SPINRAZA

So what in the heck is Spinraza? Well, if you're associated with the SMA community in any way, you already know the answer. If not, allow me to educate you. Spinraza is a drug that treats SMA. Correction, it's the ONLY drug ever developed to help fight SMA. Hard to believe this drug is a reality. When Colby was diagnosed almost 15 years ago, there was no cure and no treatment. I honestly never thought we would see hope in a medication to help Colby in his lifetime. Well, guess that'll teach me not to dream big huh? Of course we've all prayed for something to help in any way, and there's a good possibility Spinraza just might help him.

The majority of the research and drug trials for this drug have been done in newborns and infants. Spinraza shows amazing results in reversing the symptoms of SMA. But what does that mean for Colby? SMA has ravaged his body for years, leaving him with very weak muscles that despite our best efforts are starting to contracture, along with being vent dependent. Colby can usually spend 2-3 minutes off his vent before his oxygen starts to drop. Will Spinraza “fix” all this? Will Colby be able to walk and talk soon? No. He won't. However, this drug shows some promise with the older SMA Type I kiddos who have been in trials. If Spinraza could stop SMA from progressing and making Colby any weaker, I'd be happy. If the drug could help Colby gain back some strength and movement that SMA has taken from him, I'd be over-the-moon thrilled. Spinraza is not a fix-all for Colby, but at this point, it's the ONLY hope we have for Colby in treating his SMA. Let's do this!

Not so fast. It's not that easy, of course. Never is with Colby and/or SMA. First was the process in getting the drug approved through insurance. The drug was approved by the FDA on December 23, 2016. Being a brand new drug and treating such a small patient population, the drug is outrageously expensive. The first thing Colby's insurance required was a pre-treatment PT evaluation, which we did back in Cincy on April 19^th. Next insurance required genetic testing that wasn't done back in 2002 when Colby was diagnosed. Check. Got that done as soon as the insurance company asked for it. Then on June 1, Colby's private insurance changed, meaning we had to submit this information to his new coverage and see what they had to say. They approved! Colby has been given the okie dokie to start receiving the one and only drug on the market to treat SMA. Exciting news, I know. But I'm also very apprehensive for several reasons.

You don't just pick up Spinraza at the Kroger pharmacy, crush up a pill and flush it down Colby's g-tube. Oh no. The drug is administered via lumbar puncture. Honestly, this scares me to death. A possible side effect could be a migraine if there is any fluid leakage during the procedure. I've lived with migraines for years, and that is a pain and discomfort I wouldn't wish on anybody, especially my sweet boy! So that's a concern. There's also a worry that since Colby's spine is now fused, finding an opening large enough to administer the drug might be an issue. We won't have any idea until we get to Cincy Childrens and the IR (interventional radiologist) looks to see the access availability for Colby to get Spinraza. And at the moment, Colby's blood clotting factors are abnormal, so there's no way he's getting this drug until that issue is fixed. Colby had a ton of nutrition labs done last month, ordered by his neurologist. She also ordered a PT/PTT/INR as pre-procedure labs. And of course they were off because the blood was drawn from his port and not from a peripheral. The next step was to get an order for a peripheral lab draw. Hoping that this clears up the clotting issue. Just got the order for that yesterday. Tried to find a company to come out and do the blood draw here at home. Unsuccessful. So tomorrow morning we'll be dragging Colby up to LabCorp to get his blood draw done. I'm also a nervous wreck about this, since Colby is a horrible stick! I mean absolutely horrible! I'm dreading it big time. Hoping I don't thunder punch anybody during the lab draw tomorrow.

Wow, this is a lot of info in a short blog. That's where things stand with Colby getting this drug. It's pending basically. Once everything is a go, we'll hit the road to Cincy. Colby will receive the drug on day 1, day 15, day 30 and day 120, then every 120 days forever and ever or until we decide to stop the injections. Honestly, I'm pretty damn nervous about Colby getting Spinraza. The drug is brand new, so who even knows any long term side effects. Plus I hate the idea of Colby getting this done by lumbar puncture. There are some SMA families who jumped as soon as the drug was approved. They wanted Spinraza for their child immediately. That's not me. There are some SMA families who aren't currently considering the drug for their child. They want more information. That's not me either. I'm in the middle I guess. Scared to death of what this drug will or won't do for Colby, but at the same time I feel I owe it to him to try. He's come so far and done so much beyond what doctors ever thought he would, why not push the envelope and see if now his SMA can maybe be reversed. Wish us luck! This is a very, very, very big deal for Colby. The process needs to go as smoothly as possible so I don't lose what little sanity I have left. Who would have ever thought I'd be blogging about a treatment for SMA?! How awesomely awesome is that?!

