Check Your Genes

We had a great 2011 and we were excited to see what 2012 was going to bring!  We were busy with living life and enjoying some normalcy.  Mom and Dad took advantage of every opportunity to get together so they could spoil the grandkids.  Anisten had just turned 3, Bryson was getting ready to turn 4 and Holden was 18 months.  Rochelle was a little over three months pregnant with Kardyn Grace!  Life seemed really good and care free.  It seemed as if we had jumped over a lot of hurdles with Mom’s health but little did we know, our biggest, most challenging hurdle was within reach. 
Mom and Dad spent Christmas at our house.  We enjoyed a tour of the plaza lights in Kansas City while Mom and Dad were visiting.  

 

Rochelle had to work Christmas 2011 so we decided we were going to celebrate the Schmidt Christmas over New Year’s Eve in Gretna.  We decided to cook our very own prime rib that year and I must say it turned out quite well, that is, if you like rare/medium rare.  For those of you who know my Dad, this was too pink for his palate (stomach and eyes)!  His typical answer to the question, “How do you want your steak cooked” is “well done, no pink.”  He was a good sport and took part in the feast!  After supper we pulled out the New Year’s pre-packaged kit, poured the drinks and celebrated!  We knew we wouldn’t be able to stay until midnight therefore we celebrated early. 

Everything seemed perfect and we all had a great time!  If you have been following our story, you will notice by now the repeated theme of normalcy.  Mom wanted everybody to not worry about her so she was not open about her health concerns.  We later learned that she had noticed a small red area developing around her port. She also started having problems with lymphedema.  She was diligent in attending physical therapy and doing exercises at night in order to keep the lymphedema under control. 

We saw Mom and Dad a couple weeks later to celebrate Bryson's 4th birthday. I noticed compression sleeves on Mom's arms when she walked into our house.  I didn't say anything to Mom about it because I figured she would talk about it when she was ready.  She told me she started having swelling in both of her arms caused by removing her lymph nodes.  She did not have a problem with lymphedema after her first go around but unfortunately it really set in after her second bout with cancer and lymph node removal.  Based on Mom's smile in the picture below, you would never guess she was miserable or uncomfortable.  Mom truly was one of a kind!

She kept a watchful eye on it but then decided to ask her doctor about it.  She called the clinic in Omaha and they told her it was likely an infection therefore she was prescribed some antibiotics.  A couple of weeks went by and the antibiotics did not seem to be doing the trick.  She followed up with her doctor and she was prescribed another round of antibiotics.  Mom had a very good gut instinct and she had a feeling something was not right.   The antibiotics did not seem to be doing any good.  In fact, the redness had gotten much worse.  That is when she decided to make an appointment.

On February 2, 2012 Mom attended an appointment in hopes of getting to the bottom of the problem and resolution of the issue.   

According to the notes from her appointment, problem number 3 identified by her doctor was “bilateral lymphedema” and problem number 4 was “recent infection near her port with likely cellulitis.  The patient has been on antibiotics for some time.”

The office note dictated by her doctor is a great example of what an amazing, strong woman Mom was.  It also sheds light on the real situation and difficulties Mom was faced with.  

“Mrs. Schmidt is a lovely 55 year old woman who is seen in clinic today for follow up of her bilateral breast cancer.  She tells me, all in all, she is doing fairly well.  She has no significant concerns with regard to her malignancy but she does have concerns about her lymphedema.  It starts at her wrist and goes all the way up to her axilla but after she developed this infection around her port site, she developed significant lymphedema now in her right arm.  It is including her hand and all the way up to her shoulder; also some tenderness in her axilla and posterior axillary area. 

She tells me this infection in her port started in mid-December.  It was quite dramatic, red, hot, and very tender.  It did extend up into her supraclavicular area.  She has not been having any fevers. 

She continues to work in the office at her local hospital.  She has no difficulty with performing her functions, although she is frustrated with her edema.  She has compression garments, she does not like them.  She does not like wearing them, they are not very attractive and they are somewhat awkward for her to get on and off.  She has been doing physical therapy.  She likes her therapist and is interested in pursuing more physical therapy.” 

ASSESSMENT/PLAN- 1) bilateral breast cancer.  She appears to be doing fairly well.  I will see her back in 3 months for follow up.  2) probable infection, most likely cellulitis in the tissue surrounding her port. 3) lymphedema—I have written a prescription for physical therapy.  I have also given her information on lymphatic pump with the severity of her bilateral edema.  Clearly I can see it was affecting her abilities to function and it is obviously very uncomfortable for her. 

