Genetics Testing

At my oncology appointment on Monday, my doctor had asked me if I was ready to meet with a genetics counselor.  When I was first diagnosed, she had mentioned this to me but I never really researched it. I qualified for genetics testing because the type of cancer that I have (diffuse gastric cancer with signet ring cells) is rare and because of my age.  So on Tuesday I got a call from the genetics counselor I would be working with.  She asked me about my family history and I had to name off not only my siblings but my parents siblings.  I had to provide age and any history of cancer.

I felt dumb because I could not remember how many siblings my parents each have.  Unfortunately, I do not know most of my family.  My dads parents are deceased but my mothers are still alive.  I have visited Mexico 3 times to meet my family (at ages 10, 15, and 17).  My dad has a couple of brothers in the Los Angeles area and luckily I know some of my cousins from there.  Other than that, I don't know my family.  Some of my other siblings do visit Mexico more frequently and know my family better than I do.  I'm jealous of everyone around me.  I feel like I missed out on getting to know my grandparents. I wish I had that relationship with my extended family that everyone around me seems to have.  And figuring out my medical family history has also been tough.  In Mexico, access to healthcare is limited and my family is not rich.  And when someone dies, there is no autopsy.  You just kinda bury them in a couple of days.

After we went over my family history, we made an appointment for me to come in and submit a blood sample.  She suggested I bring any family I could so I chose to come in on Thursday (3/22/12) so that my sister could take the day off and come with me.

Thursday came and we headed into San Francisco for my appointment.  I just remember sitting in the car, staring out the window, thinking about my life.  Genetics testing?  Why?  Why are we making a big deal out of this?  I'm no one.  I constantly struggle with the emotions that come running through my head about the value of my life and why it's worth saving.  We arrived at Kaiser and I registered for my appointment.  Shortly afterwards, the genetics counselor and the genetics doctor came out and brought us into an office.  We sat at a round table and again, we went over a little bit on my family history.  My sister was able to elaborate some more about family members who possibly had cancer.  Because they were my "mothers dads sisters daughters daughter," it made no significant link to my cancer.  We next got a little lesson in genetics.  Basically, my cancer is rare.  We are not sure why I got it and why I got it so young.  The importance of this genetic testing is to see if I have a mutation in my genes that caused this cancer.  If I do have a mutation in the CDH1 gene and we find that this is hereditary, it can help my family.  My siblings can then get tested also to see if they carry the gene.  If they do, they will be told the probability of them developing gastric cancer, which can often be anywhere from a 60-80% chance.  With that said, some family members may choose to have their stomach removed, which sounds drastic but in comparison to cancer, it doesn't sound that bad.  You can have periodic endoscopies done with biopsies but the thing about it is that precancerous tissue might not be biopsied.  You just don't know if the tissue being sampled will have cancer cells.  My stomach, apparently has cancer everywhere, hence the stage IV.

One website that has been a great source of information for me is www.nostomachforcancer.org.  Rather than trying to give you a genetics lesson, here is what the site has to say:

GENETICS

The CDH1 gene, located on chromosome 16, normally encodes for a protein called E-cadherin. The normal function of E-cadherin is to allow cells and tissues to adhere to one another. ⁴

The structure of the E-cadherin protein chain bends and turns. The normal function of E-cadherin is to allow cells and tissues to adhere to one another in a normal fashion.

When there is a mutation in the CDH1 gene, the function of the E-cadherin protein is disrupted, and cancer often results.^3,4 The exact mechanism by which this mutation ultimately causes gastric cancer is not entirely known. ⁴

Inheritance of the CDH1 gene mutation follows an autosomal dominant pattern, meaning that offspring of mutation carriers have a 50% chance of inheriting the mutant gene.^3,4 It is estimated that three out of every four CDH1 gene mutation carriers will go on to develop gastric cancer,³ with an average age at diagnosis of 38.^5,6

It is important to note, however, that not all HDGC families have a mutation in the CDH1 gene. Other genes that may lead to HDGC are not known at this time.

The results of my genetic testing will come back in about 3-6 weeks.  They may find that this is hereditary, they may not.  But it's worth a shot to check.  Anything to help my family out.  I would't want them to go through this.  The last part of my appointment was spent down in the lab, where they collected my blood to send off to the laboratory who does the actual decoding of my DNA.  It was a simple little blood draw but the next day, I developed a lovely bruise.  

