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Watch Me Mama

October 23, 2018

 

 

 

We have some exciting developments! These months have been a whirlwind. We are seeing so many incredible things and Marian teetering on the edge of so much more. Marian is three years old now. We celebrated her birthday at a little water park, and again at her school, and again on her actual birthday, and one more time at a special surprise party her friends had. She was pretty ecstatic. At school, she moved up with her preschool class from Green Room to Blue Room, and when I walk her into school in the morning she looks up at my face, shakes her finger, and firmly tells me, "not Green Room."

 

When we were in Chicago a couple weeks ago for her twice yearly assessments, so much went "right," but man is it hard. NPC is a horrible horrible horrible disease and there a lot of special little lives hanging in the balance right now. 

 

 

I came home from Chicago feeling very uplifted from her assessment results and the time spent with her Chicago support system, including the Rush Hospital team, special hotel, amazing NPC families and our cousins in Chicago. At her next physical therapy session at home, her PT checked her ankle reflexes and I sat there in horror watching as her ankles shook when quickly flexed. I'd never seen that before. It's called clonus and could be a fluke and something occasionally found in kids...or it could be NPC. I've been told, "not to get too excited by this," as it hopefully is unrelated. So, this is me, staying calm.

 

It feels so often that this is a near miss, and in many ways Marian is writing a future for herself that is the complete opposite of what her body is trying to force her into. But, we are very much still in the trenches of trying to beat back this terrible disease for Marian and many many others.

 

Another NPC parent told me a few weeks ago, "I hope you never have to see what I see, the days I look at my child and I can tell he doesn't know who I am. Those days are really hard." Her son is seven and there's not much more that can break your heart other than that.

 

So, all this to say, this is a difficult journey. But here, is the good news. Marian has been on VTS-270 for 18 months now, almost half of her life, and her development is just exploding.

 

 

 

Marian is almost 38 months, when she was initially assessed she was outside the normal range in almost everything. In April we saw a huge leap forward in receptive language and cognition - which are holding steady still in the low average to average range. And, this time in Chicago her expressive language made a major leap - to 32 months (6 months ago is was 22 months).

 

Marian's motor skills are moving forward slowly but surely. In fine motor she increased 6 months in 6 months time, so while still delayed, she's not falling farther behind. Her gross motor skills are hitting a wall with the testing because she can't jump, run or climb stairs on her own. I swear Marian slowly runs at home when she is motivated (usually candy or chasing her sister), but she refuses to do more than a fast walk in the assessments. She tip toe walked, walked a straight line, caught the ball and balanced on one foot all for the first time in Chicago. Woohoo!

 

When she can jump - which she's practicing all the time - and climb stairs without holding on, we should see another big leap in testing results. She's definitely making progress and is so proud of herself. 

 

Medically, Marian is doing great, her liver is doing well, no major hearing loss and her heart is doing well. Very grateful for all this positive news. We're going to Children's Hospital Los Angeles every two weeks for her treatments, and they could not be more wonderful. We've had some company the last few times from the beautiful Ruben family from Las Vegas who are traveling to Los Angeles for treatment, they're moving through the heartbreak of having to face NPC for three of their children, all little boys who are ages 1, 3 and 7. 

 

Marian has been giving everyone a  laugh at CHLA as she's been walking back on her own into the OR recently, either holding my hand or sometimes the anesthesiologist's hand. Most kids have to be partially sedated to enter the OR area. Marian, at barely 3 feet tall, marches down those long white hallways filled with doctors and nurses in masks, hospital gurneys, and medical equipment waving and saying hi to everyone she passes. She is incredible. 

 

 

 

At home, Marian's new favorite phrase is "watch me!" She says it half dangling with a huge grin on her face, as she climbs up onto the bed and happily tries to jump around. Marian is also an aspiring ballerina. She takes a parent and me ballet class Monday mornings. Every Monday she picks out her ballet dress, I put her little ballet slippers on, and when we get to the studio she tells me to sit and watch so she can do it herself. During the class, she twirls and races across the room with a huge smile. Not jumping, marching instead of tip toe walking, and loving every carefree, happy and special moment that it brings this little girl. She is fighting for her life and every step forward, and grateful to the tips of her toes for everyone helping her, rooting for her, and with a smile, saying, "watch me" do this. 

 

 

 

 

October is NPC Awareness Month:

 

1. A huge THANK YOU to The Locket Sisters for donating 25% of all their sales this month to Hope For Marian. Their photo lockets are all hand crafted and so beautiful - they size your photo for you, too. We are honored to be selected as their charity for this month. Please help support them and Hope For Marian if something catches your eye, they're so special.

 

 

 

 

 

 

 

2. We are officially an Amazon Smile charity! You can register Hope For Marian as your charity and .5% of all purchases will go to supporting NPC. Amazon Smile is a bit tricky, in order to be credited towards your charity of choice (no judgment), you must begin your shopping at this URL: smile.amazon.com and then shop away as you typically would. 

 

*100% of our donations go to funding research for a cure and supporting NPC patient access to medical treatments. We are currently partially funding four research grants at University of California at San Diego, Notre Dame University and University of Michigan. We are also supporting the NPC Patient Care Fund at Rush Hospital so all NPC patients, regardless of insurance restriction and financial means, can access the specialized care and treatment available there.







 

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