The Genetics of it All

Last week we met with a geneticist who is also an oncologist and specializes in genetic cancer. The goal of this appointment was for her to explain Charlies mutation to us and what it means for Charlies future. The geneticist is actually the attending who was with us for Charlies first 2 weeks at Children's and is the first person to say that he most likely either had Noonans Syndrome or similar. I was glad to find that she is still a part of Charlies case because she was a part of it from the very beginning and it helps when someone already knows Charlie and we don't have to give the rundown of his issues.

So basically what we have been told is that Charlie has an extremely rare genetic mutation. A germline mutation in his CBL gene. When I say extremely rare that is not an exaggeration. There are maybe 12-15 people in the world who have this mutation. At least that they know of. It has only been in the last few years that they have discovered this mutation and were even able to test for it. It's possible that there are more people out there with it they just haven't been discovered yet. This mutation is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). Some individuals experienced spontaneous regression of their JMML but developed vasculitis later in life. Charlie so far does not have the impaired growth or the cryptorchidism (which since he does not have now, he never will). It also comes with neuro issues.

The thing with Charlie however is that he has a mutation that has never been seen before. So a rare mutation that has caused a rare cancer and no one has any idea of what exactly will happen because it's never been seen before. Usually when a diagnosis is made they look through the literature and look at past cases how they were treated, how they responded, what symptoms there were etc. Well with Charlie he is the case study. In the future doctors will look through the literature and read about Charlie's situation and see if it applies to their patients situation. But for now Charlie is the only and he is the first which means we have no idea. They think that due to CBL causing neuro issues that his hydrocephalus is connected to the genetic mutation. Along with his low tone (hypotonia), breathing issues and the abnormalities in his brain structures. But that's just a guess. It's easy to blame it on the CBL because he has so many issues why wouldn't it be caused by the genetic mutation? But unfortunately there is no way to really know until more people show up with the same mutation and the same issues.

So basically what the geneticist told us is that they don't know. They gave me his genetics report from Harvard (fancy!!!) and explained how to read it. She offered me all the literature she had on the subject which is very little. Explained what other tests they are waiting on but really they know nothing. She did say she is very confident that Charlie's mutation is in all of his cells not just his leukemia cells. Since he is so affected and he has features that point to genetic mutation (features being wide spaced nipples, broad forehead, low partially rotated ears, wide neck, skin webbing at back of neck) then most likely it is in all of his cells which means we have a really good chance of not needing a bone marrow transplant. No guarantee, no way to know for sure but it ups our odds. Babies with JMML have the best odds if they are diagnosed before age 2, are boys and have Noonan's Syndrome. Charlie does not have Noonan's but he has a Noonan's Syndrome like disorder and as far as glimmer of hopes go I will take it.

Which means while he is facing a life time of problems, delays & disabilities he can survive cancer and be okay. If he has to have the transplant that's when we have issues. Radiation to destroy his marrow can drastically affect his brain and he's already delayed. Bone marrow transplant can leave him very weak and he's already weak (which causes his breathing issues mostly) so it's a huge concern.

I don't feel any better but I don't feel any worse. We have no answers but to be fair I can't be angry that we have no answers because there just isn't any. I'd love to demand answer and demand a second opinion but it quite clearly states in his genetics report from Harvard that he is the first of his kind. He is the baby that will provide answers for future babies.

Up next for Charlie is a swallow study to determine how much oral feeding he can handle & an MRI. The swallow study is this week and MRI is next week. This MRI has been looming over me like a dark shadow. His first MRI is also the first time he's ever stopped breathing and had to be resuscitated. This will be his second MRI and this time they know better and will have him on a breathing tube. Of course the first time he had a breathing tube he barely came out of it and the second time he went on a breathing tube he ended up in the PICU fighting for his life for 4 days. So needless to say while I am anxious for this MRI and excited to know more about his brain and what we can expect in the future I am scared fucking shitless that my baby will not survive such a stupid simple procedure. Or will end up spending his first Christmas in the PICU again all because of a stupid breathing tube.

I am trying hard to have faith but I have to be real I haven't been given a lot to go on as of late. Not only that but I am a bit leery of an MRI being done on the day the world is supposed to end. Feels like a bit of a dark omen but since i don't believe in the end of the world I am trying to ignore all that. I am trying to ignore a lot of things lately. Like how bitter and angry I feel about everything. How lost and alone I feel about everything. How having a baby with cancer is just plain fucking hard. I mean seriously fucking hard. Just the emotion and mental toll seriously works you over and leaves you feeling like you just went 9 rounds in a heavy weight boxing match.