I am eager to learn the results of the testing.  I asked the genetics counselor to give me a call when the results were ready and that I would come in so we can discuss them.  

So far my week off of chemo has been good. I noticed that I started developing a cough and some wheezing.  This is similar to the cough that I had before diagnosis (which was pleural effusion).  I basically have fluid that collects in my left lung and it makes it hard for me to breath.  This time around, it's very mild and taking codeine pills helps manage it.  I'm also back on Lasix (my diuretic) to see if I can remove the fluid in my lung and belly.  Monday I am headed back to the lab for blood work. If everything comes back normal, we will resume chemotherapy infusion #3 on Tuesday.  Keep your fingers crossed for me!

If you're interested in learning about my specific type of cancer, I encourage you to visit this link below.  It breaks it down very nicely.

http://www.nostomachforcancer.org/gastric-cancer/hereditary-diffuse-gastric-cancer

3/19/12 Follow Up Appointment With My Oncologist

I get chemo infusion every 3 weeks.  So the day before infusion, I do blood draws in the morning to check my liver and kidney function plus a CBC (complete blood count) and then see my oncologist.  This morning I went to Kaiser in San Mateo at about 9am and had my blood drawn.  When I arrived, I went up to the little machine that tells you to take a number.  You push the corresponding button on the screen that asks why you're there.  Blood draw, oncology, OBGYN.  I used to always push blood draw until the lady registering me told me to push oncology so that I get called quicker.  I pushed the oncology button and sat down.  There were other people waiting.  Then they called my number next.  Booyah!  I get to cut in line!  I register and then go to the chair where they will be drawing my blood.  My left arm is my preferred arm for blood draws but it's still recovering from the bruising and swelling of my last infusion so we had to go with my right arm.  My veins are small on my right arm.  I asked the lady to not to draw from median cubital vein but rather right above it more towards my elbow.  Thats where I had my blood draw in the ER and it was easy to find and painless.  She did and again it was painless and easy to find.  Just two vials of blood today.  The results were ready by 11:30am and my appointment with my oncologist was at 1:30pm.

Me waiting for my oncologist to come in.

I drove up to Kaiser South San Francisco and had valet park my car.  I love that Kaiser offers this service because parking in their garage takes forever!  I can never find a spot and always end up on the 4th floor.    Plus valet is free so why not take advantage of this service. I register and get called shortly.  Get my vitals and weight taken and fortunately I've maintained my weight.  I think I only lost 1 lb since my last visit.  Woohoo for me!  I wait for my oncologist in the exam room and she comes in.  She tells me that my liver and kidneys seem to be doing great but that my immune system is low.  It's not dangerously low but it's low enough that if I do chemo tomorrow, it will make my immune system even lower and that could be dangerous.  She told me no chemo infusion tomorrow and to stop Xeloda (oral chemo pills).  We rescheduled chemo for next Tuesday, March 27th, and I'll get my blood drawn again on Monday to see if my CBC numbers are back up to normal.  After my first infusion, my liver was not doing so well and we cancelled chemo for a week.  I took a break and let my liver recuperate.  My doctor also reduced my chemotherapy by 25%.  This time around, before I get my 3rd infusion, she is going to reduce my chemo infusion drugs (Cisplatin and Epirubicin) by 10%.  We will keep Xeloda at the same dosage.  This will hopefully bring up my immune system.

We went over a few things and I got to ask her questions.  She told me that she is going to send a referral for genetic testing.  Because I am so young and the typical stomach cancer patient is in their 60's, she wants to know if this is in my genes.  I'm happy to do this.  It will help my family know if they are at risk and this information will be helpful for future generations.

Will I get a port installed?  We are going to try infusion #3 the way we have been by just poking the veins in my arms.  If it starts to bruise, swell up, and cause me pain like the last poke did (when I had my Aredia bone treatment) then I am getting a port.  I can push for this, but I am scared.  The surgery looks scary to me.  But I've looked at what other cancer patients had to say about it and they are all giving such great reviews.  No one regrets it.  They say it is much easier.  I asked the lab tech who was drawing my blood this morning her two cents on ports and actually told me not to do it.  She said it leaves a scar and you have to get it flushed regularly.  I don't know if she has ever personally had one but I'm not concerned about scaring or flushing.  I do not want to go through my arm pain ever again! Plus, two of my old high school friends who are nurses also encouraged me to get it.  And I love nurses so I'm leaning towards getting one.

