will someone hold my heart?

One of my most favorite musical artist is Sara Bareilles. My pandora radio station is usually always set to SB. Her music is beautiful and I find a lot of inspiration listening to her words. If you are reading my blog right now, chances are you are hearing one of her songs playing. "Hold my heart" is the latest song I've added to my play list. I wanted to add "The light" but it wasn't available to add. You can click on the song and it will take you to her latest album and you can listen to the entire album, or choose which song you'd like to hear. Anyway, the point of this post is to express some of the feelings I've been having lately. There have been a few small glimpse's of Sanfilippo showing it's ugly face in Livia's beautiful life. I received an email last week from one of her teachers expressing that they have seen an increase in Liv's aggression. This was a HUGE heartbreaker for me. While reading the words in this email, my heart fluttered and my heart was once again sitting in my throat. No one wants to hear this. I really didn't know how to address the situation because we are not seeing this behavior at home. I emailed the teacher back telling her that we will address the situation and want to resolve it in the best way we can. I contacted her genetic counselor to get some advice, which helped somewhat. I then talked with my angel of a friend Stefanie Boyce. She is one of the wisest people I know. She offered support and insight to what they have experienced with Jayden. I have a feeling that our lives will mirror theirs. Unfortunately, SS will show it's ugly face in their family first.............maybe. Anyway, after pondering over this situation I emailed the teacher back and expressed to her that I thought this was Livia's means of communication. She is not able to use her words like she wants, and so an uncomfortable situation or dislike or want that she is unable to get across is probably resulting in frustration. Being Livia's mom, I'm bias to her. Meaning, she is mine. I love her unconditionally and she is an angel in my eyes. Even through Sanfilippo, my heart will never waver when it comes to loving my child. I know, however and unfortunately, there is a stereotype associated with a difficult child. I mean, not only do they have to deal with these aggressive behaviors, but they are changing her diaper as well. I know, I know, it is their job, and they wouldn't be doing these things if they didn't choose to. I just don't want any animosity or ill feelings towards my child. I want people to see her for the person I know she is. The girl who loves to cuddle with her mommy and giggle. The next thing isn't big, but it's another "thing." Livia now has to wear a harness vest thing on the bus. She was being double buckled and we gave her her barbie to keep her hands occupied as to not unbuckle herself and get up. I've delt with this in the car, as well. Having a child get out of her car seat on I-90 in the middle of rush hour is NOT FUN! Liv's bus driver is so kind and soft spoken. She has been very honest and tried every option before going to the vest. It was time, though, for everyone's safety to change Livia's IEP and put her in the vest. Today was her first day in the harness. Next thing, Livia's diapers are getting to tight. She is in the last size that you can buy in the store. Luv's are about the only diaper that seems bigger than the rest that we can get away with putting her in. I'm not ready to go to the medical supply store to buy bigger diapers. It's something that I know I'm going to have to do soon. Her chewing has increased......A LOT! If you come to my house and pick up a Barbie, they are either missing both feet because I've amputated them due to Livia's chronic chewing. OR, they are about to be amputated. She is getting small pieces of plastic off of them. I know I shouldn't even let her have them to chew on, but it's her preference. If I try to put her favorite Barbie of the moment out of sight, she will cry for it. She asks for it and uses the word Barbie. I guess I kind of feel like I'm rewarding her for using her words. I've thought about looking into the "chew toys" that other families have used, but I am not ready to have those in my house. It's all denial on my behalf. Putting all of these issues off or aside is doing Livia no justice. It's putting my feelings in front of her needs, which I know better, but I'm just not ready............or will ever be ready to let Sanfilippo in. You see, this scary, uncertain, heartbreaking reality is my reality. It is something I live with and is in my world 24/7. Somedays I just want someone to hold my heart. I read scripture and my Faith carries me through each and every tough and not so tough moment of my life. But it is in the front of everything, everyday. It's not going to get any easier from here. So, how do I deal? I find the right time to go buy bigger diapers at the medical supply store. I figure the chewing thing out, when I feel it is time. We deal with the school issues in the most open and honest way possible. We NEVER want enemies. I have no desire or have no time to put effort into being the mean possessive I'm always right mom. We just deal. We make the adjustments and just enjoy today. I guess, in a way, I'm glad I get Livia the way she is. She is easy, loving, and her salvation is secure. This is something I reflect on so much. It's the reason why I'm choosing to put God first in my life because I know that if I continue down the path I've chosen, one day, Sanfilippo won't be in our eternal life and we will be together in divine happiness.

