It's Been a Year...

 

 

I remember that morning in late January...waking up early...saying a prayer as I awoke and keeping a prayer in my heart as we drove to the hospital.  One foot in front of the other.  I almost couldn't believe that I was doing this.  But I knew that this is what I wanted to do.  I remember the waiting room, and seeing the Time Magazine with Angelina Jolie's picture on the front sitting on the table next to me.  I remember visiting Dr. Reading and then Dr. Ferguson as I sat in my gown and cute hair net.  Dr. Ferguson making the marks on my chest...

Now a year later, the scary "what if", "how do I" and "who do I trust" questions are behind me and I am so grateful for kind strangers, now friends, who guided me and answered my questions.  Grateful for wonderful family and friends who watched my children, swept my floors and served me.  Grateful for wonderful, skilled physicians.  Grateful for a patient husband and family.

Today I swam laps and I felt great!  I remember wondering what it would feel like to be back to normal... it feels GREAT!

abc4 News Interview with Kim Fischer

Thank you to abc4 News reporter, Kim Fischer, and cameraman AJ
for sharing the BRCA story!

BRCA2 Interviews

Tune in to abc4 News on Monday, November 18th at 10:00pm

 for a segment on Women's Health and my BRCA2 Journey.  My surgeons, Dr. Reading and Dr. Ferguson accompanied me to the abc4 studio to interview with reporter, Kim Fischer.  I am eager to see the segment to see how it turned out! 

 

Tues, November 19th on the 4:00 News,

Dr. Reading and I will be interview live by Kim Fischer as a follow-up segment.  I hope sharing my story can help someone else...and I am hopeful that anyone who is seeking good surgeons will discover Dr. Reading and Dr. Ferguson.  They are amazing!

 

(If you miss the segments, you can sometimes find them on abc4.com after they air.)

Amazing Surgeons

I feel so blessed to have such wonderful surgeons who helped me with my mastectomy and reconstruction.  Dr. Ferguson and Dr. Reading were great to come on air with me and share information on "Good Things Utah"

What is the BRCA2 gene?

Reviewed August 2007 http://www.ghr.nlm.nih.gov/gene/BRCA2

What is the official name of 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 is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the BRCA2 gene?

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.
Researchers suspect that the BRCA2 protein may have additional functions within cells. For example, the protein may help regulate cytokinesis, which is the step in cell division when the fluid surrounding the nucleus (the cytoplasm) divides to form two separate cells. Researchers are investigating the protein's other potential activities.

Does the BRCA2 gene share characteristics with other genes?

The BRCA2 gene belongs to a family of genes called FANC (Fanconi anemia, complementation groups).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the BRCA2 gene related to health conditions?

breast cancer - increased risk from variations of the BRCA2 gene

Researchers 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 disorders - caused by mutations in the BRCA2 gene

A condition known as Fanconi anemia type D1 (FA-D1) results when two faulty copies of the BRCA2 gene are present in each cell. These mutations reduce the amount of the BRCA2 protein to very low levels. Without enough of this protein, breaks in DNA are not repaired normally and genetic damage can accumulate. As a result, people with Fanconi anemia are prone to several types of cancer, including cancers of blood-forming tissue (leukemias). They are also at an increased risk of developing solid tumors, particularly of the head, neck, skin, and reproductive organs. Additionally, people with Fanconi anemia experience bone marrow suppression, which causes an abnormal reduction in the number of red blood cells, white blood cells, and blood platelets made by the bone marrow. The reduced production of red blood cells causes the anemia characteristic of this disorder.

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.

Genetics Home Reference provides information about Fanconi anemia, which is also associated with changes in the BRCA2 gene.

Where is the BRCA2 gene located?

Cytogenetic Location: 13q12.3
Molecular Location on chromosome 13: base pairs 32,889,616 to 32,973,808

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 32,889,616 to base pair 32,973,808 on chromosome 13.

