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10.18.2013

My Birthday Breakdown


Because of the nature of my job, Justin never gets to go on overnight retreats with our high schoolers.  I am in charge of all the details from booking, to schedules, permission slips, etc....except for our fall retreat. Fall retreat is with a number of other area churches and I don’t have a lot to do with the actual weekend so the option was open for Justin, instead of me, to go. So, with my blessing, he went but that meant all three kids, all weekend for me. Stubborn as I am, I really wanted to do this whole weekend with no help. I mean, I am their mom, how hard could this be?!

Now, in our home, one of us leaving takes days of strategic planning. We can’t just load up the kids to run to Target to grab milk or toothpaste on our own.  So, whenever I leave, I try my best to think though every need Justin could possibly have when I am gone and plan for days, run to the store, do laundry, plan meals, and get childcare.  However, I forgot to plan for myself to be home.  

Everything started to unravel about 30 minutes after he left.  

Once a month on Fridays, a wonderful group of people at Agape Church in Waukegan hosts a respite night for Jayden and Brooklyn (and others).  So, the first weekend challenge was to load up all 3 kids, go to Wendy’s and feed them in the car, and get them in the building without running off.  But before all that, I needed to brush my teeth.  And then it happened.

He took the toothpaste. 

Now, I am an avid Amazon bulk shopper, and I should have had a tube hidden in my stash but I didn’t.  I was a bit annoyed, but I was trying not to bother Jut so I grabbed some kiddie bubble gum paste and a kid to load up in the van, only to find all the seats in the van removed.  Justin never thought to check the van because he was in a hurry to catch the bus himself, so I frantically put the van back together, “brushed” my teeth, and loaded up the kids.  I am disappointed to say, I didn’t even last 1 hour before I texted a nasty text about the toothpaste and van. Augh.

So off I went to Wendy’s. I fed all 3 while sitting in the parking lot with them strapped in and me on the floor trying to not be kicked by Jayden. I then changed their clothes and diapers, arriving at Agape only 5 minutes late. After, Ellie and I had a nice time running to Target for toothpaste and milk, and Marshalls to get a phone charger (cause my phone died en route to Target).

I got them home, in bed, and had a great night of sleep (which is rare in our house).  But, my success was short-lived.

Saturday morning, it all fell apart.  Ellie has been teething and this means trouble. She whines, cries, doesn’t eat, wants to be held, and is generally unpleasant. [I think my ears were bleeding by the end of the day.]  Jayden was “manic”. To us, this means he is a ball of energy, laughing, running, destroying, loud and difficult to control.  And Brooklyn was naughty.  Plain and simple. She gets in moods like any kid where she is just difficult.  She was pulling hair, hitting, throwing things, and just naughty.  This set the stage for what was to come....a costume birthday party for cousin Lucy.

Lucy was born 4 years ago, during the height of our diagnosis days. Actually, during the weeks between finding out Jayden had MPS and Brooklyn’s diagnosis.  I remember sitting outside the birthing area, waiting to see Lucy, while on the phone with a woman from the National MPS society. Scripture says, “rejoice with those who rejoice, and mourn with those who mourn”, so as Rian wept for us, we celebrated with her. Needless to say, the days surrounding her birthday were difficult.  We all secretly wrestled with why God chose Jayden and Brooklyn to have a terminal illness, and Lucy to be perfectly healthy.  

Birthday parties, I have come to realize, is a huge trigger for me emotionally.  For a number of reasons, I want to avoid other kid’s birthday parties like the plague.  I desperately try to not be selfish, and look at all the positives, but I can’t help it, they are just devastating to me.   My “birthday breakdowns” have happened a number of times since our diagnosis, but it wasn’t until Saturday that I have been able to pin point the feelings of why they are so difficult.  
Please understand, it has nothing to do with the child having the party. Whether they are friends or family, we rejoice that our loved ones get to celebrate their child turning another year older. We are blessed that our children were included in the invitation. We are thrilled to be doing life with people that love us and don’t want us excluded. We are blessed to love all these children. But that doesn’t stop the emotions from overwhelming me.

My “birthday breakdowns” evoke emotions, that when put to words, bring me to tears. Birthday parties are like funerals for me. They remind me my children are different. They remind me I am waiting for my children to die, and with every year that passes, they are getting closer to death.  They really don’t have friends. The kids naturally gravitate towards other children, leaving me (or Justin) playing with Jayden or Brooklyn alone. When all the other parents are holding their beverages, chatting and laughing, Justin and I are in the bounce house, going down a slide, or in the corner trying to wrangle our children.  Our friends and family get it, and try their best to include us, but their extended friends and family....look at us with pity.  We are commonly introduced as, “you know....the parents of the kids I told you about” followed by a sympathetic sigh and look of pity.  Sometimes, it is followed by a, “you are so strong, I don’t know how you do it...” or a sweet hello to our children.  All the while I am thinking, “if you only knew how broken I feel...” 