POST B-DAY PICS

Now that I've found the cord to my camera, I can post some pics of Colby's bday party this past Saturday. And maybe start the scrap booking project I should've started in February.

My friend Nancy made these towels for the bowlers. My mom helped me clean house and BFF Amy helped me get out tables, chairs and make icing. Yes, it takes a village.

Nancy and I made Colby's awesome bowling cake. Funfetti! We also had chocolate cupcakes and ice cream.

Colby's St X buddies still stay in touch and go bowling with him. How sweet!

What a crew! Hope everyone had fun bowling.

HAPPY 15TH BIRTHDAY SWEET BOY!

And the best part of having a birthday...presents! Colby opening the Artsplash gift he got from his friend Danielle.

It's hard to buy for Colby. Cash and gift cards always appreciated.

HAPPY BIRTHDAY SWEET BOY! (one day belated I guess)

Colby turned 15 yesterday. Can you believe that? How amazing is that? I mean really, how incredibly awesome is that boy? First he and 5 of his friends went bowling at King Pin. That was quite a sight to see. There was a 5-year-old who had never bowled before, a second grader, 2 kiddos in wheelchairs and Colby's St X buddies who are now juniors in college. Actually I think everyone had a great time. I know Colby did. We only had time to bowl one game and he started crying after it was over. Silly boy. Then we all headed back to the house for cake and ice cream with more family and friends. Colby was showered with attention and got tons of nice cards, gifts and birthday cash. Yeah, it was a great day. For all those who helped me prep for the big day, bowled, came to the party or wished Colby a happy birthday, thank you so much. Colby turning 15 is a really, REALLY big deal, and I appreciate you caring and helping to make it special. Did I mention it was Colby's birthday? Did I mention it was a really big deal?

Today I was determined to rest and relax. Not exactly my forte but I tried and pretty much succeeded. Colby got some cool items for his fish tank so we got those in place. The weather wasn't disgustingly hot so the nurse and I took Colby for a walk around the block. I tried to encourage Colby to use his eye gaze. He's found a new set of words and is saying different things, but still not forming sentences or communicating his needs. The battle continues.

Tomorrow it's back to reality. Colby has FINALLY been approved for the Home and Community Based Waiver. I've been working on it since freaking November. It was a giant pain in the fanny. But anyways, the main reason I wanted this waiver was so Colby could get briefs and chux pads. We've had to beg, steal and borrow briefs for months. Colby got his first shipment this month. Fingers crossed we continue to get shipments monthly. One of the benefits from this waiver is also some respite hours. We use a different agency for briefs and respite than we do for Colby's full time nursing. It's confusing I know. The nursing agency hasn't found a temporary replacement for the nurse who broke her wrist. She'll be out another 4-6 weeks. Bleh. So the waiver agency is sending out a nurse tomorrow to work one day. This should be interesting. Usually I wouldn't do it, but I'm up for giving it a shot. This nurse better not be a stupid douche bag, that's all I've got to say. I'll also call our regular nursing agency, Maxim, to see if they have someone to cover for the nurse who is out. The never ending nursing drama.

But for now, right now, I'm still enjoying the weekend. Colby and I need to discuss how he's going to spend his birthday money. I'm thinking some new school clothes, maybe some supplies for the rabbit. I'm also thinking of getting Colby an Echo. We could program statements on his eye gaze so he could communicate with Alexa. Not sure if it would be a bust or not, but we have to keep trying on eye gaze. I refuse to give up on Colby using it effectively to communicate. Lord, grant me patience.

Okay, that's the update for now. Again, thanks to everyone for making Colby's birthday the special day he deserved to have. I sure do love that kid. And I know many of you all do, too. We are so blessed to have you in our lives.

