Half way.

A couple of long days, but not too stressful. I am super grateful for the new peds radiologist. He's been really great about working with me, listening to my concerns and the radiation techs- who have known us for years, have been wonderful.

Lily's day started out fasting- since they try to get good images of her belly and that's where the adrenal tumor would likely grow back- it's better to not have a lot of extras in there. We all know how much Lily loves food(what's not to love?) it is a minor challenge. We all tend to get Hangry - so we sat down and went through old baby pictures to distract her. Of course as we sit there, she's sniffling, coughing and says her throat hurts. So just like her mama- she gets sick for scans. Which other than worrying about the breathing and coughing- what do you want to do when you feel sick- lay around and sleep. Not in a cold, hard, loud, tube- but we take what we can get. As we looked through pictures, I found the one that always sticks out in my mind. This is one of those pictures that always makes me think- wow, was that big old adrenal tumor already there?

But we can't wallow or participate in shoulda coulda wouldas. We learn and go forward. Which is why we scan. There is a lot of anxiety surrounding scans and one of the reasons many clinics won't do it- they feel it causes more stress than benefit. I think it is an individual thing- like anything. This is one of those times genetic counselors and a good support staff is instrumental- they help people decide what is right for them in this area. Some find the scans too stressful and  pay attention to symptoms and have things immediately checked out. Since we have been doing this cancer drill awhile- and over many generations- there is some merit to both. Ideally the routine that works with the person's needs and coverage- is ideal. I didn't scan for a lot of years. It was too stressful, but over time I have seen first hand how catching tumors early has definitely advantages in survival. There are still so many unknowns, but I want the best chance for my kids. There will be tumors due to type and location that really not much can be done without damaging quality of life. Those decisions suck. I have one of those decisions in my head. You make those calls at the time you have to with the information you have. 

We get to MRI around 10:30. We fill out the papers since they last a year and it's been a year. I don't think I've never not filled out the papers- but its one of those things- it's almost automatic. I read the questions out loud so the kids can answer. The are you currently pregnant question usually gets fun responses. 

The tech hands Lily her scrubs and takes the movie Lily brought to watch in the groovy MRI goggles. She changes and we go over the plan. There's a lot to scan. She has a dedicated brain and abdomen as well as the full body for LFS screening. They try to minimize the time as much as possible but really want good images- so we know it's gonna be a long day. She said in between each set she will give Lily the opportunity to get up and walk around. I know this adds on to the overall time, there are coils and gear that has to be taken off and reset each time she moves- but I appreciate them taking good care of her. 

off to the races. 

The goggles before they put them on- with headphones, under the head "cage"

Overall, Lily is in the scanner about 4 hours. The peds radiologist comes and talks to me after the first round, it all looks good so far and then each subsequent round. We talk a bit about LFS and things I've noticed with Lily and through others' experiences just to help him understand my concerns. He has a 10 year old and it shows, he is great with Lily and great with me. I appreciate the extra time and care. Most MRI facilities are really busy, Tripler is exceptionally so(lots of active people and dependents) and they are down 1 machine. They brought in a portable out in the parking lot- so patients periodically come in, change and head out back. It reminds me of my very first MRI when I was 15- in the parking lot of the hospital. 

Lily comes out a few times- they had to run a couple sequences over- which in MRI world means starting over. The cold is definitely a factor and I feel bad for her- but she is doing well. We walk up and down the hall and I rub her back. Then she gets a bit of a reprieve- the system has to reboot and so she plays on her iPad for a bit. As she goes back in, the doc comes and we talk about her arm. We've been watching a spot for years in her humerus. We kinda forget about it in between scans and then it's like ripping a scab off- oh I forgot about that. This is one of the gray areas. You find things that could be normal weirdisms you'd never know about- or it could be the beginning of something. In LFS we tend to err on the side of it could be something and out is better than in. But that works well for superficial lumps and bumps- once you get deeper- you have to start weighing benefits and risks of digging around. He would like an Xray to check. I used to freak out about X-rays- but I know that it will give him different information than the MRI and it is better to see bones with.  I ask- if it doesn't really show anything are we going to come back and look more with MRI and should we do a more dedicated MRI since it has grown a couple millimeters and she is in there and we still need to look at her arms? And this might be the point he starts wondering what he got himself into with us. So I explain- we grow weird. That certain cancers seem to pop up at certain ages in LFS. On a normal person I would be ok saying"it's a cyst" and maybe monitoring it- but in an LFS kiddo with a history of 2 cancers already- I would be more comfortable with more information especially if we need to decide to biopsy or remove it. I explain how the sarcoma in her leg and my arm really never concerned the docs and it was at my insistence they were removed. It happens a lot in our group of mutants. And with hormone changes and this age- I need to know more. I want her oncologist to have more information. He orders the dedicated MRI. The tech tells me she saw the Mallory's were on the schedule and took leave for the rest of the week. I joke she should know- Lily's not the easy one- she shoulda taken Bella or Kiera. 