I feel so alone in those moments. No one gets this but Justin.  And this day, he wasn’t there. 

As I am feeding my seven year old, their children are off playing. While they are chatting, I am changing diapers. While the other kids laugh and play with each other, mine are left out. The only time they are engaged is when a child gets “encouraged” to include Jayden or Brooklyn.  None of this is wrong, I am just jealous.

I want what everyone else has and I hate that. I love my children to death, but I am ashamed to say that I am embarrassed of their behavior at times. I want them to have friendships that are genuine and not forced. The older Jayden gets, the less parties we get invited to. He just doesn’t fit in. He can’t just be “dropped off”.   He can’t relate.  It just marks how far away he is from a typical second grader. 

Birthday parties force me to acknowledge the truth.  I don’t have to see him being stared at, made fun of, or ignored anywhere else. We control our environment to protect our hearts. He is only around his same age peers at church, and I go to service so I don’t have to see it.  I don’t have to hurt if I don’t look.

Back to Lucy’s 4th birthday party. Heading into the party I was stressed. And, my fears were all realized as the painful minutes ticked by.  And then it happened. I left. About 30 minutes into a party, it becomes too much for me to handle.  When Jut is there, he silently talks me though it, and gives me the eye to suck it up for the sake of our friends or family, and I can slap on a fake smile and small talk for an hour or two.  Without him, I run. Fast and frantic. "I need to get out before I breakdown", I think, and run I did.  I got all the kids in the car and peeled out of the driveway....not saying good-bye in fear of breaking down.  

How selfish. I know. I cried all the way home and the rest of the night.  I am crying now.  It is the one area I just can’t quite work though. It hurts me to my core to acknowledge these truths.

I love my friends and family, they continue to try and include my kids. I know they love us and are teaching their kids to do the same. I guess I wish they didn’t have to. I wish it wasn’t us sometimes.  Somedays, I wish Jayden and Brooklyn just fit in. Our friends and family continue to invite us, and we continue to go. The worst thing would be to not get invited. So even though we grieve, we celebrate being included in the lives of their children.

One of the things that killed me was Brooklyn. She cried so bad when we were leaving because she so desperately wanted to stay. She doesn’t see the world as I see it, and for that, I am thankful. She loves her cousin, Lucy, and Jayden enjoyed being in the bounce house, too. I know this is my stuff, and I just need to get through it. I know I could cry, be messy, ask for help, express my feelings at any birthday party to any friend, and they would listen and support us.  But, I never want it to be about me...so I feel trapped.

I am taking an online course through Joni and Friends, called Beyond Suffering, and one article reminded me of my experience. Dr. Baker says, “the action of confessing the truth out loud changes us. When we take the convictions of our heart and speak them out loud something is transformed in us. Just as confessing the truth in our hearts about the Lordship of Jesus connects us to God spiritually, so, too, confessing the truth in our hearts about our deepest feeling connects us to God and others emotionally. Then we are no longer alone in our pain.”

9.13.2013

pride or peace?


The kids are on their way to school. Ellie is quietly sitting in her seat in the car drinking a bottle. I actually have boots on with a heel and my hair is straightened. I'm dressed and I look like a grown woman-instead of my signature gray hoodie and sweats. 

My coffee is reheated in my favorite cup.  I'm just looking for a cardigan to wear. The teal one. So “Pinterest”, I think. My casserole is warm in a fancy casserole dish carrier. And I think I might even make it on time. 

I'm headed to Jayden’s school for a parent meeting. The house, although not perfect, is decent enough to have company over unannounced. 

Somewhere long before I actually leave the driveway something usually goes wrong. I usually don't make it this far, this put together. Ever really. And I am wrestling with the emotion that's rising up in me. Is it pride or peace?  

It's 9 AM. Ready to go just need to grab the keys. This is what I long to feel. Put together. Organized. Smelling ok. On one hand, I feel peace. When my house is clean and I am on time and looking presentable, I feel calm.  But, on the other hand, I feel prideful. There is a small voice inside of me saying, “see, world? See how put together I can be?” If honesty gets the best of me....dare I say.....I want people to see? I want to be praised. THAT piece of it, is pride. I don’t think a put together moment is wrong when it brings a calm, a peace inside of me and my first reaction is to give God a shout out. 