YES, I REMEMBER HOW TO BLOG - TYVM

I could make a promise to blog more often. But let's face it, I'd be lying. I would like to share some good news, though, so here's an update on things Amy and Colby.

Colby's new eye gaze machine was delivered yesterday! Hip-hip-freakin-hooray! Colby's speech therapist submitted the paperwork back in January. Yes, 5 months ago, and it's been caught up in insurance and Medicaid hell ever since. Thank goodness we lit a fire under the eye gaze company's butt. Colby's health insurance is getting ready to change June 1, meaning we'd have to start all over with the new company if not by June 1. And the pre authorization for the device was about to expire May 24. So luckily we got the thing shipped and here before then. It's a beauty! Thinner than his old device but the screen in bigger. Colby's speech therapist, who happens to be the most wonderful therapist in the universe, made a special trip here today to move all the info off his old device onto the new one and move the mounting piece off the old loner device onto the new eye gaze. Oh, much happiness to get this marked off the to-do list! If we had to start this process all over June 1, pretty sure I would've had a small meltdown of some sort.

We're making progress on getting Colby the new (and only) drug to treat SMA. Again, insurance problems. Of course they denied Colby getting this drug initially. United Healthcare denies everything initially. Then they said he needed a PT evaluation before approving Spinraza. Took Colby to Cincy for that several weeks ago. Now insurance wants further genetic testing on Colby to see how many copies of SMN2 he has. We've drawn the blood for that and it has been shipping to Massachusetts for testing. None of this surprises me. I know lots of other SMA families who have had to do exactly the same thing to get approval. We're inching our way closer. That's how I have to look at it. Not sure how the new insurance change will affect getting the drug approved for Colby. Guess I need to look into that this week. Putting it on my to-do list now.

Tomorrow is the last day of Colby's freshman year! Did I just type that? Colby is a freshman, soon to be sophomore? Be still my heart. Last day is supposed to be Wednesday so he would have 3 days left. But he doesn't go to school on Tuesdays so that leaves 2 days. The nurse that goes to school with him needs the day off on Wednesday. There is no other nurse through the school corporation's agency who is trained to take Colby to school. Since I can't go to school with Colby because I'm a “liability,” which is such total bullshit, I guess he'll be staying home Wednesday. Leaving tomorrow as the last day. One more day. I mean, you know, not that we've been counting down or anything.

I've been keeping this news under my hat for quite a while, and now it's time to share. We're packing up and heading on a vaca this summer. We haven't been on a vacation in a long time, so we're overdue. Where we're going is the most exciting part. Taking Colby to a special needs camp in upstate New York. Yep, this crazy mama is packing up her sweet boy and traveling 800+ miles one way. How will Colby do during the trip traveling that long? I have no idea. I do know he's the absolute healthiest he's ever been, so if we're going to attempt a trip like this, I feel NOW is the optimal time. The best part is we'll be meeting another SMA family there! They're driving down from Vermont to go to the camp. They've been many, many times. I'm nervous and thrilled and excited and anxious all at the same time. So much to get done still! The last week before we leave will be spent organizing, packing, packing, repacking, reorganizing, rethinking, packing, repacking, reorganizing, thinking again, packing again, etc. You catch my drift.

It's so great to share good news. Things around here are going well. As I type that I hold my breath, cross my fingers, rub on the rabbit's foot and pray it can stay this way a while. We have good, dependable nurses. Okay, when's the last time you heard me say that? The house is still as beautiful and wonderful as ever. I do kind of wait for the other shoe to fall. We're an SMA family, no way things can be going this well. That just doesn't happen, right? Trying not to take the good days for granted. Thankful for every single moment Colby stays healthy, or “Colby healthy” anyways. Thanks for reading and checking in on us. We're blessed beyond belief for sure. If I could only get this goofy rabbit to mind, I would have a perfectly charmed life indeed.

