Saying Goodbye

We headed to DC over the weekend, we went for Aiden's Memorial Service at Ft. Belvoir. I have hesitated a lot over blogging about Aiden, his last days, and his service. They are not my stories or memories to tell. I want to respect his family and I am scared that I will say or do something that would hurt or offend them, especially during this difficult time.

I am very glad that we were able to attend the service. It was nice to be there in person, I've communicated a few times via phone/email/text with Aiden's mom but it means so much more to be there and share a hug. There were a couple of other Sanfilippo families there and it is always nice to spend time with people who understand Sanfilippo syndrome, I think a good word to describe it would be fellowship.

Unfortunately we've been to a few funerals and memorial services. Military funerals always make me sick, literally when they do the roll call I feel like I'm being punched in the stomach, I have to force myself to keep breathing. Funerals for older people are easier. I remember my grandfather's funeral fondly (Mom I hope I'm not upsetting you by saying this). I got to see all my aunts and uncles and cousins. The sun was shinning and it was a beautiful day. He did pass too soon but he lived a long, full, life. I remember there being tons of people there. Funerals for children are so sad. Life cut too short, ending too soon. The truth is that we think about what it will be like when it's time for us to plan a similar ceremony for Olivia. Depressing but true. It was a touching service with a slide show of pictures of Aiden. We are so glad we were able to attend.

Aiden's Prayer

We little knew that morning that
God was going to call your name.
In life we loved you dearly,
In death we do the same.

It broke our hearts to lose you,
You did not go alone;
For part of us went with you,
The day God called you home.

You left us peaceful memories,
Your love it still our guide;
And though we cannot see you,
You are always at our side.

Our family chain is broken
And nothing seems the same,
But as God calls us one by one,
The chain will link again.

Christmas Traditions All Year Long

There's a little Christmas tradition we do around here that I just have to share. Yes, I know it's almost February.

After the Christmas decorations are taken down the Christmas Cards go into a basket on our kitchen table. Each night when we pray before dinner we include the Christmas card sender in our prayers. I love that we get a chance to look at the card again. People spend so much time choosing and sending Christmas cards, I like that I'm able to really give each card the time it deserves away from the craziness of the holidays! Over dinner Mike and I share information with each other about the sender. I remind him of people's names and the ages of their kids, he fills me in on where all his friends are. Even Peter and Olivia get involved as we pass the card around. Olivia likes the ones with pictures and Peter's favorites are the ones where people include pictures of their pets. This year we're trying to follow up that week with the person or family who sent the card.

Voting for the Pepsi Refresh Grant, What will the Money do?

A friend recently shared this explanation of what the money will be used for should Team Sanfilippo win the Pepsi refresh Grant. There are just a few voting days left, please take a few seconds (literally that's all it takes) and vote!

Gene Therapy in Sanfilippo
by Shannon Moyer McNeil

I know many of you have asked what gene therapy is and how it relates to Sanfilippo. Our friends at Ben's Dream wrote up this explanation and I thought it was perfect. Hopefully this can answer your questions and show just how vital it is that we fund Dr. Fu's research.



Please consider becoming a fan of "Ben's Dream". It is a fantastic non-profit organization, dedicated to finding a cure for Sanfilippo.



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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.



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The Great Toy Purge

I am sick of toys! I would so much rather the kids have 3-5 toys that they really enjoy playing with than rooms full of toys that go unused. The toys have invaded every room of our home despite my constant attempts to stop their random migration throughout the house. The kids each have their own rooms full of toys, there are toys in our bonus room (which has multiple functions--family room, office, play room), they have toys in the kitchen, toys in our bedroom, toys in our bathroom, toys in the living room. I can't handle it anymore. I've begun a major toy purge. I was motivated, the time was right, we were on the road to getting rid of some toys....and then I ran into a giant road block, Sanfilippo syndrome.

