Wednesday, June 20, 2012

Change Partners

The relationship of doctor to patient can be likened to dancing. There are two participants; one leads and one follows. Since the partner following is usually moving backwards and can't see where they are going, it requires quite a bit of trust. 

After my WM diagnosis was confirmed, my oncologist told me we would check my blood every three months to see how quickly the disease would progress. Because I was otherwise healthy and asymptomatic, there would be no treatment in the short term. He would see me in six months and, if my lab results remain stable, that interval might lengthen.

We were impatient to see the results from my first 3 month lab tests because they can reveal a trend line that might show how quickly my disease is progressing.  My IgM is the factor to watch and it went from 2017 to 2051. That is considered stable, they don’t even begin to treat until it is in the 4000-6000 range WITH symptoms.

When my numbers continued to be "stable" (IgM 2145) at 6 months from the diagnosis, my oncologist canceled the next appointment. I was a little nervous to go a year without being seen, just after being diagnosed.  I saw him again in March of 2011. As usual, I went in the week before to have my blood work. As usual, I checked online to see if the numbers were ready. Bruce was not planning to go with me to the appointment unless my numbers had soared to the point where treatment might be discussed.

I called the oncologist office to see if they had received the results. The nurse put me on hold and returned to tell me that they had. I asked for the numbers and she would not tell me. I explained that they had not posted to my chart online and I needed to know so my husband could decide whether to take off work. She put me on hold for a long time. When she returned she said that I would need to come in and the oncologist would discuss it with me. 

My heart sank. I called Bruce and he was very distressed. He took off work and we went in together, both expecting dire news.  It seemed like forever, waiting for the doctor. When he came in he said, "Wow, your numbers went down-IgM is 2008." I burst into tears while the doctor stood staring, perplexed. Bruce explained that when the nurse refused to give me the results, we both assumed the worst. The doc said, "that is why we don't ever give the numbers."

I told him I ALWAYS got the numbers because they are on my chart online. He said "you can see lab results ONLINE?? How do you do that?"

I did not have the confidence to dance backwards, trusting this partner to keep me upright. It was time to change. 

Truly, we can make our plans but it is God Who guides our steps.  In May 2010, I had an opportunity to attend a local meeting of the local WM support group. There were several well known WM experts who came and spoke to us. One of these amazing doctors actually practices in Seattle and my husband and I spoke with him. We were very impressed with his combination of passion and compassion and resolved to try and make an appointment.

Scripture reference: Proverbs 16:9; Proverbs 19:21

Monday, June 4, 2012

Gene Pool-Shallow End

When we attended the local WM support meeting, we learned that there are several studies in the US which are pursuing information regarding the genetic transfer of WM. Only about 1500 people per year are diagnosed with it in the US, compared to about 230,000 cases of breast cancer. Yet, my dad and I share the disease. Apparently there is a genetic component.

I volunteered for two of the studies: The Bing Center for WM at Harvard and the National Cancer Institute at NIH. The Harvard study hopes to uncover the difference between familial WM and non-familial WM and to discover what genetic traits put you at risk for WM. The NIH study hopes to determine if familial WM is caused by inherited susceptibility or shared environmental exposures and thereby find clues to the causes of WM in all patients.

In both cases, the researchers put a lot of thought and effort into making the process easier for the volunteer. There were long surveys (one of them was 14 pages) with family trees and questions about demographics and personal history. Medical records were transferred and blood samples (12 tubes per study) were provided and shipped off. Expedited shipping and cold packs that were frozen ahead of time kept the samples viable. They provided all the shipping supplies, postage and even made the appointments for the lab work-all at their expense.  The researchers are very kind and compassionate and always available by phone or email for questions. I was very impressed with both their friendliness and professionalism. 

NIH was also interested in my family members, so my husband, father, mother and brother volunteered as well. It is extremely rare to have a WM patient with both parents still living. They felt that our family is in a position to offer unique insights into the genetics of the disease. You may wonder why my husband was involved; they also want samples from our daughters. By comparing the DNA of those of us who have WM and those of us who do not, they are able to fill in a lot of blanks.

All of this may sound like a lot of trouble but when compared to traveling to the lab to be questioned, poked and shuffled around it was a piece of cake. Basically, I filled out a survey, had a blood draw and dropped a package at Fed Ex. My hope, and the hope of my family members who volunteered, was to contribute in some small way to the knowledge of this disease and, someday, a cure. I am particularly eager to help if I can, since the type of WM I have is apparently inherited and I have two daughters and now three grandchildren.

Imagine my delight when in December of 2011, Harvard announced that Dr. Treon and his team had "identified a gene mutation that underlies the vast majority of cases of Waldenström's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find a genetic cause."  I have no idea if my data was even used in this particular study, but it is gratifying to think that it may have been.  The hope is that the discovery of a genetic signature for WM will enable doctors to determine without a doubt which patients have it and not a similar condition such as other forms of lymphoma or multiple myeloma.  Drugs that block the abnormal protein (IgM) could, theoretically, short-circuit the disease process in many patients.

I'm glad to have these intrepid explorers on my side. 

Scripture reference: 2 Corinthians 1:9-102 Thessalonians 2:16-17