SPINRAZA #2 - DONE!!

This week has been crazy busy for us. Some for the good; some for the bad. Let's start with the bad, then end on a good note.

The transmission went out on the van. Not cool. I get frustrated with my dad sometimes because it seems like he's always finding something wrong with the van. I'm sure there are many of you who have dads like that, too. Well, he mentioned a couple of times there was a “whining” with the van. I ignored him and also started ignoring the whine. You know, just turn the radio up and the problem will go away. Well it didn't. He took the van to get it looked at and sure enough, the transmission was going bad. Not something you can mess around with for sure. Dad took the van to get fixed and brought me the old, big, brown van to drive in the meantime. The Terdmobile. Good old Terdy, still getting us from Point A to Point B when needed. I couldn't take Colby anywhere in it because the lift is broke, but I was able to run errands, go to work, etc. There were some issues in getting the van back, but we finally did on Friday morning. Just in time because we had a trip to Cincinnati Childrens this week for Colby's Spinraza injection. More about that later in this blog.

The water chamber on Colby's vent tipped over last Wednesday, causing water to travel through the vent tubing, into his trach and yep, into his lungs. Colby's nurse somehow got a pillow caught in the tubing and caused the water chamber to spill. I know it was an accident. I know she didn't mean to. I know she felt horrible about it. However, that doesn't change the fact that her carelessness put my kid in great danger! Thank God I was home when it happened. We immediately began doing CoughAssist treatments and trach suctioning with Colby. I was online with other SMA moms to get advice on what to do, how aggressive to be with treating the issue, etc. We monitored Colby very closely, gave him extra CoughAssists throughout the day, and re-positioned Colby frequently for postural drainage. I have to idea how much water got in his lungs. Scared me to death. My mind started racing. He'll get sick. He'll get pneumonia. We'll have to cancel the Spinraza injection. You might think I'm overreacting, but really I'm not. All that very well could've happened. But it didn't, and I'm thankful we were able to “fix” Colby without having to go get x-rays, get on antibiotics, him getting sick, etc. Living in fear isn't very fun sometimes.

Let's move on to better, nicer topics. This past Monday was my birthday. My mommy offered to take me to lunch, anywhere I wanted to go. I said hey, there's a Frisch's Big Boy down the street. Lived around here 20 years and have never been. So that's where we went! Patty melt and hot fudge cake made for an excellent birthday lunch. I got lots of cards, calls, texts, visits and gifts. It was a great birthday. Thanks to everyone for taking the time to make me feel loved on the celebration of the day of my birth!

To say van transmissions ain't cheap is an understatement. We had some very considerate family and friends help us pay for the van. I cannot thank you enough. When I found out it was the transmission, my head started spinning. I had no idea how I was going to work enough extra hours to pay for it. I feel with these Spinraza injections, Colby needs me now more than ever. I'm working on getting him extra PT sessions and also OT. We need to really work to make the most of this medication he's receiving. Thank you to everyone who gave me “birthday money” which was really funds to help pay for the van. It has taken a huge worry off my mind, and it's appreciated so much.

And last but certainly not least, Colby's 2^nd dose of Spinraza is a done deal! We went up on Sunday night and stayed again at the Ronald McDonald House. Had to be at the hospital at 7:30am. Colby's lumbar puncture went as smoothly this time as it did last time. He did, however, wake up at 2:30am and didn't go back to sleep. So obviously he's having some anxiety about all this. Understandable! I think for next injection, October 12^th, I'll see if they can prescribe him a little something-something to help with that. Everything went very smoothly, just like last time, and we were home at 2:45 yesterday. I checked on him hourly through the night. He had no issues with sleeping. He's doing great. Keeping him flat for 48 hours. I've been giving him Tylenol since he had the procedure. We're going to stop the Tylenol and see how he does. He certainly doesn't seem to be in any pain or discomfort. Such a tough kid! Looking forward to getting these loading doses done. Halfway there!

