genetic mutation – beatingcowdens

Restoring some of my faith…

Published on June 15, 2013 by beatingcowdensLeave a comment

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

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.

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.

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

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.

Why worry?

Published on November 17, 2012November 17, 2012 by beatingcowdens1 Comment

That feeling. The one where the doors are about to close, and you have to make a decision. Are you going to fight your way out… or give in and let them trap you?

The pile of bills and papers on my desk increases by the moment. I am usually more on top of it than I have been these last few weeks. When I say bills, don’t misunderstand. We can pay our bills just fine. The ones I am referring to are the countless ones from doctors and hospitals who have billed incorrectly, or have not billed our insurance carrier at all. I am not the type to write the check until they have exhausted all options. I need to get to the bottom of that pile. Make those phone calls. Do their job for them.

qq1sgMessyDesk — Ok so it’s not quite that bad, but its getting there!

I could say I lack the time, and to some extent that would be true. They want to speak during business hours. I am available ideally, from about 8 PM until 2AM. But, I think I also to some extent lack motivation. It would be prudent to address this cycle of bills before our next round of appointments next month. Meghan has a few critical appointments during the winter break, and a few at the beginning of December. Not to mention the eye doctor that I still haven’t rescheduled. And the orthodontist – UGH, have to call the dental carrier too!

I am used to this to some extent. I have never known any different. It has been my whole life and Meghan’s too. Only during the last year did it get a name. But the reality is still very much the same. Constant appointments, hoping for no new tumor growth anywhere, followed by a cycle of bills that need to be rebilled and corrected. It always works out. But it does get a bit old.

This month it has been especially hard to focus. Hurricane Sandy rocked Staten Island so hard that you would have to be living under a rock to be unaffected. We are guiltily grateful that we were safe and blessed – but it is hard to get the images out of your mind, or the reality of the people that need help. We all do what we can. Certainly a time to “Pay it Forward” here.

Then there is my dears sweet Grandma. Grandma fell on the day of the hurricane, and spent the week recovering from head trauma in ICU. She is home now, improving daily. She is walking with a walker, weary of her time in bed, and anxious to move as much as she can. She is such a fighter. I am so incredibly impressed by her determination, but that is nothing new. At 92 she is blowing expectations out of the water. She is amazing, and inspirational.

And, so is my Pop. He loves Grandma so very much that it is almost breathtaking to watch. I have had the privilege of spending lots of time with them these last few weeks, and I am inspired.

65-years — Ok – December 30th it will be 67 years, but the concept is perfect!

I was lucky enough to spend the night on Thursday. After everyone was ready to sleep and I was settled in on the couch, Pop brough his chair over to Grandma and held her hand as she fell asleep. True love at its best.

Today, a VERY kind nurse. A stranger to us, but a friend of a dear friend came and took the stitches out of Grandma’s head. Like an angel sent to us, she lovingly removed the sutures, and later thanked me. She was awed by the love she witnessed between my grandparents. She would take no money. She just was so thrilled to help. She was our angel on earth today, saving us a potentially dangerous trip to Urgent Care.

Grandma doesn’t have Cowden’s Syndrome. As a matter of fact I am increasingly certain I am the first in my family to inherit the PTEN mutation that causes Cowden’s Syndrome. That genetic defect was handed over to my daughter as well. But Grandma doesn’t have it. I am sure. What she has is an intense, loving, fighting spirit, and a desire to be well. That – I did inherit!

The piles are larger than I like. They are everywhere, and I admit to feeling a bit stressed about the lack of control. But, I am smart enough to be aware of the blessings around me. To be thankful, and have a heart full of gratitude. For it is the little things that make all the difference.

Whose pink shirt is that?

Published on August 21, 2012August 21, 2012 by beatingcowdens2 Comments

survivor — I guess that’s my pink shirt?

It was probably in 1998 when we attended our first Susan G. Komen Race for the Cure in Central Park. Mom had spent 1997 undergoing 2 separate mastectomies, and enduring chemo. Just to top it all off she began a run on 5 years of Tamoxifen.

By September of 1998 she was back to her feisty self, raring to go – so we went. We have gone almost every year since then, save for maybe 2003 when I gave birth to Meghan in August.

A few years ago a dear friend, a new survivor joined us. So one very early Sunday a year, we pile into my Mom’s car and head to Central Park. We look through the stands that are set up. We “shop” for some free goodies, and we pay for some too. Then we head back to the car and drop it all off so we are ready to walk among 25,000 or so survivors and supporters.

We push Meghan in her chair, as the 5K would be way too much for her, but she won’t do without cheering Grandma on. She makes Grandma a banner to hang on her shirt – usually a picture of the two of them. It is a morning of (exhausting) celebration.

So it was Meghan. It is always Meghan it seems, who pointed out to me about a week after my diagnosis of DCIS, that I needed a pink shirt for the race this year. When I asked her why she said, “because you had breast cancer too.”

I thought about that for a few minutes. It was early in the game so the ramifications of what I had been through had not yet fully sunken in. I guess technically she was right. I had the pathology report in my hand. It clearly said DCIS. The breast surgeon clearly called it cancer, and reminded me that a few more months would have put me in a “fight for my life.”

But I had been to those races for many years. I had looked at the resolve in the faces of the survivors. The bald heads of the women still in treatment, and I had read the signs and tributes to those who had fought and lost. I had watched my own Mom endure chemo and years of tamoxifen. Surely I couldn’t put myself in the same class with these ladies?

I suffer I guess with a bit of “survivors guilt.” Some people might chuckle at the thought that my road has been easy, but of course everything is relative, and it is all about perspective.

I did commit to a prophylactic bilateral mastectomy to reduce my imminent cancer risk. That in and of itself is a pretty big deal. Finding out I already had cancer, rocked my world. Knowing that I had already done everything possible to prevent any spread or recurrence, gave me some much needed peace of mind. Angels, especially two I love (one here on earth, and one in heaven) named Meghan, had already kept me from being hurt by Breast Cancer.

Am I a survivor? You bet your ass. No genetic mutation, not PTEN, no Cowden’s Syndrome will take me, or my girl. I am blessed with the knowledge to screen, and the benefits of early detection.

Do I deserve to be in the same ranks of these breast cancer survivors? I am not so sure.

But, I have this pretty pink shirt. And these fake boobs. Maybe that in and of itself makes it OK.

No matter what I will consider it an honor to walk among some of the strongest women I will ever know.