I love feeling like I got in the car called “time” and am coasting in it, instead of frantically chasing after it. I love when I can sit and breathe. Or type and have coffee on my back porch. I love weeks like this where I become productive and clean the basements and closets.  But, the question, I guess, remains. “Who am I trying to please? Who is getting the praise for this peace?”  I always need to shift my focus to an audience of one.  I need to talk down off the ledge, my voice of pride.  I don’t need people to see how calm I am. I am really fine wearing sweats. I know the reality of moments like this. They stop. And, really, they are impossible to maintain. Somewhere, long before I actually leave the driveway, something goes wrong. 

Like, our van showing that the air is low in the back tire. Truth. Luckily, I called my manly husband, Justin, who works next door and told me to just go on over to the shop and he will put some air in it.  No problem, I think, just a few minutes late.  

Wrong turn. What was I thinking?! I know how to get to Jayden’s school! 

Now, 10 minutes late and Ellie just fell asleep so now I have to wake her and hand her to a stranger for child care. She did great, but my casserole didn’t.  It continued cooking all the way there and was brown on the  bottom.  And, common to me but, maybe not to others, this meeting is a parent support group for those of us who have children who have severe to profound disabilities. Not your average PTA meeting! (The parents I met were great and the content was very helpful.)

Sometimes, even in being vulnerable with the not so “put together” things, I struggle with pride. I have generally found peace in this world of special needs....I see the blessings, and have found my seat, and strapped in, so to speak. I think my seat number is B2.  Second row, second seat, on the special needs tilt-a-whirl. I want people to see me. To see my children. To cry, “look at me!” “Notice me, help me, love me anyway! Include me!”  That too, is pride, just less people would admit that.  

Audience of one.

I love Paul’s words in Galatians 1:10, “Obviously, I’m not trying to win the approval of people, but of God. If pleasing people were my goal, I would not be Christ’s servant.”  My peace should come from seeking God, not a clean house or cute boots.  Not from the “I’m so sorry you have to ride the tilt-a-whirl” comments, either.  Peace comes from knowing and trusting Jesus. Period. Everything else is counterfeit peace, I think.

Pride or peace? I don’t know. Hopefully peace.  


Col 3:23 Work willingly at whatever you do, as though you were working for the Lord rather than for people.

9.09.2013

why we do youth ministry.


 Trever Carter is an amazing young man that we have had the honor to get to know quite well over the years as he has been a part of iMPACT, our high school ministry at Immanuel Church.  He is compassionate, funny, and has a servant's heart.  Jesus looks good shining through him. He is a blessing to iMPACT through the way he serves and loves, and a personal blessing to our family. He is even on time, thoughtful, and responsible...AND 16.

He adores Jayden and Brooklyn, and Ellie too, and has really learned a lot about life from his interactions with them. Over the summer, we were blessed to have him in our house every week for deeper, our mid-week Bible study and I went on a mission trip to San Diego with him. Trever amazes me. Even though he would be the first to admit high school is hard,  and he is no where near perfect, he continues to amaze me with his desperate pursuit after Jesus. Trever has a personal conviction to follow Christ and it is beautiful. His family doesn't attend Immanuel, and I am inspired whenever I see a student like Trever, attend youth group on his own.  He has found a second home with us, and I am so glad he is family.

For his English essay, he asked us if he could share about our children. With his permission, and our grateful heart, I wanted to share what he wrote.

THIS is why we do youth ministry. HE is why we do youth ministry.  It's a DUAL blessing, really.


Trever Carter
Mrs. Schmitz AP Lang & Comp 4 September 2013

Not So Small Wonder
The rhythmic sound of a bouncing trampoline stays constant from the other room, providing a backdrop to the rest of the organized chaos that echoes through the house.  A wagon takes a gentle roll across the hardwood floors, giggles coming from the back seat. There’s a gentle tug on my shorts. I stand in the middle of the room, and can never help but to simply smile.  In minutes like this, everything clicks. Life is precious, love is golden, and moments are to be savored.
Jayden and Brooklyn are the source of most of these commonplace noises that radiate throughout the household. These noises of laughter and melodic toys would typically constitute a, by definition, normal life. One protein, however, would change the name of the game for this family. One protein, a building block of a molecule that cannot even be seen without the ten thousand times magnification of a man-made lens, would be the protein that changed the Boyce’s lives forever, and also mine. When Jayden was about three, and Brooklyn newly born, their parents received devastating news of genetic illness. A one in twenty five thousand chance has occurred not once, but twice, and an autosomal recessive disorder would attack those who could barely walk.  This news would not only dynamically alter the lives of the Boyce family, but in turn catalyze change in the lives of everyone they met. Sanfillippo Syndrome was the curse, the disease, the diagnosis. This means these kids will grow up with special needs, function drastically lower than their age, and live short lives due to the inability to process this one simple molecule. Sanfillippo is now a word that is hard to hear; it is a word that sends icy shivers down my spine and makes me ask God one simple question, “Why? Why would this happen to a family I love? Why them?” Shortly, however, I would find out.
Now the dwelling these children walk in is a miracle in and of itself, a blessing that epitomizes the positive ramifications of faith. My church reacted to Jayden and Brooklyn’s diagnosis in a way that was to be expected by those who are basically family-- with a burning sympathy and a yearning to do more to help the Boyce’s. And that is exactly what transpired. Over a relatively short amount of time, the people of my community conjugated to raise a plethora of money and to build a handicap accessible home for these two angels. This project was ambitious, a goal that almost seemed to sit on the horizon, just out of reach. Yet with every passing day, week, and month, the horizon seemed to get closer, inviting everyone into its warm embrace. Friends, family, neighbors, and acquaintances-- everyone came together with one thing in common: indescribable and unexplainable love for Jayden and Beeba. To help raise money, many endeavored on trips they thought they would never take.  Some overcame an inexplicable fear of public speaking in order to deliver a blueprint of pledges; some went from never running a mile to running thirteen; some jumped out of a plane despite crippling fear of heights. Yet the best of all was that most broke the manacles of self-satisfaction and began to live for others.  They gave time out of theirs days to pour cement, lay foundation, and eventually begin to turn a house into a home. I was humbled to see a community morph even more so into a family, coming together to achieve a common goal. The result was an unbreakable bond created through hardship and resilience, as well as a beautiful home for a beautiful family. It truly is a miracle. 
Yet the small sets of feet that are running about the house, creating a pitter-patter as they go, are even more of a small wonder to me, both figuratively and literally. Jayden walks off of the trampoline, chewing on his fingers, and takes hold of my hand in his little one.  I begin to make funny noises- boops, baps, and whoops- tickling seven year old Jay, telling him I love him: anything to get one of his golden smiles. Four year old Beeba meanders from down the hall, graciously singing ‘Jesus Loves Me’. When I say hello, she gets an ear to ear grin, blushes a red vibrant as a crisp fall apple, and runs to mom or dad. Crossing the room, I pick little toe-headed, blue eyed Ellie up and throw her in the air. Their little sister is just as dear to my heart as Jay and Bee. While Ellie is perfectly healthy, Jayden functions around six years lower than his age, and Beeba functions around two and a half years lower than hers. I still cannot grasp how one small, minute, seemingly invisible molecule could possibly create a six year gap in functionality.
I have learned more about life and love from these kids than I could have ever imagined, and that is why they are such a wonder to me. Knowing these kids and growing to love them has taught me how precious a life is. And that means any life, really, especially those of special needs children.  Like a light on a hill, these kids epitomize what it means to truly be special. They giggle, dance, hum, and play. From them, I have learned about genuine love that knows know bound, no stereotype or judgment. I have learned peace, and being content with the hand I have been dealt. I have learned patience, and what it truly means to put it to work.  Jayden and Beeba know not what others think: they possess child-like faith in God in which I can only dream about. Stefanie and Jut, their parents, have taught me how to love and cherish a child. To me, these kids are irreplaceable; I love them more than anything. They answer the afore mentioned cry to God, “Why?” They respond by showing me life is not promised or guaranteed, yet it is a gift. There is no cookie cutter guide to the progression of life, yet more of a serpentine path that changes as you go. They have shown me what it means to be special, to value a life, and most importantly to love one another.  I look at human nature differently, I view people through a different aperture, and most importantly, I love these kids that much more.
Jayden’s laugh is ranked at the top of my list of my favorite things in the world. One step of intensity above a giggle, a true laugh is not often evoked by me. When it is, my next week is set with smiles every time I think of it. As he climbs next to me on the couch, snuggling up for bed, I think about life. I think of how short it is, to make every moment special and then cherish it. Love is the greatest gift, and I am to give it gladly and share it commonly. I am reminded that God’s plan is not always as happy as we think it should be. It is full of troubles and hardships. Yet life is beautiful in every shape it comes in. So my small wonders are not so small. Though they may weigh less than 100 pounds, they are huge, full of life and love.  Jayden and Brooklyn make impacts on everyone they meet, whether or not they will ever come to know it. These angels teach, comfort, and love: every genuine thing a person could want.

9.03.2013

hospital love.


