Thursday, June 20, 2013

Up and down, up and down

Mom's CA125 count went down slightly again by a couple of points. I think that is going to be the norm... up a little one month, down a little the next, then up a little again. I guess as long as there are no large fluctuations all Dr. Porubcin will want to do is monitor her blood counts.

Mom may have to go in and do an iron infusion again at some point. She has been having some issues in the last couple of weeks with bruising and such. They can't pinpoint anything and aren't going to reduce her Lovenox dosage (because if they reduce that she will surely get a clot somewhere).

On another note I receive a lot of information from the Ovarian Cancer National Alliance, and on their web site is a summary of studies presented at the American Society of Clinical Oncology annual conference.

Of note is the section on sub-types of Ovarian Cancer. Even though two people in our family have Ovarian Cancer, both are different in terms of how they grew and the treatments prescribed. Mom's cancer was very undetectable and never got to the mass stage... the surgeon in Iowa City described it as "fine filaments" which were set up like a web in mom's abdomen. Cousin Heather had a mass about the size of an orange on her ovary which is what triggered symptoms eventually. The only similarity was that both women were at Stage 3. Some of the studies allude to specific genomes and specific cancers, but since mom's genetic test came back with the variant on BRCA2, there isn't anything conclusive in regards to variants. I'm hoping that with the recent court ruling that eliminated the BRCA gene patents maybe some more studies can come out on the variants.

So overall it looks like the summer is going to be a cancer-hassle-free season for mom! Maybe a short trip is on the agenda - there is a new baby in the family again (congrats Demara and Greg!) so mom may feel like hitting the road.

Friday, June 14, 2013

Variant of Uncertain Significance

Mom received her genetic test results on Monday. Overall the news was good in that she didn't have the mutations on the BRCA1 and BRCA2 that are known to be responsible for a significant hereditary risk in breast and ovarian cancer. There was a mark on the BRCA 2 gene that they wouldn't classify as a mutation... they called it a "variant of uncertain significance" meaning that they wouldn't go as far to say it was a mutated part of the gene that was associated with a high risk of cancer. The counselor said that the variant increased the cancer risk by probably 10%... as opposed to 80% if there was an actual mutant gene classification.

The genetic counselor did have some demographic information about the variant. Most of the women who share this "variant of uncertain significance" on that portion of the BRCA 2 gene are from western european nations (we are of german/irish heritage) and there was a large chunk of Ashkenazi Jewish women who were in that data. The only reason why I bring up the Ashkenazi point is because women of Ashkenazi Jewish decent have a higher rate of ovarian cancer. So if that BRCA 2 variant is also shared by that sector of women then I have to think the risk is higher.

The counselor was very cautious about saying anything about high risk... as there is no data to support it. She said that if there is a rise in the number of people who have this BRCA 2 variant then they could reclassify it as a mutation and therefore put it in a higher category for cancer risk.

Of larger significance is the recent ruling by the Supreme Court that genes cannot be patented. At the heart of the issue was Myriad Genetic Testing (the same company that tested mom's genetic material) of the BRCA1 and BRCA2 genes. To my understanding Myriad had a patent on BRCA1 and BRCA2 genes, thus a monopoly on testing. No one really knew or was allowed to research the gene complexities and variants and therefore no one really knows the implications of the disease that lurks in their DNA. Maybe with the ruling more companies can do research on the BRCA gene and find out if certain variants are known to be at a higher risk.

Wednesday, June 5, 2013

Nine Girls Ask

I love it when I run across ovarian cancer survivor stories (thanks to the OCNA for sharing those stories) and the great efforts they take to not only conquer the cancer but also create awareness about the disease, the symptoms and most importantly taking charge of your own health and empowering yourself to keep asking questions.

The survivors name is Joan Wyllie and the story behind her organization, Nine Girls Ask, is one that we have all heard in one way shape form, etc. After becoming very ill (with symptoms now widely known), Joan, over a period of SIX months, sought the advice of NINE physicians ranging in specialties from gynecology, urology, gastrointestinal and even a psychologist.

The last doctor handed her a prescription for a drug that would “tell my head to tell my stomach to stop hurting." After that she made the decision to become her own advocate and insisted on laparoscopic surgery. On February 29, 2008, she was diagnosed with Ovarian Cancer Stage 4.