Here is a photo of my arm a couple days after my Aredia treatment.  Aredia is NOT a chemotherapy drug.  It is a bisphosphonate that works by slowly releasing calcium from bones, reducing the risk of broken bones and reducing bone pain. 

Why did she choose Cisplatin, Epirubicin, and  Xeloda as my chemo drugs?  What is the goal of treatment?  Is surgery an option in the future?  She choose these drugs because they have shown in studies to shrink cancer similar to mine.  Chemotherapy is supposed to ease my symptoms and hopefully shrink the cancer.  I have had minimal side effects so my quality of life on chemo has been outstanding.  Chemo has also prolongs my life.  Realistically, if I were to refuse treatment, I would be dead in less than a year.  She seems to think we're progressing since I feel great. Unfortunately, I am not a candidate for surgery at all.

How many rounds of chemo are we doing and when are we doing the next Pet scan?  I had my first Pet scan on January 25th, 2011 and this showed exactly where cancer was in my entire body.  We are doing 3 cycles and then my Pet scan has been scheduled for April 13th at Kaiser in Santa Clara.  I will then meet with my oncologist on April 16th to go over the results and see how we are progressing.  I am very anxious for this appointment.  But both my doctor and I have a good feeling about it.  She told me that we are going to shoot for 6 months of chemo and go from there.  We will see where we are at and how my quality of life is.  Some patients will do 6 cycles of chemo and then take a lil break from it then start up again, just all depending on how they are feeling.  As you know, I'm ready to dive into this and fight like the ninja I am. If the Pet scan reveals that cancer is outsmarting the chemotherapy and it's growing, we will change up the chemotherapy drugs.  With that being said, my quality of life could drastically change.  Right now I have had no vomiting and nausea but changing the drugs could mean new symptoms.  I'm crossing my fingers that it's working!

Can I get a massage and can I floss?  Simple questions but I've been getting conflicting information online so who best to ask than my doctor.  Yes and yes!  I can sure treat myself to a massage and flossing is ok as long as my gums are not bleeding too bad.  In that case, I just need to back off a little.

Will I have to start Neupogen?  Neupogen stimulates your blood system to increase your white blood cells to help fight infection.  Luckily I haven't had any infections and my white blood cells are not dangerously low, so for now we are going to hold off.  Plus we are reducing chemo by 10% on the next infusion so this should help my immune system out a bit.

What are these weird freckle like spots on my fingers?  At first I thought they were age spots but it's actually just hyper pigmentation caused by chemotherapy.  What I do need to watch out for is hand-foot syndrome which is redness and peeling of your palms.  By taking a daily dose of B6, this can help reduce my chances of getting hand-foot syndrome.  So far so good because my hands and feet are doing great!

What is up with my old friend ascites who keeps visiting me?  Ascites is swelling of the belly.  This fluid is caused by cirrhosis of the liver or cancer.  In my case, my cancer is weeping fluid which collects in my belly.  It is slowly doing this and that's why from time to time I do see an increase in my belly size.  Daily I take 20 mg of Lasix (which is a diuretic).  This helps me get rid of all this fluid.  And when my belly is really big, I can increase Lasix to twice a day so that I can urinate the fluid out faster.

Can I take a weekend trips?  Sure!  I can fly out to Seattle or LA for the weekend.  Just need to make sure I take my list of medications with me and need to stop by the doctors office to grab the notes my doctor takes of my last appointment.  This will update the doctor who is treating me about my cancer just in case I do get sick and have to been seen while on holiday.

I have no appetite and I'm getting a lot of mixed messages about what I should eat.  Should I not eat sugar? Should I juice?  My doctor flat out told me: I just want you to eat.  She agreed with me that I should enjoy life and enjoy what I eat.  I'm not going to eat the whole cake (which I couldn't even do if I tried since I have no appetite) but I'm not going to deprive myself.  Our bodies basically break down everything into sugar so have at it!  And the whole debate on whether my cancer was caused by the acidic level in my body, she wasn't sure if that applied to me and told me not to focus too much on that.

Can I get a disabled parking placard?  I get dizzy after walking around for a while and parking sucks!  Not a problem!  I can get a temporary placard for six months.  I'll be headed to DMV tomorrow to turn in my application.

That sums up my visit with my oncologist today.  I had nothing planned for this week since we were planning on doing chemo and I was planning on staying in bed for the rest of the week.  I am usually tired and dizzy after chemo and I cannot eat anything!  Now I just have to work on flushing my body of the chemo and staying hydrated.

