Thursday, August 24, 2017

Spinraza...round 2!

It's been 2 weeks since Nate's first dose of the new drug Spinraza.  So now we're back and ready for loading dose #2!
Dr. Dad having fun with his patient while waiting for the real doc...Nate's neurologist Dr. Harmelink.
...labs are first, and he gets several vials of blood drawn. He is always so brave.
after leaving neurology and en route to radiology, Maddie and I may have stopped at the gift shop for reinforcements. 
while we waited for Nate's next appointment, the marketing peeps from the hospital asked me if they could use the photo I posted of Nate from his first visit two weeks ago. 
I'm always super happy to share Nate's story!
(You can check out the post on the Children's Hospital of Wisconsin's FB page!)
we were happy to see familiar faces when it came time for Nate's treatment.  Dr. Fons, the anesthesiologist, felt really confident that Nate could have the proceedure without being sedated this time....because Nate is such a super-awesome patient! (mom's paraphrasing) 
He promised to be at the ready if Nate needed anything.

so then off he went with Heather to get his second dose! 
recovery cuddles with those amazing heated blankets!! He did perfectly perfect without sedation. 
...then FINALLY..
Chick 'a lay.  
He'd been talking about it for hours. 
We should probably teach him to say the name correctly, but it sounds so cute when he says it so... Chick 'a lay it is, little man. 
We love you so much!

Friday, August 11, 2017

What is Spinraza, anyway? (and why is Nate even in a wheelchair??)

We took Nate to Children's Hospital in Milwaukee on August 9th for his first treatment of Spinraza. This is the first and only FDA-approved treatment for SMA, which is a genetic disease in which a lack of survival motor neuron protein affects the part of the nervous system that controls motor function.

That is why he uses a wheelchair. SMA stands for Spinal Muscular Atrophy, and Nate has SMA 3. 

So this wasn't our first trip to Children' took a long time and lots of testing to get a diagnosis. This all happened a few years ago, and up until December of last year, there was no treatment for SMA. Basically,  the lack of the SMN1 gene leads to deterioration of nerve endings and his muscles will eventually atrophy. 
That's why his legs are not strong enough to walk, or even bear weight. 

We have been waiting a long time for Spinraza to be approved! 
Then after we learned it was finally approved, we had to have him tested again for his insurance to review. At the time of his testing, his insurance didn't even have a policy in place yet for Spinraza. 

More waiting!

But we finally got the call the Nate was approved! This happened in early July, which led us here, to this first appointment! 
It was an all-day affair; blood tests, long meetings with his neurologist,  more waiting... we played hide and seek in the garden....
...took naps in the sun....
and then finally we headed to radiology, where he was so brave and good...I was really proud of him.

Natie! I'm like, let me take a picture to remember this historical day!
But truly, we feel honored to be one of the first for sure in Wisconsin to have access to Spinraza, and one of the few in the country already beginning this treatment. 

We go back in 2 weeks for another treatment...2 weeks after that, 4 weeks after that, then every 4 months thereafter.
If it works, it will stop the progressive loss of muscle tissue, and what he is able to do he will be able to maintain. In other words , he will not continue getting weaker.

The drug is administered via spinal tap, so he is sedated first. Awww....little man!
Past that, we don't know much more. The treatment is so new, and the drug trials that were performed before it was approved were all done on infants with SMA 1.

None of the trials kids had Ds, either. Nate is making history and his charts and progress will go down in medical records for future Spinraza studies!
We are SO GRATEFUL for all of your good wishes and prayers! It has been awhile since I posted anything on this blog, but I'll be sure to keep it up-to-date with future treatment info and progress reports!

Thursday, August 06, 2015

Just add water

The water was a little rough,  and I didn't think Nate would want to swim in the bay. I thought for sure he'd want to build sand castles instead.  So I didn't bring his  arm bands to wear....but he went in the water anyway! It's always so exciting watching him move so effortlessly in the water.  On this day,  it was extra-awesome to see him navigate waves without floaties  😊

Friday, October 31, 2014

What I learned this week

I started reading this cool blog's called From Inmates to Playdates. I like her writing style a lot...and recently she published a post called "What I Learned This Week."