Here is a diagram I found:



Figure 2. The roles of BRCA1 and BRCA2 in DNA repair. (a) This model suggests that a macromolecular complex consisting of BRCA1, BRCA2, BARD1 and Rad51 functions to repair damaged DNA. Complex formation is preceded by phosphorylation of BRCA1 by the kinase ATM. In response to DNA damage, the complex relocates to chromosomal regions undergoing DNA replication marked by proliferating cell nuclear antigen (PCNA). (b) Loss of BRCA1 and/or BRCA2 function (indicated by dotted outlines) leads to inability to repair damaged DNA. When damage occurs to critical checkpoint genes, such as p53 (dotted outline), checkpoints such as p21 cannot be activated and cells proliferate. Modified figure reproduced, with permission from Elsevier Science, from Ref. 11 [Welcsh, P.L, Owens, K.N. and King, M.C. (2000) Insights into the functions of BRCA1 and BRCA2. Trends in Genetics 16, 69-74, PubMed] (fig002mgb).

Just Checking...

I made an appointment with the Huntsman Cancer Institute at IMC to speak with Dr. Nibley with the Utah Cancer Specialist Group.  I just wanted to see what else I might be able to do to reduce my risk of any cancers.  Should I have a yearly body scan to detect any cancers that might show up in my brain or lungs (like my mother had this last time)?  What are the symptoms of a brain tumor anyway?  I wanted to double check that indeed I didn't need any breast imaging, since I have an implant in there now.  What did they think about me taking an estrogen supplement? 

William E. Nibley, M.D.

Dr. Nibley earned his medical degree in 1991 from the George Washington University School of Medicine. He completed an internship and residency in Internal Medicine followed by a fellowship in Hematology/Oncology at the University of Utah School of Medicine. He is a member of the clinical faculty in the Division of Hematology/Oncology at the University of Utah. Dr. Nibley is board certified in Internal Medicine and Medical Oncology and board eligible in Hematology.
I went back and this practice has a mid-level provider speak with you first to find out your history and ask basic questions so they can brief the physician before meeting with you.  Anne Marceau, NP, came in to meet with me.  She was so nice and listened to my concerns. 

Anne Marceau, NP

Ms. Marceau, NP, earned a bachelor's degree in Nursing in 1988 from Fairfield University in Connecticut. She earned a master's degree in Nursing and a Nurse Practitioner Certification from Massachusetts General Hospital Institute for Health Professionals in 1997. Most of her nursing career has been in Oncology and Bone Marrow Transplant. She worked with the Utah Blood and Marrow Transplant Program at University of Utah Health Sciences Center, Primary Children's Medical Center and LDS Hospital. She is board certified as an Adult Nurse Practitioner.
After we spoke, she briefed Dr. Nibley and he came in.

Basically, they both said:
-I do not need any breast imaging since I have no breast tissue.  I should still do a self-breast exam each month.  This will most likely be the way that a tumor would be detected if one grows in the breast tissue that remains.

-They didn't think it would be beneficial to have a body scan or chest scan for lung cancer or brain scan for brain cancer.  They said that if I had the scan one day, then a brain tumor could form right after that.   Once they form they are quickly detected within 2 weeks because it's obvious that something is wrong.  Symptoms possibly include a headache that comes and goes, stroke-like symptoms, nausea and vomiting, disturbed visual patterns and seizures.  Anne said you might do abnormal acts like put your cell phone in the toaster.  And the treatment is the same for most brain tumors... you need surgery.  As for lung cancer, outside of smoking a leading cause is from radon gas.  He suggested that I have my home tested for radon just because it's a good idea to do so and it would reduce that risk factor.

