Tuesday, December 5, 2017

"Every breath you take is a miracle!"

"How's your breathing these days?" It may seem strange, but this is a pretty typical catching-up question between my friend Anna and I when we hang out... just two little asthmatic chicks looking out for each other. When she asked me last week, I kind of frowned and had to think about it for a minute, trying to recall the last time I woke up congested and rattling, the last asthma attack, or the last major aspiration I've had during a meal. 

But it's been a while. 

In fact, digging through my purse the other day, I found my ProAir inhaler and realized I haven't used it in over a month... a month! For the past couple years, I've gotten used to needing a couple puffs at least once a week. The weather here has been nuts lately, too - dramatic warm/cold/dry/damp conditions that usually aggravate my lungs all the more. So this season of good health can't just be a fluke, can it? 

For the past few days, I've found myself escaping the hectic buzz around me by just taking a slow and deep breath in, and enjoying the clarity, silence, and even strength of it... and then letting it all exhale, just to let another full dose of oxygen fill me again. It sounds crazy, I know, but I think my lungs are actually getting stronger. I think Spinraza is helping to rebuild my respiratory/pulmonary functions - a part of my system that has caused the greatest concern and fear in my life over the past 25 years. 

About 20 months ago, Kevan introduced me to a new song by Switchfoot called "Live It Well." The opening lines are incredibly relevant and powerful, especially to kids like Kevan and I: 

"Take the burden from my arms, 
Take the anchors off my lungs, 
Take me broken and make me one, 
Take the silence and make it a song..." 

We know what those burdens, that brokenness feels like, beyond the metaphorical... that invisible weight of gravity that holds down our arms, and the anchors that press on our lungs. Those lyrics became a deep and resilient prayer in my heart. Before a treatment called Spinraza was announced, a seed of hope grew in me... that somehow the Lord would lift these burdens so we could breathe deep and free, so we could move without restraint. And I think he is answering that prayer. 

"Life is short, I want to live it well,
One life, one story to tell
Life is short, I want to live it well,
And You're the One I'm livin' for
Awaken, O my soul, 
Every breath that you take is a miracle..." 

Thursday, October 26, 2017

Two things tires and Connies shouldn't do

...swell and leak. 

Unfortunately, most of my energy this week has been spent doing these two things. My new surgical incision started seeping at varying intervals and in varying quantities, and my back got pretty swollen and sore, too. I went through quite a bit of sterile gauze, paper tape, Tylenol, and ice packs. When I was up, I wore a back brace like a corset, and when I didn't have to be up, I was laying flat on my bed. When I was at my best, I was praying and singing praise songs, and when I wasn't, I was racking my brain for what else I could do to make the healing process more successful. It was difficult. 

My one-week check-up last Thursday was quite a long, confusing, and exhausting mixed bag, but the best thing that came out of that time was that I was able to get my last loading dose (#4) of Spinraza! So I don't need another one for four more months - that's February, people. Praying that we'll get to see some good progress in the meantime. If I do, I'll be sure to report it right here, so stay tuned!

My two-week check-up today was much shorter and sweeter. I got my stitches out, and miraculously (seriously, it's a miracle) my back has stopped swelling and leaking, and is looking much more normal... well, whatever my "normal" means. So I got the A-OK from the nurse - no more gauze, no more corsets, no more bed rest. To me, this was great news... it means maybe, just maybe I can get back to really living my life. 

Which is a good thing, because tires and Connies are meant to move... there are so many places to go, people to see, and things to do! Look out world, here I come (again)!

Saturday, October 14, 2017

Praying doctors

As usual, things were more complicated than expected with the surgery on Wednesday. The first big issue was getting an IV in me in pre-op. Historically, my little, unstable veins do cause problems with this, but very kind and skilled medical professionals with very high-tech equipment shouldn't be dealing with six failed attempts... and yet they did. I could almost swear my veins saw the needle coming and fled for shelter. 

