Will update as soon after surgery as I can!
Sunday, June 8, 2014
eins, zwei, drei, vier, fünf, sechs, sieben, acht, neun, aus
Will update as soon after surgery as I can!
Thursday, April 17, 2014
hier kommt die Sonne
(it lays painful on the chest)
Wednesday, April 2, 2014
Cheating cancer one body part at a time...
Friday, March 28, 2014
Choices My Mother Never Had
Knowing you are BRCA+ is often viewed as either a blessing or a curse. Yet, many days it certainly feels like both to me. I guess that is how life is...grey and not black and white, right? Nothing is ever perfect. Life is hard and full of tough decisions.
When all is said and done, to me, the knowledge is a huge blessing in my eyes. Not knowing wouldn't keep me safe. Knowing gives me choices...choices my mother never had.

My and my mom circa 1966.
Monday, February 24, 2014
Quick Update and Some Answers...sort of...
Sunday, February 2, 2014
Wearing my mutation with pride!
Saturday, February 1, 2014
It's about time!!!!
Monday, November 4, 2013
BRCAnxiety...what they don't tell you about BRCA testing!
Sunday, October 6, 2013
What you are NOT told about implant reconstruction.
Saturday, October 5, 2013
Everything you ever wanted to know about BRCA2 but were afraid to ask! and my mutation…easily explained.
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 likec.8332-?_8488+?del
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.
Genotype: BRCA2:EX19del
Comments: aka BRCA2: c.8332-?_8488+?19
I have a deletion of Exon 19 on my BRCA2 gene, which means there's a tiny bit "missing" for lack of a better term. This throws off the genetic sequencing and the functionality of the gene.
Those of you who know me, know I'm a bit or a "researcher". I hunt and hunt until I find the information I'm looking for. In high school, I was also a bit of a wiz in biology, and especially genetics. This has helped me greatly trying to understand what being BRCA2 positive actually means. Below you will find some information that I hope will make sense...it certainly helped me understand everything. Some of it is pretty scientific, but after doing my researching, it's all fallen into place and I kind of understand it now.
Happy reading!!!
What is the BRCA2 gene?
The official name of this gene is “breast cancer 2, early onset.” BRCA2 is the gene's official symbol.
The BRCA2 gene belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressors, the protein produced from the BRCA2 gene helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.
The BRCA2 gene provides instructions for making a protein that is directly involved in the repair of damaged DNA. In the nucleus of many types of normal cells, the BRCA2 protein interacts with several other proteins, including the proteins produced from the RAD51 and PALB2 genes, to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair DNA, BRCA2 plays a role in maintaining the stability of a cell's genetic information.
Where is the BRCA2 gene located?The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3. More precisely, the BRCA2 gene is located from base pair 31,787,616 to base pair 31,871,804 on chromosome 13. The BRCA2 gene's location is indicated by the yellow arrow.

How are changes in the BRCA2 gene related to health conditions?breast cancer - increased risk from variations of the BRCA2 geneResearchers have identified more than 800 mutations in the BRCA2 gene, many of which are associated with an increased risk of breast cancer. Many BRCA2 mutations insert or delete a small number of DNA building blocks (nucleotides) in the gene. Most of these genetic changes disrupt protein production from one copy of the gene in each cell, resulting in an abnormally small, nonfunctional version of the BRCA2 protein. Researchers believe that the defective BRCA2 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.
other cancers - increased risk from variations of the BRCA2 gene
In addition to female breast cancer, mutations in one copy of the BRCA2 gene can lead to an increased risk of ovarian cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, male breast cancer, and an aggressive form of skin cancer called melanoma. Mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene.What is Chromosome 13?Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 13, one copy inherited from each parent, form one of the pairs. Chromosome 13 spans about 114 million base pairs (the building blocks of DNA) and represents between 3.5 percent and 4 percent of the total DNA in cells.