I am weird, {for more than this reason, I know} but I really like hospitals.  I like being the patient, and the mother.  I feel safe. I feel when I am the patient, I have trained people caring for me and I don’t burden my loved ones.  I am also more forgiving and patient with strangers, and a sucker for pain meds. 

When I am here with my kids, (I am writing from a chair next to Brooklyn as she recovers from a tonsillectomy and adenoidectomy at Children’s), I feel free. Free to be the mom and not the doctor. Sure, I catch puke, change diapers, and try to nurse her back to health....but at home I don’t have a red nurse button I call for help. I also have to only care for one at a time. 

And, I like being here alone. I don’t have to fight for attention between daddy and Ama. I don’t have to share the bed (with daddy, not Beeba). Kinda selfish, but I like being the one they want for comfort.  I also feel weirdly relaxed. Because of all the wires and beeps, I feel like someone is watching her so I don’t have to worry. We don’t have things at home they are connected to that tell us something is wrong or the people who would rush in, and fix it.

I know, I’m weird. 

I guess if something goes wrong, a hospital is the only place I want to be.  The temperature, the sterile smells, the white noise, the drugs, it all puts me to sleep. Literally, I struggle to stay awake when I am in a hospital. Did I mention the way I cope with emotionally stressful things is sleep? I was napping when I got the call about Jayden having Sanfilippo.  

Hospitals also force me to stop. Nothing like a hospital visit stay to make you sit still. No laundry, no distractions, no “to do” lists. No one trying to get a hold of you, no expectations to do or be anything but present for your loved one or resting. Between the dosing, I can check Pinterest, catch up on blogs, and even skim Facebook. 

Hospitals also give me laser-sharp perspective. You can’t focus on much else when you're at a hospital. Things get done without you, whether you like it or not. 

Clearly, the one thing that sucks is (typically) the WHY you are here. It is never a spa weekend.  But, even though the reasons are not that great for being here, I have a growing appreciation of God’s provision in times such as these.  We are so blessed to even have access to an American hospital. 

Funny. When I think hospital, I think hospitality, or rest. Or a common word pricture as the church as a hospital for broken people. When I googled “hospital”, this is what I found at www.christianforums.com

The word hospital comes from the Latin word hospitalia, which means an apartment for strangers and guests. 

The practice of hospitality was enjoined as a virtue upon the early Christians. In the early Christian times, hospitalia was a place where strangers and pilgrims were received and cared for. At that time, it was more a place of hospitality than of medical treatment.

{my thought: I wonder if many sick made the pilgrimages also looking for healing, and a hospital was meeting a need on their journey?}

In the early Christian times, Christians were encouraged to make pilgrimages to the many holy places of the Middle East. For several centuries, travelers from Western Europe made their way into this part of the world. Many of these pilgrims travelled without money, believing that they would receive assistance on their way from other accommodating Christians. Many hospitals were established, particularly in remote and dangerous places. These services were extended as tangible gifts in the spirit of Jesus Christ. 

Many of the great hospitals can be traced to the period directly following the Council of Nicaea in 325 A.D., when the bishops of the Church were instructed to go out into every cathedral city in Christendom and start a hospital. 

As time went by, medical treatment gradually played a bigger and bigger role in hospitals. From the 16th century onwards, hospitals began to take on its modern meaning as we know it today.

Maybe that is why I feel so connected to hospitals.

I was sharing with a dear friend who adopted over a year ago.  For years, we shared in her journey grieving a miscarriage, years of trying for a child, saving for adoption and becoming new parents 24 hours after getting a call they were selected.  Now, things have settled down, her son is over a year old. I asked her if she missed those harder times when she didn't see the end in sight.I know I look back on those months before and after Jayden’s and Brooklyn’s diagnosis and miss the intimacy and dependance I needed on God and how He carried me.   in relation to her dependance on God, and she felt the same.

But, He didn’t just carry me, He also gave me a gift. A gift I could get in no other way then through the valley.  I am reminded of His provision, and built a mental alter so I never forget because I know there are darker times ahead for us. I know there are more hospital chairs, more tears, more sleepless nights, more beeps. I know I will question God, but I want to remember in those times of darkness, He is faithful. 

When we were serving at the elderly day center and the food pantry in San Diego this summer, I mentioned this thought to our students. Many of the people we were serving could teach us a thing or two about God’s character in the midst of suffering. When a man who is homeless with barely nothing shares the little he has,  or when someone who is in a storm themselves and takes the time to say thank you with her infectious personality, like our friend Phyllis... it is like God’s character is sometimes best revealed against the background of brokenness.  A light in a dark room is much more noticable than the same light in a sunny room, yet it doesn’t necessarily mean it is any brighter.  