Cross your fingers that my CBC comes back great next Monday and we can start infusion #3 on Tuesday!  My brother comes to visit next week from Seattle so I'm excited to see him and have his support!

Facts About Stomach Cancer

Here are some facts about stomach cancer and why I wasn't diagnosed sooner.


Symptoms:

Stomach cancer is difficult to discover in its early stages because the symptoms are often similar to benign conditions, such as indigestion or a viral infection of the stomach. Currently, only 10 to 20 percent of stomach cancers in the United States are found in the early stages. When any of the following symptoms persist longer than would be expected, a physician should be consulted (especially when someone is more than 50 years old):

Unintended weight loss and lack of appetite 
Stomach pain 
Bloated feeling after eating 
Heartburn 
Nausea 
Vomiting 
Swelling of the abdomen 
Diarrhea, or constipation
Blood in vomit or stool

All the symptoms in bold, I had.

Risk Factors:

Stomach cancer was once one of the leading causes of cancer deaths in the United States, but not any more. Doctors and researchers are not sure why, but suggest the decline could be attributed to less intake of salted and smoked foods which are more likely to contain cancer-causing nitrates. Also, there has been a rise in antibiotics to treat infection: heliobacter pylori bacteria, a possible major cause of the disease, can be killed with antibiotics.

Besides excessive intake of salt and smoked foods, other risk factors include:

• Smoking
• Alcohol abuse
• Previous stomach surgery (such as the removal of stomach tissue due to an ulcer)
• Blood type A: for unknown reasons, people with this blood type are at higher risk
• Age: people older than 50 are more likely to develop the disease; it occurs most often in people in their 60s and 70s
• Family history of stomach cancer
• Stomach polyps
• Menetrier's disease: associated with low production of stomach acids
• Environment: stomach cancer is higher in Japan, Korea, parts of Eastern Europe, and Latin America, in parts of the world where many foods are preserved by smoking, salting, or pickling, rather than by refrigeration
• Rare conditions, such as Lynch syndrome or familial adenomatous polyposis

The h. pylori bacteria causes ulcers.  I had never had an ulcer in the past. When my symptoms had came on and I saw my doctor in December 2011, he tested me for h. pylori and I was positive. The symptoms I had were also concurrent with those of an ulcer.  Most of my symptoms went away after a round of antibiotics but I was still sick.  I am not in my 60's and I have no family history of cancer, so why would we suspect stomach cancer?  The only reason why we caught it was because of the cantaloupe size tumor in my abdomen and my swollen abdomen.  I could have brushed it off as being overweight, but I had a feeling something was wrong and that's why I made an appointment with my OBGYN.  Most cases of stomach cancer are unfortunately caught in the later stages as mine was.  As I developed cancer and passed through stages I and II, I felt great.  I was a normal girl living life.  We passed stage III and I still had no clue.  It wasn't until I reached stage IV that the above symptoms developed and I was diagnosed.

I don't know why this happened to me.  I only drank socially, never abusing alcohol.  I never smoked, just the occasional cigarette once a year maybe when I had too much to drink at the club.  My diet wasn't bad, well at least compared to others that are in worse health than me and who don't have cancer.  I  always went to the doctor every year to get my physical and woman's exam.  Always saw my dentist every six month.  Always saw my doctor when I was sick.  I'd like to think that I was on top of my health.  But I got cancer.  I really don't know why it happened to me.  But it has sure made me believe that it can happen to anyone.  Cancer doesn't discriminate.  I guess the only advice I can give is to be on top of your health.  Listen to your body and get to know it.  When something isn't right, see your doctor.  I am fortunate to have a great internist and I felt like he really advocated for me when I got sick and had to see other specialist.  He would call and check up on me when the case was out of his hands.

But don't be afraid to live.  It seems like everything nowadays causes cancer.  If you want to eat that cupcake, eat it.  Just don't eat the whole dozen.  If you want to lay out in the sun, do it.  Just make sure you wear sunblock.  Try your best to be healthy.  We are given this body, a bag of meat and bones, to host us through life.  You want to keep it healthy so that you can live long and thrive.  Most important, remember the heart.  Be kind to each other.  Let's cheer each other on.  Because when we die, we aren't remembered for that awesome body we had or the car we used to drive. We are remembered for the person we were.  We are remembered for our heart.



A special thank you to the link below for the facts on cancer.
http://www.seattlecca.org/diseases/stomach-cancer-facts.cfm