Thought I'd join in the fun.
I had to link up to some linky tool thingy...hope I got it right.

I flipped through some of my pics from this past week and after I selected the ones I wanted, I noticed they were mostly about food.
I'm a foodie. I can't help it.
I work out so I can eat cake.
it's true.
don't judge.
so what were a few things I learned this week? hmmm...

I learned that Fall isn't Fall without Nana's pumpkin cookies.
They are so freaking good, and we will all hover around the plate and stuff our faces.

I learned that given the choice, my kids will eat everything except the tomatoes.
If I was prudent I would have saved them and used them in a different way, but they would have been picked out and shoved to the side of the plate anyway so why bother.

I learned that donuts will be eaten at anytime of the day, without hesitation, even after the donuts have been sitting in the car all day.  
I heard on the radio yesterday that it was National Donut Day, so I did the only responsible thing.  Hannah didn't believe me so she asked Siri and Siri said it was in June.
Who's right? Radio DJ or Siri?
Only happens once a year...right? or...twice a year, I guess.

I learned that #downsyndromeawarenessmonth HAS SO MANY MORE PARTICIPANTS THIS YEAR on ig and it was sooo cool reading post after post and seeing some of the cutest pictures EVER.
Wow, there are some seriously cute kids out there.

I learned to lean on God more this week, which is awesome.

I learned that being stretched is a good thing, and that being humble is the only way to go.

 I learned ALL OF A SUDDEN  my 17 year old daughter is almost a woman and that her habits and patterns are changing at rapid pace and I'm not ready for it.

I learned that even though Nate doesn't like salad, he likes to dish it up.  Who knew?
This was really challenging for him btw...and he struggled to get the slippery pieces of lettuce soaked in dressing to stay in between the spoon and fork. 
mmmmm....that was homemade dressing, too. It was sooo goood.....wait what 
 He did great though! We all stopped in mid-bite and watched him as he pulled the salad bowl toward his plate and started what turned out to be a little OT. lol

I learned that having a teenager in the house that is over 18 is not like having a teenager in the house.

I learned this girl has more determination right now for things that sadly do not matter than she does for things that do.
I learned that my husband sees through that and can amazingly reach her on that level and speak directly to her heart.

I learned that although our senior pastor has recently retired, he still gives great sermons on his blog!
I appreciate that.

I learned after looking at so many kids this month with Ds that I only think my kids or kids with Ds are adorable.  If your kid is cute and doesn't have Ds, then they're just typical.  Sorry. Just being honest.

I learned (today) that wearing James's shirts are so much more comfortable than wearing my own. 

I learned that the Natural Collagen Stimulator booth at Planet Fitness is I-Dont-Know-What-For

I learned that I am in no way shape or form ready to be a worship leader, but that I am so ready.

Wednesday, October 15, 2014

Fall is my favorite color

Weekends in Door County are special.  There are no two ways about it.
I have memories of this wonderful place from way back to when I was young.
In every season, this charming collection of villages that makes up the peninsula of Wisconsin holds an abundance of treasures.  Spring brings an awesome display of tulips, daffodils and any and all other bulb flowers that show their pretty faces each thaw.  So many in fact...there is a festival just to usher in the blossoms! Summer is cherry harvest time...and late July is when you can go to any number of local orchards and pick your own cherries, not to mention nearly every eatery has a cherry-infused something or other...

Summer time is gorgeous.  The lake is beautiful no matter if you're on the bayside or the lakeside.  Each little village has its own unique qualities and boasts individualities that are endearing to every visitor.  If you talked to anyone who spends time in Door County, inevitably they will wistfully tell you that although they love it all, there is that one place that is their favorite....

That place for me is Ephraim.
Especially Ephraim in the Fall.
Pumpkin patches and apple orchards.  ((*sigh*))
I took my mom and Nate to our camper this past weekend.  Our camper is in Sister Bay about a mile from the Ephraim shoreline.  We went to Pumpkin Patch Festival, ate fish fry at the Sister Bay Bowl (omg the best fish fry in the state) visited our favorite farmers market and had incredible bakery.
We did a lot of nothing, too. 
Which was the best.