But even with all the beauty beneath the suffering, I’m reminded we were not created to want to suffer. It proves so much to me that the world is not how God intended.  Revelation 21:1-7 says, Then I saw “a new heaven and a new earth,”for the first heaven and the first earth had passed away, and there was no longer any sea. I saw the Holy City, the new Jerusalem, coming down out of heaven from God, prepared as a bride beautifully dressed for her husband. And I heard a loud voice from the throne saying, “Look! God’s dwelling place is now among the people, and he will dwell with them. They will be his people, and God himself will be with them and be their God. ‘He will wipe every tear from their eyes. There will be no more death’ or mourning or crying or pain, for the old order of things has passed away.” He who was seated on the throne said, “I am making everything new!” Then he said, “Write this down, for these words are trustworthy and true.”

He said to me: “It is done. I am the Alpha and the Omega, the Beginning and the End. To the thirsty I will give water without cost from the spring of the water of life. Those who are victorious will inherit all this, and I will be their God and they will be my children.
I love that promise.

Contentment has a funny way of numbing us to God, doesn’t it? When someone you love is sick, or even having outpatient surgery, you pray a little harder that morning, you become acutely aware of His presence because you NEED Him a little more on surgery day then laundry day. Maybe it’s just me. 

Maybe that is what I have grown to love about hospitals. Maybe I am weird. Hospitals bring me into a rich, dependance on God, the way only pain does. Time stops and I rest as everything important comes into focus and God gently reminds me that we were made for so much more. 

7.05.2013

A cure for Sanfilippo!?

We never put all our eggs in one basket. We learned that in the beginning of our diagnosis when everyone said "this option, that option" would lead to treatment or a cure.  So far, nothing has come.

We also never get our hopes up. At least our hope in earthly things.  We believe Jesus Christ alone is our hope and if He wants to cure our children, He will in His time, in His way.  We are called only to trust Him.

We don't know if gene therapy is going to be something He will use for our kids, or if restoration will come in heaven....but it is with great excitement we share this article.  Again, this could be everything or nothing.

I am thankful for the people trying to find a cure for our children.


Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models

July 2, 2013 — A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.

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The study has been published in The Journal of Clinical Investigation.
Sanfilippo Syndrome type A, or Mucopolysaccharidosis type IIIA (MPSIIIA), is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. Mutations in this gene lead to deficiencies in the production of the enzyme, which is essential for the breakdown of substances known as glycosaminoglicans. If these substances are not broken down, they accumulate in the cells and cause neuroinflammation and organ dysfunction, mainly in the brain, but also in other parts of the body. Children born with this mutation are diagnosed from the age of 4 or 5. They suffer neurodegeneration, causing mental retardation, aggressiveness, hyperactivity, sleep alterations, loss of speech and motor coordination, and they die in adolescence.
A team of researchers headed by the director of the UAB's Centre for Animal Biotechnology and Gene Therapy (CBATEG), Fàtima Bosch, has developed a gene therapy treatment that cures this disease in animal models, with pre-clinical studies in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord. The virus, which is completely harmless, genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, like the liver, where it continues to induce production of the enzyme.
Once the enzyme's activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal's behaviour and its life expectancy return to normal. While mice with the disease lived only up to 14 months, those given the treatment survived as long as healthy ones.
This is a joint project between the UAB and the pharmaceutical company Esteve. The study has been published in the online edition of The Journal of Clinical Investigation.
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Story Source:
The above story is reprinted from materials provided byUniversitat Autònoma de Barcelona, via AlphaGalileo.
Note: Materials may be edited for content and length. For further information, please contact the source cited above.







































ESTEVE SANFILIPPO
Sanfilippo project is a Public and Private Partnership (PPP) with the UAB (Universitat Autònoma de Barcelona) for the development of gene therapies for mucopolysaccharidosis, a group of inherited metabolic disorders caused by the absence or malfunctioning of enzymes needed to breakdown glycosaminoglycans, a group of long-chain sugars.

The program relies on state-of-the art science developed at the CBATEG (Center of Animal Biotechnology and Gene Therapy) of the UAB. The most advanced project in this program is the development of a novel gene therapy treatment for Sanfilippo syndrome type A (caused by the lack of heparan N-sulfatase or sulfamidase), a rare and devastating disease that leads to progressive and significant deterioration in mental status of children, who rarely live beyond their twenties. The project is based on a viral vector containing the human sulfamidase gene.