Lily is done just in time for her hearing aid appointment. Which luckily is just down the hall. We enjoy a little Chopped while we wait for the audiologist. She's getting her new streamer so she can pair her hearing aids to blue tooth and use them as headphones. It's actually pretty cool and she is stoked. 

rocking out to Katy Perry. Roar.

We head back to radiology so we can look at the images with the doc and squeak into the Xray. It's now after 5 so the hospital is quiet. I like this time in the hospital. And I know traffic is a bear- so no rush to sit in it. I feed Lily a pop-tart from the vending machine because I know she's starving. The spot in her arm is bigger than I like. Definitely want to discuss this with her onc. She is fascinated by her insides. Her left adrenal looks good, a couple other areas I was concerned about look good. I feel positive overall. We head over to Xray. 

The tech wants to know which part hurts. I tell him they saw a spot on MRi and we are cancer screening. His bedside manner instantly is more genial. We finally are done for the day. I read half a book, my head isn't splitting, I've managed stress and lily did exceptional. I thank her for doing this and she gets to pick dinner. 

Chili's- Root Beer and games

We get home and pretty much crash. I had been patting myself on the back for how well I handled it-and that I was feeling pretty decent and then the exhaustion hit. I woke up Thursday feeling pretty awful. The debate- do I go back to bed or get on with the day? I went for a walk and called Monica for a mini mom melt down. I wish she was next door still- but telephone works. She reassures me that I'm allowed to be exhausted and tired and it will be fine. Sometimes you just need to hear it. I take it easy as possible until afternoon activities. We take Phillip to work out, Kiera to voice lessons, a quick stop at Walmart for necessities and a movie for Bella in the scanner- she's a huge Divergent fan and the Allegiant was out on DVD. We pick Phillip up- drop him and Kiera off- they will take Lily over to Aunt Theresa's for dinner and Bella and I are off to Tripler. 

1st non sedated solo MRI- rocked it!

Bella is milking the hunger thing- and suffers from my nervous bladder. I think we stop at every bathroom. We fill out her forms, change her into scrubs and she and Ducky are ready to go. Ducky gets a quick check in the metal detector and is approved to ride along for the MRI. 

Bella and Ducky- a special stuffed comfort made by her friend Sophia. 

I like the quiet of evening MRIs. Except for the construction and the noxious chemical smells that are coming from down the hall. Fortunately they only work until 6 and it fades when they close the door. The tech pokes her head out and says Bella is doing amazing. She even passed up the first break.

Bella and Ducky

 She comes out a couple times after that and we walk down the hall and get a drink. She is so much more relaxed. I'm glad it wasn't as bad as she feared. She wants to see outside, which I find fascinating. We walk down the hall and I warn her it's dark out- so we can't see much. Overall she was pretty quick- less than 2 hours in the scanner. She is the shortest one- so that helps. Phillip is gonna take AWHILE. She picks Taco Bell for Dinner so we make a run for the Border. We chase that with a McDonald's ice cream cone. I thank her for going through it. I know it's not normal, easy or fun and I appreciate it. I'm impressed- I knew she could do it- I'm glad she did so well. 

Proud of this Kid!

Tonight is Phillip and tomorrow morning Kiera. Phil has Phillip duty- which after an overnight alert shift last night means he'll probably get a good nap in the waiting room. 

I don't expect to hear about the kids results right away- hoping maybe to catch up with the radiologist on Saturday. I'll give him time to make the formal reports and call the oncologist next week. Thank you for keeping us in your thoughts, I definitely appreciate it.

Mini Mutants and the Future of Mutant X

I remember sitting in the clinic during one of Lily's chemos when the oncologist came in with my kids' genetic test results.  I always operated under the assumption that they were positive- but it is a very complicated issue.

I'm sorry but they all are positive for the mutation.

We knew Lily was(despite prelim tests saying otherwise- ALL tests can be wrong) because we were sitting there in pediatric oncology. I knew it in the core of my being. I knew it when I saw the lump on her leg and that first stupid little prepubertal sign.

I was really really hoping for at least one to not have it.