STUBBORN BOY, CUTE BUNNY, TIRED MAMA

Good grief! I haven't blogged in over a month? Shame on me. You know the reason. Been busy. Actually I've also been tired and overwhelmed along with being busy. Not really sure why. Maybe it's because it's winter and we haven't seen the sunshine in, oh I don't know, weeks now! Maybe it's all in my head and I need to just get over it. Nah! We'll blame my current blah mental status on gloomy weather and being busy. Yeah, let's do that.

I decided to take Colby out of school for Jan and Feb. Too many nasty germs and viruses going around. I usually send him to school during the winter, but something this year said don't do it. It took the school system quite a while to find a home/hospital teacher for Colby. He (Mr. Randy) comes twice a week, each time for one hour to work with Colby. Poor Mr. Randy! He's finding out just how incredibly stubborn Colby Michael can be. Colby doesn't like doing schoolwork at school, so he sure as hell doesn't like doing it in the comfort of his own home. Oh sweet boy, where do you get such stubbornness?! We had Colby's eye gaze going with Mr. Randy was here yesterday. The only choices Colby had were Yes, No, I Don't Know, Maybe, Seriously, All Done, All Gone. Mr. Randy was trying to get him to answer yes/no questions. Colby started answering “seriously” for every question he was asked. Really, Colby? It was kind of funny, but let's face it, Colby was being a total smartass. So then I hid that button, so it was no longer available for Colby to say. Then his answer to questions was “I don't know.” To every---single---question--- Mr. Randy asked him. I about lost my flipping mind. I finally hid all the buttons except Yes and No. Wow, can't wait for home/hospital instruction again tomorrow. Want to take bets if Mr. Randy calls out? Haha.

And speaking of calling out, we're having nursing issues again. Oh boy, dealing with nurses, my absolute favorite. We had a full time second shift nurse. He and I got into a disagreement last Tuesday. He looked and me and said, “I'm going home!” Got his shit and walked out half way through his shift, and he hasn't been back. So then the nursing agency found a replacement. This nurse was going to pick up some shifts while her regular patient was in the hospital. She worked one full shift, then called the nursing agency and said she didn't want to work with Colby again. She complained the drive was too far and that Colby was too big and heavy. Due to her back problems, she would be unable to properly care for Colby. That's two nurses in one week. But wait! There's more! We have a nurse who only works one shift a week for us, Friday evenings. After next week, guess what? Yep, she found a full time case closer to her house, so she's taking that patient and dumping us. That's three nurses gone in one week. She is going to pick up extra shifts next week, then start her new job the week after that. So we're good until next Thursday, then we will have no evening nursing. ZERO. Zip. Hopefully the nursing agency can find a replacement soon. If not, it'll be okay. We still have a full time day nurse and a part time nurse who helps on the weekend. If we go a week or two without night nursing, maybe it's the universe's way of saying I need to spend more time with Colby. And I'm fine with that! 

Tuesday it was pouring rain so we didn't take Colby swimming. Instead, I gave him a haircut myself. I probably shouldn't add barbering to my resume anytime soon. But I think I did a decent job? Right? 

And what about me? I'm keeping busy, for sure. Upon careful examination of my checkbook, I've come to the realization that I'm broke. I was geared up to start looking for another part time job when the nursing crap started. So as soon as we have more nursing, and dependable nursing, I'll be on the hunt for a j-o-b. Not sure where I'll end up or what I'll be doing, but hey, I'll figure out something. Not sure how in the world I'm going to still care for Colby, take care of the house and work more, but I'll figure something out. After all, I am Super Mama.

We have a new member in our family. This is Cupcake. I wanted to get Colby a cat or kitten for Christmas, but we had a nurse who said he was highly allergic and that he would have to quit if we got a cat. Well, this is the same nurse who up and quit so obviously we should've just gotten the cat and let his sorry ass leave! But I don't regret getting a bunny. She's sweet, curious, super soft and we love her to pieces. Things I've learned about rabbits: they like to eat. They poop, and poop, and then poop some more. Our rabbit is very nosy, but she's been pretty good about chewing. She hasn't gnawed on any of the woodwork like people said she might. She has chewed through one of Colby's pulse/ox probes and also a feeding extension. But once I caught her and bopped her on the nose for it, she has pretty much stopped. Now I'm debating on whether we should get a cat or not. Yes, apparently I'm a glutton for punishment. If we're going to have a nice, big house, might as well fill it up, even if it's with furry critters. Or maybe a parakeet...?