This whole thing just feels ridiculous I mean rare cancer doesn't happen to you or your baby. It happens to people you don't know you just hear about on the news or when you read an article in a magazine. It doesn't happen to you. Considering that JMML happens to 3 in every 1 million children the odds are quite literally that it will never, ever, ever happen to you. But here we are, it happened to us. My baby is one of 15 people in the world with a stupid genetic mutation that really feels unnecessary. I'm just so sad.

When It Rains It Pours

I am desperately trying to be grateful for the good things in my life. I am trying to be grateful for what we have and not focus on what we don't. It's not been easy. On Sunday Jeremy fell asleep while driving and crashed into a telephone pole. Arianna was in the car with him. Everyone is okay but our van is totaled. We have insurance & gap insurance so the car will be paid off but we will no longer have a vehicle. I am trying hard not to focus on the fact that we no longer have a vehicle. I am trying to focus on the fact that everyone is okay and nothing else.

But it's not easy. It creeps up on me like "oh, well now I guess we can't get a Christmas tree" but I banish that thought and try and figure out if there is a tree lot close by so Jeremy could carry one home. There isn't so we are back to no tree but at least we will all be together this Christmas. Then there are the thoughts of how to get Charlie to his appointments. It's a big city we have a great bus system but taking a toddler & an immune compromised baby on the bus in Seattle winter (rain, rain, rain) really just isn't feasible. I looked into programs that will get us to and from appointments and they either require us to be on state medical (don't qualify) or be in some sort of treatment. If Charlie was getting chemo we could get transportation. But there is apparently no transportation for people in our situation. How does this happen? I will add this to my list of things i will provide for people when I win the lottery. Transportation for anyone needing to go to the doctor for any reason & a free daycare for siblings of patients.

Everyone is okay though. We are all here together. We don't have a car and won't have a car. We don't have a Christmas tree and won't have a Christmas tree. I have no way to get Charlie to and from appointments but we are all here and we are all mostly okay. I'm trying to tell myself it's all okay and it will all work out but I am a realist. Maybe we will all be okay but it rarely if ever just works itself out. So it's Christmas and I am struggling not to wallow in self pity and bitterness. But it's not easy. I can't help but feel like the universe just does not like us and is unfairly dumping on us. Maybe tho this is just karma and I've been a horrible person and I just haven't realized it. I haven't been perfect that's for sure. I'm not always kind or generous. I think mean things, I say mean things. I do my best but I definitely am not going to be considered a saint any time soon.

But we are all here. Charlie has cancer, we don't have a car, we don't have Christmas but we are all here and we are all as okay as we can be for the moment. I'm going to tell myself that's all that matters until I believe it because I don't have much else to go on.

Earworms & Random Thoughts

Komo 4 news came and interviewed us about Charlie. His story is being used to help promote a telethon for Children's Hospital that will raise money for their charity care fund. We are so blessed to have been approved for Children's Charity care as they will cover everything insurance does not cover for the next year. We still need to figure out how to cover $$ lost from Jeremy having to take time off even though he no longer has any paid time off left and things like the gazillion dollars in gas we spend going to Children's a few times a week.

None of that is the point of this blog post however. The intro to the news story was "baby fights for his life" and that has been running through my head all night. I know he has cancer, I know the survival rate is 50% and I know he's very sick. But the whole fight for his life thing just never really occurred to me. Every time I think about it I have to fight back tears because it's just a hard thing to imagine. He's 3 months old and this fight is ridiculous. A baby shouldn't ever have to fight for anything much less their life.

It really hits home that your baby has cancer when they are announcing it on the news. You don't really get to pretend otherwise anymore when it's all over the tv. I am glad we did the new story if anything it will help raise money for Children's and they mentioned donating blood to Puget sound blood center which is awesome since he has had so many transfusions and there is a good chance there are more in his future. But it's all pretty heartbreaking none the less.

I'm really struggling with this holiday season because all I want to do is enjoy my family and the holidays but there is a nagging thought in the back of my head that this may be the only Christmas we get with Charlie. I want more than one Christmas with Charlie I want at a minimum 45. I am putting in a request for a minimum of 45 Christmases with Charlie. We are trying hard to make this Christmas special. Not present wise as this is a year where we are struggling as a child with cancer isn't cheap (and really presents aren't what Christmas is about) but experience wise. I know that Charlie won't remember this Christmas but I will and the kids will. If it's the only Christmas that we get with him I want the kids to look back and remember the experience and the joy and the wonderment. If we get 45 more Christmases with him I want them to look back at this Christmas as a wonderful experience in the midst of our personal hell.

