Our Journey Begins

I'm not sure where to start our story. There are so many places to begin and all of them painful to recount. I'm not even entirely sure what we could possibly consider the beginning of the story. I guess I can start with "we decided to have another baby", our third, our last.

We discussed everything we thought that there would be to discuss and decided to go for it and we did. I got pregnant quickly and all seemed well. We had our 12 week ultra sound and everything was fine. We had our 20 week ultra sound and were having a healthy baby boy who we were naming Charlie. We had a preeclampsia scare somewhere in the 2nd trimester and had another ultra sound everything was fine except I had mild polyhydraminos (excess amniotic fluid). No big deal really I had the same thing with Henry our second child. Then at 32 weeks I had an ultrasound to check the fluid levels, that's when things got scary. They found that the ventricles in Charlie's brain were enlarged. I didn't really understood what that meant other than anything involving brain was scary to me.

My ob referred me to a high risk OB and I went to see her. She said a lot of scary things, various syndromes, various things it could be. The only thing she could say for certain was that it wasn't just a variance of normal. Something was definitely wrong they just weren't sure what. They took blood to test for some common infections that could cause enlarged ventricles and I tested negative for all of them. I was offered an amnio but I didn't see the point so I declined it. Another ultrasound showed that my mild polyhydraminos had gone from mild to moderate. We decided I would see her once a week and have twice weekly NST's along with a weekly ultrasound to measure the ventricle size. I was also referred to a pediatric neurodevelopmental specialist and sent for a fetal mri.

We had the MRI done at Children's Hospital. I was the only adult receiving services there so it was odd. I didn't realize at the time that Children's Hospital was going to soon become our second home. If I had maybe I would have asked for the grand tour instead of trying to figure out my way around when I had a sick baby. I am getting ahead of myself though. The MRI was freaky but I made it through. The specialist met with us said except for the enlarged ventricles everything in Charlie's brain looked fine. He gave us some paperwork on hydrocephalus and discussed things like developmental delays and possibly needing a shunt. He said the same thing the OB had said that no one would know anything until he was born and we could get a better look at him.

The rest of my pregnancy was uneventful. A lot of appointments long NST tests as he always moved away from the monitor. My polyhydraminos went beyond moderate and I became very large and very uncomfortable so much fluid was unable to lay down at all. It was not an enjoyable end of pregnancy but it probably wouldn't have been either way the third trimester is never that fun.

The day Charlie was born was a really sunny day and our scheduled c-section was delayed. We got there at 8am and just sat around waiting and waiting and waiting. We knew this was the day everything would change and we would find out for certain what was going on with Charlie. We knew that there would be a team of pediatricians in the operating room with us waiting to examine Charlie. We also desperately hoped that it was nothing that he just had some enlarged ventricles and that was it. We were finally taken back for the c-section and I was prepped. The surgery started and it was very intense. It took a lot longer than normal and they had a really hard time getting him out.

When they pulled him out I couldn't see around everything I just caught a glimpse of a very blue baby. As it turns out though he wasn't blue from lack of oxygen he was born covered in bruises. His face was one giant bruise and he had tiny little bruises all up his arms, legs and trunk. They could not get his blood sugar to stabilize so they took him to the NICU to get stable. Once they got it stable they sent him to us but only for feeding and after he was done being fed he was expected to go back to the nursery. The only problem was he wouldn't feed. He wouldn't even attempt to latch on so we syringe fed him expressed colostrum. After his blood sugar would normalize it would quickly crash. The blood work also showed that his white blood cell count was through the roof. They took him back to NICU and placed a central line, got him on iv fluids, put in a feeding tube and started running blood tests to check for infections. They figured he for certain had an infection and they were almost 100% that it was CMV. They started him on three different antibiotics.

Days went by while we waited for results and he became jaundiced. He went under the bili lights and we waited, and waited. Slowly test results started coming in...all negative. They noticed that his spleen and liver were enlarged and that confirmed in their heads that he had CMV. The result for that test took a while in the meantime they did all kinds of examines on him. They did an ultrasound on his spine due to a sacral dimple, they did a chest x-ray as he was needing oxygen and they needed to know why, they ultrasounded his liver and his spleen. They did an MRI on his brain to look at his ventricles and brain structure. They gave him morphine to sedate him and it did not go well. A few hours after the MRI when he was supposed to have woken up and come out of sedation instead he stopped breathing. I won't recount that story as it was awful and I can't think about that moment in time without becoming a mess.

Long story short no infection all tests came back negative. His MRI showed enlarged ventricles and a smaller cerebellum and a brain bleed. Most likely due to birth trauma and his platelets being too low to help him clot. They gave him a transfusion to help clear up the brain bleed. They planned a repeat MRI for when he was 3 months old as he would be more developed by then. They consulted with the hematology department at children's hospital in regards to the spleen and his high white blood cell count and low platelets. At this point it all gets fuzzy there was a lot going on and Charlie had a lot of things going on in various systems. What it came down to was Children's wanted a bone marrow biopsy but the hospital he was at couldn't do it on a baby but there wasn't a doctor at Children's that had privileges to come do it there.

While they were trying to sort that out I kept googling his symptoms and two things always came up CMV which he tested negative for and Leukemia. I asked his doctors about leukemia and they told me it was unlikely as it was so rare especially rare to be born with it. As it turned out Children's disagreed with that and asked them to run a blood test to check for blasts in the blood. When his test came back with 2% blasts they had him transferred to Children's to the cancer floor. We were moved we talked to a lot of doctor's and what they basically said was they suspected JMML and we needed a bone marrow biopsy.