 

And lookie here! We finally got our driveway repaved. Hooray and zip-id-eee-doo-dah. I think they did a great job. Don't know if you can tell or not, but there are huge ruts on each side. Well, if anyone is going to step off the driveway, into these ruts and gets hurt, it'll be be. No doubt. I caught the foreman walking by our house (who happens to be a total hottie BTW, too bad I'm probably old enough to be his mama.) I asked him if they were planning on filling the ruts soon, and he says yes. I probably should've gotten his idea of “soon” but I didn't. Hoping very soon. 

Okay, time to get kid tucked in to bed. Will blog again when I have the time and energy.

HAPPY 2017 IS GETTING HAPPIER

Well, the start to 2017 was totally sucky. But we are doing much better now. Thanks to everyone who called, texted or asked on Facebook how Colby was doing. There's no doubt in my mind we are surrounded by so many people who love and care about us! Took Colby to the pediatrician here in town Tuesday. I was leery because his regular doc was out of the office, so we had to see just some other doc in the practice. I really liked him! Turns out Colby had an ear infection. Not really sure how. We didn't go swimming last week because I was sick. Didn't go swimming this week because Colby was sick. But anyways, he's on Omnicef for 10 days. I think we caught it just in time before it started moving down into his trach and lungs. So I've been getting up through the night to do a respiratory treatment for Colby. Nebulizer, IPV, CoughAssist, the whole shpeel. For 2 nights he was up with a high heart rate and low oxygen. For the last 3 nights we've been doing extra treatments. How much sleep are we not getting this week?! But if it helps Colby get better, that's fine. I'll do the same tonight, then reevaluate tomorrow based on how his numbers hold up, the color and amount of his secretions, etc.

I've made the decision to put Colby on home hospital for school during the winter. I'm one of the few SMA parents I know of who sends their kid to school during the cold, germ-infested winter months. Colby has never been sick and in the hospital once during the winter. So weird. He's had major illnesses in September, July and March, but not during the winter months. And there's this little voice telling me, hey, don't push his luck. We could use the rest, that's for sure. There are lots of things we can do with him at home that are educational, if we choose. Plus he'll have a teacher come out for a couple hours each week to bring him his school papers and work on them with him. Pretty sure I'll never regret the decision to spend more time with my kiddo. I've already told him swimming will be decided on a week-to-week basis, based on weather, how he's feeling, etc. He probably didn't like that. We've also always taken him to the pool in the winter. Yes, I know, I'm one cra-cra mama. Never claimed not to be!

We are still without a bunny around here, but it's not my fault, I'm trying! I e-mailed the lady at the rabbit house. She e-mailed back the next day saying I needed to fill out the online application, which I did immediately. Now I haven't heard from her in almost 2 weeks. I called her once, left a voice mail, and yesterday sent her another e-mail. Uh, hello, we're in need of a bunny to put in this ginormous cage set up in the living room! I think it's supposed to be warmer next week. I guess if she doesn't call back, we'll run Colby up to the local pet store to pick out a rabbit.

I have some happy news to share. Last year my endocrinologist found a cyst in the bed where my thyroid used to be. Okay, that's obviously not the good news lol. She sent me to a neuroradiologist. He thought the cyst was nothing to worry about, but wanted to do follow-up a year later. Went to the neuroradiologist yesterday and now he's almost totally convinced the cyst is only a cyst and not a recurrence of cancer. He's calling it a “post surgical cyst thingy,” very scientific term isn't it. The mass/cyst doesn't look suspicious and has shrunk in size instead of grown. So zip-id-eee-do-dah, I'm still cancer free. I could have reached up and kissed him right on the mouth, but managed to hold my composure instead. He wants to look at it again in a year just to be on the safe side.

