Designer Genes

For the first time in a very long time, I feel excited. Not just excited. ELATED. And here is why….

As you know from my first few blog posts, my entire family–My mom, dad and sister…and now myself….all currently have, or have had cancer. I know what you’re thinking…..Did I ever drink their water?! OMG!!!! (Can’t say I blame you there). My dad has a rare form of cutaneous lymphoma, which has shocked most medical professionals by not yet going systemic (spreading internally) over the past 20+ years. Additionally, he suffers from two very rare autoimmune disorders (one in his eye and another in his throat), which COULD or COULD NOT be related in some way. lol. We are just an amazingly unique family. My dad’s cancer flares up about every 5 years or so, and it seems that radiation treatment works pretty welll to keep the tumors at bay. My mother had thyroid cancer, which thankfully was caught very early. She only needed some medications following her thyroid removal, and did not require chemotherapy or radiation (thank God). Then there is my sister, whom I refer to most often. Jeanne was first diagnosed at age 17 with stage 2 Hodgkins Lymphoma (it wasn’t until this year that we learned that she was actually diagnosed with Nodular Lymphocytic Predominent Hodgkins same kind). She went through approximatley 8 months of chemotherapy and radiation therapy. She was in remission for a little over 7 years before she relapsed in stage 3, while pregnant with the twins (my neice and nephew).  After giving birth, she had a full stem cell transplant (they were able to harvest her own stem cells, so she did not require a donor), followed by some pretty intense chemo. She was hospitalized for a long time, and it was honestly one of the worst things to just stand by and watch. Click here to read more about stem cell transplants:

When I was first diagnosed with my super rare cancer, I was told that there are “familial” links between siblings. However thsese studies have been inconclusive, and are more or less medical journal articles with a hypotehsis that this could be a case. There are no conclusive studies showing an actual genetic link between the two. So for one of the oncologists I intially saw in the first few weeks post diagnosis, our story was of great interest to him. He suggested that this could be environmental in some way, and asked a lot of questions about where we grew up–whether or not it was a rural area. LOL. I had to laugh because for all my West Farmington buddies out there….um duuur. Rural to say the least–especially 20 years ago when we were there!! The following link contains the data from where we used to live. The second picture on this page is actually our old grocery store that my parents used to own! Please note…population in 2011…498. lol. small. town. central. –And so this oncologist referred me to see a genetic specialist named Dr. Bedoyan. Something that at the time, I was rather flippant about, considering at that point, I really just wanted to start feeling better. (I was actually about to puke in his office, and required some zofran STAT while he was talking!). My first scheduled appointment with him was about 2 months post my start of treatment, and unfortunately I had to cancel that morning because I had the stomach flu. They seemed SUPER upset with me that I had cancelled my appointment, to which I immediately muttered (“whatever bitches”) in my head, and VERY hiesitantly rescheduled.

Which leads me to what happened to me yesterday…..I finally went to the genetics counseling appoinment. Ultimately what I had hoped to get out of it when walking in, was simply an idea from them as to what I should do regarding testing Mack and my neice/newphew, since everyone seems pretty convinced that I had my cancer while I was pregnant with him, as did my sister. I had my dad come with me, since we have such a LOOOOONG family history of cancer, and since he could account this history much better than I ever could. We were in the waiting room when they called us in. We were met by two woman–both smiling ear to ear, stating “We are SOOO happy to FINALLY meet you”….

OK it is at this time that I should note the following: Our family has spent an assload of money in medical bills over the years. We are all so used to attending any and all medical appointments, where you can tell the doctor didn’t review our case before seeing us–thus forcing us to recant EVERYTHING about our family, medical history etc. etc. –Which as you can see is time consuming, as well as annoying, considering we are almost always met with: “humm. This is a very unusual case. I’m not quite sure what to make of it”.

So, when these woman seemed EXCITED to meet us, my dad and I both gave each other a look, which included relief, wonderment and shock all in one. We sat down, and learned that one of the women was a genetics counselor, assistant to Dr. Bedoyan, and the other was a young lady from Case Western University, who was observing/studying/learning. She asked for our whole family history, which between my dad’s side, mom’s side and my husband’s side…took quite a while. When we were done, she told us simply that she just wanted to make sure she didn’t miss anything. They had an ENTIRE HUGE FILE just about our family. It was weird and amazing at the same time. Dr. Bedoyan–who works for the Center for Human Genetics– came in, and almost treated us like medical celebrities or something! They explained about a specific genetic test that they would like our family (my dad, mom and myself…not my sister as of yet, since her blood is compromised due to her stem cell transplant) to participate in. It’s called Whole Exome Sequencing (WES). Click here to learn more about this test:

The way it was explained to us was as follows: Dr. Bedoyan’s career interest has always been lymphomas, and attempting to prove whether or not there is a specific gene that could determine a presdisposed genetic link among family members. (Like the BRCA gene–and you basically have to live under a rock to not know about this, what with Angelina Jolie and all ).  In a nutshell, he truly believes that he is finally going to find that answer with us. With our family! (So my West Farmington friends, dont you worry just yet about any weird environmental factors!) He explained that this will be the FIRST time that he will perform this testing for lymphomas specifically, as well as the first time where he has full family participation. The reason most often that there is not full family participation is because for just ONE PERSON the cost is approximately $7500 out of pocket. WTF?!!!!! It was then that my dad and I looked at eachother and were about to bounce on out of there like a bad check, when they told us that my insurance company…somehow…..someway… covering the testing 100%. And not just for me. They are paying for my mom, dad and sister (if needed) to go through the testing as well!!! WE WERE FLOORED!!!!! So shout out Anthem BCBS. Sorry for all the swearing and negative things I shouted out about your poor customer service and billing system. I take it back completely. You rock. I imagine that they figure they may end up spending a lot less in the long run for our little family if they cover this testing, and they are probs right! Dr. Bedoyan thinks that the findings will be published in medical journals, as he believes he will find SOMETHING. He may not find a specific gene (there is apparently only a 30% chance of that), but he seems very hopeful.