I read something the other day explaining Sanfilippo syndrome as childhood Alzheimer's. I can relate to that description. I've never really gotten rid of any of Olivia's toys, at first Olivia outgrew them and then I passed them along to Peter. Then Peter outgrew them and I passed them back to Olivia. Just imagine that for a moment, and allow me to put that into context. Olivia is almost 3 years older than Peter. These are her toddler toys, things she played with when she was 2 and 3. Peter played with those same toys but has since outgrown them, they don't interest him anymore. Olivia's cognitive abilities declined to the point that as a 4 and a half year old she isn't able to play with toys that are age appropriate for a 2 year old. So now I'm stuck at this Sanfilippo syndrome road block. Do I get rid of these toys? Do I hang onto them hoping that one day she'll be able to play with them again? I have such happy memories of Olivia (and Peter) playing with these toys, things were so much simpler then, we didn't know about Sanfilippo syndrome. Our little girl was just a beautiful, healthy, happy little girl instead of a beautiful, happy little girl with a devastating medical condition.

Please vote or a cure for Sanfilippo syndrome using the link above. Share it with your friends! Every vote counts!

Still Playing

I've gotten a couple of questions about the Drugstore game. I do still "play" but I have become a little more selective about what I buy. Some weeks are better than others but this week is a pretty good week. Here's what I brought home from Walgreens and CVS this week--total spent $16.66 and I earned $11 in Extra Care Bucks/Coupons to use on my next purchase.



At CVS--Poweraide on sale for $1.50, I bought 10 = $15.00
-$3.00 off coupon
Get $5.00 coupon when you spend $15 in products for my next purchase
final price--$.70 each

Welch's Grape Juice on sale for $2.88
-$1.00 coupon
final price--$1.88

Crest Mouthwash on sale for $3.99
-$1.00 coupon
Get $3.99 coupon for next purchase
final price--I made $1.00 buying this!!!

Carmex lip balm on sale for $0.99
-$.30 coupon
final price $0.69

Mixed Nuts marked down to $1.00

Valentine's Day Chocolates on sale 2 for $1.00
-$1.00 off 2 coupon
final price--FREE

At Walgreens--Huggies diapers on sale for $8.99
-$1.50 coupon
Get a coupon for $2.00 off my next purchase
final price--$5.49

Resolve carpet cleaner on sale for $2.99
-$1.00 off coupon
final price--$1.99

Valentine's Day Candy on sale for $0.59
-$0.20 coupon
final price--$0.39

Playtime at the Park

Olivia is doing really well lately. She seems to be more aware of her body and her surroundings. We've taken quite a few trips to the park and she really seems to enjoy it! Olivia also decided to go on the big kid swing. We usually put Olivia in the infant swing because she doesn't hold on and falls off the swing. Lately she's been more aware and has enjoyed swinging on the big kid swing. I don't know if this new awareness is only going to last for a few days or if it's a new phase. I'm trying not to think too much about it and just enjoy it!

 

Brave Little Guy

On the way to Olivia's therapy appointment this week we stopped by a new park. There was a perfectly appropriate toddler area that I was hoping the kids would enjoy. Olivia climbed right on.



Peter insisted on heading over to the much larger playscape. We were the only people at the park so I stayed with Olivia while Peter headed over, testing his new independence.

He bypassed the 3 available staircases for the ladder. I turned my head for a second and turned back around to see this:



Someone is enjoying his newly discovered independence!

Mommy is a sucker

Peter and I popped into the grocery store to pick up a few items the other day. It was a quick trip, in and out in less than 15 minutes. We're breezing down the juice aisle when Peter shouted, no really he shouted. STOP, MAMMA STOP! I froze, I started examining him, I thought he was injured. Then with complete awe in his voice he whispered, "Mamma, choo choo juice, please, choo choo juice". It took me a good couple of minutes searching the area around us to determine what he was talking about. But then, thanks to Peter's patient direction, I spotted it. On the second to the bottom shelf, shoved way in the back, a two-pack of juice in special Thomas bottles. Peter begged for the juice but it wasn't the whiny, over-the-top obnoxious whining. I didn't even hesitate, I handed Peter the juice and away we went. When we picked Olivia up from school Peter couldn't wait to show his sister his special "choo choo juice". Peter has carried the same juice bottle around for days! We have since replaced the juice several times over but his delight in the "choo choo juice" has not even begun to dwindle. I love that I was able to indulge the little guy, even if it does mean that I'm a complete sucker!

