I'm a Mutant

Greetings! Well, round 5 of chemo can be checked off my list of exciting things I got to do this summer.  Yay me! Last Monday didn’t go quite as planned though. I think I’ve mentioned before…. or maybe I haven’t, but I have to get an echocardiogram every 6 weeks during treatment to monitor my heart.  Herceptin, is one of the non-chemo drugs I get to help fight off my HER2+ tumor in my left breast. Well, one of the lovely side effects of this drug is that it can cause damage to the heart and it’s ability to pump blood effectively.  When I showed up on Monday for treatment, I was told that my ejection fracture of my heart had decreased since my last echo and that I was not able to get Herceptin and Perjeta that day. Prior to starting chemotherapy, my EF (which is a test that determines how well your heart pumps with each beat) was 55-60 and in normal range. The next one was 55 and my most recent one that I had just last week was measured at 40-45 and that is below normal. Kinda freaked me out a little because I’ve only had 4 rounds of it and I’m suppose to get infusions of Herceptin for an entire year. Anyway, I will return in 2 weeks to get another echo to see if the little “vacation” from Herceptin brought my EF rate back up…. which is possible. However, it sometimes takes longer. I just don’t want to be behind getting any necessary helpful drugs. So pray that my ER goes back up and I can get Herceptin and Perjeta with my final round of chemo on the 25th! I hear that Herceptin, when taken alone, tends not to have as great of an effect on your heart so I’m praying that will be the case in the year I’ll be getting the drug.

I’m on my third day out from chemo and I feel pretty decent. I’m not sleeping very well because I keep having hot flashes…and heart burn….mixed in with a wandering mind….and the occasional wake up, bad dream cry, from Judd makes for a difficult nights rest. I do have an appetite thanks to the steroids I take to help with nausea. I also still have my red locks…eyelashes and eyebrows.

All and all, not too shabby.

So back to the title of this post….I am a Mutant. Last week, before we left on our relaxing beach get away, I received a call from my genetics counselor at UF/Shands. My results were finally in (and a week sooner than I was told).  The results, however, were not results I wanted to get. Turns out, I do have a mutation in my TP53 gene which my doctors have assumed all along.

I have what’s called Li Fraumeni Syndrome.

So, what the heck does that mean? This is a rare disorder that greatly increases the risk of developing several types of cancer. TP 53 is a tumor suppressor gene that each of us have. This gene is supposed to help control the growth and division of cells. Well, mine is broken, so my body can’t keep up to speed with the rapidly dividing cells, which can then turn into cancer.

Moving forward, there is currently nothing I can do about this syndrome except for getting screenings and scans often to help catch any potential new tumors at an early stage.  There is no miracle drug to fix this problem and nothing even in trails.  The most gut wrenching part of this all, is that Judd, my sweet boy, has a 50% chance of having this mutated gene. Just thinking about it makes tears pile up in my eyes. Most likely, this was an inherited gene from one of my parents. However, it is possible that this was a spontaneous mutation that started with me.  My mom just got tested, and my sisters and Judd will all get tested as well. Each of them have a 50% chance.  Results take about 2 weeks to come in. I have not made Judd’s appointment yet. Honestly, I’m having a hard time thinking about him even having to have his blood drawn. He’s not even 2 and definitely hates setting foot in his doctor’s office. Now we have to get his blood drawn to fill a whole tube?!

I’ll go ahead and apologize to the technicians.……It’s going to be a traumatizing for all those involved.

PRAYER WORRIERS……WE NEED YOU!!! Please pray no one else in my family has this awful thing that’s trying to take over my life.

Since finding out I was part of this rare group, I have already met (on facebook) a group of people also dealing with this syndrome.  It really is comforting having people I can ask questions to that have been dealing with this longer than I have. It’s also helpful (but sad) seeing other 29 year old ladies who were diagnosed around the same time I was and whom have the same questions I have. It’s an awesome support group and they affectionately call one another….Mutants.

I have already reached out to get information to become part of research studies at M.D. Anderson and at the National Cancer Institute. If there is anything I can do to help raise awareness and or help find out more information to help cure this syndrome…. I am all for it!

I know this isn’t the uplifting blog post you like to read, but I appreciate the vent session. I still know that I have SOOOO much to be grateful for that sometimes I feel bad for feeling like I wish this C word wasn’t part of my life. But it is, and likely always will be. I’m just learning to live with it and be thankful for the MANY blessings that have come my way! I have the opportunity to really cherish each day, and that in itself, is a gift.

Gift

-Abby Jones, Mutant