Mom’s port was removed on February 2, 2012 due to the apparent “cellulitis.” 

The following notes are an addendum to the February 2, 2012 office visit regarding genetic testing.

ADDENDUM- Review of her medical records dating back to 2002 does not show that she has ever had any evaluation for potential BRCA predisposition.  Given the fact she has had bilateral breast cancers both of which were triple negative, she harbors a measurable chance of having underlying BRCA mutation.  She has two young daughters, 28 and 30, and the potential for transmission of a heritable gene to them is measurable.  For this reason, we have made arrangements for her to meet with the genetics department to address this question.  

The antibiotics did not seem to be making a difference therefore, Mom followed up with her doctor in Omaha on February 9, 2012.  During the visit the doctor noted “dramatic changes” around the old port scar as well as inferior in her chest wall.  The doctor referred to the area as cellulitis, however, no drainage and/or infection was associated.  At that point, she was only 7 days into her antibiotics so the doctor recommended she continue/finish her two week prescription and if the redness had not subsided a punch biopsy of the skin was recommended.  According to her record a biopsy would be considered to “exclude any evidence of potential recurrence of her otherwise advanced invasive ductal carcinoma of the right breast.”

Mom and Dad came to Kansas City in February 2012 to attend the National Pheasants Forever and Hunting Expo.  Mom and I had previously talked about the infection around her port area but it seemed everything was under control.  Mom’s definition of “a little red area” is much different than my definition.  I asked her if I could see the redness and she showed me.  It was very red with a slight purple tinge.  The red area covered a lot more of her chest than I had imagined based on our conversation.  Mom portrayed the confidence and reassurance she always did in the past.  We were sitting in our living room and she informed me that she was going to follow up with her doctor the following Thursday for a biopsy.  At that moment I felt as though I was kicked in the stomach!  A biopsy?  In my mind a biopsy only meant one thing—cancer.  I was very concerned and was scared.  Mom was sitting in the leather chair in our living room as she was telling me this.  Once again, I had flashbacks of the time when we were on the side of my waterbed back in December 1993.  

I had a hard time enjoying the rest of the weekend.  I put on a happy face as Josh, Bryson, Holden and I attended a 1^st birthday party for one of our friends’ daughter.  I had a pit in the bottom of my stomach the entire weekend.  I felt so sad for Mom.  She had already been through so much and it seemed unfair she was having yet another health issue.   It was obvious Mom was in pain.  She was taking Tylenol quite often and she was trying to convince herself and us that the Tylenol was helping.  I felt so helpless.  I noticed by the end of the weekend Mom was walking almost in a hunchback position.  She told me it felt a little better to shrug her shoulders forward when walking as it relieved some of the burning.  It was so hard to see Mom and Dad leave on Sunday.   I remember hugging Mom and telling her everything would be okay with her upcoming biopsy.  I got in the car and cried the whole way home.   My instincts and pessimistic nature were telling me something was very wrong. 

The alarm went off on Thursday morning and I woke up with a sick stomach.  I sent a text to Mom and asked her to please text/call after her appointment.  Mom and Dad met with the doctor and he told her, “I’m going to prove to you one final time there is nothing wrong with you.  I am 99.9% sure it is cellulitis.”  The doctor provided a lot of reassurance and Mom and Dad left the appointment feeling good about the pending results of the biopsy.  She was to return a week later for the results. 

I remember talking to Mom on the phone the night before they left for Gretna to receive her results of the biopsy.  She shared a story with me about a good friend who was having some major health issues and Mom reminded me there is always somebody worse off than us.  She also said she felt good about the upcoming appointment but she did not want to be overly confident because it could potentially be something.  In these types of repeated situations, I think Mom learned to expect the worse and pray/hope for the best.  It was becoming increasingly difficult to stay positive before her appointments because history continued to repeat itself for Mom when it came to “routine follow up visits.”  We ended the conversation feeling good about the situation and upcoming appointment.

  

The next morning Mom and Dad went to the appointment expecting good news with regard to the results of the skin biopsy.  Up until that point, Mom really liked this particular doctor (breast surgeon not her oncologist).  She referred to him as “an angel in disguise.”  He was a kind, compassionate person and was always very accommodating.  He reassured them with almost 100% certainty that there was nothing wrong.  The dictated note is difficult to read because it contradicts what he told Mom and Dad the previous week during the biopsy.  It seems as if his ego was too big and he was unwilling to admit he was wrong about his initial impressions.

