The Meaning of Mutant.

I am a MUTANT. But guess what? So are YOU! neener neener neener.

mu·tant  ˈmyo͞otnt/

dictionary.com

adjective

1. 1.
resulting from or showing the effect of mutation.

noun

1. 1.
a mutant form.

Merriam Webster Dictionary

NOUN

: of, relating to, or produced by mutation

OXFORD Dictionary

ADJECTIVE

Resulting from or showing the effect of mutation.
‘a mutant gene’

NOUN

A mutant form.
‘frequently only a small percentage of the offspring of mutants resemble their parents’

Cambridge Dictionary

NOUN

an organism that is different from others of its type because of a permanent change in its genes:

These mutants lack a vital protein which gives them immunity to the disease.

This mutant gene is thought to cause cancer.

figurative humorous I'm convinced he's a mutant - he's not at all like the rest of our family!

disapproving an unpleasant and frightening thing:

The result of these experiments will be a nightmarish world filled with two-headed monsters and other mutants.

So. Well those are the definitions of mutant from, you know, reliable sources. Because I'm just Jen. Me. The culmination of my experiences(many "highly associated" with my mutation in the TP53 tumor suppressor gene). AKA- LFS- Li-Fraumeni Syndrome. 

My family deals with hardship through laughter. Dark. Morbid. Hysterical. It's an acquired taste. It took Phil awhile. Many of my close girlfriends are forever scarred(remember scars are BEAUTIFUL- they show the battles you've won) by interacting with my extended family. Those who choose to keep me around- well are now family. Friends are family you choose. My mutant family is my collection of weirdos who happen to share the same mutation and snarky need to swear, I mean live life to the fullest. 

Words are precious. A single word can change the meaning of a sentence, the light in someone's dreams, how you perceive the world. Words like: cancer, scars, mutant. 

You have: CANCER. Your scars are HORRIBLE. I AM A MUTANT!

Newsflash- we are all mutants. Our DNA mutates over time to adapt to changes. Not all mutations are BAD. SO declaring I AM MUTANT, HEAR ME ROAR- is kinda like saying- hey check it out, the sky is blue. When your precious offspring toddles over and asks you WHY the sky is blue- well that's where shit gets real. My kids are not offended by the word, but I am also kinda shocked by what does or doesn't offend kids these days. Get off my lawn???

There are many many many mutations. Caused by many many many things. Not all are bad. Some are very very bad and contraindicated for this whole living thing we seem to enjoy- mostly. There are so so so many p53 mutations. There are so so so many OTHER mutations. We cannot predict the pattern of cancer or if these superior(in my opinion) mutants, will get cancer at all. The data pretty much says we will. I used to crave data. Now I say fuck it- I am not a number. BUT- do not interpret this to mean data collection is not important- because it IS. Research is so very important. Yet so many times, the researchers find solutions in the rare- the zebras, the unicorns. We are the rare of cancers. Half of all cancers have p53 mutations. We just happen to have one of these mutations in ALL of our cells. We are the key to solving over HALF of the cancer riddle. If we can LIVE long enough to get there. We are living LFS. 

There has been some dissent over the use of MUTANT. Someone compared it to using the N-word. As the less spectacular and whiter half of an interracial relationship providing interracial offspring- I cannot even go there. Because guess what- when I type- N-word, you know what word I mean. Now if I call a human that word- well that's rude and awful and despicable and sets decency back decades. Now if Oprah, Jay-Z, or Kevin Hart use the N word, well that is up to them. I can't get my kids to do dishes- I cannot possibly solve an issue like this in my blog. BUT that being said- no comparison- a lively band of mutants to generations of oppression. It's a word. You can or cannot use it to identify yourself if you feel it may or may not identify you. I've found that the merry band of mutants who identify with this M- word are my tribe. Their approach to cancering and life in general are very similar to mine. 