Exon(s) DefinitionCoding sequence of DNA present in mature messenger RNA; DNA initially transcribed to messenger RNA consists of coding sequences (exons) and non-coding sequences (introns or "junk DNA"). Introns are spliced out of the messenger RNA prior to translation, leaving only the exons to ultimately encode the amino acid product. Introns have no apparent function.
BRCA2 has 27 Exons. I am missing Exon 19, which is somewhere central on the gene. I wasn't too thrilled to learn that mutations in the central part of the gene have a higher risk of developing ovarian cancer.
Deletion Definition A mutation in which one or more (sequential) nucleotides is lost by the genome. If the number lost is not divisible by 3 and is in a coding region, the result is a frameshift mutation. A frameshift mutation is a genetic mutation where part of the genetic code is removed from a chromosome and lost forever. This affects the overall genetic sequence, and the result can range from insignificant to fatal. This is what I have.
How my Exon 19 deletion would look:

Wild-type in genetics refers to typical or normal and Mutant means differing from the Wild-type; a mutation.
Wednesday, October 2, 2013
Looks like it's time to dust off the old blog...
Saturday, September 10, 2011
Tattoo Session #3 September 9, 2011
Friday, July 29, 2011
A Pirate's Life for Me!
This blog post contains content only suitable for adults.
Left breast will be covered with a Kraken tentacle;
Right breast will have an open treasure chest with gold coins, the cup for the Fountain of Youth and Tia Dalma's necklace.
My next appointment is scheduled for August 19th...I can't wait!!!
Friday, July 22, 2011
It is not the destination so much as the journey, they say.
I'm not sure how much we will get done today; I'm hoping we can get most of the outline done. It all depends on how my pain threshold is today. I will post before and after photos after today's session once the bandages come off; hopefully tomorrow.
Tia Dalma: You know of Davy Jones? A man of the sea, a great sailor. Until he run afoul of that which vexes all men.
Will Turner: What vexes all men?
Tia Dalma: What indeed.
Gibbs: The sea?
Pintel: Sums?
Ragetti: The dichotomy of good and evil?
Jack Sparrow: A woman.
Tia Dalma: A woman. He fell in love.
Gibbs: No, no, I heard it was the sea he fell in love with.
Tia Dalma: [annoyed] Same story, different versions. And all are true. See, it was a woman as changing and harsh and untamable as the sea. Him never stopped loving her. But the pain it caused was to much to live with, but not enough to cause him to die.
Will Turner: What exactly did he put into the chest?
Tia Dalma: Him heart.
Ragetti: Literally or figuratively?
Pintel: He couldn't literally put his heart in a chest. Could he?
Tia Dalma: It was not worth feeling what small, fleeting joy life brings.
Friday, June 24, 2011
Dead Men Tell No Tales
I know, I know, I've been negligent in my blogging. I've really felt no need to update. Since my revision surgery things have been going along wonderfully! I still have a little pain and discomfort but nothing like before my revision.
I'm about to embark on the final stage of my long journey though; tattooing my reconstructed breasts. I am however putting a different twist on the usual reconstructive breast tattooing. To quote my plastic surgeon: "I know you won't do nipple tattoos, but I know you'll do something. Whatever it is, I want pictures!".
Well, she's right and she'll get her wish. I have a consultation with one of my favourite tattooists on July 9, 2011, for a Pirates of the Caribbean themed chest piece! WOO HOO
I'm a Disney nut and have been a fan of Pirates of the Caribbean since long before the Johnny Depp days (gasp, I know! but he has made Pirates even better!). I've loved POTC since I first visited Walt Disney World in March of 1972. I'm dubbing this tattoo, my "Dead Man's Chest". ARRGH!!!