“…at which time we proceeded with punch biopsies of the so called erythematous, slightly punctate rash that I was concerned was potentially consistent with an unfortunate intradermal lymphatic recurrence.  She underwent the planned biopsies of the skin approximately 1 week ago and unfortunately the final pathology is consistent with our concerning clinical impression that she has intradermal lymphatic involvement of the skin of the chest wall with poorly differentiated adenocarcinoma consistent with a right sided breast primary that she had her initial mastectomy nearly 1 year ago.  She will need to undergo a metastatic workup to exclude the evidence of any disease elsewhere prior to any recommendations regarding aggressive therapy of her chest wall disease.  Hyperthermia has been used in the management of this type of condition in selected places, particularly at Washington University in St Louis and in Chicago at Northwestern University.”

Arrangements were made for Mom to get a comprehensive work up “within the next 48 hours and hopefully we will be able to embark on a course of definitive therapy.  The patient is very, very anxious and lives 5 hours from Omaha.”

In other words, the breast cancer spread to Mom’s skin.  Mom believed that the pocket of fluid that was present following her mastectomy had cancer cells in it.  It makes sense that when it “popped” the cancer started working on her skin and surrounding areas.  Not to mention, the fact she had lymph node involvement did not help the situation.  

I had a bad feeling something was wrong but I was really trying to think positive.  Waiting for the phone to ring is something I have not been good at.  I knew with each passing minute without a call, something was wrong.  I left work around 3:20 and I still had not heard from Mom and Dad.  I am very impatient so I called my sister to see if she heard from them.  Mom previously told me they were not going to stop at Rochelle and Scott’s house because they needed to get home.  As I was talking to Rochelle, she interrupted me to let me know Mom and Dad were at the front door.  At that point, time stood still.  Mom got on the phone and I could tell she had been crying.  She said, “I didn’t get the news I was hoping for.”  Mom proceeded to tell me the results of the biopsy and her appointment schedule the following day.  Mom said she might have to go to Chicago for treatment and she expressed her concerns with this.  

I was so angry at the world and at God.  I felt as if we were being treated so unfair and I could not understand why things were happening AGAIN.  My poor mother never got good news when she went to the doctor.  How is it possible she was being diagnosed with cancer for a third time?  I made some negative comments (also known as a “Schmidt fit”) and Mom politely listened.  As soon as I was done venting she reminded me to just pray.  She was not happy with the news either but turning our back on God was not an option.  I was humbled in that moment.  Despite Mom’s fears, she continued to find the positives rather than focusing on the very negative situation at hand.  

The following day, Mom underwent several tests.  We had to wait several days to obtain the results of the bone scan and other tests to determine how advanced the cancer was.  We prayed so hard that her organs were clear as well as her bones.  Thankfully the comprehensive work up showed that the cancer was confined to the skin in her chest.  It had not metastasized to her organs.  Mom was also given great news that she did not have to travel to Chicago for treatment.  You have to learn to take the good with the bad.  We were elated that the cancer had not spread, however, Mom’s oncologist informed her that she would never be cured of this cancer and she would have to be on a maintenance program for the rest of her life.  She was prescribed oral chemo and thankfully the redness eventually cleared up. Her oncologist encouraged Mom by telling her that some of her patients have been on oral chemo medications for years and they have done quite well.  The side effects of the oral chemo were fatigue and hair thinning (rather than complete loss).  

A few weeks after Mom’s diagnosis, Dad had a minor health issue which required surgery and an inpatient stay.  I would call and check on both Mom and Dad several times a day.  At one point, Mom told me she was “terrified for Dad” and she would “shoulder any illness” for her family.  Mom was so used to being the patient that it was difficult for her to be on the other side of a health issue.  By no means was Dad terminal but it really got me to thinking about what I would do without one of my parents.  I didn’t allow my brain to go there very long because there was no point in focusing on the “what ifs.”  I have to admit it was a very difficult thought and I frankly couldn’t even imagine that being the case.  Thankfully Dad healed up quickly and life went on. 

