Genetic Testing and Lymphedema

The American Society of Breast Surgeons held their annual meeting in Las Vegas, Nevada on April 26-30th. See here  There were two updates reported that directly affect me: Genetic Testing and Lymphedema. 

Genetic Testing
When I was diagnosed with stage 0 disease (DCIS) in 2005, I was offered genetic testing due to my family history. My mother was diagnosed with ovarian cancer when she was 35 years old. She never saw the return of that cancer, thankfully. Her mother survived uterine cancer.

My husband and I discussed the testing and what it would mean for our children. The possible genetic link and their futures in terms of cancer were relevant. We felt we needed to know. If I possessed an inherited gene, my children could be tested, and if it were found they too carried the same gene, close monitoring of their health could begin.

Luckily, the testing came back negative. At the time I thought another benefit of the testing might result in a family member stopping their use of genetics as a weapon against me for potentially causing my children harm. I felt enough guilt. He didn’t stop; sometimes people can hurt one another because they don’t think. Nevertheless, I felt better.

Months ago my Physician’s Assistant suggested I consider genetic testing again as technology has improved and there are more genetic mutations to look for now. In 2005, the test I underwent only looked at BRCA 1 and 2.

After reading the new guidelines from the meeting of the American Society of Breast Surgeons, I was surprised concerning all the possible mutations now found through testing. I felt the pain of fear stab me at the same time because of what I might find out through more testing. You can find more information here . The mutations are: BRCA 1 & 2, TP53 (Li-Fraumeni syndrome), PALB2, CDH1, PTEN (Cowden syndrome), CHEK2, ATM, STK11, NF1, NBN. The guidelines indicate what measures should be taken to monitor and possibly prevent breast cancer driven by these mutations. Mammograms and breast MRIs help to monitor for disease. Mastectomies, chemotherapy, and hysterectomies try to prevent it or control it once it occurs. As I read the report, I learned about other types of family cancers that put people in the high risk category for breast cancer. These cancers can have these particular mutations and include: pancreatic, colorectal, ovarian, prostate, thyroid, kidney, endometrial, gastric, male breast cancer, and an osteosarcoma brain tumor.      

In July, I will see a genetic counselor to further evaluate my case. I will write about the results of that meeting and/or testing when or if it occurs. 
Note: Errors can occur in testing. 

Lymphedema
My first surgery for breast cancer in 2005 involved a bi-lateral mastectomy and the removal of two right-sided axillary lymph nodes. The nodes were negative. Round two, in 2009, a tumor that appeared near the center of my chest was removed in my breast surgeon’s office. My surgeon wanted to make sure there was no more cancerous tissue where the tumor had grown so she scheduled surgery, removed more tissue to be viewed under a microscope and also removed another lymph node. It too was negative.

Before surgery we discussed the possibility of lymphedema. She informed me that if the lymph node she was planning to remove held cancerous cells she would have to remove more lymph nodes. I was quite distressed. I had seen the pictures of severe cases of lymphedema. Avoiding it was high on my priority list. In the end, I have had three lymph nodes removed.

Not long after my surgery as I was going through radiation and chemotherapy, you guessed it, I developed lymphedema. At first it was mostly in my fingers and the top of my hand. I could push my finger tip into the top of my hand and pull it away and the finger impression would remain. A clear indication that indeed I had what I had feared. It eventually moved into my lower arm as well.

July 2010

In this picture, you can see my lymphedema is a mild case, but from my point of view, it was huge; I cried many tears over it. I hated my hand and arm. It was a constant reminder of what was happening to me. There were moments I wanted to cut it off thinking I would be happier with myself if my arm was gone. Strenuous activity like yard work made it swell even more. I spent hundreds of dollars—my insurance did not cover any of the compression supplies—on wraps, sleeves, and gloves trying to find what worked best for me. I went to a physical therapist to learn how to wrap my arm and hand correctly and to perform lymphatic drainage. Every night I elevated my arm and would try to stimulate the tissues and the lymphatic channels just under my skin with soft circular motions performed by my other hand. I started with my fingers and worked up to the top of my arm and chest hoping to send the swelling away. I couldn't tell if any of it was helping. I began to think that all of the help I sought was useless. This was something I had to figure out.

My plumbing issue of not having three lymph nodes where my lymph fluid entered and exited my arm gave me little hope of ever having a normal appearance again. After finally figuring out how to manage the swelling in my fingers and the top of my hand by wearing a glove purchased here in which I inserted padding for added compression, somehow after the onslaught of Taxotere and the year of Herceptin, I began to see veins in the top of my hand again. If I held my fingers together, light would shine between them. Could it be true? Was my lymphedema getting better?

It was.

Round number three came along and again I was treated with Taxotere, Herceptin and a new drug, Perjeta. My lymphedema worsened. Again I donned a compression glove and sometimes a sleeve. A year later my treatment switched to Kadcyla (TDM-1) and my lymphedema improved. My right hand will never be as small as my left hand, but as long as I can see the veins in the top of my hand happiness fills me. 

