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Good Things

May 10, 2017

 

 

 

Marian is doing so well. Emotionally it's little unsettling in a bizarre way though. For all the small achievements or changes she is making is a realization that the gap of where she is and "should be" is larger than I recognized in some ways. It crept up slowly. I like to think Marian has developed the same way, slow and steady progress the whole time. And I do think she was born with mild NPC impact from the start, which most kids are not. And she has made slow progress this whole time, but I think while she was still making progress, it was starting to slow down.

 

There were so many times Paul and I felt like she was "on the verge" of a major breakthrough. She'd start to say mama and dada, sign for more and all done, say Grandpa, bye bye and thank you. But then these skills would just slip away. We'd try the prompt again a few days later and it would be gone. It was like trying to hold on to air, gone in instant. Sometimes the skills would pop back up here or there in a few weeks or months, but not consistently. I still don't think of this as a regression, rather some kind of learning delay or processing delay. I'm not sure what to call it or how to explain it, but it's certainly related to NPC. So while Marian does not have the typical NPC neurological symptoms that mark the disease progressing, she does have some developmental delays that mark the disease taking a toll in her brain.

 

My friend Pam and fellow NPC mom describes her daughter as, "taking off like a rocket" after she began cyclodextrin treatments. She was a bit like Marian, late to walk and talk and she began cyclodextrin at 23 months. She's now three and doing exceedingly well. I hope Marian will follow in her footsteps. It's scary to know that while we luckily received our diagnosis early, Marian has still been impacted. I also cannot explain it but my sense is that without treatment or intervention Marian would have started to see more serious progression within the next year or two. I believe now that we have diverted that course through some divine medical intervention.

 

This is all anecdotal, but I truly think Marian's progress is picking back up again. I bring Marian for reflexology weekly and she's received three doses of VTS-270. Last week Marian started greeting me with "HI!" and saying and waving "bye bye" when I left completely on her own. She's starting to ask for and sign "more" and "all done" consistently every time when she's eating, as well as pointing to where her sippy cups are kept and shouting, "BA" for bottle when she's finished eating. When you ask her a question now she'll nod her head yes in an exaggerated way moving her whole upper half of her body. And she's been shaking her head no for a few weeks no, crossing her arms and planting herself on the ground. To see all of these skills building on each other instead of one coming in while another disappears feels like a miracle. 

 

The other day the girls and I were playing upstairs. Marian was sitting on Emily's bed which is low to the ground. I went into my room and called to Marian that it was time to come downstairs. I expected to need to go in and pick her up and carry her to the steps like we usually do. I couldn't believe my eyes when Marian not only rounded the corner herself, meaning she slid off the bed herself as well - something she usually couldn't figure out - but she was standing up and holding on the wall and walking her hands along it to keep her balance. She was smiling from ear to ear. And then to top it off she scooted down our steps completely on her own for the first time. 

 

These are the little things I probably would be taking for granted otherwise, you don't know how much work and effort is involved in an accomplishment like this until you see a child struggling for it when it's not coming naturally. Marian worked in physical therapy for months to even get into the crawling position, then for months to be able to pull to stand, then for months to be able to cruise. Now Marian seems to feel so much more confident on her feet, she's moving around our living room cruising along the couch to a table to her toy bin, she's wanting to stand and walk more and while she's still not strong enough to stand on her own, her physical therapist tricked her a couple times and she held the position for two or three seconds. This did evoke a very firm shaking of her head, crossing her arms and refusal to stand for a bit afterwards though.

 

We've been completely blessed the last couple weeks with support from our friends and community. Marian and Emily's Nursery School hosted the most beautiful morning for Marian, asking kids to bring their bikes for a bike-a-thon pledge drive. It was so much fun and lifted our spirits with the sense of community and support from the incredible teachers and families. The school and families raised almost $4,000!!! We are saving some in reserves and we are going to donate the rest to the University of Pennsylvania's Million Dollar Bike Ride, which is matching dollar for dollar up to $50,000 for NPC research. Our doctor in Chicago is on the scientific advisory board and she will direct the money to an important research grant for NPC. 

 

We also are working with an incredible team right now to make a mini documentary about Marian and NPC to use to raise awareness about the disease. We met each other through a friend and we are so honored they are donating their time, talent and resources to help bring awareness.

 

Our cousins and very close friends (and the Hope For Marian twitter manager) also adopted a beautiful baby boy after four years of heartache and faith in their journey to expand their family. We love him so much already and Marian is smitten!

 

With everything going on right now with the budget to the NIH, specific proposed cuts to rare disease research at the NIH, health care, and the world it's especially scary for us. If something destabilizing happens we can't "wait it out" like I would probably normally try to tell myself I should do. I'm definitely an anxious person as much as I try not to be, or sometimes am too tired to be, and we are nervous. The NIH and others are working on gene therapy research for NPC which could work with cyclodextrin to cure NPC. It could save Marian's life. I want to cling on to that and hold it close. I do worry that trying to hold on to that is going to be like trying to hold on to air, it's dangling in front of us, I hope it doesn't slip away.

 

Marian's third treatment went very well according to Paul. He's going to write a blog post from his perspective about the trip. Lastly, and very excitedly, CHLA is meeting to review Marian's application today. Approval is likely still a few weeks away but we are so grateful to her dream team of doctors and specialists at CHLA and Chicago who are giving her this chance at life - which is not something we are taking for granted and trying to relish every moment of. 

 

We've said this before but it could not be more true - if we were in this alone it would feel impossible, isolating, and bleak. It still feels kind of impossible, but to feel the connection and support from our friends and community we feel like we can try and that Marian's future will exist, and it will be a good one. We are so grateful. 

 

 

 

 

 

 

 

 

 

 

 

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