Nate loves going to the camper more than just about anything.
He asks about it a lot.
"when are we going camper??"
There is a lot to be said about breathing in the peace and tranquility that is always waiting there. 

We used to have a pop-up camper, and for several years while Nate was younger, we camped a lot.  I mean...almost every weekend!  We camped in Door County, but we also camped all over the state, too.  Nate slept in a pack-and-play that fit nicely in the camper, and it was easy.  When he started getting mobile, it was a little challenging because we wanted to be really careful around the campfire, and then before we knew it he was too big for the pack-and-play.

Last summer, after lots of visits to Children's Hospital of Milwaulkee, and lots of tests, we were told that Nate has SMA 3 (Spinal Muscular Atrophy).
It has nothing to do with his Ds diagnosis.
In a nutshell, it means that as he grows up, he will eventually be unable to walk.
We ended up selling the pop-up because we could no longer camp with Nate as we tried to assist him with mobility, bathroom visits and bathing.  

We talked about getting a larger camper with a bathroom, shower, living area etc.but that's about all we about it.
But I should have known that James would continue to search for one....and from time to time he would mention something about finding this one or that, but I didn't think much of it.

Then one day he said he had found the one; a 35' park model RV ...and the most amazing part was it came with a sliding glass patio door, a deck already added on and a handicapped accessible ramp.
It was our dream come true.  We were not even necessarily looking for one in Door County, but there it was, already placed on a permanent site, ready and waiting for us!

We came, we saw, we bought.
It was the best investment e.v.e.r
Nate is so happy.  He gets to camp again!
Next summer, when we have it for our first full season, we'll be able to take him boating, fishing, swimming and all of the other activities he loves so much.

Spending this time with my mom was really cool and special.
James was in Nashville with Andrew and the girls were it was just us three.
We ate our way through the weekend and enjoyed every moment;  peaceful hours sitting on Adirondack chairs watching the sail boats float by, hanging out in our pjs all night laughing and making new memories; taking Nate to the beach, festival, out to eat...and lots of fun pictures which is something I really love to do.

Next weekend will be our last weekend before the camper hibernates for the winter.
James and I will go up for one last Fall Fest hurrah, and then we'll be #sisterbaydreamin until April!

Wednesday, August 06, 2014

Miracle League

We were out of town when Nate had team photos I had to take pics of him in uniform and email them to the staff.  Here are a few out-takes for your viewing pleasure :)

Tuesday, March 11, 2014

What about Nate

Last week I had an interesting email correspondence with Hannah's Bio teacher. The topic in class was chromosome and karyotype analysis, and the subject of Down syndrome was discussed. A student asked if Down syndrome was preventable, and the teacher replied, "no, it's just bad luck."

weeeeeeeell now.....let's suffice it to say that didn't go over well.  I had a bit of a come-to-Jesus with her, in a nice way (ish) ...all is well.  I told her in the end that I'd be happy to bring Nate to her class so her students could meet him and ask me all the questions they wanted to.  It would be my pleasure actually...nothing would make me happier than to set the record straight with that teacher and to watch Nate charm his way into every heart at Bayport.

But that got me thinking. Day dreaming actually about what I would say to a class full of teenagers who may or may not have any experience with a kid who has Ds.  A hundred different thoughts went racing through my mind, all piling up on top of each other vying for my attention. I tried to organize them in  a steady stream of what I know to be true, starting with who he is....

