I’m always touched when people talk and interact with Livia. Just today my breath was taken away when I stood back and watched a little boy sitting with Livia on the floor at the drop in. She was in her own little world and he was handing her toy after toy when she would drop one after the other. I could see by the way he was looking at her that he knew something was different about her, but he just wanted to help. I could have watched that forever.
Knowing and rattling the facts about Sanfilippo Syndrome has become second nature. The words roll out of my mouth with such ease that at times, I don’t even have to think about what I’m saying. However, stating these facts, and seeing Livia in the same breath can be confusing. For the longest time, Livia seemed very typical with the exception of her “voice.” She’s now showing more physical changes, but still for the most part looks like a kid! Understanding this syndrome when you aren’t “living” it, is hard. So, here’s my attempt to help you understand a little better.
I want you to picture your clothes dryer. It’s a machine that most of us use everyday. Now imagine this dryer as your body. All dryers have lint trap vents or doors. This “lint trap” is what we have in our bodies called heparan sulfate (an enzyme). Kids with Sanfilippo Syndrome do not have this lint trap (or the missing enzyme heparan sulfate.) In our bodies that have that functioning “lint trap,” we can safely remove that lint trap, pull it out and dispose of the lint like we are suppose to (or in real anatomy, we pee it out). That lint that I’m referring too, in our bodies, is called glycosaminoglycans or GAGS. Like in Livia’s body, if a dryer is missing that lint trap, the lint (or GAGS) has no where to go but in places that we don’t want it to be. Can you imagine running your dryer over and over again and all that lint going into the exhaust pipe, or the motor, or other critical parts of your dryer that makes it run? Eventually, your dryer isn’t going to work properly due to all of that lint build up. Unfortunately, this is exactly what is happening to children that are diagnosed with Sanfilippo Syndrome. Those GAG’s (or lint) are building within their systems in all the places that we don’t want that build up. Just because one little part is missing, but, it’s a critical part. These GAG’s are building in their organs, tissues, joints, but mostly brain and central nervous system. This build up is what has caused her to stop talking, feeding herself, motor issues, seizures, swallowing difficulties, and eventually death.
The goal of all the fundraising you see online or on TV, basically, is to be able to install a lint trap door or vent in a newer dryer that may only have a small amount of that build up. A way to save a child in time, before too much damage occurs. You see, all of us, even children born with Sanfilippo Syndrome are born with a clean slate. It takes a lot of uses (or a lot of years) to really see that damage take affect. It’s why it’s so important to get this trial funded so that no more families have to watch their children slowly slip away. We have an opportunity to make a difference for our future. It doesn’t matter if it’s $5 or $50,000, this trial can happen with all of our help.
Ways to help:
Join a team at https://www.crowdrise.com/event/join/PurpleLemonadeStand
Thank you for your consideration, and just listening. More than anything, I want people to understand what is going on with Livia and other’s like her. Liv Life Foundation wants to help impact the future for other’s. We’ve only been given this one life, so let’s LIV it for good, with one another, and with intention.