I've been researching what Pirates "elements" I want to incorporate in my chest piece. I have 2 amazing POTC Artwork books that have been a fabulous help. So far I've come up with the Disney Pirates skull (goes without saying), the key to the Dead Man's Chest, a Kraken, an Incan coin, Tia Dalma's Pendant and of course, the Black Pearl. The tattoo will start at my collar bone. The collar bone will say "Dead Men Tell No Tales" in "Pieces of Eight" font, and the tattoos will go right down my chest/breasts to cover my mastectomy scars.
I'm not sure how/if he can incorporate everything I have envisioned, but I know he'll do his best to try! We'll work out all those details at my consultaton on the 9th. My first tattooing session is scheduled for July 22, 2011. I can't wait!
ARRRGH Mateys!
Monday, September 27, 2010
Excuse our appearance...we are currently under reconstruction...again!
I saw my plastic surgeon in July during the chaos and again today. I have never been happy with how my reconstruction healed, so I am having a revision surgery on December 10th...5 days after we get back from a fun-filled family vacation at Disney World.
The surgery should be about 2 hours in length; she will remove my current implants, perform a capsulectomy (removal of scar tissue) and insert higher profile "shorter" implants. This should make the implants sit little lower in my chest (they currently feel like they're on my shoulders!) and will be a bit wider at the base to help with the "flat" spots; this will all hopefully give me a bit more of a natural look. I have requested my guardian angel anesthesiologist too (explained here). Hopefully he's available that day.
I'll have a lot of preparation to get done in a VERY short period of time. The kitchen reno is scheduled to take place while I am away at Disney, so that gives me only 4 days to try unpack and organize my new kitchen (EEEEE...I'm getting my dream kitchen, I can't wait). I'm sure I won't get it all organized, but will at least try to get enough done so I can easily access a few things after surgery. I'm scheduled to work the Monday to Thursday before my surgery, but may need to take a half day off here and there to try get things ready at home.
Stay tuned....
Thursday, January 21, 2010
On a blogging hiatus
My unhappiness with my new foobs seems so inconsequential at this point. I really haven't thought about it much these days; I guess that proves what the real important things in life are and it doesn't really matter what my chest looks like...it's just not that important! Things may change as time passes, but for now, I can live with them...at least now they won't kill me.
I have lost both my parents in under 3 years to this fucking disease and at least for now, it can't catch me!
Good night dad...I love you!!! ♥ ♥ ♥

Tuesday, December 22, 2009
Surgery update...finally!
Surgery Day ~ November 25th, 2009
A couple of minutes later, they took me into the OR. As usual, I moved myself to the table and tried to get comfortable on a table that's only about 12 inches wide! They covered me with wonderful warm blankets. Dr. Currin rubbed my shoulders and said "You've been through a rough time today, I'm going to give you a treat. I'm going to give you the best buzz you've ever had." Whatever he gave me was WOW! Can I have some of whatever that was to go please? He put something into my IV and left me buzzed for a couple of minutes while the nurses hooked up the blood pressure cuff, heart monitors, etc. With my previous surgeries they had hooked me up wide awake and then just put me under. This time was definitely different!!! :-) They finally put the oxygen mask on me and told me to take couple of deep breaths. They injected the Propofol (a.k.a. Diprivan; think Michael Jackson, may he rest in peace) and out I went.
Shari
Saturday, December 12, 2009
Sorry; I've been neglecting my blogging responsibilities!
Tuesday, October 13, 2009
4th and Last Fill ~ better late than never!!!
I had my fourth and final fill on September 21. This fill was incredibly painful. There was 100cc more room in each expander; however Dr. Temple could get no more than 75cc in each side. My poor body would stretch no more. This suited me fine as the pain was excruciating. It was so bad; I had to take a couple of days off work afterwards. Thanks goodness the pain is all gone; just a little discomfort every now and then.
My exchange surgery is scheduled for November 25 at 12:30. Dr. Temple has ordered me 395cc implants; she thinks that size will look pretty. I can’t wait to have the exchange surgery done and have this all behind me.
Here are a few photos after the 4th fill.