So- I polled my mutant friends and non p53 mutant friends on their associations of the word MUTANT. Mind you- I am an acquired taste and this is completely absolutely and totally biased. These are my people. And this is their voice. Words are what they mean to you. If they are empowering, embrace them. If they offend some, respect that. But always, always, always BE YOU. Mutations and all. 

What does the word MUTANT mean to you? 

-   Super awesome

• PURE FUCKING AWESOME BADASSNESS!!!!
• A family that I love and adore
• Not wild type
• Containing novel genetic information not inherited from parents
• The X-men  x 10
• someone who has a mutation
• Pure love
• Baddest form of badassery ever. 
• I am of course familiar with the word (Teenager Mutant Ninja Turtles!!). I guess I would say it is a being (animal, human) that has developed abnormally as a result of an external influence. But I don't think I have ever used the word. It seems like a very 80s word used in fiction.
• I am in a family of mutants so family reunion to me.
• Love
• Before i used to think X Men 😂... now I think mutant means some of the kindest, most compassionate, loving, admirable people I’ve ever met! Beautiful souls that’s what it means ❤️
• Inner Strength, resilience, friendship and understanding
• Dont want to crush into your positive vibes. Anyway...most time being a mutant means separation for me, and loneliness. The 10 Minutes a day virtually in Facebook for sure make a difference! But in real life, it makes me feel very lonely...
• Teenage Mutant Ninja Turtles
• I kind of think of "mutant" as normal, but the word tends to shock people. It's more acceptable to discuss genetic abnormalities by saying, "I have this mutation," rather than to say, "I am a mutant." Maybe it just sounds kind of aggressive or attention-seeking - something people say for the shock or laugh value? Mutation happens all the time, and I would guess that most people have at least some form of genetic mutation. I know I do... #ProthrombinGeneMutation
• Courageous badass super hero
• The key to the future of humanity 
• Friendship, connections, scans, fear, love, science, hopefully awesome super powers!
• A tribe trying to withstand this p53 mutation shit storm through love, friendship and a little humor.

Summer Break LFS style

Part of our summer routine is scans. With Li-Fraumeni Syndrome, we try to catch cancer early with the hope that we can treat it. Ultimately we hope to find nothing. We try to stay optimistic- we know lots of people who have LFS who don't have cancer or have had really good success catching tumors early. There is a certain amount of stress associated with this looming cloud- we call it scanxiety. It is real. It is vicious and no matter how much you tell yourself not to worry- you do. I get a little manic- trying to get things in order- just in case. Nothing goes wrong if everything is in order, right? Not exactly, but your mind plays these games because we are human and we have feelings and a need to preserve our future.

Before we can get the scans ordered, we need to have an annual visit with the kids' oncologist for the general clinical exam and talk about any concerns. There are a couple this year, but one of the good things about these appointments is that the docs are reassuring- most concerns fall along the "normal" kinda kid development curve but my concerns give them an opportunity to order more or less tests to rule out problems. The kids know the way to the clinic. Phillip and Lily are followed more closely because of his diabetes and her history of cancer. Unfortunately with LFS, once you have had a cancer, the chances of another one developing are much higher. Lily's already had 2. Sometimes we forget about the sarcoma in her leg because it was a lesser threat at the time.

 They line up for weigh in. A good math exercise- converting Kilograms to pounds.  I try to pay attention since I know I will need this information when we schedule MRIs. But my memory is a bit suspect these days.

 Then we pile into the treatment room for vitals. Our nurse was a saint and helped us out by managing to get all 4 kids seen at the same time. I appreciate this a lot.

 After vitals we wait in the oncology waiting room while the kids are seen in pairs. They meet with our oncologist, who will be leaving soon. I am very sad, she's been with Lily since the beginning of this journey. 2 residents also sit in. Tripler is a teaching hospital, but I also like to expose as many young doctors to our weirdness as we can. Some days I'm not in the mood- but I know how important it might be for someone else down the road just to hear- sure I've seen LFS before.