So after all that, they decided to take me on back to the OR and give me some "laughing gas" - which at this point did not  make me laugh - and try again. As I faded in and out of semi-consciousness, I could tell they were still having trouble and I began to wonder what they would do if they couldn't get a vein. Then I heard the guy who was holding the mask on my face say, "Dear God, please let this work." And then another relieved voice said, "We got it! Guys, we're in!" That is the last thing I remember, and the last thought I had as I fell asleep was, I am so thankful for praying doctors. And I've been incredibly blessed to have quite a few of them this year. 

Apparently the tube had come completely out of the hole in my vertebrae, so I'm glad my neurologist had the good sense two weeks ago to not give me my next Spinraza dose. The surgeon did all he could think of to secure everything so we don't have to do this again - some sort of sealant, extra living tissue, and "tacked" the port in two places (whatever that means). The problem, it seems, is my muscles - they just aren't big enough and strong enough to create stability and provide support for this sort of thing. Ironic, since the point of all this is to be able to get a medicine that could change all that. 

I didn't have to spend the night at the hospital (yay!). I was there 12 hours, and after a cup of pudding and the doctor's approval, I got to come home and sleep in my own bed that night. So, I've been in bed most of the past three days, and plan to continue this until Monday. Praying for everything to heal as it should, and everything to stay in place!

Thursday, October 5, 2017

There's good news, and there's bad news...

The past week has felt like an internal tug-of-was between Tigger and Eeyore:

Image result for eeyore and tigger

I went to the neuro clinic last Friday to get my fourth dose - the final dose of my two-month loading period. The neurosurgeon came in to check on me, too, and he and my neurologist agreed that, while my back was looking much better, it would be a good idea to draw the rest of the fluid out before doing the treatment. They got 70 cc's of fluid off! (That's 12 teaspoons, or 2 fluid ounces, or a standard shot glass, in case you were wondering.) My back felt and looked SO much better, once my camel-hump was gone.

That was the good news.

After that was done, my doctors found that the port/reservoir (the one that was installed, for injecting the medicine) had significantly moved to a different position in my back - placed originally to the left of my spine, it was now on the right side, and was floating further and further east. They became concerned that the tube in my spinal chord had come loose. They had difficulty drawing CSF out. They did not do the injection. They sent me for an X-ray. Over the weekend, I learned that the tubing has coiled up in my lower back, and had pulled further out away from its original location.

That was the bad news.

This must be repaired, if I want to continue the treatments, and that means... another surgery. It's scheduled for next Wednesday. The good news is, my fall break from work is next Wednesday through Friday, so I don't have to miss any days of work for the procedure or healing time; the bad news is, I will be spending my fall break in a hospital and laying flat in the bed for several days, instead of... doing anything else.

A friend asked me the other night if I regret my decision to go through all of this. While I am frustrated and a bit weary, I wouldn't call it regret. If I had known beforehand all of these complications would happen, I probably wouldn't have done it, because I'm not as strong and brave as I'd like to think. But I think that's pretty classic of a lot of things in my life... with so many of my experiences, if God had told or shown me how difficult and painful they would be, I would have refused to be obedient and would have chosen to stay as safe and comfortable as possible. That's why I'm glad he didn't. Those same difficult and painful journeys have become some of the most powerful and beautiful experiences of all. They have led me to meet some remarkable people, learn incredible truths, and see and do things far beyond my craziest plans. God doesn't waste a single ounce - or teaspoon, or cc - of the moments that make up my days. He is able to use and redeem even the scariest, most complicated, most exhausting and hard things, for my benefit and his glory.

And that's the good news.

Sunday, September 17, 2017

The hemming in

My third dose was on Friday, September 1, and it was fine, just not very blog-worthy. Because my back was still quite swollen from the surgery, my doctor used an ultrasound machine to find the reservoir and be precise with the injection. At this point, I have noticed some increased strength and flexibility in my fingers and thumbs... which is definitely encouraging! I'm hoping to continue to see progress there, and maybe attempt some of my old handicraft hobbies again this winter, like crochet and cross-stitch. I found out that my neurologist likes to cross-stitch pictures of the brain... maybe I'll try that, in honor of her support?

