerns that something vascular may be happening.  The results of the scans were negative, whew!  We haven’t yet been able to determine why I am having the episodes of feeling like all the blood is gushing to my head (I look like I am having a major blush session), so we will continue to monitor this.  I missed 2 avastin treatments, but had one last week and am doing fine.  I am scheduled for my 3 month scan this month.  (I should have enough radiation in my body to not need to turn on any lights in the house). So, all is well and I thank you all from the bottom of my heart for caring about me.  It really touched my heart and soul.

And, saving the best news for the last….drum roll…I made it another year!!!!!  I have a birthday tomorrow!  In 2006, it was very iffy that I would be here 7 years later to celebrate.  The past 7 years have been filled with so much happiness with family and so many wonderful friends.  I feel so blessed and thankful! And, if you want to know what I want for my birthday, just check out my facebook page or email me.  I love you all…

Patsy

7 Comments

  1. David Pschirer

    Wonderful post and I agree it is sad that some companies are “mining” genes for information for the purpose of feeding their bottom line. I’m kind of a fan of government funded research that contains the caveat that the information gains must be shared and not patented for profit. Glad your feeling better and HAPPY BIRTHDAY!

    Like

  2. Mary Brown

    Happy Birthday!!! And many more…..

    Like

  3. Deborah

    What a delightful and heart-wrenching birthday post! Thanks for sharing.

    Here’s some links about Dr. Mary-Claire King:

    http://en.wikipedia.org/wiki/Mary-Claire_King

    http://www.gs.washington.edu/faculty/king.htm

    http://www.nobelweekdialogue.org/?participant=king

    She is now at University of Washington in Seattle where I was tested BRCA1 positive. I had OVCA and shortly after my diagnosis had the Myriad testing (thankfully my insurance company paid for it.) Then I attended a FORCE conference in Orlando and about a year later decided to have a prophylactic mastectomy because of my high risk for breast cancer. ALL OF THIS IS LIFE CHANGING! I appreciate your perspective on living with cancer. HAPPY BIRTHDAY and may there be many more.

    Teal Hugs to you, Deborah

    Like

  4. Shannon

    What a fantastic way to explain the importance of this situation. I thank you and I am SOOO glad you are now at your “7th birthday. I remember meeting you just after your first birthday! HUGS Shannon

    Like

  5. Stephen Davis

    Ray!!! Ruth

    Like

  6. Alicia

    Thank you as always for the helpful and useful information. I always feel smarter and well informed after talking with you and reading your blog. I agree with you on the Gen. testing. Happy Birthday!! 7 years is something to Celebrate!

    Like

  7. Lauren

    “I know this is long, but, hey,it’s been a year. When I reflect on this year I see many ups and downs. It has certainly not been a boring one, but life rarely is. I think the word that best describes my year is “clarity”. Going through this has helped me see very clearly what and who is important to me. As a result, it’s easy to decide how to spend my time. My goal is to get every bit of joy possible out of each day and I have felt much love doing this. Each morning, I wake up and ask myself “Are you with the people you love? Some days it’s looking forward to a phone call from my wonderful sister, seeing my friends at my prayer group, hanging out at home with Lucy, doing lunch with my work buddies, helping other cancer survivors, soI can truly say the answer is “YES!” ”

    Found this on your caringbridge post from March 2009. It’s 2013 and you are still living your life with that amazing clarity. Proud of you!

    Like

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

Two Sleevers

High Protein, Low Carb Recipes for Better Health

The Musings of a Cancer Research Advocate

It's All About the Evidence...

dionneweb

EVEN if...

helenfawkes

living with cancer

Emma's fight against MDS

My battle against the blood cancer MDS

ketorach

A Keto Lover in a Carb Driven World

PippiLaroo

Embracing the Thirties Life Crisis

Heart of a Country Home

Southern and Low Carb Recipes from a Country Kitchen

My Table of Three

Pull up a chair and grab a cup of coffee while we share some good recipes, laughs and more!

She Calls Me Hobbit

It's Low Carb, High Fat...not Lousy Cooking, Horrible Flavor. Hobbit and Keto Iron Chef have joined forces!

You Season With Love

Exploring a mostly whole foods, mostly allergen free diet

Health as a Human Right

Discussing a Broad Range of Health Topics

This Life I Live

scenes from one man's extraordinary, ordinary life

My Eyes Are Up Here

My experience with breast cancer

Sunrise Rounds

Through the Eyes of a Medical Oncologist

%d bloggers like this: