Updated: Nov 4, 2021
This Saturday Marian and I are flying to Maryland to attend the Patient Focused Drug Development Meeting for Niemann-Pick Type C.
I, along with several other families, am speaking and sharing Marian's story with representatives from the FDA and the other hundred forty plus families, scientists, doctors and pharmaceutical companies in attendance. Not to mention anyone who wants to register to watch the live stream. No pressure. I guess if I made it through a live news segment somewhat composed with a hungry Marian sitting in my lap with a dirty diaper I can do this - fingers crossed. If you'd like to be one of these people watching, you can view the live stream from your phone or computer - you can register (at no cost) and will be sent a link to view as you're able to.
The conference is taking place Monday, March 18th from 10 am EST to 4 pm EST, the panel I am on is scheduled for 1 pm EST.
In preparing my remarks, it's difficult to fit everything you'd like the FDA to hear and know about your child and their experience with a disease that is influencing every aspect of their life, and your life, in a few minutes.
But that hasn’t stopped us yet. I’m grateful to stand together with so many strong families and grateful to the Ara Parseghian Medical Research Fund for spearheading this monumental and critical effort.
It’s been just over two years since Rare Disease Day 2017 when we learned Marian has NPC. On that day, I did not know if she would still be alive at three years old. There are aggressive versions of the disease where kids are born, begin developing normally, then have developmental delays, and then massive regression and progression of the disease and pass by age two, three, four or five. There are other patients who show absolutely no signs until they’re teenagers or even, sometimes, adults. It is quite a misfortune to face NPC, and something I’m struggling to absorb is, not only does Marian have NPC, she very very likely has this first, more rare, aggressive version which would take her from us quite quickly if it proceeded unchecked.
If we had gotten the diagnosis and intervention even six months to a year later, we would likely be facing a very differnet situation. One of the first families we spoke with after diagnosis has a daughter who developed like Marian. They got diagnosed before Marian but their daughter was a year older when diagnosed. She very shortly, and before any intervention could happen, developed debilitating seizures and lost most of her developmental abilities. I told the parent about Marian and they said were glad to hear about her, Marian could have a chance. And that, with at the time record breaking early intervention, is right. That is exactly what she has: a chance. Our three year old daughter has “a chance” to live, and we are lucky to have that.
This disease is horrible. But, Marian is astounding. She is taking this chance at life and grasping it for all she can. This is the thought I come back to again and again. With the help of many many doctors and interventions, with a dramatic share to VTS-270, she is making progress in every single area. Her doctor recently told us she does not know, but suspects the natural progression of the disease for Marian would have been severe. I know these other children, heard their stories, and they all have one thing in common: they remind me of Marian before diagnosis.
What this means for Marian is, at 19 months old when she received her first IT injection of VTS-270, was this early enough for her. Will it last long enough for her to work in combination with other therapies in development to arrive in time. How much damage happened before she got her first dose, more damage than a patient who doesn’t show signs until they’re much older, that’s something we know. Will she be able to hold on to these skills she’s working so hard to develop. She is testing exactly at her age for her cognition now - which is an absolutely mind boggling success against NPC. Her receptive language skills are right within average and just below for expressive. Her gross motor skills have gone from the 1st% to the the 5th% in these two years, another massive feat. Her fine motor is continuing to develop at the same rate, and we’re doubling down on OT time (actually technically tripling) to try to give this a boost. A bit of concern, her spleen is the size of an adults - which is considered a relatively benign symptom of the disease, but that must really be uncomfortable for her and a strain on her spleen. Her liver is holding steady at the tippy top of range of large normal. Her liver lab levels of AST and ALT which were mildly elevated are now normal.
In every way, Marian is making tremendous progress, we see it in the testing, we see it at home, we see it at her (incredible) preschool. She’s speaking in full sentences, though some speech is still quite unclear. She is so so close to jumping. She’s walking on her tip toes. She’s loving and holding her own in ballet class - although not being able to jump is a bit of a challenge. She’s beginning to make some of her own friends. She can ride a scooter all on her own. She knows colors, shapes, she can identify a few numbers and letters. She can make a rainbow with dot art, peel stickers to play with. She can have a conversation. She tells me that she is “never ever ever going to (bed) (eat that) (do that) (wear that),” you name it. When I get home from work she runs up to me with her arms flung wide and says, “Mommy, hug me!”
And yet, we went to the movies. A few minutes after the movie, I asked Marian, what was the movie about, and she didn’t say. I said, was there an animal in the movie? (Cheat sheet: it was How To Train Your Dragon). She didn’t say. I said, was there a bear or a dragon in the movie - and she shouted “dragon!” She got there, but it’s a bit unnerving. We just won’t know the answers to these lingering questions for a long time, and that, in and of itself is a major success. Because it means this: Marian, two years into a disease that could have already killed her or debilitated her abilities, still has a chance in every way. And we are not giving up. We are grasping it. There is a chance, we are grateful, we are lucky, we are fighting, and we are taking it.
At least that's on a good day (most days). As to the other days, thank you for helping us pull through those as well.