Monday, January 31, 2011

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.

Sunday, January 30, 2011

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.

Friday, January 28, 2011

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!

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 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.

Thursday, January 27, 2011

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!!!

Wednesday, January 26, 2011

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!!!!

Monday, January 24, 2011


My friend, Lis, placed this word on my heart. It really is a great word that I intend to adopt with everything I put my heart into. I really want to make a difference. I desperately want to help others, and help my family. I want to be so intentional at LIVing my life. I want to be the most intentional mother in the world!!!!! I want to give both of my girls every opportunity that I can. I want them to know how special and loved they really are. I want to be intentional in my Faith. I want to be "salt and light." I want to resonate, with my actions, what is in my heart. Meaning, my love for our Lord and his Law is how I want to LIV my life.

So, with the word intentional, I entered a contest. It may be bold what I requested, but I had to try. If nothing comes about with the contest, at least I've educated one or two more people about Sanfilippo Syndrome, and my beautiful family. Here is what I entered.

In 2011, I resolve to be intentional. Especially in my childrens lives. Livia, 4, has a terminal illness called Sanfilippo Syndrome. Finley, 2, is her sister. Since her diagnosis, we know how important it is to make everything matter, to be intentional in everything we do. Since her disorder is so rare, our foundation focus is to spread awareness and funds for research. I want to be intentional in their lives by providing every opportunity for them to the best of our abilities. I want to keep them safe. We are blessed with the home that we live in, but it is not handicap friendly. Livia's future includes, but is not limited to: multiple surgeries, loss of communication, loss of ability to eat and walk, loss of her life. I want her life to be purposeful and fun. If we had our mortgage paid off we would be able to ease the worry of paying for all of her medical bills, save for a safe and handicap friendly home, and most of all be intentional with our money to help others and provide opportunities for our kids!

We'll see if anything comes about with this. In the meantime, keep voting! Only 8 days left until the Pepsi Refresh is over. We've held 1st place for a long time. We'll see if it pays off on Feb. 2nd when they announce the winner. GO TEAM SANFILIPPO!

Wednesday, January 19, 2011


For the past few months I've started whispering in Livia's ear. I say the same things over and over again. I do this several times throughout the day. My hope for this is if one day she isn't communicating, or life is very scary, I can whisper these familiar sayings to her and it will bring her comfort. I want her to always feel safe and secure with me. I want to be her comfort. She is so precious and easy going. I hate that her life isn't going to be easy. I'm not saying life is easy, but unfortunately, even if a cure or treatment does come about for her, this is going to mean routine doctor visits, infusions, etc. Believe me, I want this over the alternative. But I'm realizing that this isn't all just going to go away. This realization has made me want to work even harder. To fight for our children's lives and to tell her story. I'm proud that Livia's face is all over facebook and that she and her MPS friends are touching other people's lives. I wish it was for another reason, but it's not. This is our life and we are going to make the most of it. I wish I had all the resources and knowledge to do everything that I have brainstorming. I've been working on one of my resolutions, the not being afraid to ask for help resolution. I've had talented people offer their help and time. It's awesome. It humbles me to know that there are people who really do want to do something to help us out. If only we all couldn't just "pool" our talents, knowledge, and strength's to help one another out, don't you think this world would be a better place to be in? Anyway, I kinda got off on a soap box rant. I just want to thank all our friends and family out there who are voting everyday for the Pepsi grant. It is HUGE that we are in first place. Just a month ago the average person had never heard of Sanfilippo Syndrome, now we are ranked 1st. I think there are over 100,000 teams, people, foundations out there going for the 250K grant. It's great that we are making such a big impact. Keep it up until Jan. 31st at midnight.
As you tuck your kids into bed tonight whisper something in their ear that will bring them comfort. Even if its been a day of frustration, trouble, or sadness. You are your biggest comfort to your child. Let them know. Let them know that they are your heart. That you love them more than life!!!!

I'm proud to be Livia and Finley's mommy! I'm proud to be fighting and making a difference! Please feel free to share this picture. Make it your profile pic or just email it to your inbox. Help keep this going strong!