Okay, I really, really need to stop typing and get something done today. Is it bad that I want to curl up on the couch and watch movies all day? But the mound of mail on the table and loads on laundry waiting on my tells me that's probably not an option. But then again, would it really matter if I took a couple hours to chill out?! Maybe throw in a load of clothes, then some couch time? We'll see how my energy level lasts.

POST SPINRAZA UPDATE

I'm going to make this update short and sweet.

Colby's first Spinraza injection went well. Very well. His procedure was scheduled for 8:57AM and they wheeled him into the OR at 9:03. The radiologist came out in no time and said no problems and Colby's injection was done. He was able to find an opening in Colby's spine easily, injected the Sprinraza and bing, bang, boom, done. Colby stayed in the PACU (recovery) for 2 hours, and we headed home. Got back to Louisville around 3:15. I can't express how damn glad I am to have this first Spinraza over with and done!

I made sure Colby took it easy for a couple of days. He stayed flat for 48 hours. I'm sure he was bored, but that's just too darn bad. Mama's orders. I bought him “Kong: Skull Island” so he watched that a couple of times. Overall he has done very well. His heart rate was really low Tuesday. I assume that was because of the anesthesia. We sat him up in his wheelchair Wednesday, two times, one hour each. Thursday we increased it to 1 hour 15 minutes twice a day. Today he sat up 1.5 hours twice. It's been 4.5 days since the procedure, so I'm assuming he's out of the woods for any complications.

THANK YOU to everyone who stayed in touched. The calls, texts are Facebook communications are much appreciated. We are so loved. I realize that more and more as time goes by. Fingers crossed for a successful injection #2.

SPINRAZA Q & A

What's the schedule? My goal is to pull out of the drive at 12:30 tomorrow. Colby has been invited to a birthday party, so we'll go there first. Stay about an hour. Party on the way to the hospital, that's how we roll. Then do his IPV and CoughAssist treatments and feed him while there. Load back up in the van and head to Cincy. Staying at the Ronald McDonald House tomorrow night, which is excellent. It's right across the street from the hospital and of course much cheaper than staying at a hotel. So again, I request that when you go through a McDonald's drive-thru, please consider dropping your change into the Ronald McDonald House donation box. It's a wonderful organization and I'm really glad we got a short-term stay room there for not only Colby's first injection, but also his 2^nd injection on Sept. 25^th. His 3^rd injection is in October and his 4^th is in November. The rest of Sunday night will be spent getting unpacked and organized. Hoping to get to bed early. We report to Same Day Surgery at 7:30am Monday morning. Colby's procedure is scheduled for 8:57am.

How long will the injection take? Not sure. Colby needs to have anesthesia, so of course his procedure will take longer than someone who just needs lidocaine and no anesthesia. I'm thinking 45 minutes to an hour, start to finish. Then he'll stay in recovery for at least 2 hours. Maybe more since he's getting anesthesia. Once we're discharged, we're winging it. It's recommended that after receiving the Spinraza injection to lie flat as much as possible for several hours after the injection. We've taken out the front seat in the van so we can lean Colby back in his wheelchair to be flat vs riding sitting up like he usually does. I'll give him some Tylenol and we'll start heading home. If Colby starts to have any issues at all, we'll either turn around and go right back to the hospital, or stop where we are, get a hotel, lie him out flat and stay out of town another night. I don't have any idea how the procedure will go or how Colby will react to the drug and the anesthesia. Uncharted territories.

What results will Spinraza have for Colby? Don't know. Only time will tell. At the least it will hopefully stop the progression of SMA. Yeah, not only does Colby have this hideous disorder, it's progressive, meaning he gets worse and weaker as time goes by. Hopefully this drug will stop SMA from making Colby lose anymore lung function and/or muscle strength and mobility. I've heard wonderful testimonies from many SMA parents who say Spinraza is making their SMA child louder, stronger with better head control and improved muscle movement. Yeah, we'd take any and all of the above. Who knows?!