An article here reported on an interview with an attendee of the American Breast Surgeons meeting. Sarah McLaughlin, MD, a surgeon at the Mayo Clinic in Jacksonville, Florida said Taxane-based chemotherapies (Taxotere, Taxol) may contribute to lymphedema—of course axillary lymph node removal and radiation are still part of the equation. It appears that I was on to something in thinking maybe my chemotherapy treatment was worsening my condition.

Today, my hand and arm look like this.
 

May 2017

My fingers are still larger than normal, and my right hand is bigger than the left, but I don’t cry about it anymore nor do I wear a glove or sleeve.

If you have lymphedema, chemotherapy could be—in part—responsible. The best news is, it might get better after treatment with a Taxane is over, at least a little.


(I just discovered this company, LympheDIVAS, now have compression gloves instead of only gauntlets like they used to carry and can be purchased through Bright Life Direct! I have not tried them, but if my lymphedema worsens I might get a little crazy and try something fun. Nothing cheap about these, but they have wonderful patterns and colors. Check it out here . I found Bright Life Direct's plain tan gloves to work best for me.

Lymphedema explained

*Note:  Taxotere made my lymphedema worse.

My appointment with Dr. R. went well yesterday.  My fingernails  are no longer infected.  What a relief. But, my lymphedema is rearing its ugly head.

Lymphedema in my right arm, hand and fingers first appeared in 2010 about a month after my surgery to remove a local recurrence in my skin along the inner right side of my chest.  At that time, one lymph node was taken from my armpit to determine if the cancer had spread.  Cancer in the breast typically spreads to the under arm lymph nodes first before it spreads anywhere else.  (A small percentage of lymph fluid drains to the nodes in the middle of the chest.  That is where my cancer spread.)  The first indication that something was wrong was the development of a golf ball sized mass at the incision site under my arm where the lymph node had been removed.  This swelling was drained of clear fluid three times before it finally subsided.  In 2005, when I had my bilateral mastectomy, two lymph nodes were taken from that same area of my armpit.  My lymph nodes for both surgeries were cancer free.  As a result of this additional lymph node being removed, the drainage pathway for the lymphatic fluid was further compromised resulting in my lymphedema.

LYMPHEDEMA EXPLAINED

Here is a description of how fluid gets trapped in the limbs of the body.

The lymphatic fluid is carried by the bloodstream first.  Once it reaches the capillaries, this fluid penetrates through these membranes and spills out into the surrounding tissues providing those cells with necessary nutrients and gases so the cells can function properly.  This fluid in the tissues then picks-up wastes from the cells, dead blood cells, toxins, and cancer cells from the tissues.  About 90% of this fluid enters back into the blood stream.  The rest enters the vessels of the lymphatic system.  As this clear yellowish fluid travels through the lymph vessels, it enters lymph nodes along the way.  These nodes filter-out various harmful or not needed components from the fluid in order to prepare it for entry back into the blood stream.  If the lymph nodes detect a pathogen, it sends lymphocytes (white blood cells) into action.  Lymph nodes also trap and destroy cancer cells, but the nodes can become overwhelmed by cancer just as it cannot control all bacterial and viral infections. 

Lymphatic fluid travels in one direction.  That direction is always toward the subclavian vein in both the right and left side of the neck where the lymphatic fluid reenters the bloodstream.  There are one-way ducts throughout the lymph vessels so there is not back-flow of the lymph fluid.  Since the lymph fluid is not pumped by the heart, the body uses other methods to do this job.  The skin provides compression and aids in this movement of lymph fluid.  When swelling occurs, this no longer functions properly.  Compression garments help by applying pressure against the small vessels near the skin and aids in the fluid movement. There are also smooth muscles along the lower larger lymph vessels to move the lymphatic fluid. 

When there is damage to the lymphatic system, as there is when lymph nodes are removed, there is a disruption in the flow of this fluid causing fluid to accumulate.  This is lymphedema. The worst type of edema is called elphantitis.  This tropical disease damages the lymph system and is horribly disfiguring.  My lymphedema is considered mild, thankfully.  My hand is different in appearance from my left hand and when my fingers are swollen there is a tightening of my skin that was mildly painful in the beginning, but none of that prevents me from doing any activity.  Although there is swelling in my arm, it is not as noticeable as the swelling in my fingers and hand.  When the lymphedema first appeared, I could press on my wrist and top of my hand with my fingertip and it would leave an indention on my skin where it had been.  The pitting would remain for less than a minute and then disappear.  As time moved on, this pitting became less and less and I found I didn’t need to wear my compression glove and arm sleeve to help control the swelling as much as I had been.  I was so happy to see veins visible on the top of my hand again and my fingers no longer were as swollen.  But now I again can see the pitting in my hand when I press a fingertip into my flesh.  I have started wearing my compression glove again.  Perhaps this is just a flare up as my oncologist today said that some of her patients have experienced.  I sure hope so.  It is such an ugly reminder, along with my separating fingernails, of what hell my body is experiencing.