And this is the point it gets tricky.  Of Course I didn't want my children to have it, but in my mind- it didn't really affect their individual risk or how we faced the journey together.  Scientifically- I know this is not a supported argument. But how I feel cannot be contained by a library of scientific documents. I would never ever choose this FOR my children, but without it- we all cease to be. Until there is a treatment, the only prevention is to select against the being. Genetic tests are a complicated affair. Complicated emotionally, complicated scientifically- overall one big complicated conundrum wrapped in an enigma served with a side of quandary.

I knew I had the mutation. When I was 18, my parents asked me if I wanted to be tested- I said no thanks. Even at the age of 18- my gut instinct reflected the complex nature of genetic labeling despite the fact that I did not stop to consider future emotional, physical, medical or insurance ramifications. All big players in the debate. How can anyone be expected to emotionally handle knowing their chance of getting cancer is like 87%? Physically- one would think this would help facilitate appropriate medical care- but I would encourage you to ask the next medical professional you run across if they've ever heard of Li Fraumeni Syndrome.  Many times it merely facilitates your ability to advocate for yourself more specifically.

I am in a support group for Li Fraumeni Syndrome. I'm a firm believer that social support by others who are going through similar trials can make all the difference in a person's journey. I also believe that healthy debate and contrary view points are instrumental in this journey.  I am not always right. And certainly what's right for me is not right for someone else. But sometimes you can get lost on your journey and if you have others experiences to guide you- it helps you make sure you are on the right path. Ultimately we never really now if the path is right, but sometimes the time passes a little better with someone by your side, pointing out things you may have not noticed otherwise.

One of the big discussions is about Preimplantation Genetic Determination. This is essentially in vitro fertilization with embryos that are selectively free of the p53 mutation.  This method can cost tens of thousands of dollars, but to some, this is an investment that will save them on costly cancer related medical bills down the road. The savings in emotional trauma could be priceless. The other option is is prenatal genetic testing. The genetic test can be done by amniocentesis and then the option of what to do with that knowledge is up to the parents.

A friend recently forwarded me an article about a family who received a 50 MILLION DOLLAR settlement because their child was "wrongfully birthed". Meaning they had the prenatal genetic test performed(for a different mutation), the results came back that the baby did not have the genetic defect when in fact he did. The family's counsel argued had they had the accurate results, they would have aborted the child. Mind you the child is now 5 and severely mentally and physically handicapped due to the genetic "defect".  SO in my mind- thankfully that child does not have the appropriate cognition to hear his parents repeatedly say that he was not wanted. Hopefully he does not have to feel this on a daily basis, but on any level it makes me sad and very angry.

This is not about abortion. This is not about mutations or science or God.  Like I said- genetics are a very very complicated issue. They are us on the very most basic atomic level.  I wholly support individual rights and freedoms to make their own stupid decisions. It does not mean I agree with it. But for me- when you step into the arena of parenthood- by accident, intent, willfully, maliciously or ceremoniously- the game always changes. You are no longer responsible for 1 human, you become responsible for more. You become responsible for the future, your future, their future, society's future. If you want to genetically design your child to be whatever way you can handle or love better, that will reduce reuse or diminish some burden on you or society- that is your prerogative. You will also learn the very real lesson in parenting- you are never fully prepared for parenting. Sure you want to give yourself the best foundation and in the case of selecting against having a harmful genetic mutation- maybe for some this is their best bet. Others will argue to let nature take it's course. I'm pretty sure we've already modified nature with radiation, technology, GMOs and vaccinations- but that is another subject for another time.

Every person needs to look at what they can handle. Parenthood is like one great big eternal surprise party. You never know when the diaper is gonna leak in the Burger King play place,  or when the flu will strike during vacation, or when a tooth gets chipped or a bone broken, or when cancer might strike or alzheimers or diabetes. All of which can be genetically "given" or acquired through lifestyle.  Or both.  But people have to choose their journey and if pre-selecting embryos gives them an ounce of control in a crazy situation- then that's what they have to do. At what point do we continually hold everyone else responsible for our choices?

I rolled the dice. And it has been hard. At times parenting feels like an exercise in continual disappointment. And it has been complicated by cancer- of which my children all are at higher risk for. I would not change them. Of course I still hope they don't have to deal with cancer and I sure as heck don't wish it on them. I would never choose this for them. But more often than not- the adversity that changes our journey is our reaction and perseverance to do just that despite and unchosen obstacle.  But there are so many things that we can not control- even if we try to. I would not go back for anything and select against them. And I am sure glad my parents did not have the knowledge, science or means to even think about selecting against me. And if I have at all touched your life in even a small way- then know in It's a Wonderful life fashion- that is how I feel about this. Not everyone is equipped for this journey. But I also have tons of friends who have children with cancer who had no family history of cancer. I know many women in my support group who are the first in their genetically non mutant families to be mutated. You never know when that surprise party is gonna be thrown. I know cancer. I've lived cancer. This diabetes thing- crazy. Many of my friends have kids with celiac(guess what- also a genetic mutation....)Alzheimers-scares the bejeezus out of me. Metabolic and genetic disorders that result in children who require 24 hour care- break my flipping heart.

