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.