Before my eyes

Livia Grace Hubert

Born 2/6/7

6 pounds 4 ounces
19 inches long
12:10 pm

Where has time gone? It was a short 4 years ago that this beautiful little girl entered our lives. I'll never forget the day Liv was born. Livia was delivered C-section due to a breach position. Everything was planned, which I really appreciated, because I'm a planner. At that time I was an OR employee, so I got to choose (mostly) my room staff. My friends and colleagues were there to share in this experience with Jake and I. It was a very blustery day. Blizzard like conditions. I loved it. It was a routine c-section. IV's, nausea, drapes, insturments clanking, familiar smells (to me), quick spinal, and things were rolling. It was calming to have my friends with me. Words of encouragement and what to expect next. My friend Greg was my CNA. He was wonderful. Once the surgery was underway, things happened so quickly. The nausea hit fast, but Greg was there with his alcohol wipe to help me "sniff" it away. Lot's of tugging and stinky bovie smoke, but after a few minutes, I heard her. It was like music to my ears. I heard Jake say "she's here." Everyone was cooing over her, of course. And then the drapes dropped. There she was. My beautiful girl. The first thing I noticed was her dark hair, and how much there was! Her hands were curled together under her chin. Her lips were so red and pursed as if she was ready to give me a kiss. Her legs were crossed, indian style. She was perfect and she was mine. That moment is burned in my brain. It was almost as if time were moving at such slow speed. Like you see in the movies. I know the moment only lasted a few seconds or maybe even a minute, but when I think about it, it's a daydream that lingers. I cling so tightly to this memory of the first time I saw her. Even thinking and writing about it now is making me cry. I held Livia for the first 18 months of her life. I was so protective of her. I didn't really want anyone else to hold her. I wonder if in my subconscious, I knew something was wrong? Being a mom a second time, and seeing other mom's and how they are with their babies, I really feel like that time with Livia was meant to be. Before I had Livia, and dreaming about what a mom would be like, I can remember thinking about having a 4 year old. For some reason, I thought this age would be one to look forward to. I thought, a 4 year old is transitioning out of the toddler stage, learning new words, and communicating in funny ways. Their imaginations would be filled, but they would still be little enough to really need their mommy and daddy. I have some of that with Liv, but having my 4 year old is not what I dreamed. Birthdays are biter sweet around here. I love having them, planning them, and celebrating them. Who doesn't like a good birthday party? With Livia's birthday's, I almost dread them. It's not that I don't want the celebration, because she IS worth celebrating, I just don't like the thought of one more year gone by. It's hard not to be emotional around a birthday when you have Sanfilippo in your life. With that said and out of the way, on Sunday, think of Livi Loo and wish her a Happy 4th Birthday! It's a day to celebrate this precious gift from God!
This picture to the left is from a small celebration we had last weekend. She loved her balloons!

A bundle of nerves

I thought about having a glass of wine to help calm my nerves, but settled for a brownie instead. I'm thinking the wine would have been a better option. Voting for the Pepsi grant ends tonight at midnight. We have slipped from 1st, to 2nd, and even to 3rd place today. We are in first right now, but have to rally those votes and end strong. 2 hours and 4 minutes.............will we pull through? This money could mean a chance for Livia's life.

Please vote.

Please pray.

