If I have it, there is a 50% chance my children have it as well, and my daughter's DNA will be first in line to be tested. While LFS presents us with some alarming cancer statistics, I feel at peace with this possible diagnosis. How could something this alarming at the same time be somewhat of a relief? It answers questions, and it promises myself and my daughter regular screening that could save our lives down the road. Perhaps for others in my family as well. Perhaps my daughter is going through this turbulence in her life now, in order to save mine later on.
Our appointment with Cancer Genetics has been moved to Tuesday. I have come to the realization that my having Li-Fraumeni Syndrome (LFS) and passing this mutation onto our daughter is a much stronger possibility. Still not likely, but a possibility now vs. "highly unlikely". It was explained to me that they will take blood from both of us but will only test mine for now because it is unlikely for LFS to begin in her alone. They draw blood, separate the DNA, and then separate the single P53 chromosome to test for mutations. It will take approximately 2 months for us to get the results. The cost of genetic testing is a big-ticket healthcare item, which is why we underwent thorough screening before we got to this stage. Well, we are here now...
If I have it, there is a 50% chance my children have it as well, and my daughter's DNA will be first in line to be tested. While LFS presents us with some alarming cancer statistics, I feel at peace with this possible diagnosis. How could something this alarming at the same time be somewhat of a relief? It answers questions, and it promises myself and my daughter regular screening that could save our lives down the road. Perhaps for others in my family as well. Perhaps my daughter is going through this turbulence in her life now, in order to save mine later on.
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I'm very happy that the MRI date has been moved up to tonight! Ahhh relief to get it out of the way. Doesn't change that nervousness I feel in the pit of my stomach though. I hope she does well tonight. Two hours late at night sitting perfectly still isn't easy for a 5 year old to accomplish. Gosh I hate those deafening sounds in the eerie dark room (yes I'm with her in the room). Okay enough being negative it'll all be fine and clear and yay - it'll be done and out of the way before March Break.
Some new advancements on the genetics front. I found out my tumor in my palate at age 16 was called a "Pleomorphic Adenoma". Generally a benign tumor and quite common. Here's more on that http://www.thedoctorsdoctor.com/diseases/pleomorphic_adenoma.htm
I got a call today as the Cancer Genetics team have decided to proceed with further testing for Li-Fraumeni Syndrome. This means bloodwork for myself and our daughter. The reason is because the tumor I had at age 16 actually had the ability to become a malignant soft tissue sarcoma over time. When it was removed it was benign. Here's more I found out about Li-Fraumeni Syndrome (LFS) "Individuals with LFS have up to a 50% chance of developing cancer by age 40 and a 90% chance to develop cancer by age 60. Breast cancer appears to be the greatest risk for women. However, less than 1% of all breast cancer is thought to be related to LFS. Individuals with LFS also have a high risk of developing multiple cancers during their lifetime. One study showed that 15% of individuals with LFS had a second cancer, 4% had a third cancer, and 2% had a fourth cancer. However, some people with LFS will never develop cancer." Excerpt taken from www.cancer.net. I've read that diagnosing LFS isn't as simple as it seems either. It is possible to have LFS but no mutation in P53 chromosome. In addition, a different mutation can be present in the chromosome CHEK2. However this particular blood test is only available through clinical trials at present. There are a number of factors to assess in addition to bloodwork before an official diagnosis is given for LFS. We have our appointment with Cancer Genetics on March 29 along with our daughter's follow up from March 1st MRI in the Oncology Clinic. "Why are you crying? You should be happy you're getting your way. You're doing a great job. The surgeon sent you the email that they're going to get her in sooner."