The following Tuesday, I had my one-month check-up with the neurosurgeon. I almost didn't go, as I felt like I'd spent enough time at the hospital for one summer. But I do like my neurosurgeon, and thought it would be nice to have him see how well I'm doing... except for that annoying swelling that just won't go down, and those nagging pressure headaches when I lay down. I suppose it's a good thing that I went to the appointment, because when I told him about my two little inconveniences, he took a look at my back and declared (with some displeasure) that I still had a CSF leak from the area where he had placed the tube in my vertebrae. Apparently, I am more active than he anticipated, and didn't lay still long enough for it to fully heal. He explained that he had put some extra muscle tissue around the tube, but that it needed time to heal and seal up the gap where the fluid leaked out.

He gave me immediate orders to take a week off work and lay flat on my bed. I nearly cried, and told him I really couldn't take that much time off - I had too much to do! So he said, "Two days, then. We'll see how you are after two days. I want to see you here again a week from today." So I took my two days off and did what he said. On Thursday afternoon, I called to give an update. Better, but still swollen, still getting headaches. He told me to stay in bed until my appointment on Tuesday - sneaky little bugger, ended up making me stay in bed a week anyway! Then the ominous news: "If I'm not pleased with the progress by then, we may have to do another surgery."

Oh God, please not that. 

There was a shift in my spirit. I could feel fear and frustration and anxiety and despair begin to creep in. Stillness and silence can be a breeding ground for all sorts of psychological and spiritual battles. I had this surgery - I was getting these treatments - in hopes of being stronger and more active, and here I was, able to do nothing at all but lay down and wait. I needed to proactively fight the brooding darkness... so I prayed for help and grace and courage.

And then I sang. I mean, a lot. And loud. For...hours. I sang praise songs, songs of hope and truth. And I felt my spirit lift and embrace joy. During this time, God brought to my mind this verse:

And it comforted me. I thought of Jesus using his personal sewing kit and stitching up all the gaps in my back where spinal fluid was leaking out, and then stitching up all the gaps in my spirit where trust and hope was leaking out. I claimed this verse in the most literal way I could, trusting that he has and he will hem me in. It was the sweetest and most intimate time I've spent with my Savior in a while. As difficult as it is for me to be still, that's exactly what I needed, to remember that it is God who heals, who redeems, and who makes all things beautiful in his time.

The week finally ended, and my second appointment was much better. The swelling has gone down quite a bit and my headaches are gone. The surgeon was pleased, and said I could return to work, as long as I tried to rest and lay down as often as possible. I am trying my best! The next injection is September 29, and the surgeon has requested to be present for that to check my progress. Please pray for continued healing in the meantime!

Thursday, August 17, 2017

Second dose!

This afternoon, I received my second dose of Spinraza. I went to the hospital a little early, to do lab work, and then headed down to the neuro clinic. Honestly, there's not much to say about the actual treatment time - the drawing blood in the lab felt more traumatic than the needle in my back. I think that is mostly due to the shunt/reservoir placement, which makes access so much easier. Plus, I have a really wonderful neurologist! It went smoothly and took less than five minutes, I was in no pain, and I'm feeling good this evening.

People have been asking me if I feel any different yet, and I can't honestly say that I do, in terms of strength and mobility. I wasn't really expecting to this soon, though, and I'm trying not to over-analyze any bursts of energy as part of the healing. I think the work that is happening right now is the slowing down and stopping of the progression of the disease... which in my imagination looks a lot like Superman stopping a plane crash:

Pretty insanely epic, though hard to clinically measure or physically feel. However, I will let you know if I notice my superpowers evolving in the future! ;)

I was remembering that when I was in the neurosurgical unit at the hospital, there were quite a few doctors, nurses, and other medical professionals who knew very little about, or had very little experience with, SMA... which at first seemed weird, since it is, afterall, a neuromuscular disease. But then I realized that it's probably because there hasn't been a neurological treatment for SMA until now. Before Spinraza, SMA patients were primarily seen by orthopaedic specialists, because the main plan of care involved physical therapy... and even that was focused on children, not adults. I haven't had formal physical therapy in fifteen years. This new drug is really going to shift some things in the medical world!

Today, my doctor said that the neurosurgeon who placed my shunt is getting ready to do the same procedure on another adult SMA patient soon, and they are even talking about building a special program at the hospital to provide this option to other similar patients. Can you imagine?? And I got to be the first one! They must be pleased with the results, if they want to do it more. I feel so honored to be a part of blazing that trail.