If you experience swelling in the arm or hand after removal of lymph nodes, see you breast surgeon for a diagnosis.  If it is lymphedema, compression garments are essential.  A physical therapist can do lymphatic drainage techniques to aid in removal of the excess fluid which may help.  That person can also teach you how to do it yourself which is easier on the wallet.

LOSING BLADDAR CONTROL

My oncologist and I have spoken in the past about my losing control of my ability to stop urine from leaving my body when I cough or sneeze.  This problem began for me after beginning treatments of chemotherapy for this third diagnosis of cancer.  Recently, I have found that when my bladder is really full, I am experiencing leakage.  Dr. R. explained that this can happen when women get older.  It can be the result of having children and losing estrogen as the body moves into menopause.  That is me, had children and now in chemo induced menopause.  Dr. R. said, when I had spoken to her previously about this, that the chemo drug, Taxotere, could be a factor.  If it worsens, I could be seen by an urologist for testing to determine if there are other causes.  In the meantime, I could do those Kegal exercises that doctors tell woman to do when they are pregnant to strengthen the pelvic floor muscles which may help prevent the urine from leaking out.  This is just another fun bodily malfunction from the life and times of me.

POSSIBLE ELIMINATION OF TAXOTERE

I also discussed with Dr. R. about possibly eliminating Taxotere from my treatment.  At a previous appointment, I mentioned to her about my discovery on the internet of women explaining that Herceptin or Herceptin and Perjeta were the only drugs used in their treatment.  This occurred because their tumors were appearing on their scans as stable or their tumors were classified as NED (no evidence of disease).  Dr. R. had said we could discuss this further at a later time.  Since, I have bypassed the 6 month mark I again asked if this was an option for me.  She said that it was, but before any decisions were made she would first like to discuss this with the other 5 oncologists on staff.  Perjeta is fairly new, released for use in June of 2012, so most of the oncologists in her practice have not had much experience in determining the best time to consider removing Taxotere from this particular treatment regimen.  (only 30% of breast cancers are Her 2 neu)  She is going to ask the team if and when they might consider treating me with Herceptin and Perjeta only.  I am excited about this prospect due to the side-effects of Taxotere.  I did ask, if I stopped Taxotere could I ever go back if it is discovered that the Taxotere was the drug  keeping my cancer stable rather than the Her 2 neu targeted therapies.  During my last discussion about stopping Taxotere, I thought she said I could not return to that drug.  Today it became clearer that what she meant was another regimen would probably be offered because the Herceptin and Perjeta would have shown to be ineffective and there are so many other good treatment choices to keep my cancer under control.  But if it became necessary we could consider Taxotere again in the future. 

As we continued our discussion of possibly discontinuing Taxotere, Dr. R. said that studies have shown that some woman have stable tumors for long periods of time with only Herceptin used in their treatment.  She said of course for me or anyone there are no guarantees, but she felt that it was a good possibility that my cancer will continue to respond to Herceptin based on how I am responding presently.  If she had to make an educated guess, she said she would say that the Herceptin and Perjeta are the drugs that are keeping my cancer stable not the Taxotere alone.  Most patients with Her 2 neu positive tumors will receive some combination of drugs that includes Herceptin for the rest of their lives. She also gave me some interesting information about Herceptin.  This drug can stop working and for some reason when a patient is taken off Herceptin and then re-introduced to it sometime later, Herceptin begins to work again. 

Dr. R. was very thorough today in answering my questions and gave me much hope for the future.  She mentioned that my cancer tumors are so small that if we didn’t know for sure that one of the lymph nodes contained cancer cells, someone might look at my scan and suggest that I am NED (no evidence of disease) or at least really close to it.  She said that there is still a possibility that my tumors may shrink or disappear from a scan because of their size.  If I was a patient with widespread tumors that possibility would be highly unlikely.  Since my tumors have responded positively during this first line of treatment, it may be an indication of how my tumors will respond in the future. No guarantees, but for now all good news to me.  This appointment left me with some much needed hope.

Getting rid of the Taxotere chemotherapy drug decision will be made after my next scans in January and the recommendation of her team.  I hope it goes positively because I would like to have a full head of hair again.  Taxotere would no longer be present to kill those fast dividing cells.  My hair would grow normally again.  Plus food would taste better.   

Speaking of hair…my hair continues to grow on my head.  It is thin, but visible.  But, for some reason, where I need it most, on the top front of my head, it still is not filling in as nicely as the sides. Bummerrrrr.  My bodily hair is still barely noticeable.  Yes, no underarm shaving is necessary. 

That is all for now.  Thanks for reading.

Lisa