Sunday, May 25, 2008

My mutation…easily explained.

A lovely anonymous poster on the FORCE Message Boards gave a fabulous description of my gene mutation. He/she put if very simply in laymen's terms.

My mutation is EX19DEL (aka c.8332-?_8488+?del)

All these weird question marks in the mutation name are a hallmark of the HGVS (Human Genome Variation Society) naming rules for big deletions / rearrangements.

All the lab typically knows is that a certain exon (or sometimes several of them) have been moved out of its proper place.

The easiest way to think about the exons is to imagine a novel published in a magazine, a chapter in every issue. If you have a stack of magazine and want to read the whole story, you read a chapter, skip a bunch of pages after it, pick the next issue, skip some pages before the next part of the story, and read on.

If it was a gene rather than a novel, then the in-between text you skip would be called an "intervening sequence", or intron. And the chapter you read would be called an exon.

Now suppose a chapter is missing. Maybe the whole magazine issue is lost, or maybe somebody ripped out a bunch of pages. Either way you don't have the whole story. Just how many "intron" pages are missing along with it wouldn't really matter for the reader.

But the HGVS rules demand that the lab reports the exact position of the lost part, to a letter, exon and intron alike. So a report would have to say something like


which means that the loss is from the "letter" 8332 in the story, to letter 8488, and they also miss an unknown number of "intron" letters before the "exon" chapter (that's minus-question mark), and an unknown number of letter after the exon (that's plus-question mark).

This kind of notation would typically draw a blank stare from a geneticist, of course. Are they, like, supposed to memorize where a letter 8332 is located in the story? So thankfully, the lab might explain the numeric mumbo-jumbo it in more transparent terms. Like, "it means that the exon number 19 is gone".

Mutations of this type are known as "large deletions" or "rearrangements". These "rearrangements" are not common. To make the matters worse, the traditional sequencing tests typically missed them. New, more sensitive tests have only become available recently.

Guess I was lucky. By the sounds of this, my mutuation wouldn't have been found a few years ago!

Shower for the Cure

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Thursday, May 22, 2008

Yet Another Referral

I got another referral today. Dr. Power’s office called me with a referral to Dr. George Vilos. He’s apparently a gynaecologist laparoscopy genius! Dr. Power is reluctant to do laparoscopy on me because of a large abdominal incision I had from liver surgery back in 1992, so he wanted me to see an expert to see if I'm a candidate for laparoscopy. I'd never heard of Dr. Vilos, but apparently, he’s one of Canada’s best! Dr. Power said I could speak to him about having a total hysterectomy as it can be done vaginally with laparoscopic assist. If I'm not a candidate for laparoscopy, I'll have to have my surgery abdominally.

Out of curiosity, I Googled him and he’s done a little with Da Vinci™ surgery. I don’t think he’s done a Da Vinci™ hysterectomy, but I’m going to ask him about it for sure!

One down side though…my appointment isn’t until August 25th…the wait seems to be getting longer.

Wednesday, May 21, 2008

My Appointment with Dr. Power

Yesterday's appointment with Dr. Power went really well. Dr. Power is a fabulous man. His bedside manner is amazing and he puts you right at ease. The staff was fabulous too. I asked him if he sees many BRCA+ women and he said Genetics sends most of their referrals to him.

We discussed surgery options, etc. To make sure I don’t have any cancer because that changes the surgery completely, he did a trans-vaginal ultrasound on me to make sure my ovaries were ok; which they seemed to be. He did the ultrasound himself and explained everything we were looking at. He also brought my husband into the room with us. Hubby sat at my head so he didn’t see the nitty-gritty of the whole procedure, but he did get to watch the monitor. I think it may have been a little traumatic for him and I don’t think the poor man will ever be the same. LOL

He also sent me for a CA-125 test just to be sure (even though it is 70% unreliable). I go back to see him on July 22 and then we’ll go from there.

In my nervousness, I did forget to ask him a few questions, so I’m going to email him. I am going to ask about having a complete hysterectomy to alleviate the risk of uterine and cervical cancer as well. I also want to know if I do decide to go with a mastectomy and reconstruction, if the two procedures can be done at the same time. It will be a longer surgery and recovery, but would be less actual surgeries.

Well, that’s about it. I'll update as I find things out.

At least the first step is over...

Sunday, May 18, 2008

In the Family

In October 2008, PBS POV (documentaries with a Point of View) will air Chicago filmmaker Joanna Rudnick's In the Family.

When Joanna tested positive for the "breast cancer gene" at age 27, she knew the information could save her life. She also knew that she would have to make heart-wrenching decisions about whether or not to remove her breasts and ovaries, or risk developing cancer. In the Family is a moving document of one young woman's struggles, and her efforts to reach out to other women while facing her deepest fears. Joanna Rudnick chronicles the lives of several women currently undergoing the process of genetic testing -- following them from their decision to seek testing, through the testing process, and in the aftermath when they are coming to terms with the information they receive. These stories of the first generation of women to live with the knowledge that they are predisposed to a life-threatening disease will teach us what it means to survive a diagnosis of high risk without being consumed or defined by it. They will help us to understand the psychological, legal, ethical, cultural and social complexities of genetic testing for a mutation, which affects the entire family, for which there is no cure, and wherein the only treatments currently available involve enormous quality-of-life sacrifices.

There was a sneak preview of the film this weekend at the FORCE conference in Tampa, FL. DVDs were sold at the event, so I am frantically trying to obtain a copy. The response to the film was outstanding!

Watch the trailer...and have your kleenex ready.