But the really, really, big, huge exciting news is that with any luck, and work and coordination with Cincinnati Childrens, the drug company, Colby's insurance company, etc, and with the pharmacy gods smiling down on us, Colby will be able to receive the recently approved drug to treat SMA. This is such a huge deal people! After 14 years, there is FINALLY some hope that the progression of his SMA will stop worsening, and maybe, just maybe, he will gain back some strength and mobility that he has lost over the years. The wheels are in motion. Best case scenario, 2-3 months. Regardless, Colby will be receiving a drug to fight his SMA in the near future. I'm flabbergasted this has come to fruition. I honestly never thought a cure or treatment would be available during Colby's lifetime. Never been so glad to be wrong about something in my whole life! I'll keep everyone updated, of course. Right now I've done what I can do. Signed a consent form and signed a start form. Next Colby's neurologist fills out the rest of the start form, submits it to the drug company. Then Cincinnati has logistics to figure out like which department is administering the drug, do they need to hire more people, stuff like that. Amazing. Simply freaking amazing.

Time to tuck in Colby and go to bed so we can get up at 2AM for a respiratory treatment. Oh goody. G'nite all.

HAPPY NEW YEAR PEEPS

My oh my! I haven't blogged since November 16? I've had a couple people ask me if anything was wrong because I haven't updated lately. I guess it's a combo of being busy, preoccupied with any number of other things or I just flat out haven't bothered to do it.

Hard to believe another year has rolled around huh? Just doesn't seem possible. This was our 2^nd Thanksgiving and Christmas in our new house. Unbelievable! We had 12 here for Turkey Day. I was on top my game. Had all the dishes listed so we didn't forget to set something out (who does that?!) Even had times written down so that everything was done at once. Didn't want the hot stuff getting cold and the cold stuff getting warm! Just one tiny little problem. The turkey was under cooked! (I wasn't responsible for the turkey, just sayin') I go in to get Colby up in his wheelchair only to return to a 16-pound turkey rotating/cooking in the microwave. It was kind of funny I guess. Better to have a microwaved turkey than food poisoning, that's my theory.

Christmas was fantastic. Actually, I was sad to see it come and go. Seems like we work, and plan, and decorate, and bake, and shop, and wrap and then boom, the family rolls in and in 4-5 hours it's all over. Took Colby to the Hosparus Christmas party again this year. It's such a great time and the people who organize the party do a fabulous job. It seems to get better every year! Colby got some awesome presents this year including a bowling shirt with his name on it, glow light and items for his fish tank, a couple of board games, movies, clothes, gift cards. Mama Santa is getting Colby a bunny rabbit. Oh my Lord what have I done? On Christmas he unwrapped all the stuff for the cage – hay, feed, toys, etc. Next step was to assemble the cage, which we've already done. Next step is to pick out a bunny! Turns out they have shelter houses for rabbits just like they do for dogs and cats. Did you know this? I sure didn't. So I've filled out the application, and I'll call them this week to see if we can set up an appt to look for our future house pet.

Colby had 3 days of appointments at Cincinnati Childrens Hospital the week before Christmas. By the end of Day 3 we were all pretty much exhausted. But overall the trips went well. Up and back on Tuesday. Then up on Wednesday, stayed overnight and back to the hospital Thursday morning for appointments all freakin' day. Overall the reports were good. No major surprises. I need to call and schedule an appointment for Colby to have a broncoscopy sometime in the near future. Need to talk to the nutritionist to cut about 50 calories daily out of Colby's diet. My sweet little boy is no longer little! He weighs 101 lbs and is about 4' 10” now. Holy crap.

I would say I'll make a New Year's resolution to be more consistent with blogging, but let's get real, we all know better than that. I didn't really make a “resolution” to do or not do something this year except for being wasteful. I want to be conscience of not wasting anything. Don't waste water or electricity, don't waste time and energy on people who don't deserve it, don't waste my time with the never ending what-if's that penetrate my brain, etc. Anyone know how to just turn your brain off sometimes? I need to know that technique. Geez.

And of course my main focus will be to keep Colby as healthy and happy as possible. He's such a good boy! He deserves so much better than the shit cards he got dealt. I'm debating on whether or not to send him to school during the winter months or put him on home hospital schooling. Of course the weather has been so warm it hasn't really been an issue yet. I don't know. We'll see.

Okay, that's all I've got. I'm looking forward to 2017. I think some really wonderful things could happen this year. May take some hard work and stepping out of my comfort zone, but hey, what else is new?!