Healthy Lungs

I'm very pleased to share that at Olivia's follow-up appointment her lungs sounded (and looked) very healthy! We received good news at our appointment but it did not go smoothly. I hate that I have to advocate for Olivia at every turn. It would be so nice to see a doctor that had some knowledge/understanding/awareness of Sanfilippo syndrome or MPS or even lysosomal storage disorders in general. I respect the doctor when he says that he doesn't know much about my daughter's condition. Really and truly I do, I appreciate their honesty and I realize that it can be difficult to so openly admit to shortcomings. BUT....as a parent who is exhausted and scared it would be so nice to meet with a doctor who knew more than I did about Olivia's health. I think it would be such a special experience to have a doctor make recommendations rather than the other way around. The military health care system has some perks but we see a different doctor every single time that we have an appointment. It is endlessly frustrating! Okay, enough complaining for tonight.

RIP Bambi

Last week I was on the way home from therapy with Olivia and there was a very unfortunate casualty. The deer ran straight out of the woods, I couldn't swerve because there was a steep ditch. I slowed down, I honked, I yelled but the deer didn't listen. Olivia found the entire episode hilarious and applauded at the end. I'm just glad that Peter wasn't in the car because he would want to know what happened to "bambo".

Of course I freaked out! I tried to call Mike but he wasn't available so then I called my parents, then I called the insurance company. I LOVE our insurance company. They were so comforting! We will have to pay a small deductible but we'll have a rental car when our car is in the shop.

Olivia Update

So Olivia stayed home during the snowstorm and only went to school on Thursday and Friday of last week. On Thursday she had a bit of a cough but was otherwise feeling good so she went to school. Olivia's aide called and said that Olivia was coughing quite a bit so I went up to her school and gave her a quick breathing treatment. She seemed fine and things continued as normal. On Friday I was expecting to go to Olivia's school to give administer another breathing treatment but when I called they said she was doing fine.

On Saturday morning Olivia slept very late and woke up with a low grade fever (100.3). It was clear that she didn't feel well at all but she had been up pretty late the night before. We spent Saturday cuddling and laying low. On Sunday Olivia felt better but it was clear she wasn't quite herself so I called to get Olivia an appointment in the Acute Care Clinic here at Ft. Bragg. Olivia and I headed in to the doctor, the PA heard some "crackles" in her lungs so he sent us down to have a chest x-ray. The PA took one look at the x-ray and confirmed my suspicions, Olivia has a mild case of pneumonia. Given what I'd told the PA of Olivia's history he thought she needed to be admitted to the hospital but that we needed to go to the ER because (**here comes some army health care logic**) in the peds floor of the hospital they do not start IV's and if she's admitted to the hospital she must have an IV and they don't do IV's in the Acute care clinic so we would need to go to the very crowded ER and wait to be seen so that she can be given an IV and then be admitted. The PA realized how completely ridiculous this whole process sounded so he decided to call the ER doc and speed things up (at this point we'd already been at the hospital at Ft. Bragg for several hours). The PA telling the ER doctor that she needed to be admitted didn't go over well so then a nurse (I really think that the nurses are the only ones who really know how to get things done) walked us down to the ER and spoke with the triage nurse who helped fast-track us. Meanwhile I paged the doctor at Duke who immediately called us back. I brought the Duke PBMT doctor on call up to speed, he asked if we were waiting in the ER, he got the number for the ER and called to speak with the Doctor on call at the Ft. Bragg ER. I really don't know what it is that the Duke docs say but whenever they get involved I just love that way that things just start to magically happen! Within 15 minutes of me speaking with the Duke doctor they had completed a blood culture, collected a urine sample and started an IV. The doctors at Ft. Bragg spoke with the doctors at Duke and the final decision was that Olivia's lab work and vitals were good so she did not need to be admitted. Olivia is on a new oral antibiotic for the pneumonia.







I was asked by 2 doctors and a nurse if I had a medical background so I guess that's a compliment.

Now Olivia is feeling much better! She woke up giggling and has been running around the house all day. I'll bring her for a follow-up appointment Tuesday morning. I was expecting this winter to be rough (last winter Olivia was still immunesuppressed so we didn't leave the house) but I'm just ready for the end of the winter cold and flu season already!

