Monday, June 23, 2014

Lint Trap

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:

Donate HERE or HERE or HERE or HERE or HERE

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.


Thursday, June 12, 2014

Perfect Timing

God really does have it all under control, doesn't He?!?  At least when something wonderful happens and you can feel Him wrapped up in the situation, it sure feels that way!

This blog has become an outlet for me.  A way for me to get out what otherwise would end up as "verbal diarrhea!"  It's a therapy tool that let's me express what I'm feeling, what I believe in, and to tell our story.  It's reached people that I probably don't even know!  It's been passed around and shared, which completely blows my mind.  I'm humbled when people say that my words have touched or inspired them.  I'm no literature major, and I'm certain my grammar could use some correction.

My blog reached someone that God knew we needed in our lives.  I'm constantly writing about Livia and how her life impacts ours.  The situations we encounter when it comes to her.  The worries I have about her health, her issues, etc. etc.  But that's not my only worry or the only part of our story.  My sweet Finley Faith weighss heavy on my heart, A LOT!  I worry how this life will impact her in the future.  She doesn't really know the extent of Livia's issues.  Being the "little sister," this is all she knows.  She knows Livia as her sister, and that's it.  She does know that Liv is different and takes extra care and patience.  But Finley has always just gone with the flow.  She's helpful, but doesn't interact or play with Livia because Livia has never done that with her.  Finley thinks Livia will grow up.  Just the other day she said, "mom, when Livia grows up I really hope she will learn to talk to me and go pee pee on the potty like me!"  I fought back the tears, swallowed the lump in my throat and totally avoided the statement by offering Finley a Popsicle.  There will never be a right time to tell Finley about Livia, but that day was not it.  I find myself praying daily that I'm doing enough for Finley.  That she is having a good childhood.  It saddens me that she does not have a relationship with Livia like I have with my sister.  How will she be when Livia gets worse?  These thoughts burden me.

A couple weeks ago I received an email from a lady named Gayle.  She introduced herself to me and explained that she received an email from a lady at the Rockford Parent Magazine in regards to the June parent of the month, which just so happens to be my hubby, Jake.  The email referenced our story, Sanfilippo Syndrome, and my blog.  Gayle then went on to tell me that she read my blog and gained a wonderful perspective 30 some years after she lost her brother to Sanfilippo Syndrome.  Whoa!  At the end of her message she expressed that she would really like to speak with me and I quote " If you have any interest at all in connecting, I would love to speak w/you in attempt to offer any support that I can.  Even if its from the perspective of being a sibling of someone w/Sanfillipo syndrome."  

I immediately emailed her back.  I was not going to let this opportunity pass me by.  Texts were exchanged and just this morning, Livia and I had the extreme pleasure of meeting Gayle in person.  I knew this was going to be an emotional meeting for both of us.  Hugs and tears were exchanged.  God calmed my burdened thoughts through this beautiful new friendship that is only hours old.  Our conversation was easy and familiar.  Sanfilippo Syndrome verbiage is pretty much the same from decades ago.  I'm pretty sure Gayle experienced nostalgia being in Livia's presence.  Gayle's words and encouragement, not to mention all the little similarities we found getting to know each other, were extremely comforting to me.  God was completely wrapped up in this.  Gayle and her family were placed in our life to offer something.  Support for Jake and I, yes.  To love Livia, absolutely yes!  To love Finley but to also offer a sibling perspective, oh my yes!!!!!  If you are open to praying, listening, and obeying, God will show up in His perfect timing...every.  single.  time.