It's been hard balancing Charlie and the other kids. I want to be a supermom who can handle a baby with cancer and a toddler and a teenager but honestly it feels impossible. My oldest has been struggling and I've been struggling to help her. I'm looking into some support groups because I think she needs to talk to kids her own age and she just needs people who can listen to her who aren't distracted. I feel awful that I can't give her all that she needs and I try to be there for her but sometimes I am spread so thin it's hard to give her everything that she needs. I have a tendency to get wrapped up in my own feelings about Charlie that sometimes I forget that I'm not the only person this is happening too.

Here is to hoping that I can pull myself together for the next 20 days to make this Holiday season memorable and not just because it sucked. And here is to all my kids who are all struggling and fighting I think my new years resolution will just to be a stronger mom who can keep it together enough to help all three of them because they all three need me even if one is in a fight for his life. 

Hey Look We're Famous!

Well not really but we were on the news. No video yet but an article! Hoping they put up a video soon so I can save it!

http://www.komonews.com/news/local/N-Seattle-infant-battling-extremely-rare-form-of-leukemia-182454581.html

Random Acts of Crying

I remember back in the days of when Charlie was in the NICU I cried a lot. It was incredibly hard to be away from him. My husband kept trying to calm me down but I just kept trying to explain that it's a biological need to be near your newborn and it is physically painful to be away from them. I cried so hard that my eyes were constantly red and my head always hurt.

When he was transferred to children's and I could be with him day and night I thought maybe I could cry less. Then when I realized that they seriously thought he had cancer it wasn't just something on a list of stuff they wanted to rule out the floodgates opened and they haven't stopped since.

I manage to keep it together a lot of the time carry on normal conversations, go to the grocery store all that stuff. But the most random things set me off and it's hard to get it back under control again. Little things to songs on the radio that aren't even sad or just changing a diaper and just not knowing how many more diapers there are to change. Looking at his chubby tummy and his sweet little face it's hard not to cry. I'm going to feel like a real ass if he comes out of all this okay and all he knows of me is a mommy that cries all the damn time.

My 2 year old has taken to patting me on the arm a lot telling me that "it's going to be okay mommy". I sometimes like to think that maybe he knows something I don't know and maybe it really is going to be okay. I mean there are so few answers so far whose to say that the 2 year old doesn't hold them all?

From watching tv I've always thought you quickly get diagnosed with cancer, you start getting treated right away and that's that. I never realized that sometimes you just languish with no answers. I never realized there is a wait and see approach to cancer and you just hang out with it hanging over your head like a dark cloud never knowing whats going to happen. Not having answers is both a blessing and a curse. Not having answers means I don't necessarily have bad news. Not having answers also means I don't necessarily have good news.

I don't really know how to function while all this is going on. I don't know what is normal or what is okay. Is it okay to go out to dinner with your family for your birthday? Go out to dinner and enjoy yourself? Is it okay to take your 12 year old to see twilight and actually think it wasn't the worst movie ever? I mean my baby has cancer life is not normal but I don't know how to act or respond. We are just sitting around in limbo and I don't know if it's okay to RSVP yes to a Christmas party invitation. Because should you be going to a Christmas party when your baby is at home with cancer?

I sometimes wonder if all this would be easier to take if it wasn't cancer hanging over our heads. Cancer is what adults gets. Cancer is what children get but older children. Babies are not supposed to be born with cancer. That's not something that is supposed to happen. Cancer is not one of the things they screen for, cancer is not one of the things that they test for, cancer is not one of the things that they tell you your baby is at risk for. Folic acid doesn't help prevent your baby from being born with cancer because it's not supposed to happen. Charlie was the youngest baby on the cancer ward and the youngest baby that they could remember being there in a long time. They also hadn't done a bone marrow biopsy on a baby so young in a very long time. Because these things don't happen to 9 day old babies. 9 day old babies don't need bone marrow biopsies to confirm that they were born with cancer. That just doesn't happen. Lot's of things go wrong with babies, they are born with a lot of things wrong with them and I just can't help but wonder if it would be easier to swallow if it was something that we could expect or have lurking in the back of our minds as a worry. But no, it's cancer and cancer is the scariest fucking word ever especially when you are applying it to a newborn baby.

People keep telling me they are in awe of me because I have been so strong and I never know how to respond to that. Because honestly I don't feel strong. I carry around a handkerchief with me to blow my nose because I cry so damn much. Sometimes I just lay there and cry all night and don't even bother sleeping. I cry in the shower, I cry in the van, I cry so much that I wonder how I could possibly still have tears to shed. There should be some sort of lifetime limit so that at some point I can function like a normal person again and my 2 year old can stop reassuring me. I really do hope that one day I look back on this and realize how silly I was for crying all the time because I should have just listened to the 2 year old because everything was actually okay in the end.