Updated: Nov 4, 2021
On our way to Chicago for her 12 month assessment.
When I was little I was pretty sure I’d be on tv one day. My cousin Gina and I used to watch Adventures in Babysitting on the VCR and rewind the opening montage over and over again, jumping from the couch to the carpet, couch to the carpet, twirling around the room and wishing for the love of anything that my hair could hold a crimp. We also were pretty good at inserting ourselves into The Little Mermaid, Labrynth, and the Les Miserable soundtrack (although I don’t think this last one was fun for anyone other than me).
Not included in the list of childhood daydreams: NPC. What a bummer.
It’s been just over a year and I feel like I’m finally coming up for air. The last few months I hadn’t been able to remember what it was like, those first few months. Going back and forth to Chicago. Not knowing. Carrying my toddler everywhere because she could barely stand. And then we went back to Chicago last week for her one year assessment and I remembered. It was a dark time that was also filled with light. The darkness of NPC and the light of love, support and hope.
When we landed in Los Angeles from Chicago in October for Marian’s 6 month assessment, I had an email from a producer from The Doctors TV show asking if we’d be interested in being on the show. I borrowed a pair of shoes from my court partner, squeezed into my pre-baby pants, and wore a maternity shirt that doesn’t look like a maternity shirt (I hope) and we went for it. Emily and Marian could not have been cuter or sweeter walking out, and watching Marian’s story on the big screen hit home for me. This is big and this is important. Her walking out on the stage in her little pink dress felt surreal, like a parallel path to what we were headed towards. It’s a parallel path to what would be without the treatment and where we will be without a cure. What I see in other families with NPC who don’t have access to any treatment yet. Memorials for little two year olds, three year olds, four year olds. In wheelchairs, in hospital beds, not able to respond. I can feel this path as much as I feel grounded in the one we have. The path of holding Marian’s hand and talking to her quietly, wondering if she can hear me and only having my heart and instinct to guide me whether she can, because she can’t respond.
But with grace, luck and the hard work of many many people, this is not our path. Not today at least. Instead, I sat on a stage and watched her story on three screens, with the sound echoing across the room. A tiny toddler with a fighting spirit taking on a disease that is trying to take her: and thriving through it. Going under anesthesia every two weeks, a needle into her spinal fluid, a phenomenal medical team at Children’s Hospital Los Angeles and Rush University Hospital who are willing to fight for her with tenderness and tenacity.
And then it was the year anniversary of her diagnosis on February 28. And then it was time for her 12 month assessment in Chicago. I was so nervous to go this time. When we went in October the doctor said it really takes a year to see the best indications of how effective the treatment will be. There is so much about NPC that is not known and cannot be predicted. Where would Marian fall? The night before the appointment I only slept two and half hours, because I couldn’t stop thinking through all the horrible scenarios that could take this away from us.
The next day brought a very long day of assessments. A fibrocsan to test her liver - which came back normal. A cognitive/speech assessment, a motor assessment (not back yet), a swallow study (normal) and a neurological assessment - no limitation in eye movement observed still which is wonderful as this can be an initial major neurological symptom. During the cognitive assessment my heart stopped when they brought out the game Marian got stuck on last time - sorting shapes that were the same size and same color into the correct corresponding piles. In October it was too hard for Marian to even attempt. This time she did it perfectly, even making us laugh by pretending to put to put the circle in the square pile, looking up with a sly smile and saying, “nooooooo!” and then correcting it. My beautiful and huge hearted friend Jen flew in from Los Angeles to help me during the marathon of assessments on Monday. In the middle of the day she turned to me and said, “you are getting so much good news, “ and we really did! During the motor assessment she came up and whispered in my ear for the first time, “Marian assessed at THIRTY FOUR months for cognitive”. My jaw almost hit the ground. She is 31 months.
Some of Marian's results from April 2018
I’ve learned through this process that I can do a lot by myself, but I’ve also learned there are some things that I physically can do by myself, but it’s pretty miserable. Without Jen there on Monday I think I would have dropped. Right after my jaw hit the ground with the good news, the rest of my body would have followed from the mix of nerves and folding and unfolding that dang stroller thirty seven times in one weekend.
This time in Chicago there was a film crew from CNN/HLN filming an hour long episode about some of the families and doctors trying to fight back NPC. They filmed with several inspiring families and included little Marian as well during her Chicago visit. The episode should air over the summer and we are grateful to be part of it.
And now it has been a year and we have some answers that we didn’t have when we started. After our first treatment, I asked: when will we know if it's working? Will she ever walk and when could that happen? Will there be lasting damage even if it works? If it doesn’t work, what will happen next? Did we get it early enough, fast enough, will it work long enough, will money come in fast enough to find more? So I guess we don’t have answers to all of those questions, but we do to some of them. And in this new world of not having any idea what will happen, that is enough, and I am grateful.
What we know is this: all of a sudden, Marian has gone from being a baby to a little girl. She is sassy. She is strong. She is here. There is hope.