Saturday, August 12, 2017

"Failure is not a problem to be considered!", or "How to manage headaches"

It's been quite the week for me, and not in the typical "amazing life of Connie Chandler" kind of way. Headaches have continued, along with nausea, aches and pains, exhaustion, apathy and emotional battles. Multi-level discomfort has a crude way of chewing up and spitting out joy and hope in a broken, soggy, sloppy mess. Needless to say, I have not been myself, so I've intentionally stayed away from blogging so as not to depress you all. But I'm back now!, which must mean...

I finally feel myself coming back! 

My neurologist has been pretty wonderful this week, calling me daily to check on me and talk through my symptoms. She basically put me on bed rest for the week, telling me I was overdoing it and I just needed to slow down and try to let my body heal. My worst headaches have been in the morning when I go vertical, and she said there may be some fluid leakage around the shunt in my spine that is causing that. Since the headaches seem to be gradually improving (shorter and less severe each day), she's hopeful that it will heal itself, if I don't put too much strain on it this week. She also ordered some nausea medicine for me, and talked to me about the importance of taking pain medicine at regular intervals (rather than waiting until it's unbearable). Oh yeah, and she said caffeine is good for headaches, too. 

So, for the past three (incredibly long) days, I have been laying down, binge-watching "Chuck," reading books, listening to music, and taking my meds like a good little patient. I must also say I've had some exceptional company, too - thank you to all of you who have come by to eat with me, hang out, care for me, pray with me, and spend the night with me. You have kept me from going crazy, and reminded me that I am not alone in this.

This morning, my initial bad headache only lasted about 10 minutes, I had a delicious cup of Earl Grey tea, and then I realized that I feel different - but in an old, familiar way. I feel more like myself - happier, more energetic, stronger, and more focused. I celebrated by playing a round of "Words with Friends" on my phone and beating EVERYONE. (Maybe not everyone, but it felt like it!) Also, I celebrated by writing to you. (Don't you feel special?) I'm still going to take it easy today and tomorrow, because I begin work next week, and would like to be at my best. But it is encouraging to feel the joy and hope reviving in me. 

I mentioned emotional battles, and one of the biggest is doubt and fear. Did I make a huge mistake in all this? There have been so many moments in which the solution seemed obvious - just quit while you're ahead, it's not worth it, and no one would blame you if you backed out of this now. Failure has felt like a reasonable option this week, and that is scary. But the other day, Kevan read to me over the phone - he read "The Snow Sand" scene, from The Princess Bride. It is one of our favorite parts of the book, and we often read it to each other in times of distress. It's too long to write it all out here, so I do recommend you get your own copy to read (this scene is nestled in the middle of chapter 5), but I will end this post with just a few lines from it that have helped me through the difficulties of this week: 

"To release the vine was truly madness. There was no possibility of forcing your body all the way back up to the surface. A few feet of ascension was possible if you kicked wildly, but no more. So if he [Westley] let go of the vine and did not find her [Buttercup] within a finger snap, it was all up for both of them. Westley let go of the vine without a qualm, because he had come too far to fail now; failure was not even a problem to be considered... he reached out blindly with both hands now, scrabbling wildly to touch some part of her, because failure was not a problem; failure is not a problem, he told himself; it is not a problem to be considered, so forget failure; just keep busy and find her, and he found her..." 

Through Christ, I am strong and courageous and victorious - even as I lay on my back and wait for equilibrium to return, I remind myself that failure is not a problem to be considered - press on and don't look back! The adventure continues ahead! 

Sunday, August 6, 2017

Three days later

My first couple days of recovery were pretty good. I mean, I was tired and in some pain, but no more than I really expected. But today was different... today was not a good day.

I have been trying to wean myself off the hydrocodone pain meds, stretching it out to six or seven hours between doses yesterday, and then being able to sleep through the night last night without it. When I woke up this morning, I had a feeling I'd be sore, and I was, so I took some more medicine before I got out of bed. As I was getting dressed, my head started to ache all over, so I could hardly stand light or sound. The doctors said I would likely experience headaches because of the loss of spinal fluid, and that laying down would help. So I reclined in my chair for a while and felt better. I decided to get up and have some breakfast, but the headache instantly came back and worse, I felt nauseous.