Heck, the Interventional Radiologist could come out and say sorry, we couldn't find an opening in Colby's spine and weren't able to administer the Spinraza. It could happen. Colby could have zero side effects or migraines, spinal fluid leakage, respiratory issues, and who knows what else. I'm opening my head and heart to any and all possibilities with this drug. I'm praying for the best and preparing for the worst. We didn't have a nurse until 4:00 today, so I spent the morning having a long discussion with Colby. I've tried my best to prepare him, but that's kind of hard since there are so many unknowns at this point.

To everyone who continues to follow, love and pray for us during this SMA journey, thank you so much. Actually I can't thank you enough. I'm not going to lie, I'm scared shitless for Colby. There have been times I'm like wait a minute. I'm agreeing to give my kid a drug that may or may not work, and he may or may not have some pretty severe side effects. Sounds a bit cra-cra really. But overall I truly feel trying Spinraza is the best decision for Colby. We can always stop the injections if necessary I suppose. So away we go. We're Spinraza bound!! No turning back now.

BUSTING AT THE SEAMS TO SHARE THIS

It's time to share our big, BIG news with you all. Colby will receive his first Sprinraza injection on September 11^th, just a couple of weeks from now! How about them apples?! I've known about this for a couple of weeks. However, Cincinnati Childrens called once to reschedule. Plus I had an over-the-phone consult with Anesthesia yesterday, and wanted to make sure there were no surprises with that. So I've been sitting on it, making sure it is a total go, and it seems to be. Oh my, the thoughts and emotions running through my little brain right now!

Here's how this will all go down. Colby will get 4 “loading doses” of Spinraza, the first being Sept. 11. Then 2 weeks later on Sept 25. Then a couple weeks later on Oct 12 and his 4^th loading dose is scheduled for Nov 15^th. Yep, we're going to be very, very busy in the near future. After the loading doses, Colby will receive the drug every 120 days forever. Ok, here's the part that freaks me out: the drug is administered via lumbar puncture (LP.) Couldn't just crush up a pill and flush it through Colby's g-tube, could we? Nope, of course not, that would be too easy. The procedure will be done down in the Interventional Radiology (IR) department. I've heard wonderful things about the IR doctor who has given other kiddos this drug from other SMA moms. They've been so busy down in IR giving Spinraza that he has also been training his fellow to do some of the LPs. But I know for a fact the doctor, not the fellow, will be administering Colby's Spinraza.

And how do I know this? Let's just say oftentimes nothing is easy with Colby. Most patients receive this drug with no anesthesia. They lie on their sides or back, are given only a local numbing cream to prepare to get the LP. Well, if you remember, Colby had spinal fusion surgery a few years ago, meaning of course his spine is FUSED. So the trick is to find an opening big enough in that fusion to administer the drug. The IR doctor has looked at Colby's back/spine x-rays and consulted with the ortho doctor who did Colby's fusion. He has said that for Colby, this will be a “very difficult procedure” and that he will be handling it, not the fellow. And Colby will need to have anesthesia. That brings up another can of worms of worries because SMA patients aren't supposed to fast, and of course when you're having anesthesia you have to do that. I've been in debate with the neurologist on whether or not Colby needs to be admitted to the hospital the night before to get PPN for the procedure. She insists he doesn't need it. I insist he does. So it appears we've reached an impasse. She called me yesterday and said now don't worry, Amy, you'll see everything will be fine. I cannot stand when people talk to me like that! Of course SHE'S not worried, it's not HER child undergoing anesthesia and having a lumbar puncture procedure done. I'll be so freaking glad to have this first Spinraza done!

I keep talking to Colby about all this. Trying to reassure him that many other kiddos have had this done and that I would never agree to something for him unless I thought it would help him. People keep asking me how he feels about it. Honestly, it's hard to tell. I've told him several times if he's scared or has questions to please use his eye gaze and let me know. That hasn't happened, so I guess I'm to assume he's ok with it.

