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©2017 by Hope For Marian, Los Angeles, CA

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The Ups and Downs: A List

April 16, 2017

 

Here are some things we've learned this week:

 

1. Contrary to what I always believed, it is possible for a stomach bug to last for seven days. And it is the pits. Seriously.

 

2. I love tv but I don't ever want to watch The Amazing Race episode where they pick the teams that Emily has been watching on repeat while sick ever again. 

 

3. I would last three days on The Amazing Race. Tops. Paul has already said he would never be my partner on it. 

 

4. Marian is a 6 on the NPC scale out of 61. This is encouraging in that she's on the highly early side, but at the same time, it doesn't really mean anything, because without a treatment and then a cure, she'll slowly start to tick more and more boxes. And nothing is yet a guarantee. 

 

5. We realize now that we have a sick and terminal child - at least with the state of medicine as it exists today. At the same time. she truly could survive this if things fall the right way. It's hard to know how to move through this.

 

6. Five kids with NPC died this week. Five beautiful kids who probably hoped that maybe they would be part of the first generation of survivors. Cyclodextrin is a wonderful lifeline for our kids. But it is not a cure. 

 

7. There are beautiful, kind, and purely good souls in this world, and we met them in our family who surrounded us in Chicago. They were at our hotel The Residence Inn River North in Chicago who saw Paul's post on Facebook and filled our room with toys from the Disney store, and our days with kind smiles, and uplifting surprises. And they also were very very kind when we needed new sheets from throwing up - twice. We saw it in friends, family and complete strangers who have offered to drop everything to fly back and forth to Chicago with us, provide rides, bring food, pick up Emily, help us at work, raise money, raise awareness, raise hope, and feed George (our cat). And the hospitals are just bursting with them in the doctors, nurses, social workers and researches. It's no surprise to me that Emily wants to be a nurse when she grows up!

 

8. There are kids all over the country right now who are fighting to hold on to the ability to walk, to eat on their own, sometimes simply to breathe and go on. We hope the treatment will be enough to steer Marian away from this future, but it is completely scary and heartbreaking across the board. 

 

9. Our family is not "normal" anymore and let's be honest, who really is, but it's still hard to swallow. I'd like to think we're probably still more normal than some other people (don't worry, I'm not thinking of you),  but it's certainly never going to be simple again. 

 

10. Marian will be the youngest patient to receive VTS-270 as of now. We are so lucky to live in the United States where Marian can access VTS-270 through compassionate use.

 

11. There is so much hope for Marian, everything that was true before is still true. There is a breakthrough treatment that is hopefully close to FDA approval. Marian has access to it and has begun treatment. Without this there would not be hope, with it there is a vast amount. There is other very promising research and trials in the pipeline. Marian is very early symptom wise. Marian is young and still developing. Other families and doctors have done tremendous work to advance treatment and help NPC stand out to become a pioneering rare disease. In my own metabolic disorder Sophie's choice, I would probably pick NPC as it is today for the promise it has over many many other choices. In case you're wondering my first choice was Glycogen Storage Type 1 or Gaucher Type 1a or a mild non-progressive mitochondrial issue, but still - ranking in the top four of choices in the metabolic community of hundreds is not bad. We can and will work towards a cure that will come in time for NPC children. 

 

12. Right now Marian is sitting on the floor in the kitchen, her legs thin from having a low appetite for a few days during, between, and then during again stomach bugs. She is tearing through empty plastic cups pretending to drink out of them and making pretend "ahhhh" sounds like she is the star of a Gatorade commercial. It is adorable. Emily is curled up on the couch watching Mary Poppins cute as a button recovering from a stomach bug, asking to eat bread with butter like only a child of mine ever really could. Paul is wearing his San Diego Padres baseball hat looking both adorable and cute as a button. We are so grateful and hopeful. I don't know how we found ourselves on this path, but here we are, and we are going to take it on as best we can. 

 

13. On the home front, Emily told me when she grows up she's moving out with May May and they're going to live together, but not get married, because she doesn't have a marrying dress. I hope this happens. We cannot imagine a future without either of our girls. 

 

14. And abroad, Marian's story is getting covered in Germany - that is so neat and exciting!

 

15. And lastly, one of the most important things we learned: we will never, ever, ever book a flight to/from treatment with a layover ever again. Ever. Layovers: you are the worst. 

 

This picture was taken when we began counting the minutes until landing. We were covered in vomit, Marian was refusing to eat, she was exhausted, we were squished, and we were hating on layovers.

 

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