A labor of love

Being at my grandma and papa's house is such a comfort to me. When I walked in the door today the familiar smell of their house and their welcoming voices and arms was just what I needed. To be in a place that feels so safe and rekindles memories of nothing but happiness is true bliss. Tomorrow is grammy's birthday, so we had a little celebration at lunch. With my belly full of home-cooked food and delicious cheesecake made by my beautiful sis, we visited and talked about the day grammy was born. Ommie, mygreat grandma, told us about that day. We then played a couple games of euchre. Which, by the way, Ommie and I beat Audra and Doug.........both games!!! Grandma then proceeded to show me her latest projects. Side note: my grandma is one of the most talented women I know. I come from a long line of creative women. Anyway, she has been creating Liv Life shirts for us to sell to help us with our medical bills or cost of Genestein. These are homemade, by grammy. Different than the shirts we have made for the foundation. People have been requesting these shirts left and right. Grammy has been buying shirts when she finds them on sale, tracing the iron-on's, cutting out the fabric, and embroidering the letters. She's created an assembly line to maximize her time, but she estimates one shirt takes about 5 hours, start to finish. When I saw all of this, I insisted we help with the process and even volunteered my mom to help out. I traced, mom cut out, and Grammy continued placing each and every letter on the shirt. No sewing was completed today. This is all a labor of love. Complete, self-less, beautiful, generous, labor of love. To commit this amount of time and her own money to do this for us, for Liv, is true love. I really can't put into words how much this has touched me. Thank you grammy for loving me and my family unconditionally. Thank you for creating such a warm place for me and the rest of OUR family to come. I hope you know how much you mean to me, and how much I LOVE YOU! You have filled my heart more than I can ever express.

Losing the weight of offense

The latest series at church is called "Fit for life." Each week has had a clever title and has touched my heart tremendously. Each week has started off with the verse:

1 Timothy 4:8
Physical training is good, but training for godliness is much better, promising benefits in this life & in the life to come.

The weeks have been titled "Skinny Fat," "Losing the weight of guilt," and "Losing the wight of offense." I wanted to recap each week, and tell a little about what I learned from each message, but honestly thought I'd lose a lot of people's attention and thought I should just get to the point. If you'd really like to know what I've learned from one or all of the weeks, I'd be happy to share with you. Send me a message at kelfish121880@hotmail.com!

So, last Sunday...........Finley was having another fussy morning, and Jake and I were both convinced that she had another ear infection. He stepped up to the plate and volunteered to take her to convenient care to get her ears assessed. Livi and I decided we still wanted to go to church and just spend the day together. My plans were, church, lunch, and mall. A fun girly day! Sunday school for Livia is like going to a childcare drop in. The rooms are divided among ages, and her age group does get to go to chapel and worship. It's not just strictly playing. I sign Livia in, put a name tag on her, and walk her into the room. A new lady volunteer, that I'd never met, greeted us at the door. I started to hand her Liv's water and her diaper........like I've done every Sunday before this. The lady put her arms up, took a step back and said to me "Oh, they must be potty trained by the time they are in the 3's room." Of course my heart sunk, started beating rapidly out of my chest, and I could feel my face getting red with sweat beads. I then proceeded to tell her that Livia has a terminal disorder and will probably never be potty trained. She then proceeded to say "Well, we just don't change diapers in here." ARE YOU KIDDING ME? I just said the word terminal and child in the same sentence, can you just please take the diaper? (I didn't say this, but was thinking it.) I immediately was offended and hurt and could feel the anger rising in me. I started to get defensive and explain our situation like it was our first time there. In the mean time, a young lady volunteer who is probably a HS student, stepped in, raised her hand and said "If Livia needs her diaper changed, I'd be happy to do it." OK, problem solved, I'm going to church. Nope, the first women then says I'm getting the room supervisor. WHAT???? Am I at church or am I somewhere else? I'm so mad at this point, and I'm fighting back tears. He (the room supervisor) walks up to me and says "is there something I can help you with?" I then started all over again. "I'm Livia's mom, she has Sanfilippo Syndrome, etc. etc. etc. and this lady JUST WON'T TAKE HER DIAPER." He said. "Oh yes, we know Liv, she's wonderful. Betsy (who is my friend and head of the childrens ministries) told us about your situation and we will take her diaper. If it's ok, we'll just call your number if we need you." I'm off to church, by myself, crying........................