We were there for three weeks and a lot happened. What didn't happen was a diagnosis. What didn't happen was the biopsy results coming back. They told us he most likely had JMML but that he also most likely had Noonan's Syndrome which meant the JMML would clear itself up and no treatment would be needed.  Finally they decided to let us come home they had finally weaned him off oxygen and he could go home on a feeding tube and they saw no reason for us to hang out there waiting for a diagnosis. Because of his recent oxygen requirement pulmonary came in to do a quick exam and some blood work. While we waited for that I talked to the home care department about the equipment we'd need for tube feeds etc.

That day was such a great day Charlie was coming home and finally we had been able to get him to latch on and breastfeed I was so excited that things were looking up. Then all of a sudden we weren't going home. We were being transferred downstairs and he needed to go on high flow oxygen asap and downstairs was the only place they could do that. I wasn't even given time to ask questions he was moved and set up on high flow oxygen asap. Finally someone talked to us and gave answers. Charlie was in respiratory failure and the carbon dioxide had built up to dangerous levels in his body. The high flow oxygen was to clear him out. So we were not going home, he was not allowed to nurse, he was not allowed to continue to try bottles. He was on tube feeds only. Xrays showed healthy lungs so it was determined his O2 requirement was a neuro issue not a lung issue. Something in his brain wasn't telling him to breathe hard enough.

This has gotten quite long and I'm still not where I want to be in the story so I will fastforward. A week later we were discharged. He went home on oxygen and a feeding tube and had a buttload of weekly appointments but he was home. He was home and we were happy. The schedule was rough as he had to eat every three hours no matter what but we made it work. There were a lot of doctor appointments and it was rough but we made it work.

He saw his pediatrician every week to have his head size measured one week she felt it had grown a bit too much and we were sent for an ultrasound and a meeting with neurosurgery. The ultrasound showed his ventricles had become dangerously enlarged and that combined with his recent bouts of fussiness/vomiting and constant sleeping meant he needed surgery to place a shunt ASAP. I left Jeremy and Charlie at Children's while I went home and packed up. He was being admitted immediately.

The next day all his doctors came to examine him and clear him for surgery. He had a blood transfusion and a platelet transfusion to get his #'s where they needed to be.  All his doctors missed that he had the beginnings of a cold. He went through surgery and we knew getting him off his breathing tube may be hard as he already had an oxygen requirement. After surgery they came to find us and let us know surgery went well, the shunt was placed but he was moved to ICU because he couldn't come off the breathing tube for the moment. When we got to ICU they told us they had a hard time venting him and it turned out he had a giant mucus plug in the way. They had it tested and it came back positive for rhino virus...the common cold. The surgery made the cold worse immediately and was going to make it harder for him to recover from both. Being in ICU was rough as whenever he came out of sedation he would fight against the breathing tube which would cause it to clog up with mucus and then his stats would start dropping, they even lost his heartbeat completely once.

All that going on and still the worst part was when his oncologist came in to let us know that finally all his tests were back. He was exactly 2 months old and finally receiving a diagnosis. They found a mutation in his CBL gene which confirmed that he had JMML (juvenile myelomonocytic leukemia). Not only did they find a mutation it was a brand new mutation, I'm still not sure what that means for us. They also found he did not have Noonan's syndrome. That's when my world came crashing down. They kept telling us it was so likely for him to have Noonan's that we had placed a lot of faith in it. Sure he would have the issues that come with Noonan's but it also meant that his JMML would go away on it's own.

Instead he did not have Noonan's which means he will need a bone marrow transplant and have a 50% chance of surviving. I've never been one of those "bad stuff can't happen to me" sort of person. But never in my entire life would I ever even consider that my baby would be born with a rare form of leukemia. So rare that there are only 25-50 new cases...a  year. That doesn't happen to people that isn't something you go through that just doesn't happen. So here I am typing his story while he is still at the hospital recovering while his dad stays with him. I'm home with our other two kids hoping that one of them is a bone marrow match and that he will be on the glass half full side of 50%. I'm not sure how it all came to his or how we got here. All I remember is lying in a dark room and hearing "your baby has enlarged ventricles" and now here I am googling survival rates for babies born with cancer. Who knew that was even a thing? Babies being born with cancer?

Everyone keeps applauding my strength in all this but honestly I don't feel strong. I feel an absolute mess. I just keep going and I keep a list of questions to ask the doctor's and I advocate for him and we make plans for him but really I'm dying inside. Part of me asks why this is happening to me but mostly I ask why it's happening to him. He's new. He hasn't done anything, been anywhere or know anything. He has no bad karma to atone for there is no reason for this. There is no possible reason that he should have to go through this. I will give you hydrocephalus if he needed to go through that I will give you that. It's fixable it sucks but it's fixable. The breathing issues fine I will take those too. Feeding issues great bring them on. But cancer? Are you freaking kidding me? 2 months old and he's spent more time at Children's then at home and he's going to be spending even more time there.

I know this is long and I don't necessarily expect anyone to read this I just needed to get out at least some of his story before it becomes a big blur in my head and becomes full of more chapters of his story. I am praying that he has many, many chapters to come because otherwise why? Why would a baby be born with cancer, go through the hell of treatment only to not survive? I don't understand what the point is and I have a really hard time with that whole "there is a plan" thing. Because this is a really shitty plan if this is a plan. When he is 20 he won't even remember this part of his life it's not like he can learn or grow from it. The most he can do is use his story of cancer as a baby to pick up chicks and really I think brain surgery as a baby was enough of a pick up line story.