The most advanced project within the program has recently been granted Orphan Medicinal Product status by both the European Medicines Agency (EMA) and the US FDA, for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

EXECUTIVE SUMMARY
Molecule:
Adeno-associated virus (AAV) vector containing the human sulfamidase gene (AAV-
sulfamidase); new advanced (gene) therapy medicinal product.
Mechanism of Action: Induce long-term constitutive expression of the enzyme sulfamidase (heparan N-sulfatase). Therapeutic approach aimed as a curative treatment to correct the specific cause of the disease and both neurological and somatic pathological alterations.
Stage of Development: Preclinical
Clinical Indication: Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Regulatory Status:
• Granted Orphan Medicinal Product designation by both the EMA and FDA • Scientific Advice with the Spanish Medicines Agency (AEMPS) performed • Protocol Assistance Process with the EMA ongoing
Intellectual Property: Product patent application published on 15 December 2011 (WO 2011/154520 A1). Other patent applications in process.

GENESIS OF THE PROJECT
• Collaboration between ESTEVE and Dr. Fatima Bosch ́s research group at the internationally recogni sed Center of Animal Biotechnology and Gene Therapy of the Autonomous University of Barcelona (CBATEG-UAB).
• Currently, the AAV-mediated tissue-directed sulfamidase gene transfer project is being co-developed by ESTEVE and the Dr. Bosch ́s laboratory at CBATEG-UAB. ESTEVE is responsible for intellectual property, regulatory affairs, coordinating GMP production, preclinical and clinical development, and commercialization.
ESTEVE has exclusive worldwide commercial and license rights. GENE PRODUCT
• The AAV vector containing the human sulfamidase gene is a genetically modified viral vector derived from a wild-type AAV, a non-pathogenic virus. The recombinant vector has been designed to maximise the sulfamidase therapeutic transgene expression.
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SANFILIPPO
PRECLINICAL PROFILE
• Pharmacology, pharmacokinetics (biodistribution) and tolerability studies have been conducted in a mucopolysaccharidosis type IIIA Sanfilippo A mouse model (MPSIIIA mice) and in Beagle dogs using various routes of administration.
• The MPSIIIA mice closely reproduce the human devastating disease including the neurodegeneration, neuroinflammation, hepato-splenomegalia, and shortened lifespan. The human clinical profile presents with initial symptoms and signs associated with delayed psychomotor development and behavioral disturbances that typically start at 1-4 years of age; the clinical profile then evolves into serious behavioral problems, severe sleep disturbances and mental retardation, mobility problems, seizures, swallowing, respiratory and other problems eventually leading to a vegetative state. Mortality is 100% usually in the mid-late teenage years.
• Preclinical results support the safety and efficacy of the approach and its further clinical development which is currently ongoing.

CURRENT STATUS OF THE PROJECT
• Ongoing Protocol Assistance Process with the EMA, encompassing non-clinical and clinical development.
• Initiating GMP-like production in facilities considered as a worldwide reference for the manufacturing of gene therapy medicinal products.
SANFILIPPO’s project has been supported by The Spanish Ministry of Economy and Competitiveness. 

6.24.2013

Who cares?


We all have a desire to be liked. To be in the “in” crowd. To be successful. 

I think sometimes that desire is projected onto our children, and maybe for typically developing children’s parents, that pressure that they put on their children to be successful is so the child AND the parent looks good. For example, if our student is getting straight A’s, we also must be smart or disciplined, or if they are good at athletics, we too, are the mom or dad that everyone says hello to at the games.  Maybe it is our child that makes the newspaper, and yes, we are proud of our child, be we don’t mind sharing some of the light....I mean, we did teach them everything they know, right?!

In the world of special-needs, it isn’t much different. We too, are grasping for our children to be scene, known, loved, thrive, and in the spotlight. But we have also found a way to stand in the light. The problem is, no one would dare tell us we are prideful.  I know I can only speak for myself, but I was growing sense of pride regarding build with the Boyces.  I like sharing the spotlight. I like feeling “proud” of my children and like the attention. I like people asking how I am, I like sharing about our children, I like what God does through me.  I like people praying for us, commenting on my blog posts and telling me what a blessing our story has been. Satan is a twister, and can even take good, pure, things and make them yucky. 

I desire so much for Jayden in Brooklyn and their story, their life, to be significant. And I am realizing, me too. I want to matter. I want people to like me.  Even at 32.

So much so, I am willing to sacrifice hours and hours that I could be spending with them and their short little lives to create something that will bring acknowledgment, appreciation, and value to who they are. But deep down, I know that part of that is I want to be known.  I hate that part of me...and I want it to change.  I am realizing that I matter to God and that has to be enough. My children matter to God, and that has to be enough. He may choose to put our story on a huge platform or no platform at all, but I have to get my pride in check, regardless.