The message, the most perfect timing, the most perfect words and verses were placed on my heart. God was truly working that day. I feel like I've been offended a lot. Of maybe I get hurt to easily. I know I wear my heart on my sleeve, and that leaves a lot of vulnerabilities exposed. All my issues. However, when you have a special needs child, your guard (regarding them) is always up. I'm very protective with Liv. I don't like having to use the word terminal or explain what might happen to her. It is the hardest thing to have to do. However, I'm not going to let these defenses harden me as a person. I love people. I love interacting, learning about people, and most of all seeing the goodness and potential people have to offer. So when I get offended, it really cuts me to the core and I take it personally. How do we lose the weight of offense?

1. We must understand the source of the offense.
2. We must understand the impact of the offense.
3 When you hold on to a grudge or an offense, you cannot receive God's blessings long term.

Pastor Jeremy said "anyone who is a mature Christ follower and correctly understands the Word of God cannot stay offended. God cannot bless an offended person."

4. When you are offended, you will eventually stumble spiritually.

I was ready to stumble. I was ready to put my defenses up and tell this lady what I really thought and how I was feeling. But, I knew it wasn't the time or place. I needed to just walk away.

Psalm 119:165
Great peace have they which love thy law; and nothing shall offend them.

So how do you deal with offense?
APPROACH. Go to the person who offended you, if possible. This is a hard one for me. I HATE CONFLICT. I avoid it at all costs. I'd rather have my feeling hurt then hurt someone else's.

Matthew 18:15
If another believer sins against you, go privately and point our the offense.

FORGIVE. Easy enough!

"Unforgiveness is like drinking poision and then hoping it will kill your enemies." Nelson Mandela

UNTIE. The Aramaic word for "forgive" means literally to untie.
Forgiveness will set the prisoner free and bring about the realization that the prisoner was you. Pretty powerful if you really think about it!

BE QUIET. So, this post is really what I shouldn't do. I'm re-tying myself to the situation. Gossip, throwing someone under the bus, or blogging isn't being quiet. People's actions are an unenforceable offense. We have no power over other people's words or actions. It's our choice how we handle it. It's our choice to untie. We cannot change someone else's heart. Only God can. God is the defender of your pain.

THINK BIG. Decide to do the right thing. Realize that this offense is not the defining moment in your life. This is only a slice in your life. Decide that this is not who I am.

This is all so true, but it doesn't erase the moment, and it doesn't erase the pain. I know I will be offended in my life. Probably a lot. I am going to always remember this message and choose to do what is right. I'm so thankful for that day and everything that went on. It's ironic, but I really find purpose in my pain.