From there, the day got worse... getting sick multiple times, having migraines, sleeping it off, not having energy for anything else... it's about as close to experiencing morning sickness or chemo side effects as I can imagine. I don't know how accurate that is, and I'm truly sorry to those who have endured those things and know I'm not even close, but it makes sense to me - I have this foreign object inside me, and a new cocktail of medicine that I've never had before, fighting against an enemy I've been tolerant of for 32 years. Who knows what's happening today on a molecular level with my body?

As the day ends, I'm feeling stronger and more stable. I've switched from Hydrocodone to Extra Strength Tylenol. I'm not nauseous, and my brain doesn't feel like its forcing its way through my head anymore, so that's good. Mom made my favorite homemade cookies, Dad worked a crossword puzzle with me, and we watched Anne of Green Gables, so body, mind, and soul, I am much improved.

Kevan sent me this quote tonight, from J.M. Barrie's book, The Little White Bird, which he said reminded him of an interaction between me and God right now:

David: "Is it going on now?" 
Barrie: "What?" 
David: "The adventure." 
Barrie: "Yes, David." 

I don't know if my pain and sickness today was due to the surgery, the drug treatment, or the pain medicine, but whatever the cause, I know it was just part of the journey - part of this adventure that God and I are taking together.

Friday, August 4, 2017

It has begun!

The surgery went very well on Wednesday. They had scheduled me to come in at 3:30, but they called at 12:30 to say they could take me as soon as I was able to get there. So, mom and dad and I left the house at 1:00 pm, and from there everything felt like it went so swiftly, I wonder now if it was just a dream.

The anesthesiology team was remarkable. After my pre-op appointment on Monday, they worked to put together some creative "plans A, B, and C" to ensure the smoothest and least traumatic scenario possible for my intubation and positioning. The surgeon told my parents afterward that because of the curve and twist of my spine, he put the shunt on the left side, and while it took longer than he anticipated (about two hours), he felt confident that it was secure and well-placed. I have a two-inch vertical incision with staples that will be removed in two weeks. They were able to take me off the ventilator before they moved me from the OR to the ICU.  It was 6:15 pm when I remember waking up in ICU, just at the radiologist came to get an x-ray of my back. I got moved into my own room about 7:00. The doctors wanted to keep me overnight for observation, and there was talk that I might receive the first dose of Spinraza the next day before being discharged.

For the first couple hours in my room, I coughed quite a bit - my throat was irritated from the tube, and I had a lot of secretion in my throat and chest that I was having trouble clearing because of the pain and exhaustion. But a respiratory therapist came in and gave me a treatment, and then used a cough assist machine with me (such a life saver!), and after that I had no respiratory issues at all - the nurse even took me off the little annoying oxygen tube in the nose before I went to sleep! Praise God, the thing I was concerned about most ended up being no problem.

I did apparently bite my tongue during the procedure, and have the teeth marks to prove it, and my right hip is pretty sore from being stretched out while I was on my stomach, but these were so minor, I continued to praise God. Mom stayed with me overnight, and she played my music and read to me when I couldn't sleep. The nurses were very kind and helpful.

The next morning (yesterday), the surgeon came in and said everything looked good. Then my neurologist came to check on me, and we agreed to go ahead and administer my first dose. With the surgeon's help to know exactly where to put the needle, she was successful, and in less than two minutes, it was done! One hour later I was discharged, and I arrived home again at 1:00 pm.

The loading period for Spinraza is four doses in eight weeks, so I will go in again on Aug. 17 for dose #2. I don't know if I'll notice any difference in these next few weeks, but I plan to journal regularly about it all. My neurologist said that as far as she is aware, there are few hospitals around the country that are treating SMA Type 2 adult patients with spinal fusions. I am unaware of anyone else like me right now. Kevan said that one of his friends called me "Neil freakin' Armstrong," which made me laugh, but I do hope that what I'm experiencing will help to make this possible for others.

Friday, July 28, 2017

Take #2!

