We have been making plans to return to NC Aug 10. We’re going to try to live there again as a family in our house to resume a quasi-normal life. We have scheduled an appointment with an oncologist at UNC (Dr. Lisa Carey) to resume Lori’s treatment plan. Today, we met with Dr. S once more to get a final check-up before returning home, and when we mentioned we would be seeing Dr. Carey, he was extremely pleased. He raved about how good she is; “world-renowned” were his words, and he is certain Lori will be receiving excellent care from her.
Last week, Lori finished the required paperwork and family history prerequisites for proceeding with the BRCA 1/BRCA 2 gene testing. The results of this test have huge implications, not as much for Lori but for her living blood relatives and their children. No one in her family has ever been tested, but ovarian and breast cancers have been appearing among her relatives, and since Lori was diagnosed at such a young age, it raises even more alarms. The BRCA mutation is incredibly fascinating; well, maybe horribly fascinating is a better way to describe it.
A mutation of the BRCA gene can take many forms but often it is linked to women who experience breast or ovarian cancer at relatively young ages. It is also very rare. About 80% of women diagnosed with breast cancer have a sporadic case of breast cancer, or in other words, the breast cancer developed by chance. About 5-15% of women developing breast cancer do so because of familial risk. Familial cancer occurs when several family members have cancer, but the diagnoses do not occur at young ages/or do not occur in a clearly defined inheritance pattern. Individuals in families with familial cancer are considered to have a moderately increased risk for developing cancer. Only about 5-10% of women developing breast cancer do so because they inherited a genetic mutation that increased their breast cancer risk. A mutation is a change in a gene which causes that gene to function incorrectly which may result in a particular disease developing. In the case of the BRCA genes, it often causes breast or ovarian cancer.
The test is a simple blood draw which they use to analyze a bunch of DNA stuff associated with BRCA genes. Every human has two copies of both the BRCA1 and the BRCA2 gene. For visual learners, imagine two healthy copies of the BRCA1 gene are annotated as “AA” (two uppercase A’s to represent two healthy copies of the BRCA gene). If there is a mutation of one of those copies, it would be annotated as “Aa” (one healthy copy and one mutated copy). Here’s an example of how that might affect a family:
Let’s say a woman named Mary carries two copies of BRCA1 and hers are both healthy (AA). Her husband, we’ll call him John, carries the mutation so one of his copies is bad (Aa). When Mary and John make a baby (we’ll call the baby girl Flubus) they will each donate one of their BRCA genes to the baby so that she also will carry two copies of the gene just like every other human. Unfortunately for little Flubus, there is a 50/50 chance that her dad John will pass along his mutated copy (a); if that happens, then baby girl Flubus will also have the mutation. So it’s a 50/50 chance that Flubus gets it. And it’s a 50/50 chance for each of Flubus’ brothers and sisters as well. Now if Flubus grows up and gets tested and finds out that she is positive, that has huge implications for the rest of the family. First of all, that means one of her parents gave her the mutation. It also means that each of Flubus’ siblings has a 50/50 chance of having inherited the mutation as well. But the fun doesn’t stop there. If Flubus wants to have kids, she has to understand that there will be a 50/50 chance of passing along the mutation to each of her children (boy or girl doesn’t matter). Men are just as likely to carry the mutation as women, but they are unlikely to be harmed by it since they generally have neither breasts nor ovaries. One of my sisters-in-law sent me this link further explaining what one can do if they test positive: http://www.breastcancer.org/symptoms/testing/genetic/pos_results . For women who find out they are positive but they don’t yet have cancer, some decide to have double mastectomies (see Angelina Jolie) and some even have hysterectomies. There are gatherings and conventions and tons of research projects out there all focused on curing and treating those affected with BRCA mutations.
Now for Lori herself, it doesn’t really matter all that much. She already has cancer. However, there are certain cancer pathways which are often heavily traveled by cancer cells in women who have tested positive for a BRCA mutation. There are also some new and exciting trials in which women who are BRCA positive have used PARP inhibitors (a medicine) to block those pathways, and it appears to be working very well in many cases. So if Lori tests positive, that will suck, but it will also open up new treatment options for her. We should have the results of her BRCA test by the end of next week. Of course, I hope she’s negative because that makes my job of protecting my women just a little bit easier. But if she’s positive, at least there’s a silver lining.
When we met with Dr. S. today, he did another check of the tumor and noticed that it is bigger than last month. Also, there are more skin nodules forming at the surface; but we knew that already. He talked about a couple more chemo options if Doxil doesn’t help reduce the tumor size. One of them is called Eribulin and it sounded interesting. It is a good option to try for patients who respond to nothing else. It has “different” characteristics which typically only work for people with “different” cancers, and it is derived from stuff they found on sea sponges off the coast of Japan. Lori’s case is reaching mythical proportions around the IU Cancer Center. Everyone who works there knows Lori (even people she doesn’t remember meeting and that’s a rare thing). I think they talk about her case quite a bit.
Dr. Schneider said that in his entire time treating cancer, he’s never had a patient who failed to respond to so many different treatments. He followed that up by saying he’s never had a patient he more wished would respond. It’s clear how much he likes Lori.
I didn’t share this last time I posted even though I knew about it. I just didn’t feel like it. On the early July CT scans, they found some faint lesions beginning to appear on her liver. That’s bad news of course, but it doesn’t really change anything on the prognosis yet. Luckily, the liver is excellent at regeneration and healing itself, and it can function even through significant damage. It will be important to monitor it though and to focus attention there on future scans. We’ll likely have a new set of organ scans next week when we begin treatment at UNC.
GOING HOME Cont:
We’re excited to return home and just live as a family together for a while even if only for a short time. We have a ton of support there from my squadron. It’s incredible what they have done and what they are offering. Lori’s gofundme account is up to something like $33,000!
That account was started and buoyed by a very close friend in my unit. We’ve already used some of those funds to pay for her wig and for lodging/travel costs associated with her treatment, and it will be a huge lift when times get tougher. Right now, we can take care of the kids ourselves without hired help (we think) but we are expecting to need to hire full-time help eventually. We’re overhauling our budget in the coming months to make that possible, but we couldn’t even begin to work it out without the financial aid everyone provided. The squadron spouse’s group is also setting up a meal rotation and child care system to help ease the transition. I’ve been in some good squadrons prior to this one, but there is just no comparison for what they’re doing. Thank you everyone for your support! We do not feel alone in this.