I chose my children by nature of how I live. By accident or By intent.  They are mine. They are part of me, good and bad. They will be able to curse me and my mutant genes as I have cursed those that came before me. And we will be joined by the experience and the strength to overcome it. You control what conditions you can or want to. Their genetics was not something I wanted to dabble in, unless you count the fact that I chose their father to contribute half of his DNA.  Ever notice how bred dogs tend to get mean or end up sterile?  Nature will always try to find balance. SO although we struggle with the ramifications of our imperfect genes- the imperfect mutants those genes code for have shaped my life in such a way there is no other journey. The journey will be difficult. There are no guarantees in life- mutated or not. Some of those difficulties will be due to a mutation, but some of the gifts they receive will be too.  Those gifts might just be the key. The same science that offers the opportunity to eradicate mutants before birth holds the promise of helping them live long happy important lives.  I will try not to judge others or claim they don't love their children as much as I do because they approach it differently. You never know when these differences will intersect on a path and the friend you travel next to might be the very one you oppose and yet the journey together might just be the solution. 

Sisterhood of the Travelling Mutants

I  never understood the sorority mentality. The fuss over clothes, hair, secret language, initiations, exclusivity. Until I found my Sisterhood of Travelling Mutants. The initiation is brutal- it is essentially months of cocktails(of the chemo variety) and shaved heads, speaking in code- words like neutropenia, hereditary tumor suppressor malfunction, prophylactic mastectomy or oophorectomy speckled throughout our lexicon.

I never valued the importance of sisterhood until I needed it most. A motley crew we are- scattered about the United States- and even across the oceans. The requirement to join is simple- merely be living with Li Fraumeni Syndrome, no minimum cancers required.

Years ago I joined Facebook while Lily was in Chemo. I did not join as a way to keep in touch with people or get back in touch with people- it was merely to help a friend farm some land to get to the next level. 2 weeks later after calling Phil at work and imploring him to harvest some pumpkins because I had to run errands- he held an intervention. I deleted the app and went about my business. My friend list had grown, putting me in contact with people I hadn't talked to in years. Sometimes this is a good thing. Sometimes.

 I noticed people were in groups and started searching for relevant groups- like Li Fraumeni Syndrome. There was none. So I made one and invited my family. I found the only other support group for LFS on a site called MDJunction and invited them over too. Pretty soon there was a group of people who got it, asking relevant questions and giving amazing advice about how to live with hereditary cancer. Mostly it was just lending an encouraging word after yet another surgery or rough bout of treatment. It was virtual hand holding over fears of scans that could change your life. It is a community of friends. A community of mutants. Some do not like the term mutant, but we wear the badge of distinction with pride. Ours is not the average cancer journey.

Over the years our group has grown. There is an occasional controversial topic, but all in all it is the most supportive, understanding group of humans I have run across and I am honored to be among them, despite the devastating reason we are there. None of us would be who we are without the adversity we've faced.  We have moms who had cancer while pregnant then faced it again with their children. We have moms who have multiple kids going through treatment- at the same time. We have siblings who share the horror of being breast cancer buddies. We have young women making tough decisions about mastectomies since they've already had more cancers than most people's grandparents. We have people who are the last surviving member of their family. We have people who have lived through dozens of cancers and been told multiple times- go home, get your things in order, there is nothing else we can do for you. We have lost friends and mourned with their families.  All of this through a virtual world.

When we heard there was going to be a conference in Boston for our special brand of mutants- the messages started flying. Plans began to take shape. We all know how short life is and opportunities like this are few and far between. I made plans to go solo- gasp! The mere thought of a few days with women who had been my life line through breast cancer and all of Lily's ups and downs was exhilarating. Women I could vent to when well intentioned friends said the wrong thing, again. Women I worried about when their kids had rough patches and scans. Women who could not seem to get a break from cancer after cancer or had to deal with continual medical incompetence. We look out for each other, cheer each other on and most of all handle each other with careful honesty shrouded in sarcasm and laughter.