For my personal assurance, I visited my pulmonologist this week, who knows me well. I explained to him the surgery I was considering, and about my concerns. He got a chest x-ray and spirometer test, and said that my pulmonary strength and health have been stable for the past year and a half. He believed that while the intubation was risky, that in my condition it was an acceptable risk. Just hearing him say that made me feel more comfortable. Then he said, "And of course, we can always pray!" and he prayed with me right then and there. That gave me the courage I needed to make my decision.

The surgery is now scheduled for August 2 - less than a week away. OK then, let's scale this fence!

Friday, July 21, 2017

Scaling the fence

I had an appointment yesterday with a neurosurgeon at the hospital, to discuss a new course of action, recommended by my neurologist. The appointment was very informative, and I felt comfortable with the surgeon, but the whole thing still made me nervous.

He explained the procedure he wanted to do - a lumbar peritoneal shunt. He showed me a thin tube connected to a small bubble-like port. He explained that he would drill a hole through my fused vertebrae, to access the spinal chord, then insert the tube there, and fix the port just under my skin on my back. He said that because of the way my vertebrae are fused, there was no other way they could see to access my spinal chord. But in placing this shunt, my doctor would have easy access to the port, to draw spinal fluid and inject the Spinraza drug, sort of like an IV. This surgeon has done the LP shunt placement for many patients with similar scoliosis and fusion issues, so he felt confident that he could do this for me, even though I am the first patient at this hospital to receive this drug in this way. 

The two things I was most concerned and anxious about actually had nothing to do with the shunt itself. The first thing was that I'd have to lay prone on my stomach for the procedure (which I haven't done in about 20 years) and that I would need to be intubated (which I've not had good experiences with in the past). Of course, the surgery wasn't completely risk-free either, what with risk of infection and loss of spinal fluid.

This all felt a bit like when my friends put me in a backpack to carry me up a fire tower in a park in Indiana. I wasn't a bit afraid, just excited to do something new people I trusted. What I didn't write in that post (for legal and family purposes) is that when we arrived at the fire tower, just before sunset, we found that there was an 8-foot high fence topped with barbed wire that surrounded the tower and was locked. Before we could climb the tower, we would have to figure out a way over that fence. That's when I began to feel fear and dread, and second guess my ambition. 

When I first started on this Spinraza journey, the stakes were low, and I felt no fear or worry. All that was required was a few minutes of discomfort, a few times a year. But this surgery felt like that 8-foot fence - it was something I hadn't planned on, and was more risk than I bargained for. But in order to experience the adventure, I'm going to have to experience the risk...

Wednesday, July 12, 2017

Personal goals

I got to meet with my Biogen counselor today for the first time in person. He was in town to meet with some doctors at the hospital, and took some time to meet me at my favorite coffee shop.

While I sipped on my chai latte, he asked if I would mind sharing some of my history with him. Most of the patients he works with are infants, so he can't talk with them directly, and there isn't much to their life story yet. It made me realize again that I am in a small percentage of SMA Type 2 adult patients who are currently pursuing this treatment. So I happily shared my story, including a lot of what I wrote in my previous blog post.

Then he asked me about my treatment goals: "What results do you hope to see through this drug?" That's what I call the million-dollar question, and I told him about my struggles with having so little information.

He explained to me that the reason there aren't solid answers about results is that every SMA patient's weakness progresses differently. Even looking at the difference between my brother Kevan and I, who are close in age and are from the same immediate family and have the same diagnosis - we have had very different manifestations of our weaknesses, and have our own unique abilities as well as struggles. Thus, we would have different responses, and different response rates with the drug.

He said that a good first-step goal is to stop the progression of the disease. This is the top priority! If the progression stops, I can stabilize and maintain my current abilities. From there, I could have new goals for rebuilding and restoring lost strength. I would create a timeline of my weakness, and work out goals in reverse. For example, what could I go 6 months ago that I can't do now? So for me, my hands and throat are the areas I've experienced the most recent weakness in, so they would be the muscles I would work to restore first.

That conversation really helped me! At least now I have some initial goals. Now, if I could just get started with the treatments...