 Lily practices taking Phillip's blood. I warned them we will have to do bloodwork and a poke is involved. My kids all have my tough veins. Sorry about that munchkins.

 We LOVE special visitors like Lili the dog. This helps settle the nerves and pass the time. We talk about our other furry friends Bailey and Indy. We visit with our favorite nurses and child life specialists and docs. We miss them but also kinda grateful our visits are infrequent.

 Lily gets a bonus urinalysis this round. Love that she's old enough to handle this like a champ. Hate that she has to and that she mentions that this is one of the easier tasks. Some families do ultrasounds and other exams for their checks and get blood done every 3-4 months. After careful consideration with our docs, we agree with all our other visits and since we aren't actively monitoring problems- annual visits are good for now. It is a balance.

 Time for bloodwork. A quick poke by the lab specialists- they are the best- I've really never had a problem in the Tripler lab. I know this is stressful for the kids. It's easier afterwards when they all say it was easier than they thought it would be. Lily still has some pretty bad memories of bad poke experiences and a bit of PTSD but other than a stress tear that leaked out she breathed through the process and lived to tell about it.

 7 tubes for each kid. They look at the blood counts, adrenal hormones, and other possible markers of cancers.

Who gets a bonus 5 tubes drawn- this kid! Grand total- 33 tubes of blood from the kiddos.

 The car ride home is a good chance for nap time. I am glad we can take these steps, even if it is stressful. As they get older, it will be part of their routine and they will have the experience and tools to make the best decisions they can for their health. I would love to protect them from all the bad stuff, but some of it is just unavoidable. The best we can do is hope for some good breaks and deal with what we have to. Really it's true for everyone. Until then we have fun and try to do normal fun summer things!

Next week I have treatment and my Brain MRI- really hoping things are stable. The following week I have my PET scan and the kids each have their full body MRIs on different days. Each one will take about 3-4 hours. It will be a long week but hopefully will give us some peace of mind. We will take all boring and clear thoughts we can get!

Living LFS

Have you hugged a MUTANT today?

I have. 5 years ago I learned that not only did I pass a dreadful genetic mutation on to one of my children, all four of them had it. Just like me.  I think of how I never got a chance to meet my grandfather. How my children never got to meet my dad. I want to meet my grandchildren.

Our bodies don't fight cancer like "normal" people's bodies do.
Where we only have one cancer fighting p53 gene, Most people have two.

So cancers grow and grow and grow.

Sometimes two or three at a time. Sometimes in itty bitty children. Sometime more than one family member at the same time.

Families should stick together. They should NOT get cancer together.
Children should NOT get cancer.

Almost 80% of pediatric adrenocortical tumors have mutations in the tp53 gene.  Not only did Lily's tumor have mutated p53- all of her cells do. She is a mini-mutant. It means she is at much higher risk for developing cancer again. So we screen her and hope we will be lucky. That she will be lucky.

The other kids have the mutation. We have been lucky so far. We screen them and hope we will be lucky. That they will be lucky. Those that know us know we just finished this routine. It's stressful. But we do it because it's our best odds. It's a part of living with a hereditary cancer syndrome.

Lily's drawing of us walking. It's in our genes. 

50% of people with Li Fraumeni Syndrome, mutants- as we affectionately call ourselves for the mutation in our genes, will get one cancer before they are 30 years old. I was lucky. I beat the odds. I was 36 when I got my first cancer.  My brother wasn't so lucky. He was 15.

In 2009, I tried to find others with Li Fraumeni Syndrome online. Facebook connected us, this rare group whose sense of humor was as twisted and warped as their DNA. Yet I am convinced, these mutants exemplify the theory that adversity only makes us stronger. They are truly the most resilient, positive group of people I have ever met. I heard stories just like mine. I heard stories more heart breaking than mine. They researched for me, with me. I researched for them.  They cried for me, with me. I cried for them.  Then we laughed together. We grew stronger together. We talked about a need in our LFS community, a need for community. They all were Living LFS with me. We were Living LFS together.