I had lined up a room for us to crash- true dormitory style. And then the cough hit. Suddenly I needed these women more than anything and the hope of meeting them was flying out of reach. Yet they were the first ones I needed to tell. They were doing research before I even asked. They let me be me when I landed in that scary dark place of "tooma gloom and dooma" and they guided me back out. And they insisted that I go to Boston. I no longer wanted to go without Phil. I no longer felt like I needed the "me" time.  There was going to be another husband there- he actually used to work with f-15s- I knew he and Phil would get a long, it was meant to be. Between appointments and research and decisions- the trip became a beacon of strength. It helped shape the calendar and my mood.

As I walked into the bar at the Inn at Longwood Medical in Boston- I spotted one of my favorite mutants. We were fortunate enough to meet years ago in Maryland and she is like a sister. She tells it like it is, tells you to suck it up and put your big girl panties on but she also will make you laugh so hard you pee in your big girl panties. She will also be the first to call whoever needs to be called to get you an opinion or help. If you can't laugh through this mess, then all you have is mess.  She pulls me towards the table and I know everyone immediately- even though we have never met- we are family. A family brought together by circumstances we can't change. We barely finish hugs when more mutants arrive. It goes on like this for hours. Poor Kevin, Poor,  poor Kevin- a wonderfully nice chemistry major on his 5th day of work waiting tables there had no idea when he showed up that night- a room full of mutants would be his charge. I'm pretty sure he will never be the same- but then again neither will we. None of us chose this, but we live with it- sometimes gracefully- sometimes clumsily- sometimes very very angrily. I'm sitting at a table full of women- 2 husbands sequestering themselves to the end - in awe of us, horrified by our collective candor and trying to catch glimpses of the world series all at the same time. My cousin joins the party and I feel complete. We talk about getting all of our kids together- a merry mini mutant party. It never ever ceases to amaze me how sometimes the most horrible things are the very things that give you what you need. And these women- my sisterhood of travelling mutants give me hope when I am facing a tough journey. They give me socks to warm my feet in the chemo bay- a signed pillow to catch me when I need a rest, a charm with a compass to guide me and know that wherever we are- the others are only a call away. We laughed. We compared scars. We talked about hair and lack of it.  It was the family I've missed all these years. The Mutants took Beantown and I'm pretty sure Boston will never be the same- I know I won't be. And for that I'm grateful for LFS.

But with your history...

A while back, I discovered a lump in my arm. It was right next to a mosquito bite that was driving me crazy. I decided to keep an eye on it, but I knew it wasn't going to go away. I showed my neighbor who promptly said- yeah you need to get that looked at. I showed my husband who immediately said- it's not a tooma. But then he promptly decides he must do a thorough exam of all potential parts to make sure. I have several lumps and bumps. Some look like cysts, some scars, no one really knows. All I know is that at some point, with the p53 mutation- little things can become big threats.  It became the elephant in the room, the thing I'd get to if life ever calmed down. Right after I got around to losing weight and cleaning the house, managing the man-child's diabetes and scheduling Lily's next round of scans, all the while trying to get a nonprofit to run efficiently. A week turned into months and I realized- it was never going to get easier. It sure as hell wasn't going to get easier without an arm- so I needed to get in and get that bad boy out. One night Phil was taking inventory of the lumps and bumps and one on a less than sunshiny place somewhere on my backside seems to have taken a turn for the worse. Not ugly yet- just growing. One of the first bad signs. When he started looking at me that way- you know like you look at people who have worse luck than you- I scheduled my yearly exam and showed my PCM. Yeah, we should get that looked at by a surgeon. It's probably a lipoma, but with your history....

I schedule an appointment with the surgeon.  He's your standard run of the mill retired army surgeon. He's seen the glory days and now is still trying to do what he loves until it's no longer an option. He looks at the lumps and says. It's probably a lipoma. So I tell him the story of Lily's leg. I took her to the pediatrician- it's probably a lipoma. I took her to the surgeon- it's probably a lipoma. Please just take it out and I will feel better. You were right Mrs. Mallory, it's a plexiform fibrohistocytic tumor- a really rare slow growing(thank God) sarcoma, we have to go back in and get wider margins.

So at the conclusion of my story I can feel the surgeon's non impressed-ness. I stop and wait until he looks up from whatever he was thinking about. I look him in the eye and tell him- I know a lot of people with Li Fraumeni Syndrome. They all have lumps and bumps, they are always told- it's probably a lipoma. Sometimes they are. Usually they are rare sarcomas. I'm betting this is one of those. I want it out, I want clean, wide margins. He calls the nurse in with the schedule book. It's not urgent- so it will be a few weeks. I expected no less. He tells me it will be either him or the other surgeon, depending on what day of the week I choose.  I ask him which day would be better for a lipoma that was probably a rare sarcoma. He didn't answer. Yeah- I don't think there's a better day for that either.