Sunday, July 9, 2017

Introspection in the pause

It's been over two weeks, with no decisions made and no plans confirmed. The "radio silence" has given me more than enough time for introspection. Last night, I talked to Kevan on the phone about my anxiety, and he gently said, "You know you don't have to go through with this." He's right... So why do I want to do this? Is it worth all the waiting, the pain, the risk, the complications? If there isn't dramatic change, if I don't see remarkable differences in my abilities and strength, why would I put myself through this?

If I'm not expecting a miracle, what am I expecting? And why am I not expecting a miracle? Something I've prayed for 33 years is now here - why shouldn't I expect a miracle?

I don't need a miracle... not really. My life and my faith have grown strong on the foundation of God's power being made perfect in my weakness. I've had years and years to learn peace and joy in my diagnosis, and many of my role models are incredible people who live with disabilities. I like to think I've become strong by "growing weaker with grace." I can honestly say that I am OK with who I am, who God's made me.

And yes, God's made me with weak muscles and a crooked back. But he's also made me with an adventurous spirit that doesn't want to resign itself to the fate of a medical diagnosis as long as there is hope. In the quiet moments when I lay still in my bed, I often imagine and dream what it would be like to walk, run, dance, drive, stretch my body, wash my hair, cook a meal, roll myself over in bed... These are just some of the things I truly long to do... things I believed I would never do in this life.

But what if... I know there is no promise or guarantee, and no doctors have even suggested this to me, but what if I do have the chance to do even some of these things in this life? How would it change me, my relationships, my faith, my testimony? How would it bring glory to God? Lord, you know I want it to. There is so little that the doctors know at this point, but the unknown possibilities are exciting to me, because it means there is no limit to what God could do.

I'm going to reset and try this again. This time, I will face these risks and fears for the sake of a new, exciting, grand adventure. My faith, trust, and hope is not in medicine, but in God alone. I know he can find a way to make this treatment possible, and I know he can work it into my body in miraculous ways, and I know he will use this entire experience to deepen my faith and bring glory to him... and I trust that people I know and love will turn their hearts to Jesus and praise him because of it.

Friday, June 23, 2017

Disappointed, but not in despair

Well that did not go as any of us hoped. The radiologists had trouble finding an injection site where they could draw spinal fluid and inject the drug. Three different doctors attempted three different angles, and multiple punctures over two hours, with no success.

And it hurt. A lot. I went into the procedure knowing that it would. Like Westley from The Princess Bride, I figured I could "cope with torture" - especially if it was brief and successful. I expected it to take a few minutes, and that I'd be out of there in an hour, with a miracle drug flowing through me. But after an hour of unsuccessfully poking around inside me, I started to moan, then cry. My resolve was melting. I gritted my teeth and gripped my pillow and tried to think of Captain America and Westley, and begged God to guide the need to the right spot so this could all end well.

But He didn't. With every new poke, I became more disappointed, discouraged, scared, frustrated and angry - not with the doctors, but with God. After all, my hope had been in Him, and now everything that hurt seemed to come from him. He'd gotten me into this, but wasn't getting me out. I felt abandoned and alone. Another hour of pain dragged on before I said I didn't want to continue (the doctors had been willing to try as long as I wanted).

The doctors decided the best next step would be to get a CT scan, for a clearer image of my spine, so they could regroup and work out a new approach. They took me right in for the scan while I was there, and the staff kept telling me how brave I was. But I didn't feel brave.

I felt weary and raw, but deep inside I knew that my attitude and perspective was wrong. God heard me, saw me, and loved me like he always has, and just because he didn't do what I wanted him to do, when I wanted him to do it, doesn't mean he isn't in control and isn't working it out. He is, and he will... I know.

The CT scan results came back today, and the bottom line is that there is just no space between my vertebrae to put the needle in, because of my fusion. The needle was literally hitting an impenetrable concrete wall. The radiologists are not going to be able to do the injection. But my neurologist is awesome, and has not given up yet. And I don't think I've given up either.

Wednesday, June 21, 2017

Super soldier time!

Tomorrow is my first treatment dose! I'm supposed to be at the hospital at 8:30 am for lab work, and at 10:30 am I will go to the radiology department, where the doctors will use a fluoroscopy X-ray machine to monitor where they are inserting the needle.