We finally got to cash in years worth of virtual hugs at a LFS Conference in Boston.  Real Hugs. Real Mutants. People who understood what it was like to have Li Fraumeni Syndrome. And they were living with it. Even though LFS is rare, our stories are not. In the LFS community the stories are far too much like mine, generations of cancer, far too many kids with cancer, way too many cancers.

www.livingLFS.org

I am proud to be a part of a new organization that will focus on bringing mutants together to share those stories.  This organization is LivingLFS.  I am passionate about helping mutants find the information and support they need to make living with Li Fraumeni Syndrome easier. I sincerely hope that someday we can truly make an impact and support research that will change the fate of LFS. We are already planning our first mutant meeting in Portland this October! Just to keep life interesting between raising 4 mini mutants in a military family in between chemo treatments!

In order to do this, we needed funds for a meeting space and since the Team Mallory Shirt was such a huge success- we decided to give t-shirts a whirl for LivingLFS through a CustomInk Booster. And it worked! It's working! We already have enough support to cover the meeting room and even some snacks during the meeting. I am so proud of the community and support for mutants, especially since it is such a rare syndrome. If you would like to show your support for LFS and our mission of supporting those with LFS and raising awareness for this disease, please check out the link below or just tell someone if the subject presents itself that you know someone Living with LFS- because that could really make a huge difference to someone with LFS! Have you hugged a mutant today?

https://www.booster.com/livinglfs

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. 

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/ 

Getting poked is a bundle of fun.....or not.

Getting stuck with a needle sucks. Explaining this to young kids is futile. I'm not sure at what age this changes, because I have seen some adults act looney in the lab. Every person has their thing. Poking me doesn't freak me out, put me in a room with an mri machine and it's instant panic. I'm not judging, I'm just saying. After 5 months- it is not any better for Lily. It got better for a little while and then it exploded. My theory now is that it didn't really get better- she was just too sick to put up as big of a fight for awhile. Florence hates to bundle kids. But...when they are kicking and screaming, sometimes it's better to get on with the inevitable than prolong the suffering. I know one thing for sure after today- building up to the poke is WAY worse than the event.



Monday night Phillip declares he does not want to go to the beach with the boys n girls club. I tell him that is problematic because I have to take Lily into clinic, unless he wants to go...sure he tells me. Well- if you go, you have to have your blood drawn. Ok. Hmm, not the response I expected- this was the kid that Phil had to take in and hold for immunizations because he would go nuts. I ask him if he's afraid, he said no- the last time it didn't hurt. allrightythen. Well if Phillip goes, then we can take Bella and get her blood drawn too and he can help with the little ones since he is such a master now. Surely I jest.......and yet....



For those who may not be caught up- I am sadistic and like to have kids poked routinely so they get nice and used to medical procedures... No this is the big p53 mutation testing I've been talking about. So Kiera goes to the beach, and I take the other 3 into clinic. As I am unpacking the stroller- 2 bags, 3 kids there is a car waiting. I wave her off to tell her we're just getting here- and to carry on with trying to park. She is chatting with Lily and pulls off her cap to reveal a similarly bald head. Lily runs up to her and is in awe. Magically a parking space appears right by us and we walk in together. Lily is excited. A chemo buddy. This lady has breast cancer and is positive for BRCA family breast cancer gene. She is on her last treatment. In a 5 minute span we discuss everything from diagnosis to hysterectomies and I know in an instant, this is an impression that will stick with us both forever. It always amazes me how sometimes a complete stranger can make such a big difference and I must pass along that we all have the potential to BE that stranger. Sometimes we try to help and get shot down, but sometimes just a word or two can make someone's day.