The first available day is the day before Bella's birthday. It's not ideal, but then again- what is? Bella spends months planning a party, a cake- all of which I am to play an instrumental- hands on role in. I manage to whiddle it down to cupcakes for the class(I can buy) and going to see a movie. She is fine with that. The day of the surgery rolls around. I know it's minor- but it's like staging for the big event. The nurse finally gets me and takes me back into the corner of the clinic. We go into what seems to be a storage room for abandoned equipment and gurneys which also connects to 3 offices. One of those offices happens to be that of my genetic counselor. I poke my head in and say hi. She accompanies me into the next "office" which is actually a treatment room. Awesome. Fortunately it looks better than the ante room- but that's what you get with budget cuts.

We discuss problems with arranging future scans for screening me. I am introduced to the nursing student and the med student who will be "observing". The last time I had a student , he helped "observe" a huge scar on the back of my shoulder. One of the many reasons I was less than enthused to go through this whole process. The surgeon comes in and I won the luck of the more experienced, other surgeon. I'm pretty sure he's not a day less than 75. I reassure myself by thinking at least he's seen a few world wars and probably has some mad slicing skills. He also doesn't have the current filter for conversation that most surgeons develop and he proceeds to tell me all about his family and their polycystic kidneys and kidney transplants. Got it doc- my "probably lipoma" is not an organ transplant.  So I tell HIM the story of Lily's adrenal tumor and leg sarcoma. I tell him about the p53 mutation and what it means for sarcomas and that I know a lot of LFS folks. I look him in the eye and ask him to take wide margins, don't nick it and get all of it.

He then launches into a discussion about numbing and earning patient trust for the students. As he is doing this- he is numbing my arm. I don't feel a thing- not a poke, not a burn. Trust earned. The procedure begins. I don't have a clear view, as I am on my back and two grown men are hovering over my extended arm but they are dissecting away. Still dissecting. Still dissecting. He pauses to let me know that if I start to feel anything- let him know right away. I feel the tugging and pulling, but no pain. Until he gets the electric lightening machine(electric cauter something or other) and sticks it in my arm. It felt like someone stuck a sparkler in there so I calmly point out it's burning. He adds a bunch more numbness and proceeds. I know it's deep. They finally get the little bugger out. It looks like a tumor. It's fatty looking, about the size of a grape tomato. I am slightly unimpressed and comment that it should at least have teeth or hairs or something.  He plops it down on the tray and cuts it open. I knew then...it was probably not a lipoma. Surgeons(mass generalization- but probably deserved) have slight God complexes. If it was just a lipoma, he wouldn't have needed to see what was on the inside- it would be lipoma-y. They close my arm up and go about removing my other bump. Yeah- the one on the rear. I've had four kids. But having 3 men gathered about your backside is a bit intimidating. At least they were armed(no pun intended) with more magic numbness. That took a couple minutes, so I knew- it was probably nothing.

 I then get to be on my merry way with surprising little direction. My GC grabs me and gets Phil so we can discuss more fun topics like mris, prophylactic mastectomy, doing the best we can to keep me around as long as possible. At the prophylactic mastectomy talk, Phil flinches. He love the ta-tas. I haven't discussed this with him, as a self preservation technique. If he thought his moments with them were numbered- I'd never get a moment of peace. Although I'd have to say this whole experience did the same thing. He is a bit unnerved. Boys.  We spend the car ride home discussing how it's not really necessary, right? I joke that at least they are replaceable and I could even get an upgrade-or at least put them where they were before I nursed 4 kids....He did not appreciate that.

I wait out the week for my post op appointment. No waiting this time, the surgeon waltzes right in plops the pathology report on the counter and says- well it's a sarcoma. We sent it off, they couldn't identify it here. I wanted to say no shit sherlock- at least you could have told me that I was right. But instead I said- Ok, so what now? Can you come back in tomorrow to meet the surgical oncologist? Well I guess I COULD, but I am here now- is he available today?  Well he's very busy, I can see if he's available- there might be a bit of a wait. I wanted to say- More or less wait than the 2 hours round trip- headache of parking and the checking in process?  But instead, I said- I can wait. While I waited I got 2 sets of stitches removed, read 100 pages, talked with 3 nurses and my genetic counselor and finally scored a meeting with the surgical oncologist and his nurse. We start to plan the billion scans that need to be accomplished for the next surgery.