Winter Break

We were fortunate enough to experience an unexpected Winter Break this week. Olivia had 3 snow days in a row and even Mike had 2 and a half days off of work. After all of the traveling and craziness of Christmas we really enjoyed being able to just hang out together! Even though Olivia loves going to school she was very excited when I told her that it was a snow day!



She kicked up her heels with glee!

The kids were very excited to greet Daddy when he got home from work, at 10 AM!!!!







We made giant tent cities, we played games, we watched movies, we read books and snuggled. We made cookies.







We did venture out into the snow.



I think we really might have to invest in an actual sled soon. I'm not sure how much longer this plastic tote thing will work.





But after 3 days the house is a disaster!







And one of us seems to be suffering from a case of cabin fever!

But in the end all good things must come to an end, or in this case a big wet puddle.

Goodbye Aiden

I learned yesterday that our transplant buddy, Aiden, passed away on Sunday evening. We met Aiden and the Lopez family in Washington state. They are also an Army family and we went through the insurance approval process with them. We moved from Washington to North Carolina within a week of eachother and Olivia and Aiden were admitted to Duke and received their transplants 2 weeks apart. We grew very close to their family throughout the transplant process and love and respect all of them. We will miss Aiden very much. There were many days when we were in the hospital that Penny was the only other non-medical adult that I was able to talk to. Sometimes the only way I could get Olivia out of bed was by telling her that we could go say hi to Aiden who was down the hall. I have so much more to say but I can't seem to find the words. An account has been set up to help with the family's travel expenses to California for Aiden's funeral. Here's the link: http://lopezfamily.chipin.com/mypages/view/id/73f2a4d1e8295acd

Peter's Room Makeover

I've been busy doing some MAJOR reorganizing around here, cleaning out closets, going through the garage, rearranging the furniture. Peter is not quite ready for a big boy room but it was time to get rid of some of the nursery items. We had an old coffee table that I made Mike pull out of a dumpster right after we'd moved to Washington. The thing is surprisingly heavy and has held up well through 3 moves. I re-purposed it into a train table and Peter LOVES it. The crib bedding is gone, replaced with sheets and a blanket made by my mom. I moved in a bookcase from upstairs and moved his toy bin out. Olivia's room is next, but the projects I have planned for her room are a little more involved!

Little Things

To you this might be a picture of a little girl sitting alone in the corner. But to me, it's a picture of Olivia, playing appropriately with one of her new Christmas presents. She's playing independently, she's focused, she's enjoying the toy. She' using her fine motor skills to turn the knob to play. It's a little thing but it makes me so happy!

Will Jump for Toys

Just before we went out of town for Christmas Mike was able to participate in Operation Toy Drop for the 2nd year in a row. Operation Toy Drop is a massive airborne jump and toy drive. Airborne units from all over the world come to Ft. Bragg to for some annual practice time with US paratroopers. During Operation Toy Drop US Soldiers donate toys in order to get a lottery ticket, if their number is called they are able to choose from a variety of foreign jumps (meaning they either use equipment from another country or they jump with a foreign jumpmaster giving the instructions in their native language).

Here's the link to watch a short clip about Operation Toy Drop.

http://video.foxnews.com/v/4455820/operation-toy-drop/

Obviously this event is all about donating toys to children in our community. For Mike it was all about the foreign wings. He spent an entire workday waiting to see if his lottery number would be called. It finally was and he was able to get onto the Foreign jump that he wanted, with the Royal Thai Army (Mike spent a couple of weeks in Thailand after college graduation). He got up very early for the jump, the kids and I had planned to go watch him but unfortunately the weather was not cooperating. After waiting for several hours Mike's jump was canceled so he came home seriously disappointed. He moped around the house all weekend, pouting. He kept telling me it was about the toys not the wings.

The following week Mike announced as we were getting ready to go to a holiday party that he was able to jump after all. Our conversation went something like this.....
M: I was able to jump today.
L: Oh really (as I'm half heartedly listening because I'm scrambling around to get the kids together) how was it?
M: Oh it was good. I jumped out of a helicopter with some SF friends, I got Thai Jump Wings. So should we bring the stroller.
L: What!?!?!?!