What a way to end SMA Awareness Month, huh? To share the news that Colby will soon be receiving a drug to treat his SMA is still mind blowing to me. We've waited 15 years for this. Honestly I thought there would never be a treatment for SMA during Colby's lifetime. And here we are, just a couple weeks away from Colby receiving the first and only FDA approved drug to treat SMA. Yes, I'm scared to death about the whole anesthesia/LP stuff. Yes, I'm scared because we don't really know what to expect in improvements for Colby. We're rolling the dice and taking a huge chance. But I can't let me fear take over the decision to do something positive for Colby. And I certainly can't let Colby sense that fear. So, we're moving forward with Spinraza, and I'm praying I'm making the right decision for Colby. We'll soon find out, won't we?

NO NURSES, NO SCHOOL, BUT REALLY CLEAN TEETH

Greeting from our casa! Colby is getting his IPV and CoughAssist treatments done. I'm watching Ninja Warrior and eating a Lean Cuisine pizza. Aren't you jealous you're not here right now to party down with us? Here are some updates.

We had a good weekend. My brother, sister-in-law and niece were in town for my niece's cross country meet. So they came over afterward and we took our mom out for a belated birthday lunch. I suggested we go to Orange Clover, a cute, yummy, locally owned restaurant. Would've worked out perfect except they are CLOSED on the weekends. What the hell?! What restaurant is closed on Saturdays. Our second choice was Buckheads. Can't go wrong there. Good times were had by all. Then when they left to head back home, I went into work. Packing pills on a Saturday night, oh what fun. Yesterday we took it easy for the most part. I took Colby for a nice long walk. Let him practice driving his power chair. Unfortunately he was in more of a turn in circles mood. His choice I suppose.

The nursing situation stinks even more than it did last week. Broken Wrist is still out and now Nurse Baby Daddy is on paternity leave until Sept 12. We had one fill-in nurse who was working with Colby 2 shifts per week. Found out today she's cutting back to 1 shift. So there's another opening. And the school system's agency still hasn't found a nurse to go to school with Colby until Broken Wrist returns. They asked a nurse who had done home health nursing with Colby for years to do it, but she said she didn't want the job. Not sure what happened there, but I'm not worrying about it. If she doesn't want to do it, we don't want her. So we started the process for Colby to go on home hospital until he is able to start school. This means a teacher will come here to the house twice a week to work with Colby. With any luck, that will get started this week. Actually I think not having nurses here all the time for a couple of weeks is a blessing. Colby and I enjoy our one-on-one time. I'm a little more relaxed without any employee in the house for sure. And on the weekends I can sleep in until 7:50AM! Yes! As long as I can get Colby where he needs to be and work my part time job, we're good.

Took Colby to the dentist last Thursday. I was a complete freakin' wreck. Actually I was a nervous wreck since I made him the appointment months ago. I'm one of those people who hate going to the dentist with a passion. I despise it with every fiber of my being. Probably explains why I hadn't taken Colby in 6 years! Hey, don't judge, we've been busy haha. Last time he went to the dentist it was a disaster. He cried and cried. His heart rate shot up to around 160 and we had to bleed 2 liters of oxygen through his bi-pap the whole time. This time was the complete opposite. It was a breeze for him. And trust me, that hygienist was scraping the you-know-what out of Colby's teeth. I was amazed at how well he did. Seriously, why do I ever doubt this child?! He took it like a champ. A stud. Owned that teeth cleaning like a boss. Kicked ass and took names. The looks he gave the hygienist were priceless. The dentist recommended we take him back in 3 months for another good cleaning, then hopefully we can move to every 6 months.

We went to Colby's school today so he could meet his teacher. Yep, another new teacher for Colby. His teacher from last year has moved to the post-high program. Colby's teacher is especially new. This is her first year teaching. Took Colby's eye gaze so she could see Colby working with it. The first words he said were, “bedroom, bedroom, television.” I said that's Colby's nice way of saying he doesn't want to be here and wishes he was home, in his bed, chilling and watching TV. That kid! I think she might also be the teacher who comes here to do home/hospital with Colby, and that would be awesome. That would give her a great opportunity to get to know Colby. So maybe this whole can't go to school right now might turn out to be a blessing.

Time to tuck in sweet boy. Swimming and bath time tomorrow.

