Today we woke up with a start at 1:30 a.m. Marian coughed in her pack and play and Paul and I had the same thought, please don't throw up. We unknowingly brought a stomach virus with us from California, and throwing up is not allowed within 24 hours of the treatment because of the anesthesia. The possibility of being so close to her first treatment and having it delayed - even by one day - felt like it would be a crushing defeat. It's irrational but it feels to have something like this so close, that if you don't grab it in time or hold on tight enough it might slip through your fingers and be lost.
This trip was difficult in a lot of ways. We are new to the NPC community and navigating a group filled with knowledge, history, support, hurt, hope and fear is very inspiring but also daunting. We are new to sharing our story publicly and it's difficult to know what to say sometimes. Am I conveying enough gratitude? Enough emotion? Am I going to say the wrong thing and be boring, upsetting? Or even worse make people not care, where they will get over the shock of Marian's diagnosis and essentially move on to the next shocking story. Leaving the 18-Month-Old Girl With Childhood Alzheimer's left as a memory of something sad that they read and destined to be forgotten. All I know to do is to share every step of our journey and hope that people will care.
After settling Marian back down for the night, we woke up again in the morning. This was better than the night before when I slept on the hotel floor as she threw up for two hours. We packed a bag of toys and left for the hospital. Marian had to fast because of the anesthesia. This was particularly hard for her as the day before and hadn't eaten much. We arrived at the hospital and waited for Marian's time. I of course forgot to charge my phone and had low battery while nervously checking emails from journalists interested in covering our story - which while it doesn't offer treatment feels like it extends its own critical lifeline in helping to raise awareness. If people know about Marian and NPC, surely they will care, right? Surely they won't say, "oh that again" or "too bad for her," leaving us powerless and floundering, another rare disease amongst thousands of others.
Our doctor's wonderful nurse and clinical coordinator stayed with us the entire morning since it was our first time. We weaved in and out of hallways, up and down elevators. Signing and initialing paper after paper I would never say no to. As I was signing paperwork for out of network consent, a question buzzed in asking how much we anticipate this costing us. The answer is we have no idea, but it's probably going to be a lot. Other families have said while insurance is often a battle, they ultimately do cover it. However, out of pocket maximums are always met each year, and ours is twentyone thousand dollars.
Emily was a champ jumping over tiles on the hospital floor which was like a human highway of bodies zooming and wheeling past each other. After registering we went upstairs through another waiting room and back into "the bay." A large room divided in half, the closest half to the door where the treatment is done, the further half a makeshift waiting area for patients with wall to wall windows with a view of the city - and with much excitement for Emily, the train. This is where we started to get nervous. Not as much for the treatment itself but what will come after. Is this going to work for Marian. Is this going to give her enough time to save her life. While the research is very promising it is not a cure. Will the cure come in time. How is this happening.
The bay/treatment room where Marian received VTS-270
We met with the anesthesiologist and our doctor again - a wealth of information in a field where most questions cannot be answered. It struck me as she was speaking with her team about bringing patients in from other countries for treatment who have no way to access it in their home countries: they are truly heroes in every possible definition. They are individual people banding together to save our children from a largely unknown rare disease, coming up against almost every obstacle possible: time, money, regulation, emotion, fatigue. There is no doubt in my mind that without their intervention Marian would have less of a chance. We cannot know whether this would make a small difference or large - and I hope I don't ever find out.
We learned this week that Marian has one gene destroying mutation and one more mild mutation. How they work together is somewhat unpredictable and again something I hope to never find out as it would mean progression. Heaven forbid. While this is unpredictable to some degree it does place Marian at a high risk for an early regression without treatment, as in easily within a couple years. To think of our daughter one day turning the corner and starting her path to the end is something I still cannot think about. And it is something I pray we will never have to build the courage to face because it is truly possible for Marian to stay ahead of the curve and survive and thrive. This is possible, is it probable? I think so, I hope so.
We walked into the treatment area where the anesthesiologist rubbed a substance on the gas mask to make it smell more appealing for Marian - key lime. Marian was calm in my arms and reached out tentatively to hold the mask. Emily had begun to cry a little while we were waiting, worried for her sister that she didn't want her to feel the shot. We had explained to Emily that Marian would be getting a shot of medicine in her back, like she gets at the doctor. The laughter and chatting between Paul, Emily and I settled in to quiet moments as we watched the start of the path to save her life take shape before us. I thought to ask, when will this start to help her? The answer: there is no guarantee that it will, but hopefully within a few weeks or months. The treatment does very well to halt progression but Marian is so young, early on and still developing so it is difficult to say. She will be the youngest child to receive the treatment. I guess I should now say she IS the youngest child to receive the treatment that we know of. There is only one other child of similar age and circumstance receiving the treatment, and she is thriving. But, ultimately, that is one other person and much of this is going to be wait and see.
Then it was time, I passed Marian to a doctor who she went to easily but I heard her fussing as we left. Then we waited. We were not alone and the coordinator sat with us the whole time, which was extremely calming and supportive. We talked through ideas of care for Marian. And then it was over, just a few minutes later.
We walked back to see Marian who had been able to stay in the clothes we brought her in, she looked like a little doll tilted back at a 45 degree angle sleeping peacefully on the bed, with her perfect little cheeks a little bit rosy. Emily - a superstar and hero in her own league - walked up to her right away to check on her and stayed by her side, a calming and protective big sister. The doctor hooked an oxygen mask onto Marian's face for a few minutes. A jarring contrast to the healthy looking little girl asleep in the bed, surrounded by medical equipment, fighting for her life.
Marian recovered very quickly and was able to be wheeled into the recovery room. The treatment team working together efficiently, kindly and smoothly. Emily stood by Marian's side until she started to wake up. I rubbed her arm gently, she opened her eyes and looked at me, and then closed her eyes again and went back to sleep. This was enough to satisfy Emily and she sat on the chair and kept guard over her sister while enjoying a grape popsicle a nurse brought her.
Marian woke up and we were able to hold her. She enjoyed some juice - two to be exact - and crackers, sitting mostly calmly in the hospital bed taking in her surroundings like she was in her crib at home. After about forty more minutes she was cleared to go home. Blood pressure, temperature and pulse were normal. We were warned she may throw up from the anesthesia (check on that one) and be tired and dizzy the next day, which can make coordinating flight homes a bit of a challenge. But, otherwise, she will be our sweet little girl. Our sweet little girl, sweet little sister, sweet little Marian who is one major step closer to surviving NPC.