Again I repeated my history, again I illuminated them to the finer aspects of limiting radiation exposure. And reminded them 2 more times after CT's and xrays were mentioned that- unless there was an urgent need- could we find a non radiological way? At one point the nurse stopped and said- Wow, you know a lot about this syndrome. It is so great that you can advocate for yourself. I know the translation of that is that I am a difficult patient. I get that. But despite the fact that it may be quicker and more convenient to blast everyone with radiation- I believe that the effects are not seen until much later. I believe that we mutants are more sensitive than most and our much laters are much sooner than the average bear's. I know I can't avoid radiation- but I limit what I can. I also try to limit the amount of time at the hospital, for any reason. Plus- there is a fine line between just being curious and being able to do something about it. Many of those scans have the potential to find things there is nothing you can do anything about- that is why there is no set protocol. To each their own.That is why I wanted to be involved in Li Fraumeni Syndrome Association- to help others who may not know to advocate for the care they need and deserve with this syndrome. It sucks. It sucks now that I have to spend my time dealing with this BS instead of helping others. And then the other part of me says- at least it's me and not one of the kids. And then I get really mad because it shouldn't be anyone. But then again with our history....

What to Expect when you are Expecting Cancer

About 1.6 million people will be diagnosed with a new cancer this year. According to the American Cancer Society, that number doesn't even count basal and squamous cell skin cancers. 577,000 people are expected to die of cancer. That is one person a minute. Many of those cancers can be prevented by not overusing alcohol or tobacco. For some people, those who have family histories of cancer or mutations that are known to result in cancers- the preventative measures are bleak. What is abundant are the questions, the worries, the risks, and the unknowns.

Will I get cancer?
When will I get Cancer?
Is there anything I can do?

For those with known mutations, like in the p53 tumor suppressor gene-also called Li Fraumeni Syndrome, these questions can often lead to an overwhelming sense of futility. I've heard of ladies being told they have merely months to live- so they cash out their life insurance policy, run up all available credit cards and live it up for months- travelling, partying, living. Yet when those months turn into years, suddenly they are faced with a new prospect- Living on borrowed time, and a bunch of debt. Also what many non mutants call, life.

Everyone at some point faces a life altering, spirit moving moment. A moment that forever changes the path they were on due to a change in the expectations for the future. That moment came for me when my daughter was diagnosed with adrenal cancer. I spent most of my life knowing that cancer followed me like an unwanted shadow- sometimes leaping in front of me- a reminder of the darkness that envelops when you are consumed by it. I never pretended that it wouldn't touch me- I just chose to live the moments I could until it did and not waste those moments worrying that it would.

But then there were these big green eyes asking me- why? And her brothers and sisters wanted to know why too. As often as I told them it wasn't there fault- the little voice inside my head screamed- of course it's not- it's yours. The gene after all came from me. A gene that had a 50/50 chance of hitting them. I would never point a gun at my head or theirs with those odds- why was I cavalier about these?  Because there are no certainties. I was in my 20's and perfectly healthy. I had seen many incredible places and experienced many of life's wonderful treasures- one of which was falling completely and totally in love with my best friend and becoming a mother. Like the hopeless romantic- I believe that love conquers all and that I would definitely choose to love and have lost than not love at all. That is the same choice each person makes for themselves. There is no right answer, just truth. I look at my children as opportunities to love, not endless opportunities for loss. When your child is severely hurt or diagnosed with a major illness- your mind goes to the possibility of the endless abyss that is losing a child. You are then faced with a choice- to live life with the shadow of loss- or live life with the potential for greatness.

Facing a future with cancer is no different. There are days when the shadow of the abyss creeps closer- the days that are filled with scans and preventative screens. Those days are when the rattle and hum of magnetic imaging machines are silenced by the internal whispers of worry. Days where lumps or bumps or fevers pop up that are nagging darkness threatening a storm. You could ignore these steps, but everything and everyone tells you the storm is coming- your best bet is to catch it early and wait it out. Sometimes it is nothing. There is celebration. Sometimes it is definitely not nothing. It is impossible to not feel the weight of the finality of cancer. It is impossible to deny the pain, emotional and physical and the scars are permanent. But so are the lessons. So is the reaffirmation of life. We get warning bells when others are silently taken. The path is not easy- but it is what we make it. If we make it what we expect- that may be cancer- if we are open to receiving the gifts that are unexpected- we may get much more. And sometimes you have to be careful how hard you look for something- because you may find something you didn't want to. If you are expecting cancer- sooner or later- you might find you have cancer. If you expect to live- sooner or later you might find forever is shorter than you thought and sometimes when you expect to die you might just discover an amazing will to live. That is what you can expect, when you are expecting cancer.