If I am completely honest,  I also feel a growing sense of self-inflicted pressure from the “keeping up with the special-needs-Joneses” to start a foundation or help others. 

Maybe is kinda like not putting your child in year-round club volleyball cause you want to spend time with them this summer, and know that sports are not everything....I mean everyone else is and that is what you have to do if you want your child to play, right? 

That is what you do to give your children’s life meaning in my world. Start a foundation.  If you don’t, they are just another face in the sea of other special needs faces.... and I am a bad mom.  I am selfish. I almost feel if I don't do something to help them leave a legacy on a grand scale, Iike start a foundation, that I am devaluing their life in someway.  I feel like it's just not enough to be a normal mom, like it doesn't give me significance or purpose. 

It's so funny, I notice how much I care about what people think even now my 30s and I thought I would totally be over this.  So much so, it affects how I parent, the things I like, and the way I dress.

My really been struggling with my shirt lately. I like the worn, vintage t but all the ladies versions have deep V’s in the front. I can never find just a crew neck.  It bothers me because I don’t want people to see my boobs. So when I'm home I've been wearing my shirt backwards.  That way, when I'm constantly bent over dealing with my kids my chest isn't sticking out.  

It's funny, I don't even know where it’s appropriate to shop in your 30s. I'm not quite ready for the grown-up section of cardigans and matching shells, but too old for 90% of the junior section.  

So back to the shirt incident. When I was over at a 3 year old birthday party, I was stupid and wore a V-neck shirt. I had a tank top under it, (I mean, I'm not a complete hussy) but every time I would bend over I felt like I was showing too much. I felt so silly and I was having this internal battle within myself should I do it?  Should I turn my shirt around?  What are people going to think of me? Are they even going to notice my shirt is backwards? Do I have enough confidence to do this? Why did I even where the stupid shirt!?  

In the middle of my interrogation of myself, I kept thinking about the concept of pride. Caring about people accepting me.  It bothers me when people are not accepting of my children because they still wear diapers, don’t talk, or chew. In fact, I even get insecure as I think about people watching me love on my kids. Will they think I am a weirdo saying, “ba, ba, ba, doe, doe, doe” as I get my 7 year old to smile?  Why does it matter? In my heart I am saying, who cares, but in my head I still think it.

I finally did go in the bathroom and wear my shirt backwards. And the funny thing is, nobody noticed. Nobody cared. And here I was so concerned with what people thought of me that they would say something. I want people to notice, but I want them to notice me and LIKE me. Some people even crave bad attention cause that feeds their pride as well. Bad press is better than no press, right?

But I only want people to notice the good I don't want people to notice the bad. I don't want you to see my flaws or my pride.  Especially when I still feel insecure it's really hard to be honest. 

What does it mean to really be authentic? Because being authentic comes with a whole host of rejection. People may not want to be around you or like you. Maybe I am alone in this, but, sometimes I wish I could be confident like other people or I wish I didn't care. In high school, I used to say I didn't care, but I did.  It’s much better but still, at 32, I can honestly say there are things that I don't do simply because of the way people might perceive me. One of the things that I joke about with my friend Angie, is that if I lived another life with no husband and no kids, I would wear sequin dresses with combat boots and smoke cigarettes at a café in Europe. You know, live a life that is so drastically different from the one that you all ready do. Or be a farmer. Live off the land and sell my veggies at a farmers market out of my 1940 rusty ford truck.  And maybe chew tobacco. Ok, maybe not the tobacco part.  

Which reminds me of one of my favorite quotes, quotation marks the grass is not greener on the other side the grass is greener where you water it. " I bet that cigarette smoking combat boots sequin dress girl would be wishing for a life with a husband and kids. And I would still be insecure because I was single and wearing funny clothes.

So in the spirit of trying to overcome my insecurity, or I have been intentionally challenging myself to do things outside of the box, like turn my shirt around at a birthday party, or sit in a chair on the side of the road while we watch a train pass and then run back into the car, or post my Lady Gaga costume as my facebook profile pic. 

That is the great thing about working with teenagers. You have to lead by example. How can I challenge students to try to live out their faith in real ways and trust if I can’t? We all need to find their strength, worth, security, and confidence from the very God who created us. 

Funny, even as I'm writing this I'm thinking about going in taking the cigarette part out because I'm thinking my mom and my dad are reading this. Or what in the world people think of me... I work at a church! But that's part of it I think. Being vulnerable. Not hiding the pieces of you that you may cause people to judge you or think differently of you. And no, I don't smoke, I don't wear combat boots,  and I don't have a sequined dress, or vintage truck for that matter.  But I'll be honest in saying that there are some days that I wish I did. And I'm ok with that.