Sunday, May 11, 2008

Urgent - Stop Bill C-51

I am writing this because there is legislation pending in Parliament, known as Bill C-51, which could in fact make it illegal to sell, purchase or use natural health products. This means that the vitamins, supplements, homeopathics and herbal medicines that you rely on for optimal health, could no longer be available. As Canadians, our freedom to choose the healthcare of our choice is being threatened. We need to let our MPs, the Prime Minister and the Minister of Health know how we feel about this potential destruction of our legal right to choose.

The following is from NHPPA (Natural Health Products Protection Association)

Natural Health Products are Under Immediate Threat

Many Canadians rely upon natural health products for their health. These products are endangered and consumers need to act now to save them. Since 2004 when the Natural Health Product Regulations were introduced, natural health products have been increasingly threatened. The new Regulations were Health Canada’s response to consumer demands for the government to protect their access to natural health products. The Regulations have had the opposite effect.

To “legally” sell a health product the new Regulations impose a licensing requirement. The problem is that 60% of licence applications have failed. These have been the “easy” applications. Expectations are that 70-75% of applications will fail. For the NHP Community this means that 75% of NHPs we rely upon for our health will become illegal.

This creates the following scenario:

  • 75% of natural health products will become illegal;
  • Illegal products must be voluntarily removed or be subject to Health Canada enforcement;
  • Health Canada has publicly announced it is hiring more enforcement officers and is holding recruitment meetings at universities;
  • Bill C-51 gives Health Canada unprecedented enforcement tools to force natural health products off of the market.
  • Bill C-51 reads like a Police State Manual

There has never been a death in Canada caused by a natural health product. Considering that there are multiple deaths every year caused by common foods such as peanuts and shellfish, it is clear that natural health products are extremely safe. When you consider the health benefits of natural health products, including that many of us rely upon them for our very lives, it becomes clear that the real danger in regulating them is to “over-regulate” them off of the market.

Bill C-51 gives Health Canada unprecedented power to take natural health products away from us. Traditionally in Canada we have had the rule of law. This meant that it was not okay for the State to take our property without a warrant and without Court supervision to prevent arbitrariness and abuse. Now to “protect” us the State can seize the property of persons in the natural health product industry, including natural health practitioners, makers of natural health products, and retailers. This would be problematic even if there had to be a realistic safety concern for the seizure, but there does not have to be a safety concern. Under the new law the State can seize without a reason, without a warrant, without limits to what can be seized, without a time limitation, and without reporting the seizure to a Court. In some cases seized property can be forfeited to the State without Court approval. Owners will have to pay the costs of the seizure, transport and storage of seized things, even if it turns out that there was not a safety risk. The State still needs to get a search warrant if they are going to search someone’s home, but if it is not a home they do not need a warrant and can trespass on private property without any liability. Small family businesses are subject to the same maximum $5,000,000 fines as large corporations. Directors, officers and agents of a company can now be personally charged for the misdeeds of the company.

Even more troubling is that the State does not have to consider the health risk caused by their seizures. When the State seizes our natural health products, they are taking away our right to choose. That is, they are making our health decisions for us. We are then forced to use other treatments such as chemical pharmaceutical drugs which can be dangerous and ineffective. For those of us who only get relief from natural health products, the State forces us to suffer and in extreme circumstances, to die.

The seizure of Empowerplus is an example of where deaths resulted from the State seizing a natural health product that is now freely on the market. There is something wrong with “health” legislation which allows the State to seize health products without considering whether we need the products. There is something wrong with the State making personal health decisions for us. Health decisions are fundamental to our personal autonomy. There is something wrong with the State being able to seize our property without prior Court approval, without clearly defined reasons for the seizure, without time limit, and without Court supervision. There is something wrong with the State being able to trespass on our property without any recourse. Surely we can draft “health” protection legislation that does not read like a police state handbook.

Urgent Call to Action
Bill C-51 was introduced into the House of Commons on April 8, 2008. The Bill is not yet law, but will become law unless Canadians act quickly. It is essential that you let key Members of parliament know that:

  • You are opposed to the police state powers in Bill C-51;
  • You want them to vote against Bill C-51;
  • You want your access to natural health products protected.

Members of Parliament pay attention to personal efforts by voters you should:

  • Send a hand written letter to:
  • Phone your local Member of Parliament and the Prime Minister’s Office to voice your concerns.
Stephen Harper’s phone numbers are (613) 992-4211 and (403) 253-7990.
Tony Clement’s phone numbers are (613) 944-7740 and (705) 746-9053.

For your local MP’s number go to:

You can send your letters without postage to:

Name of person letter is to such as Stephen Harper
House of Commons
Ottawa, Ontario
K1A 0A6

Additional information is available at:

Call To Action - Your Freedom and Health is at Risk! Bill C-51

Missing Mom on Mother's Day

I miss you mom!
Today and everyday
you are always in my heart.

Love Shari

Friday, May 9, 2008

Gardening for the Cause

I had a fabulous birthday and was spoiled rotten by my husband, family and friends. The dinner hosted by my sister and all the gifts I received were absolutely wonderful! but I just had to point out one extra special gift.

Last year I created a memorial garden for my mom in our backyard and love to spend hours working in it. I received this lovely gardening set from the Papaya and Boogie Shoes....for those who don't know, they are my beautiful nieces, Maia and Ran. :)

This set is made by Midwest Quality Gloves and is available at Home Hardware. Both the gloves and apron are from the product line, Canadian Hope, and are embroidered with the yellow cancer ribbon. Midwest Quality Gloves donates $1.00 from the sale of each glove and apron set to the Canadian Cancer Society in support of cancer research.

The Gloves are a combination of jersey and cotton canvas with PVC dots on the palm for gripping power.

The Apron is a lightweight and comfortable cotton waist apron with deep front pockets to make it ideal for working in the garden.

Thank you girls! Your Auntie Shari loves you!!!

Now if only the weather would get a little nicer, I can get out in the garden and get at it!

Wednesday, May 7, 2008