This is my son, Nate. He's six years old. He loves playing games on his ipad and eating pizza. In fact pizza is probably his favorite food, except for burgers. I've tried reading him a few different books at night before bed, and he didn't like any of them, until I found Little House on the Prairie.  He learned sign language at around 8 months old, and even though he doesn't need it anymore, sometimes he still uses it, for in "pleeeease, momma...a cookie?" There have been more than one occasion that he has called me "cray" with a crooked grin. Potty training can be tedious, but he is very sensitive to it. I have to be careful not to show frustration because he'll say he's sorry, even though he hasn't done anything wrong.  The dogs finally listen to him which makes him giggle every time.  He loves to cuddle, especially in our bed. And watch movies. He loves movies. The first time I took him to a 3D movie I thought he'd come out of his skin! He's grumpy sometimes when I wake him up to go to school, but he gets to swim twice a week at Syble Hopp, which he loves.  He talks about his church a lot, and asks every week if it's "Able Friday." He is the darling of Camp Daniel. He is affectionate, tender, hilarious, brave, sensitive, charismatic, loyal and smart. He's totally adorable, too.  :)  He tells me he loves me at least a half dozen times a day, and usually it is when I am helping him, which is all the more endearing.  He plays baseball in the Miracle League. He loves Mickey Mouse and Curious George. And his big brother. Whenever his dad plays the piano, he gets out his drum and plays along. He reminds us to pray before meals, and requires us to hold hands around the table, even though we have not historically ever held hands during prayer. (he also will look around the table while he's praying to make sure everyone's eyes are closed lol). He loves yogurt, especially sitting on the counter eating it while I cook. He notices if I get a haircut, likes hot tubs, loves his sisters and is a great traveler. Whenever the front door opens, he'll often say, "Becky's home!" He's tired of getting his photo taken, complains about taking medicine and will pretend he hasn't heard me say it's time to turn off Spy vs. Spy.

These are just a few things off the top of my head that describe this awesome kid. The list is ever-changing.  Bad luck? I don't think so.  Although Hannah's teacher apologized to her, I really wanted her to apologize to the entire class for making such a horrible comment that may stick in the minds of kids who may not know any better. But Maddie told me to let it go, and Hannah was mortified at the thought. I still may, but I might not. I haven't decided.  All I know for sure is I get to live every day of my life with this boy who has changed me forever. The last thing I said to Hannah's teacher was "the best luck I've ever had was the day Nate was born."
This kid....yeah....he's the end of the rainbow.

Monday, March 03, 2014

Happy Birthday

This is the first time Andrew has been away from home for his birthday...and I miss him!
Happy 19th birthday!

Friday, November 01, 2013

Just a day ...

October 30, 2013.
This morning I had to go to LaForce hardware to pick up master keys for one of my properties. That business is right next door to the Boys and Girls Club on Oneida St. That's where Andrew used to have basketball practice last year, and it hit me really hard because I miss him so much. I Remember dropping him off or picking him up throughout the basketball season and how much fun it was just having in the car with me. It's funny how something and come out the blue right at you unexpectedly. It makes me love this town because this is where my memories are. So I thought I grabbed my phone and make some notes so I could blog again more frequently like I've been telling myself every day that I should do. Days go by and I forget the little things that make my life so full of joy. I don't want to forget those times, like today. Even though it was a hard memory, it's still brings joy to me because it reminds me of someone that I love very much. So like I said, I grab my phone and open up my notes app so I can write it down, in the first note that opens up is in his graduation party. How funny is that.

I have been thinking about Andrew this morning anyway, because he called me yesterday to tell me that his charger for his Mac didn't work anymore and he needed a new one. I was making a mental note to text James to see if he knew what kind it was so we could order new one for him.
I am reminded how the ins and outs of life weave a beautiful tapestry.

This morning when I was getting Nate ready for school, he was sitting on the couch and I was putting on his socks, orthotics and shoes. (He's wearing those cool Jordan high-tops!) 

Anyway, before I put his socks on I grab his little feet and rub them and rub his ankles and kisses all of his toes and I think, "I know I did this with my other kids!" 
It's just so hard to remember them being that little. But I know I did, because I can remember saying some of the same things to them that I say to Nate. So I just want to say it officially right here and right now....Natie you have the cutest little baby feet and I never miss an opportunity to kiss them and kiss you. Every chance I get, little boy, I kiss your face your neck your head and your feet. I love you. I love you. I love you. I love you like I love Andrew, like I love Hannah, like I love Maddie....I just didn't write it down back then, and I should have.