I can tell by the look on Florence's face- that by my bringing along Phillip and Bella today, totally did NOT make her day. I feel bad, she always goes out of her way to make it easier on me and I just plopped a puddle of goo on her lap. And in true nightengale fashion, she already is coursing a plan of attack. She calls in reinforcements, get the orders written and starts the trying task of getting the kids taken care of. We start with Lily since her numbing patch has been on the longest. It starts off well and rapidly deteriorates- 2 cleanings of the port site later- she calls in help. In this 2 minute period- Lily is losing her mind. She's kicking and rocking and screaming. By the time Barb and Miss Julie get there- we get booted for some calm down time(asked nicely to take a walk) and they plan how to best handle this. Julie will entertain Bella and Phillip and prepare them for their big pokes and we will bundle Lily and get it done. She tells me I will not be happy with her for this decision. I don't know why everyone assumes I am the one with the problem bundling her. It sucks, I'd like for her to not be held down- but a half an hour of screaming in terror is every bit as psychologically damning- because in that half an hour she thinks she has a choice- when in fact she does not. So we get er done. Breathing does not work for more than 2 breaths, she will not allow herself to be distracted and refuses to consider alternatives- that leaves us with bundling.

As we finish- Phillip comes in with what is abject horror and the verge of a breakdown is glimmering in his eyes. He is holding a cotton ball on one arm and has another patch on the other. Oh mother fudescicle. A nurse I do not know is profusely apologetic and is herself on the verge of tears. She retreats and Phillip explains she tried- one didn't work, the next one she poked around and wiggled and it hurt. Now the pressure is back on Florence. We send him to work with Miss Julie while we just bundle Bella- who is now the true tough champ of the day who fought being bundled but didn't even flinch with the blood draw. Phil and I have often hypothesized that she has a disorder which causes limited physical sensation as she is one of the toughest little cookies we've seen. She does feel pain, but not like the others. She is quite proud of her owie and crawls up into the stroller- that's her sign for pau- lets go home.

Phillip is in Rainman mode. We now have to poke him for the 3rd time and he's not happy. This is pancreas boy who was stuck repeatedly- and had a feeding tube shoved down his throat twice and we won't even discuss the foley catheter- if you don't know what that is- be grateful. I'm out of patience and finally tell him to buck up and toughen up a little. I will probably be counselled about this later....Florence sticks him and he immediately jerks away leaving the vein to practically spurt blood out of his arm. Now he has to be held. Ugh. We again get er done. And now...we have to de-access Lily which is almost as much fun as the accessing part.

Lily's counts are rebounding so we don't have to come back til Monday. Florence will check her counts and then send us up to the ward for chemo. She must love us, otherwise she'd have them do all that on the floor- and that is why she is awesome at what she does. And she always tells ME what a good job I did, and then hands out toys from the treasure chest. Talk about someone who makes a difference.

Just keep counting....

Lily's counts are dropping. She bled last night with her shot, but mostly her attitude tells me. We're back on the cancer coaster of emotions. Up one second, screaming down the other side the next. Of course she's on a carrot kick, and technically she shouldn't eat fresh fruits and vegetables if her counts are low- but she's eating something healthy.....oh the conundrum. Last month was hot dogs- now she won't touch them- all she wants is McDonald's hamburgers- again can't eat out if counts are dropping. Phil made hamburgers the other night, she wouldn't touch it. I need to go to the commissary and get some of those frozen white castle ones, maybe she'll eat those.

Phillip and Kiera are at the Boys n Girls club for their spring break program. They get to go to the Sea Life Park today. This week I take them in to get their blood drawn for p53 testing. I don't want them to live in fear- but I want them to be careful. I'm keeping my fingers crossed, but each kid has a 50/50 chance of inheriting the mutation. Theoretically, statistically speaking- you would expect 1 of the other 3 to have it, but they could all have it or all not. It's like the penny flipping experiment in high school. Each flip is 50/50 chance- but you could end up with 4 tails in a row or 4 craniums or 2 n 2 or 1 n 3. Fun stuff.

Apparently something is broken and I have been enlisted to find the handy manny tool set......then I must clean the bathrooms.