It's been just over six months since we got the diagnosis, and almost six month since Marian started treatment. This time last year, almost exactly, I was in shock knowing Marian may and likely has a fatal genetic disorder. I was carrying her around everywhere because she couldn't stand. I was so afraid. I sent a lot of emails.
When we got the diagnosis, I felt filled with fear of what the next six months would bring, would it only be getting harder, sadder, more heartbreaking from here? Would this time be one of the good times, when she could still smile, still eat, still move, was still here? When we started the experimental treatment six weeks later, I felt filled with hope with what the next six months would bring, would she be walking? talking? doing algebra?
And now, here we are, a little frazzled but still standing and feeling tough(ish). Marian started saying her first two word phrase, "hi dada" and tonight was walking around the living room pushing her doll stroller saying, "bye dada," (I think I'm noticing a theme). She loves to cuddle and crawls in my lap and says mama (the best). She's learning body parts and can identify eyes, nose, mouth, hair, ears, feet and tummy. She can even say a few of those words.
She's doing "fast walking" on the treadmill during physical therapy, and gets up to 1.4 mph with her PT facilitating her hips so she won't take a tumble, all while dangling in a safety harness. She is starting to navigate walking up and down steps with help and is even pushing herself around on her bike. It's sometimes hard to remember that this is still happening.
I've been told by NPC parents that when they got the diagnosis, they couldn't picture their child going through the regression - such an innocuous word for something so horrific. It seems so removed and not possible, like it's going to happen to someone else but not your child. It feels like that a little bit for Marian - I try not to let my mind go there otherwise I'd sit in a dark room eating m&ms all day, but it still creeps in every now and then. She still has NPC. It's still fatal. There's still no cure.
What does this mean for her? It means she's doing really amazingly well for now. Her latest hearing test was stable, no new hearing loss. Her belly is enormous and we'll do an ultrasound in October. October will also bring a return trip to Chicago for a full work up and also at Children's Hospital Los Angeles. Emily can't wait to go to the hotel in Chicago and she is "counting sleeps" until then.
At 18 months she was assessed cognitively at a 13 month old level and her speech even lower. I'm nervous to see what this comes back as. We notice a lot of improvements in this area, but is she at a 2 year old level? I don't know.
The last month has been so busy, like super, super busy. I've learned how to build a website and email publicists. I still never blow dry my hair (I wish I could blame that on NPC, but let's be real, I'm just really bad at that).
Emily is doing amazing. She is so awesome in every way. She is so empathetic, protective and loving. She is still only four, and I know this is can be hard. I had to take Marian for a lab draw and I floated the idea by Emily of going and she could wait in the play area. Let's just say I've had better ideas. Emily started hysterically crying because she was afraid for Marian to get poked. We didn't go that day.
Instead, I brought Marian alone yesterday. Marian toddled around the play room laughing and smiling, loudly saying, "MAMA" and pointing out different things to me. The same room we waited in time after time for her lab draws to get a diagnosis - back in the days when the lab orders were so extensive I had to give her a lot of water to drink beforehand and break the draw into two or three trips, picking the most important and critical to do first. Back when the receptionist would wait for me to race over after work and their closing time to pick up or drop off a sample cup so there wouldn't be one more day of delay, because her life was on the line - and still is.
It was strange and nice to be there without the panic and the fear. To watch this happy and healthy girl smiling and playing. Well, I guess, the panic and fear are still there but there's a lot less of that and a lot more of things like love, gratitude and hope. When it was time, I brought her back into the room for the draw. Marian started eyeing the chair nervously and crying when she realized what was up. But then, she leaned back against me, cuddled her blanket, relaxed her body and let out a big sigh and didn't cry anymore. I sang her a song and then it was over. I'm wondering what did I do that made her sigh and relax instead of scream and throw up like she used to - and I think it's because on some level she knows this is what it takes, and she wants to be here and is just full of love.
We are calling this website Hope For Marian since that's our personal story, but this is about more than one person, it's hope for NPC. For Brynne, Kendall, Parker, Johnathan, Emerson, Hayley and the hundreds of other kids all with similar stories who are fighting for their lives. And my heart is with the undiagnosed families all over the country and world right now who are scared out of their minds as they are trying to get answers, and they aren't coming fast enough, who have never even heard of NPC but are going to be sat down in a medical office soon and be told that their child is slowly dying from it. We are all racing against the clock and trying to get there in time.
I feel like I've just turned around and it's been six months. For the next six months, I'm filled with a lot more hope. To see Marian come to life is like being dangled over the edge of a cliff about to enter a free fall and then being pulled back to land. Our adrenaline is still going and we're pretty freaked out, but we are grounded and so grateful. I drink so many Diet Cokes now, it's not good. I miss the 90's when everyone thought Diet Coke was good for you.
Thank you so much for your support and prayers for Marian, it means the world to us and please keep them coming!
Marian and friends at her surprise 2nd birthday party (for all three of us) - some very special friends
later that day at the surprise party, because sometimes you just need 20 minutes of quiet with 8 kids under age 5...and they did too