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Our First Year Post Diagnosis
At diagnosis in 2017, I began recording my experience supporting Marian through her first year post diagnosis and utilizing expanded access of adrabetadex, originally titled, "A Mom's Journey to Fight For Her Daughter's Life...And Some Every Day Stuff Too."
I hope these entries can help NPC families feel supported, find hope and for others to connect with the experience of receiving this diagnosis and advocating for children and adults with NPC.
The Two Year Mark
This Saturday Marian and I are flying to Maryland to attend the Patient Focused Drug Development Meeting for Niemann-Pick Type C. I,...
Sara McGlocklin
Mar 15, 20195 min read
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Watch Me Mama
We have some exciting developments! These months have been a whirlwind. We are seeing so many incredible things and Marian teetering on...
Sara McGlocklin
Oct 23, 20185 min read
298 views
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One Year Forward
On our way to Chicago for her 12 month assessment. When I was little I was pretty sure I’d be on tv one day. My cousin Gina and I used to...
Sara McGlocklin
Apr 16, 20185 min read
322 views
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Marian is Singing
Marian is singing! This is huge. When Marian was a baby she would babble, smile and communicate, but if asked to do something "on demand"...
Sara McGlocklin
Dec 11, 20173 min read
246 views
1 comment
The Next Ultrasound
This morning Marian had an ultrasound. Sounds pretty painless, right? If I were to chat with someone casually and they asked what I did...
Sara McGlocklin
Nov 14, 20174 min read
338 views
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Six Months and Counting
It's been just over six months since we got the diagnosis, and almost six month since Marian started treatment. This time last year,...
Sara McGlocklin
Sep 28, 20175 min read
427 views
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Turning Two
When Marian turned one I did not know if she would live to be two. That sounds like an exaggeration, it’s not. I only shared this thought...
Sara McGlocklin
Aug 25, 20173 min read
183 views
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To 400 And Back Again
Marian is the youngest patient in the world that we know of to be receiving this treatment via IT (spinal fluid). Another title holder is...
Sara McGlocklin
Jul 29, 20174 min read
402 views
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Hearing Check
Marian has ultra high frequency hearing loss. We sat in the little room together for the hearing test. Not to brag but I could hear all...
Sara McGlocklin
Jul 18, 20171 min read
239 views
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Life on the Line
I sometimes would sit at night looking at charts for NPC. There's a white line for pre-neurological symptoms, a grey line for...
Sara McGlocklin
Jul 14, 20173 min read
209 views
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Medical Journey to NPC Diagnosis
She's so small. That was my first thought when I first saw Marian, like a miniature porcelain doll. At Marian's early well baby visits...
Sara McGlocklin
Jun 21, 201715 min read
600 views
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Science and Hope in Arizona
Well, it happened. I cried in public. The worst. I last cried in public seven years ago and still cringe when I think of it. Albeit that...
Sara McGlocklin
Jun 7, 20177 min read
278 views
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Weekend Snapshots
"More More More More" is the theme of the last couple weeks for Marian, she signs more over and over and says, "moe" and then swipes her...
Sara McGlocklin
May 30, 20172 min read
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What (Not) To Say
My daughter is dying. Maybe. She has a fatal and progressive genetic condition. She is one and a half years old. There is hope for her...
Sara McGlocklin
May 27, 20173 min read
208 views
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Number Four
Two of my best friends from law school traveled to Chicago with Marian and I this time. I didn't realize how much I was missing and...
Sara McGlocklin
May 24, 20174 min read
197 views
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Carousel With Friends
These two have been friends since birth and are two of four members of our "baby play group" (comprised of four four year olds, four baby...
Sara McGlocklin
May 24, 20171 min read
81 views
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Prima Ballerinas
This weekend Emily danced her heart out in two dance recitals. The first was at her nursery school, on stage her best friend at school...
Sara McGlocklin
May 24, 20173 min read
84 views
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Good Things
Marian is doing so well. Emotionally it's little unsettling in a bizarre way though. For all the small achievements or changes she is...
Sara McGlocklin
May 10, 20175 min read
187 views
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The Second Treatment
I wrote an entire blog post about our second treatment and I did not save it. Oh well! Here are some pictures that tell the story of our...
Sara McGlocklin
May 2, 20173 min read
140 views
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Scary Coughs
Last night was a rare occurrence, I was the last one awake. Which is particularly surprising since two nights ago I fell asleep lying on...
Sara McGlocklin
May 1, 20174 min read
123 views
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