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?!