BUSY MONTH - here's a short update

Spinraza: We've made baby steps forward with getting Colby the only FDA approved drug to treat SMA. We did the extra blood work needed, involving a peripheral draw for Colby. In other words, they had to “stick” him and get his blood through a vein and not his port. Not a simple task, as Colby is a horrible stick. The staff at our local LabCorp were fabulous and patient. They were able to get his vein accessed on the 3^rd attempt. Colby's PT/PTT/INR levels were all within normal limits. So, Neurology said they would send the referral to Interventional Radiology so that Colby could get on the schedule to start receiving injections. The Neuro nurse did indeed send the referral last Wednesday; however, the neurologist hadn't signed off on it. This is what I found out today when I called to follow up. Hopefully the neurologist signed the referral today. I'll be checking with IR in the next day or two.

Power chair: Colby is due for a new, shiny, fancy power chair! Insurance will pay for a new chair once every 5 years. Doesn't seem that long since he got his current chair. But hey, if it's been 5 years then heck yeah, let's do this. There are 2 companies we could use in Louisville for the chair. They are bad and worse. I refuse, and I mean refuse, to use National Seating and Mobility here in Louisville. Their customer service sucks at best. Yeah, I said it. They're horrible! We've never used Numotion before, and unfortunately, I haven't heard good things about this company either. I asked several SMA families and PT's their experiences with them. None were favorable. But that's who Cincinnati Children's suggested we work with, so I'll give them a try. Fingers crossed I'm not blogging about how much they suck in the the near future. Wednesday a Numotion rep will be here to access Colby's needs. I've been making a list of everything I like and dislike about his current chair. I'm kind of stressed. I want to be sure we get the best possible fit for Colby because like I said, he'll have this chair for the next 5 years. Then on Thursday we'll go to Cincinnati Children's Perlman Center to meet with their PT and this Numotion guy to firm up the wheelchair specs. Then we wait. And wait. And wait for paperwork to get submitted, insurance to approve or deny, etc. It'll be months before he actually gets this new chair. Oh how we hate the waiting.

Eye gaze: If you remember, Colby got a new eye gaze device a couple of months ago. I've been trying to do better at getting it in front of him and having him use it more. Yes, I could be doing even better. Baby steps, ok? We used some of his birthday money and got him an Amazon Echo. We love it! His speech therapist has programmed several commands on Colby's eye gaze so he can use the Echo. For example, he can choose one button and his eye gaze will say, “Alexa, what's the weather today?” And poof, the Echo turns on and Alexa tells us the weather. Pretty cool stuff. We also did the coolest thing with Colby's eye gaze a couple weeks ago. We made a phone call! How cool is that?! His eye gaze has Bluetooth so somehow (I'm not a technology person for sure) his speech therapist synced her phone to his Bluetooth on eye gaze. I went in my bedroom and closed the door, and Colby called me on my cell phone through his eye gaze! It was amazing! He could hear me through his eye gaze talking to him. He has programmed buttons for this application, too, so he was telling me stuff like, “LOL, how are you,” etc. Currently Colby is sitting up in his chair with his eye gaze in front of him. He has turned on the DVD player, played the Spongebob disc in there, and is watching it in fast forward. Don't know why he likes to do this, he just does. Old habits die hard I suppose.

School: Colby will not be starting school on Wednesday. As I mentioned, we're going to Cincinnati Children's on Thursday. The appt is very early, so we're going up Wednesday evening and getting the driving out of the way. So that really leaves Wed and Thurs out for school. Plus, the nurse that attends school with Colby is still out with a broken wrist. For another 4 weeks! So I've talked to the school nursing agency, and they are working to get another nurse to go to school with Colby for the next few weeks until Nurse Broken Wrist returns. Honestly the school thing is totally up in the air right now. Playing it as it comes along. What other choice do I have?

That's enough updating for now. I'll be so glad when the wheelchair is ordered, the Spinraza is scheduled, and they find a good nurse to attend school with Colby. Then it'll be on to the next group of items needed and/or phone calls to be done for this high maintenance sweet boy.

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?!