And not only will we be genetically screened for this study on lymphomas, but we will also see whether or not any of us are predisposed to have heart conditions or other genetic disorders; whether or not we are carriers for any kind of chromosomal defects or disorders/diseases/etc. so that we know how to gear Mack’s (and my neice/nephew) screening process. It’s all pretty surreal. They did tell us that if we were predisposed to have something terminal–Parkinsons, Alzeihmers, dementia etc….that they would not tell us that, since there would be no way to treat it. FINE BY ME. I figure if I’m going to have one of those conditions, I probably won’t even know, so why worry now?! They also warned me that there is always a possibility that I could find out my dad is not my real dad, to which my dad said “well hope we can track down that mailman then!”

To see how excited this group of people was to meet us–to see that they have been doing research on us for MONTHS now, to see that there was a student intern who had to test in, just to be part of a study on our family?!!! Well like I said–it was the first time in such a long time that I have been EXCITED. I’m excited because they all really believe they will–for the first time EVER–find a genetic link. Could you imagine what that could mean? Because it is a slow growing cancer, this could not only lead to earlier detection, but possibly to a cure one day! The possibilities are really endless, and we are all MORE THAN WILLING to participate. When I left this appointment, it felt like a HUGE WEIGHT was lifted off of me. It was the FIRST TIME where the fear of dying wasn’t nearly as great. I have always wanted to be a wife and a mother. Done. But beyond that–to be able to do this–to possibly be able to help my son, and his future children, and other people? Well, that made me feel like if I do die earlier than I would hope–I can potentially leave something for my son and my husband to be proud of. I can’t start a rock band and get 2 million youtube hits, or complete an entire bucket list and get on the Ellen show–but THIS is something that I CAN do. And if by studying me–my family–someone’s life could be saved one day? Well that’s enough of a bucket list for me.

In other news:

1) I wasn’t nearly as sick this time post chemo–Likely because I had all those fluids/antibiotics while I was in the hospital to help move those drugs right through me, which was awesome. Really hoping that will continue through the weekend, as it is MD weekend!!!–which for those who know me, is my (and my husband’s) very fave time of the year. Our annual Fake Family Reunion. It will be our first (and only) vacation since last year’s weekend, and this year means a whole lot more 🙂

2) Mack has continued to shove stuff up his nose–I pulled out a 2+ inch of cheese recently which was pretty gross, and have also found pieces of what looked like a dead ant. Gross. perhaps I should try to just tape his nostrils shut, and force him to breath out of his mouth….

3) Please continue to pray for my friend Kris, my friend Marty, and also–please pray for this genetics team. That they may find answers to a long-awaited question, and may be able to save lives–maybe even my own–one day.

4) Finally—To Mike B. and Cassy: I met Mike through my ex boyfriend in college. We were acquaintances mainly, never really good friends or anything but would often chit-chat when we saw eachother. My friends and I always called him “pretty mike”. His wife Cassy, I’ve never met, however via Facebook stalking, I can imagine she was also called “pretty Cassy”, as she is beautiful. Clearly they were made for eachother. They look like a J. Crew catalog cover.  Mike and Cassy have been extremely supportive to me and my family–donating money on our website, and more recently, sending us money so that we can take a proper honeymoon. I know you’re reading this, and probably hating this, but I just want people to know how GRATEFUL we are for you both, and how amazingly gracious the two of you are. I wrote this to Mike, but its something maybe everyone should live by–I guess it just goes to show you that people come into your life only briefly sometimes, but perhaps they were put there for a reason.  I think of this statement often, as this was how I met my husband–12 years ago at a college party that I attended with my ex boyfriend. And now Mike and Cassy. Bless you both. (and Tommy too). I pray that one day someone (maybe even us) will pay it forward to you. You certainly deserve it. 🙂 Also I wish you lived closer, because I would love to see Tommy and Mack play together. They can start a 2 man football team!

Happy Memorial Day weekend everyone!!

*Call me True Religion, cause I got some designer Genes, baby!!*

…Sorry. I’m totes a medical celeb diva now.

this is a picture graph of WES testing. lol. This is like the worst pic I've ever seen. Can anyone understand this?! I just felt like this post required a picture.

this is a picture graph of WES testing. lol. This is like the worst pic I’ve ever seen. Can anyone understand this?! I just felt like this post required a picture.

5 thoughts on “Designer Genes

  1. Hey you! Love your blog! Being your nurse when all this first started, I’m sad that I never get to see you on Seidman 3 anymore. But I love being able to keep up with you!! So glad you are doing well. We miss you on the floor below! 🙂 Best wishes!!!

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