Li Fraumeni Syndrome Support Group

Li Fraumeni Syndrome is caused by a mutation to a tumor suppressor gene. In even the best case scenario- a mutation here is not a good thing.  p53 has been called the "guardian of the genome" and plays a HUGE role in making sure cancer doesn't go haywire. It makes sure DNA damage gets noticed and repaired,it makes sure the cell isn't reproducing like a bunny while damaged, and if it can't get a cell repaired- it makes sure the cell dies. It's a pretty cool thing. Except when you don't have it. Then you have p53 envy, you find you have a huge risk of getting cancer- and not just one cancer- many cancers over your lifetime. Kids who have the p53 mutation get more cancers than those who don't and I'm not the first to say- nor will I be the last to say- Kids should never, ever get cancer. It's just not right. That fact, especially when the tumors are brain or adrenal,  is actually one of the BIG flags to doctors that a family might have a mutation like the p53.

I learned about Li Fraumeni Syndrome in the late 80's, early 90's. My brother had just been diagnosed with a brain tumor, months after my cousin had been diagnosed with a brain tumor. An aunt and an uncle were also diagnosed with cancer during these months. Our first thought was- stop drinking the flipping water- but then an amazing article hit the newsstands about these doctors in Boston who were studying family cancers- especially brain tumors. My grandfather died of a brain tumor- so my mom grabbed the phone and started making calls. She talked with a young doctor named Frederick Li who sympathized with our situation, but my brother passed too quickly to be helpful to their studies- there was no biological material. It was mentioned that if my dad were to get a brain tumor- that would be an interesting case study and please let them know. 3 years later, my mother had to make that call. My father was tested, he had the mutation. There were many sleepless nights spent discussing the implications for me and being tested. They let me have the choice. In true 17 year old fashion- I said- um No, thanks, can I go out with my friends? I didn't want to know. I wanted to live, I didn't want to be shackled with the burden of knowing that I was going to die of some rare painful cancer. From what I saw with my dad and brother- knowing vs. not knowing didn't change the outcome one darn bit. That harsh reality came crashing down around me in 2008 when my 3 year old was diagnosed with adrenal cancer. I thought for sure she had a brain tumor. I had gotten a degree in molcular biology, I studied genetics- we talked about Li Fraumeni Syndrome- I never processed that adrenocortical cancers were one of the main syndrome cancers. I had done my research. Before it was Li Fraumeni Syndrome, it was called SBLA- but not in any circles that I was in. It was a wikipedia article that I stumbled on when I was looking up adrenal hyperplasia that brought that to light. It happened to be the day before my son's surgeon called with a referral to an endocrinologist for his pancreas injury-I asked her about my daughter's symptoms and told her our family cancer history and she gave Lily a referral to endocrinology too. This after 2 pediatricians told me not to worry about precocious puberty in a 3 year old- it could happen.

So I called the doctors that studied my family in the 90's and I asked what to do for my other kids, I wanted to know the benefits of testing them. They were supportive and helpful and I also learned about an upcoming conference the following year. It had been decades, but my assumption was this was so rare- there weren't very many other families out there. I wanted to be there. I wanted to meet the others. I wanted to see if they learned to laugh through the tears like my family does- because sometimes laughter is the only medicine.  I wanted to see what progress had been made and where things stood. I wanted hope that my children wouldn't have to watch me die from cancer and I sure as heck don't want to see any of them go through it over and over. At this conference I met others who wanted, like me- to help support each other and work together to find better treatments, screening and ultimately a cure. We are tired of watching our families suffer. We want to help bring together all the different facets of knowledge, research, and experience with this syndrome. We want to be the link the connects the disease to the cure. We are that link. It will take time, and sometimes more time than those with LFS are given. I was so saddened to hear that a lady I met at the conference recently passed. It was agonizing to lose a friend in December who I met because of this disease. But these were two amazing, strong women. 2 women who brought so much love and light to those around them and who both had so much more living to do, but couldn't because of LFS. Since we started in 2009, we have hit lots of bumps and several new cancers in our group. That is the nature of the beast. But through people with Li Fraumeni Syndrome is a better understanding of cancer and through this understanding will be a cure!  If you are interested in donating time to a great cause- check out our support groups at Facebook- we welcome help with open arms. There is one for those with LFS and one for Friends and Family.  But most of all I have to thank my monkeys and my husband who have dealt with a pretty messy house and a scattered mom- but do so gracefully so that I can try to help create something that will do so much good.

https://www.facebook.com/groups/90503981891/