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Reading The Fine Print


I have been taking something major for granted - and that is that Marian can get access to cyclodextrin. We haven't even started treatment yet and already my mind is racing about how we will make it work, how difficult it will be to do this every two weeks forever. I've grappled with the anticipated pain of watching Marian be put to sleep and poked over and over again, and I've mentally been exhausted at the idea of flying back and forth to Chicago when we haven't even made a single trip yet. What a false privilege this is - because none of this is certain. The reality of that is so difficult to swallow it only drifts in and out of my awareness in fleeting moments of raw fear.

This week the pharmaceutical company that makes VTS-270 was acquired by a larger company for hundreds of millions of dollars. I got a B+ in Business Associations in law school, for everyone who escaped the crushing demoralization of law school grading curves, this is supposed to be a good grade. Technically with the newly adjusted curve at Loyola - which is retroactive I might add - I think I can ethically say I got an A-. So, I got an A- in Business Associations in law school, and I remember very little from it. All that to say, I am an attorney and I feel like I'm in third grade when it comes to handling the enormity of what is happening.

This acquisition should only effect Marian and her treatment in positive ways, thankfully. But I am not a fan of change, and it is scary for the bottom to fall out from beneath you, and just when you're getting your legs under you - you realize the ground is still a little shaky. I don't think we can handle another fall. For all the logistical difficulties that the treatment presents it is massively outweighed by the benefits: it will keep Marian alive. It will keep her healthy for a long time. It will prevent her from fighting every minute of her life to make gains only to slowly start to lose them. I pray we will never know the heartbreak of watching silently as she struggles to do something that used to come easily to her, and then one day not to be able to do it at all. This is what the treatment offers us - the hope to keep our younger daughter as she is and who she can become. To keep our daughter.

I am no one important to the world, my life shouldn't even be in shouting distance of these business dealings. I mean, I'm a part time non-profit attorney and part-item snack retriever. I know this is a good thing for the NPC community and probably a wonderful thing but it is really frightening me. It is forcing me to experience that nothing is set in stone, these things can change. VTS-270 is not FDA approved. There's no guarantee it will be. Marian is not on compassionate use yet - something could block it. I've read before only 10% of drugs that enter clinical trial end with FDA approval. Ten percent.

If Marian cannot get cyclodextrin she will die. Best case scenario she will likely start to slowly decline and we will be helpless - possibly getting the opportunity to freeze the progression down the road, when a piece of who she is today has been lost forever. And this could still happen even if she does get cyclodextrin, although everything that I know points to this happening years and years down the road. Of course our goal is that medical research will keep pace with cyclodextrin and she will live a long, full, healthy and happy life.

This is why I am essentially obsessed with getting our story out. I want everyone to know Marian and to love her. She is so worthy of it, all of the NPC kids are, all children are. It's really difficult to express how it feels to know your child might die. This is made more complex by knowing that there is something that can help save them, but it could be threatened for so many reasons outside of any one person's control. These children deserve to live and they can be saved. There are doctors, scientists, and parents who have been fighting fervently to do so - to fight against the nameless and faceless to protect and help these children.

To face losing a child is something no family member should ever have to face - but it happens all the time. To lose a child that can be saved is not something that happens all the time - but we have to face that possibility.

I am so deeply deeply grateful to every single person who has prayed for Marian, shared her story, and donated to help her get access to cyclodextrin and advance life saving medical research. Thank you. To borrow Firefly Fund's illuminating line, we will shine a light on NPC that cannot be turned off.

In this effort, we are off to Chicago on Thursday. Today was a long day at the hospital clearing Marian of the last testing requirements to begin VTS-270 in Chicago. Once again the doctors and nurses at CHLA were nothing short of extraordinary today. In Chicago on Friday we will meet with one of the world's best NPC doctors who is a trail blazer, medical genius and all around super star and then the treatment will hopefully be given on Monday in Chicago.

To end with, I have many wonderful friends, but my friend Jen has the most beautiful heart and stayed with Marian and I at the hospital from 8 am to 3 pm today so that I would not have to be there alone and face the above mentioned reality in the quiet moments. Also, Marian was fasting until 11 am - that is just not easy for a 19 month old. It's the people like Jen, our friends, friends of friends, family, community, the writers and journalists who have reached out to us - every single person who is sending their love that will see Marian through this. She is soaking it in, and it radiates out of her sweet smiles and giggles. She will be ok - her light shines so brightly. Thank you for seeing it and making it brighter. Thank you for making it stronger.

Jen holding Marian in the surgery admitting room today before her sedated hearing test and other adventures.

Marian, reading the fine print.


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