Thursday, January 13, 2011

Pugil Stick Champion

Jake has a really good way of describing a situation or explaining his emotions by relating them to another. Yesterday was a hard day. Emotionally for me. It's unusual for Jake and I to both have a hard day on the same day, but when he walked in the door last night with red eyes swollen from crying, I knew he was having an emotional day as well. He's been having a really difficult time at school. No offense to any high schooler's reading this, but MAN.............some of you are hard to handle! He's in charge of the discipline at the HS. For those of you who know Jake, this job is hard for him since he is such a social person. Jake is such a realist and thrives on logic. (I've come to really NOT like the word LOGIC!) Anyway, the issues of school, having late nights, Livia, meetings, meeting deadlines, and worrying about an emotional wife brought Jake back to his Pugil stick Championship in the military. He compared this victory to how he felt life was coming at him. It was he and another guy in the final round of this game. He told himself that if he just kept swinging, eventually the other guy would have to stop. When Jake puts his mind to something, he will accomplish it. He won. He swung and swung and swung and eventually the other guy quit. He said that he feels like he keeps swinging at life, but life isn't giving up. Like we are taking one step forward just to take 10 steps back. I get so strong and get so focused to move forward. I'll open an email or see a photo on facebook just to get pushed down. I sooooo badly don't want our vulnerabilities exposed, however, I'm not going to be fake or pretend like everything is hunky dory. Facing the truth that our daughter has a terminal- whatever you want to call it- is hard. Knowing that we are going to fight with every last breath of our being, is exhausting, but we are all Livia has. We are not going to put our Pugil stick's down until we win. Keeping our faith and trust in God and knowing that His Will will be done can easily be pushed to the side when you have 2 young children that require all your attention. God is suppose to be placed #1 in our lives. Above everything. I hunger for His word, it really does bring me comfort and peace. I have amazing people in my life who share scripture with me and I can't tell you how much it helps me, and grounds me. It's hard, though, to make that time (for Him) during my day to bring me peace. On the hardest day's, even though I know better, I want to hide from it all.

Matthew 5:14 "Here's another way to put it: You're here to be light, bringing out the God-colors in the world. God is not a secret to be kept. We're going public with this, as public as a city on a hill. If I make you light-bearers, you don't think I'm going to hide you under a bucket, do you? I'm putting you on a light stand. Now that I've put you there on a hilltop, on a light stand—shine! Keep open house; be generous with your lives. By opening up to others, you'll prompt people to open up with God, this generous Father in heaven."

Thank you, Stefanie, for sharing this with me. I do want to shine. I don't want to be remembered as the mom who was always sad, never fun to be around. I want to walk through life with my head held high and proud of what we are doing. I want to be an example, a positive and OPTIMISTIC example. More than anything I want: Matthew 25:23 "His master replied, ‘Well done, good and faithful servant! You have been faithful with a few things; I will put you in charge of many things. Come and share your master’s happiness!’

For today, I will be happy. I will shine in my children's life. I will be a positive example for them and teach them about our Savior. I will do what I can. I will not stress about what I can't accomplish. I will swing my pugil stick because I am determined NOT to give up! AMEN!

Tuesday, January 4, 2011

An easy way to help

Friends and Family...........Pepsi is giving out a $250,000 grant and all you have to do is vote everyday for the rest of the month. The group that has the most votes wins. This grant would mean money for research to help find a cure to save our children's lives. This is free and easy. You can vote multiple times a day, and even text a vote in. We are currently in 11th place. That is really promising seeing how many groups are in it to win. Right now a Monkey refuge, Mark Twain's historical home re-vamp, and a girl's summit are ahead of us. I also just read that a man is staying on top of a lion's cage at some safe haven in order to raise money for their cause. I think it's great that people work so hard for the good in this world. But honestly, we are talking about saving CHILDREN's lives. Seriously, I can't think of anything more important than human life. I really do care about other causes, but I can't sway with this one. My heart is in this world for good, all good. But let's fight the good fight for our kids. Please help and please help pass the word.

Saturday, January 1, 2011

My heart

Livia communicates really well with me. She is able to tell me when something hurts or when she wants something that is out of reach. She tells me what she wants to eat, or doesn't want to eat. Her drinks of preference are milk, water and tea. I love the simple requests that she makes. Her voice is like music to my ears. The reason for this post is to put something out there that may someday have meaning. It's not everyday, or even once a week. It's very random but it's something Livia try's to tell me and it's the same every time she does this. She will get my attention, look me in the eyes (which is rare) pat her chest over her heart and tell me "Mama, my heart." Sometimes she will precede the mama, my heart with "the doctor." Sometimes I think she is telling me that the doctor listens to her heart, but my gut tells me that's not it. I feel like she is telling me there is something wrong. Maybe it's nothing, maybe it's something.