See, like many other SMA Type 2 patients, I had back surgery at ten years of age - two L-shaped metal rods were placed on either side of my spine, as well as spinal fusion. I had this surgery because of extreme scoliosis, which for me was C-shaped. So because of the curve of my spine and all this "hardware," the lumbar puncture was not going to be easy, to say the least. The radiologists and neurologists have consulted together and come up with a plan of action that we all feel good about.

I can't help but think of that movie scene, when Steve Rogers is transformed into Captain America. This weak little nobody gets genetically altered into a powerful hero. I know that isn't what is going to happen to me - I mean, I know I won't instantly walk out of a steaming chamber with a perfectly sculpted body and superhuman strength... But I honestly don't know what I will experience. Will I feel any different? Will I notice any change? How will my body, mind, and spirit respond to this real-life genetic alteration?

I haven't allowed myself to dream too big or expect too much... there is so little known, and I don't want to jump to conclusions or have false hope. I have a strange sense of calm about tomorrow.

Monday, May 22, 2017

The short version of a long story of waiting

One big (constantly recurring) theme in my life this year has been waiting on the Lord, and surrendering to his peace in the long pauses between action and milestones. I wouldn't want to bore you with all the lulls, so I've made a brief timeline for you to see what's been happening over the past five months...

December 24, 2016 - My family received an email notice that the FDA had approved the first drug treatment for children and adults with Spinal Muscular Atrophy (SMA). This is something we did not expect to see in our lifetime. I remember just sitting in the kitchen with my mom, sharing speechless looks of shock, neither of us being able to wrap our minds around the implications of this breakthrough.

January 4, 2017 - I met with my family doctor, who has known me for almost 30 years. I showed him the research I'd found, and asked his opinion. He recommended that we find out if any hospitals in North Carolina were offering this treatment, and had his staff look into it.

January 18 - The nurse at my doctor's office called me with the names of several local neurologists who were willing to attempt the treatment.

February 1 - I met with a neurologist who was very personable and professional, who listened to me and answered all my questions. Because of this, I knew I would feel comfortable taking the next steps.  The treatment is done through a lumbar puncture, or spinal injection, and risks include headache, pain, and complications with kidneys or respiratory health. Most research focuses on young children, and has results such as stopping and even reversing the effects of the disease. She was cautiously optimistic that this drug, Spinraza, would have a positive effect on me, even as an adult with significant atrophy, though the details of that were still unknown. Ironically enough, she said that I needed to have blood drawn for genetic testing, to confirm my diagnosis and qualify me for the treatment. See, as a baby, I had a muscle biopsy, and that was all... that was before genetic testing was really "a thing."

March 3 - My genetic test results came back, and after spending 28 years in a wheelchair, it is official - I do indeed have SMA, Type 2. Here's a good website that summarizes what that means.

May 15 - I talked to a Biogen representative on the phone, and was approved for patient-assistance drug insurance plan. This is incredibly good news, since I only have Medicare, which would pay for 50% of this $125,000 (per dose!) drug. At this time, Biogen also connected me with a counselor/representative/advocate who would follow my case and help me along the way.

May 17 - At a second consult with the neurologist, we set a tentative start date and discussed best options for how to administer the drug.

- - -

Of course, this timeline actually stretches back much further, almost to the beginning of my life. I was diagnosed with SMA Type 2 in October, 1984, when I was 18 months old. At that time, there was very little known about this disease, only about six paragraphs in the medical journals.

I remember praying as a little girl for healing - begging and crying and asking God to strengthen my muscles. It has been a 33-year tension in my faith to accept the truth that my loving, powerful, miracle-working God chose not to heal my body in this world.

And now I have a neurologist who has put in the prescription and ordered my first-appointment base line labs. I am on the "ASAP" list - when Spinraza is delivered to the clinic, we can begin treatments!
Even though I know the risks and how painful and uncomfortable the treatment will be, and even though the extent of the results are unknown, I cannot help but feel hopeful. This research has been progressing for years - since I was a little girl. God heard me, and has been developing a miracle - not just for me, but for thousands of others who are living with SMA.