Worried in the ER

Yesterday around lunch time I noticed that Livia had a bunch of little red dots over the bridge of her nose, under her eyes, around her temples, and across her forehead. I'd thought for about a week that she looked pale and tired. I called the doctors office right away but couldn't talk to a nurse right away. I called my aunt in Michigan who is a nurse and has an extensive pediatric background. I described Livia's face like someone had taken a straight pin and poked all over her face. Brenda thought it sounded like petechiae, and that it should be checked out. Apparently, people who have vomited a lot or have coughing spells that are choking can get petechiae. Livia has had none of that. It can also mean that she has low platelets. Her platelet count is usually on the low side, but something that needed to be checked. Our pediatrician recommended we go to the ER to get blood drawn and results right away. We made our way to the ER, which anyone who has experienced going to an ER knows how stressful it can be. Long waits, crowded waiting rooms, people wearing masks, drunks stumbling all over the place, and maybe even a women in labor. Not a fun place for a 4 year old to be. We really didn't have to wait long, which was a relief. Once we got checked in, it was a non-stop explanation of what Sanfilippo Syndrome is. Thankfully, I had some of the brochures that I made with me, so I handed them out and explained along with them. I got great response and warm regards from the brochures (which I wish I'd made a long time ago). But every single person we came into contact with had never heard of SS or the supplement she is on. So once again, the gritty and grim details were pouring out of my mouth. The staff was very kind to Liv and as accommodating as possible. Blood was drawn and a brief "once over" assessment was completed. She is so use to her blood being drawn that when they prepared for the blood draw she just stuck her little arm out like she knew what was coming. It brought a tear to my eye. At least she doesn't put up a fight or scream. She's one brave little lady. After being there for 4 1/2 hours we were free to go. Blood results showed her platelets are low, but not low enough to replace them. I left feeling like I didn't really get any answers. I left feeling like a number. Trying to speed our discharge up, I opened our room door and sat on the end of the bed. Our room was located in eye shot of where our Doc was sitting and dictating. I think he could feel me looking at him. I then heard him say "could someone please get G out of here." So, let me re-phrase. I didn't feel like a number, it was more like a letter. We were in room G. Our nurse practitioner called this morning to check on us and ask some questions. I expressed to her that I didn't feel as though I had any explanation as to "why" this was going on. She asked me if they did x,y, and z. I responded no, no, and no. She was concerned, and is getting all of her blood work and assessments to re-evaluate. So, we still don't really know whats going on with her. I kept her home from school today to rest and just keep an eye on her. She and Finley have really enjoyed playing at home today. I made them a tent to play in, been giving horsey back rides, played barbies, and tickled a little. They are having a popcorn snack, and since I've been typing it's all over the floor and couch. Time to get the Dyson out! Time to give my attention back to them! Thank you to everyone who emailed, facebooked, called to check in, or give their words of comfort and prayers. It means so much to know there are so many of you who are thinking of Liv and the rest of us and sending up a little prayer! We'll keep everyone posted!!!

An explanation

A lot of people have been asking me what this Pepsi money means. What is a gene therapy and how is it applied. Through a friend of a friend, here is the explanation.

The basic principle of gene therapy is to introduce a corrected gene to the body so it is taken up & begins to work properly. In the case of Sanfilippo Syndrome the gene that is involved in specific enzyme production for each type (A, B, etc.) is damaged. The corrected gene is put into a “vector”, or harmless virus, which is introduced to the body. This allows the gene to get into the cells where it can begin to function & produce the missing or broken enzyme. Unlike ERT (enzyme replacement) & drug therapy which requires lifelong dosing, gene therapy is done once – if successful the body takes over & reproduces the corrected gene.

Dr. Fu tested her gene therapy on Sanfilippo Type B mice using a single IV injection. Her research is so significant because the AAV9 vector she used passes through the Blood Brain Barrier & the corrected gene is widely dispersed throughout the entire body. Dr. Fu was not only able to extend the lifespan of the Type B mouse colony, but more importantly showed clearance of the storage caused by Sanfilippo & improvement of cognitive & motor functions.

Based on her results the next step is human clinical trials. It will take $1,200,000 to do the necessary toxicology, trial design, vector production & FDA submission to get there. Ben’s Dream – the Sanfilippo Research Foundation - has already granted Dr. Fu $200.000 to start the process. If won, the Pepsi Refresh grant will provide another $250,000 toward that goal – focused on vector testing & production.

Dr. Fu believes that she can apply the same technique to Type A. A Life for Elisa – the Sanfilippo Children’s Research Foundation - has granted $160,000 to replicate her Type B results on Type A. This money is outside of the dollars needed to bring Dr. Fu's original research to human clinical trial.

Even with the Pepsi Refresh grant we still need $750,000 to get Type B to clinical trial. If we are unsuccessful, it will not be possible to advance A or any other type beyond mouse research. We need to work together to bring Dr. Fu's original research to human clinical trial as soon as possible.

This, to me, sounds like a lot of money and almost unreachable. But is it???? We have so many people that are on our side to fight this fight with us. I would think that if we all rallied together, raising this money would be simple. Hell, if everyone in the state of Illinois donated only $1, that would be $12 million dollars to save a lot of childrens lives. (excuse my french!!!) Time IS NOT on our side. Everyday means a little more build up (GAGs) which means, well, I don't want to think about what that means. Let's put our heads together and let's raise this money. Come on Illinois, make a difference!!!!