Because I shouldn't have to spend the better part of a month arguing her case as to why she needs to get in sooner than the original schedule. That's why. I got the call today from MRI and her date was moved up more than a month and it's in the Goggles room. Appointment is at 9:00 pm on March 1st. Victory. My email got an almost immediate response from our surgeon's secretary. Apparently my request of my daughter using "Goggles" is why it is difficult to move the date up. "Goggles" is essentially an odd looking set of heavy-weighted glasses with lenses that you can watch a movie through as you have your MRI. Back in September, MRI gave us a hassle, reason being we requested sedation with her MRI (that didn't happen but she did get the Goggles). Now it's the Goggles. Always an issue. Always an obstacle. So I had a talk with my daughter to get her stance on the whole Goggles issue. Her response was priceless and truly remarkable for a 5 year old. "You know Mommy that MRI machine is so noisy that it ruins the movie for me anyway. I can do it without the Goggles. I'm okay. I'm really good at staying still." The MRI that my daughter had last fall was just shy of 2 hours long.
I sent the email to the surgeon, his secretary and Oncology clinic to proceed with booking ASAP with or without Goggles. Now we wait a little longer. "It is now February 8 and I have not heard from anyone in MRI. Waiting 6 months post-op for a first look for a 5 year old who had a malignant tumor removed is unacceptable. This is no after care whatsoever at this point. We have made plans to leave for 2 weeks in March surrounding her after-care schedule. Who do I need to speak to to have my daughter booked in for an MRI this month? Thank you in advance for your attention to this."
Should I really thank in advance? Hmmm...I was always taught in business not to say thank you until it's done. I guess I'm still trying to be somewhat cordial. On Friday at 3:22 pm I was just arriving for my spa weekend away with my best friends. Just as I arrived, an email appeared on my bberry from my daughter's surgeon. He knows my growing impatience with the MRI delay and responded to an email I sent to his secretary. He was going to do his best to have the MRI moved up but he noted this was not critical with respect to her care. Okay. I left it alone for the weekend and enjoyed my time with my girlfriends.
I responded today as follows "Thank you for your email. We will eagerly await an earlier MRI date. I understand while not critical, my research indicates the highest probability of recurrence with PFHT is within the first two years. Thus it seems 6 months is still too long to wait for a first MRI post-op". He responded two hours later with another "We will do our best to move it up." I will always be cordial but I will never back down. We had our appointment with Cancer Genetics today at the hospital. I learned about mutations in chromosomes and learned a little more about Li-Fraumeni Syndrome (P53 chromosome mutation I briefly mentioned in a previous post). Here's some more information on Li-Fraumeni http://www.cancer.net/patient/Cancer+Types/Li-Fraumeni+Syndrome. Easiest way to understand it is if someone draws a picture for you (like the Genetics Counselor did for me). I'll try to explain - everyone born with this P53 chromosome - 2 sets identical - let's call them AB and AB. If you have Li-Fraumeni, you are born with A and AB (a mutation exists). If cells start to grow abnormally you've already got a mutation in P53 so you're basically one step closer to cancer than if you don't have a mutation to begin with. You end up with A and A and a tumor develops. P53 chromosome is a tumor suppressor so if your "coding" is off from the beginning you're much more susceptible to various cancers/tumors. Hope I explained it clearly enough.