-Dr. Nibley asked me how my body is reacting to not producing estrogen from my ovaries that were removed.  I said that I didn't notice BIG disruptions in my life.  I do get warm and toasty at times, and sometimes I feel a heaviness when I am stressed.  I guess I'd have to ask Dan if my behavior is altered and if I am more impatient.  Dr. Nibley suggested that estrogen does feed cancers, and the benefit of a low-dose estrogen would be for heart health, but perhaps on the conservative side, I should not take an estrogen supplement. I can monitor my heart health through other means.  Estrogen also helps with Bone Density.  When women go through menopause their bone density starts to decline.  So, since I am getting about a 10 year jump start on my bone density decline, I should be certain to take Calcium and Vit D supplements.  Anne mentioned that most pills don't have enough Calcium in just one pill, so I should be aware that I need 1500mg of Vitamin C each day and 800 units of Vit D (which helps in the calcium's absorption in the body).  That was good to note, since I was only taking one pill each day and I actually need to take 3 of the pill that I am currently taking.  (I should research to see what other calcium options are available.)  He also said that I need to do weight bearing exercise 3 times a week to keep my bones strong and healthy.

-Dr. Nibley handed me a print-out of the NCCN Guidelines for  Hereditary Breast and/or Ovarian Cancer Syndrome Version 4.2013.  He told me that he understands that I am a little "anxious" about reducing my risk of breast cancer, especially since I recently underwent the preventative surgeries and my mother passed recently.  He said that according to the guidelines, I really have done everything that I can.  I now have a risk that is that of the normal population or less even.  ( I did just notice a footnote that says "Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.  Quickly checking into that a bit more.  "...data suggest that FA patients with biallelic mutations in BRCA2 are at markedly high risk of acute leukemia during the first 5 years of life. Presence of biallelic BRCA2 mutations clearly mandates more intensive surveillance of the marrow and possibly “prophylactic” hematopoietic stem cell (HSC) transplantation prior to the development of myelodysplasia and AML. Further, FA patients who are compound heterozygotes for BRCA2 mutations are at high risk of solid tumors.^17,18 Of the 14 patients with biallelic BRCA2 mutations in the IFAR database, 5 died of early onset brain tumors, primarily medulloblastomas,¹⁷ and 3 developed Wilms tumors." http://bloodjournal.hematologylibrary.org/content/103/8/3226.full.html )

-The NCCN Guidelines state that I have a possibly higher risk for pancreatic cancer, but there isn't screening for that, and a higher risk for melanoma.  He suggested that I get a yearly check-up from a dermatologist.

Other than that, Dr. Nibley said that I really have done all the preventative measures that I need to.  He was a very nice doctor and listened and explained everything well.  I appreciate Anne and Dr. Nibley's time and care.

I wish a yearly screening could tell me that I'll be okay...

What things can I do that we talked about?
-Regular self-breast exams to detect breast cancer
-Weight bearing exercise 3 times or more a week for bone health
-Take 1500 mg Vit C and 800units Vit D daily
-Test home for radon gas

Life Insurance isn't covered by GINA

Sooooo.... if I had thought about this little kink in the road, I would have looked into a new life insurance policy BEFORE I started taking any steps in finding out about my BRCA2 mutation and BEFORE I made any doctor visits about reducing my risk through surgeries.

Because I didn't, now I really AM being discriminated against by life insurance companies...
and there is NO LAW TO PROTECT ME AGAINST THIS!

I vented my frustrations on the  www.facingourrisk.org (FORCE) message boards and I received a few replies that GINA only applies to Health Insurance.

This is pretty frustrating.  Even though I went through these surgeries to reduce my risk to be the same or better than the general population, I am only able to get 3rd tier coverage as a "healthy individual who is a non-smoker" and cannot qualify for the BEST rate available.

This is a bummer!

Learn from my mistake.


Q. Does GINA protect me when I buy life insurance or long-term care insurance?
A. GINA health insurance protections currently do not apply to the life insurance market or the long-term care insurance market. If you buy these types of coverage on your own, federal law does not protect you. However, some state laws may apply to these types of coverage. Check with your state insurance department for more information.
(http://www.dnapolicy.org/gina/faqs.html#insurance15)