In early May we spent the weekend in Gretna with my family.  I could tell something was on Mom’s mind because she had a look in her eyes.  As we were visiting in the living room, Mom got up and went out to the truck.  She walked back in with a yellow manila folder and pulled out some papers.  It was at that point Mom informed us that she had the results of her genetic test.  I did not know what she was talking about.  Mom informed us that her doctor recommended genetic testing given her history with breast cancer.  On April 30, 2012 Mom learned she tested positive for the breast cancer gene, BRCA2.  Mom was crying when she gave us the results of her test.  She apologized over and over again because there a 50% chance that Rochelle and I would test positive as well.  For once, it was our turn to reassure Mom.  We told her there was no need to apologize or feel guilty.  It is a part of her and if it was a part of us, we would deal with it.  Knowledge is power and we were thankful to have this body of information to share with our doctors.  The genetic counselor recommended Rochelle and I get tested.  It was also recommended that Mom’s brothers get tested.  It is unclear whether the genetic mutation came from Grandma Nettie or from Grandpa Don Ogorzolka.  Both of my grandparents passed away so there would be no way to determine which side it came from.

Below is information on BRCA 1 and BRCA2 and hereditary cancers taken from a printout provided to Mom from the University of Nebraska Genetics Clinic:

1)Hereditary breast and ovarian cancer is caused by a dominant gene that is inherited generation after generation; 2) Many cancer genes are thought to be tumor suppressor genes.  The role of a tumor suppressor gene is to control the growth of cells in the body.  Without these genes, cells grow out of control into tumors which can eventually lead to cancer; 3) A person who carries an altered gene has a 50% chance to pass that gene to each of his/her children; 4) There are currently two genes (BRCA1 and BRCA2) that are thought to be responsible for the majority of families with inherited breast cancer.  There are other genes that play a smaller role in hereditary breast cancer and probably additional genes that have not been discovered and therefore cannot be tested; 5) The cost to screen the entire length of BRCA1 and BRCA2 genes in an initial person is $3,340.00.  If you carry and alteration within a gene the other family members could also be tested to see if they carry the same gene for $475.00; 6) A positive result can also potentially put families at risk for discrimination by insurance companies, employers or society; 7) Women who carry BRCA2 alteration have an increased risk to develop breast cancer estimated to be as high as 84%, and to have an increased risk to develop ovarian cancer thought to be as high as 27% by age 70; 8) Men who carry the BRCA2 alteration are also at increased risk to develop breast cancer (8%) and prostate cancer (20%); 9) Pancreatic cancer has also been reported in families with a BRCA2 mutation with a 7% risk by age 80; 10) It is recommended that women with gene changes in BRCA2 undergo monthly self exams and biannual clinical breast exams.  Annual mammogram and breast MRI beginning at age 25.  In addition, it has been shown that tamoxifen reduced the risk of breast cancer in women at increased risk by half.  Some women may also consider prophylactic mastectomy; 11) To reduce the risk of ovarian cancer, women with mutations in BRCA1 and BRCA2 may take oral contraceptives, which have been associated with a 60% reduction in risk for ovarian cancer in this population.  Prophylactic oophorectomy (removal of fallopian tubes) is thought to reduce the risk of ovarian cancer. 

This was a very trying time in my life.  It was hard to understand why Mom was diagnosed a third time with cancer.  One time is bad enough but the repeated diagnoses were very difficult to comprehend.  I harbored a lot of anger during this phase.  I was angry at the world.  I wanted our seemingly carefree lives back.  More importantly, I wanted Mom to live her life without the fear of cancer, tests, doctors and the thought of one day not being able to win the fight.  

Below are the lyrics and a link to “Walk By Faith” by Jeremy Camp.  Once Mom started down the path of treatment I started to see the light.  Initially I was experiencing some grieving for Mom—I felt as if she had been cheated out of some of the best years of her life.  She had already been through enough and it just did not seem fair.  This song talks about having faith even when we cannot see.  I admit, I did not walk by faith during these times, however, I never turned my back on God.  I did not praise Him and thank Him like I should have.  I failed to recognize that this was all part of his master plan and I needed to trust Him.  Little did I know, God was preparing our family to “walk by faith” in the upcoming months.

 

Would I believe you when you say
Your hand will guide my every way
Will I receive the words You say
Every moment of every day

Well I will walk by faith
Even when I cannot see
Well because this broken road
Prepares Your will for me

Help me to win my endless fears
You've been so faithful for all my years
With the one breath You make me new
Your grace covers all I do

Well I'm broken- but I still see Your face
Well You've spoken- pouring Your words of grace

https://www.youtube.com/watch?v=r9WXUlERHKc