Our Genetics Counselor decided that with my family history it is worth it to pursue this further. Here's why - my father had Colon cancer at 63 (this is more common though), my mother had non-Hodgkin's Lymphoma at 52, my aunt (mom's sister) passed away from Colon Cancer at 64, my mother's first cousin (my cousin once-removed) had a soft tissue sarcoma in his 30's, and, I had a tumor removed from my soft palate at the age of 16. They told me that this was benign - jeez I have no idea of any details. Nevertheless, a tumor in my soft palate was enough for the Counselor to take note. We have begun first stages of this lengthy process - medical records releases. Chances are my daughter does not have Li-Fraumeni Syndrome - it's very, very rare. Then again, so is her tumor. In the end worth investigating - this is medical science at it's best - someday we'll get there - preventative medicine. Quite a few people have asked me "what in the world is the hold up for the MRI??" (right - still no appointment for my daughter). So rather than dwell on the negative (hehe) I say "check my blog - it's all there and by writing it, I explain it once, otherwise I'll get angry rehashing it all the time". So here's the explanation (from my point of view and what I've learned thus far). I've come to realize that hospitals are very political. At times there are battles between the surgeons and the other departments. Other departments get annoyed and think surgeons act "God-like" so when they have power, they use it. Thus here we are stuck in the power struggle between our surgeon and the MRI department. Seems there is a head radiologist who places patients in priority for appointments according to what they see in the patient file. The only way the appointment can be changed is if the surgeon fills out a special request and takes it personally to the department head to have it changed. In December when we met with our surgeon he wrote "MRI 2-3 months". Well he meant 2-3 months post-op which would give a date of January for her next MRI. The MRI department read the date from the last appointment and gave her an MRI scheduled for beginning of April. Here we are now. I have spoken personally to our surgeon's secretary and to my "friend" in the Oncology Clinic and believe it or not, our very busy surgeon went personally to MRI with a special request to change, and the "head" person in MRI was not there to receive it. MRIs policy states the surgeon must personally take the request to change date down to the department. Now our surgeon has gone overseas and it must sit in limbo until the first week of February when he returns and tries again. Absolutely ridiculous. As his secretary put it "yes, it's pretty sad that this type of stuff takes away from him operating and meeting with patients". I agree. How can that not infuriate me? So now we miss the January MRI time frame in my daughter's post-surgery monitoring. All because of hospital politics and one department making it difficult for a surgeon to do their job. Stay tuned...
Someone came to me today with a problem. It seems someone comes to me everyday with a problem. I did my best to give good advice and then moved on. I try (okay I said "try") not to dwell on problems. Yes I discuss them, then I try to set them aside and put them away unless/until I need to deal with them. Why? I'm going to say it's because I spent YEARS dwelling on problems. But now in hindsight, I realize how tiny these problems were. My brain works in wonderous ways...it wants to dwell, dwell, dwell until there's resolution. Sometimes there is no resolution. Sometimes you just don't like a person no matter how hard you try. Sometimes you and your husband will never see eye to eye on a situation. Eventually you've got to accept that your kid simply isn't a sleeper. All of these little things add up and if they consume you, you will be a miserable person. And...miserery loves company. So more and more misery appears.
Back to my earlier point...I had a few years where my mind remained in that constant negative state. Then all of a sudden "bigger" bad things began to happen until everything hit me like a ton of bricks. Last week of August 2010, I break my foot. A few days later we get a call of my daughter's diagnosis of PFHT. A week later my son develops a full body Staph infection. A week after that my daughter has Scarlet Fever. I feel it all happened because of this simple reason - I was consumed by all the negatives that I no longer saw all the positives for years prior. My mind was racing about what I needed to do next and what I wanted to buy next and where I wanted to go next. I truly forgot about what was sitting right beside me. How in the world could I do that? I forgot about why I'm here in the first place. And what my purpose here is. I let go of my faith and forgot to nurture my spirituality. I found that less often, I told my children stories of old that they could learn from. This is what happened. I forgot to enjoy my life in the present. Truly enjoy it and not all the "stuff" a good life can bring. Shame on me. So...I'm trying now to enjoy the little things, and to stop dwelling on the negatives. It's hard work and I need to work on it everyday. At least now I have an awareness of it. |
Blog? What For?I've never had a blog...nor have I ever cared to have one until now. I feel I have something to write about. I feel I have something to share with the world. Perhaps it is yet another form of egotistic narcissism - my take on Facebook "status" posts, Twitter and all the other social networking websites. I guess the difference is that I'm not telling the world "going to meet my BFF for a coffee". I truly feel others can learn from my experience. I am certainly learning everyday. Let's see...so far I've learned to simmer my crazy spiraling of stupidity on stupid issues (haven't quite mastered completely omitting them from my life just yet). Not sure if I can re-train my entire personality and existence thus far. Plus I'm great at being passionate on stupid issues. Archives
July 2014
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