On the 12th Day of Christmas

We intruduced Olivia and Peter to Loyola. The kids LOVED running around campus and since it was Christmas Break campus was prety empty.



Mike walking with the kids in "smoker's alley" a popular hang out between classes.



The kids on the Loyola sign.


We took a ride on the streetcar. Mike took this picture of the kids and I waiting for it to pick us up.



On the way downtown the street car was almost empty so we all got to enjoy the ride.



We had lunch and then on the way back uptown the streetcar was really crowded. In college I remember steetcars having a limit to the number of people who could ride. If it was too crowded it wouldn't stop for any more people and we'd have to wait till the next one came along. I guess that has changed because this street car was packed! It was standing room only!

On the 11th Day of Christmas

On the 10th Day of Christmas my true love gave to me, another date night! We went back and forth about canceling our date night in New Orleans but Olivia was doing so well we did end up going through with it (and we were just a short 20 minute drive away). We went out to dinner with a group of my sorority sisters and some of their husbands. We went to the casino for a bit and then headed to Pat O'Brian's for Hurricanes with some of Mike's fraternity brothers. As we were walking back to the hotel we noticed the shadow outline of the touchdown Jesus in the French Quarter. I know that technically it's "Ascension of Jesus" statue but it will always be "Touchdown Jesus" to us, it's a Loyola thing.



In the morning we enjoyed a walk through the Quarter. This street performer was awesome, gotta love his metallic alligator.


We ended with beignets and Cafe au laits at Cafe de Monde. Yum!

On the 10th Day of Christmas

We headed to New Orleans to spend some time with more friends and family. Our trip to New Orleans didn't quite go as planned since Olivia got sick during our drive. She recovered quickly though so we were able to do some of the things we had planned. We headed over to Celebration in the Oaks in City Park. The lights were amazing.

Olivia and Peter sitting on the lap of a giant Alligator dressed up like Santa.



This picture absolutely cracks me up. It may be hard to tell what animal Peter is standing next to but it's an alligator with reindeer antlers of course! Peter couldn't be more excited to stand next to it.

Please VOTE

Team Sanfilippo, a group of parents who are committed to finding a cure for this horrible disease, is in the running for a $250,000 grant from Pepsi. For the entire month of January, people can vote for their favorite projects. The top finishers win the money. We want to use the money to fund a researcher at OSU, who is working on finding a treatment using Gene Therapy.


We need VOTES.


You can vote 3 ways - text, email and via facebook - each day.

I rarely solicit my friends and family but please consider taking a few minutes of your time each day this month to vote. Do it in honor of Olivia!

Below are the instructions for voting. I will leave these on the blog throughout the month so you can check back and vote each day. Please share this info on your blogs, facebook and twitter!

TO VOTE BY TEXT

Text the message "105582" to the number "73774" (stands for Pepsi)

TO VOTE ONLINE

Go to http://www.refresheverything.com/curesanfilippo and vote to Fund a Gene Therapy to cure Sanfilippo syndrome. You can use multiple email addresses to vote. It's my understanding that you get 10 votes per email address per day but you can only vote for a specific cause once. Once you are logged in there is a ticker at the bottom of the screen that shows how many votes you have left. After you vote please consider promoting the idea on Facebook or Twitter via the link on the top right.

TO VOTE ON FACEBOOK

Go to http://apps.facebook.com/pepsirefresh/idea/ if you are logged into facebook it will show a list of causes your friends are voting for and you will see Fund a gene therapy to cure the genetic disorder Sanfilippo syndrome by the Team Sanfilippo Foundation 501C3

Thank you for taking the time to support reseach to find a cure for Olivia. Happy Voting!

On the 9th Day of Christmas

We celebrated the 9th day of Christmas with another batch of presents to open, this time at LexStone Ranch.



Olivia loves the doll that Aunt Karen made for her!



I love that Mike got this picture of Olivia giving her new doll a hug!



Look at that concentration, love the serious unwrapping presents face.



Every time Peter opened a toy he ran around the room showing it to everybody!