#nusinersen

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If not treated early, this common genetic disorder causes death in infants. Know Spinal Muscular Atrophy health tips, disease information & treatments.

20 (give or take) years. That, my friends, is how long it takes for a bunch of scientists to discover the genetic issues that cause a disease and for a treatment of any kind for the disease to be released (other than just treating it symptomatically). Well, in my case. My entire life can be summed up in a similar number of years. My mom always told me that they had pinpointed the exact chromosome that was malfunctioning in people with SMA right before I was diagnosed.  Now, I finally get to do something about it. So, here I’ll keep my progress of the treatment I’ve been panicking/searching/drooling over for the past four months. A little more than a year ago Spinraza, the first ever gene therapy for SMA, was FDA approved and tomorrow I get my go at it. December 2016 I’m sitting on the bed in the guest room of my dad’s new house. It’s the day after Christmas and I have a sore throat (that eventually ended up in the ICU, save that for a later date). I’m flipping through posts on facebook when I came across a peculiar post on a rare piece of magic... well, sorta. It may be science but it seemed miraculously exciting. A drug called Spinraza which would stop the progression of my disease and was very expensive. That was of all I knew and all I wanted to know at the moment. I called each person in the house to the room one at a time and told them and none of them seemed very cheerful about it. I couldn’t understand why no one felt the way I thought I should feel. And they had a point. It wasn’t a cure. It’s almost a million dollar treatment. It’s done every four months for forever. There is no promise to gain strength. It’s a needle going into your spine. I could go on... And for us, we didn’t know much about the result, but I always held hope a little in the back of my head. I gave up and decided to wait. I heard insurance was hell to get through. Yet, my muscles have gotten weaker... My already painfull major depression just made everything suck, everything sucked. It had been sucking since my pneumonia. Nothing would change what has happened to me, but my mindset needed the change. That's when I realized I had stopped seeing my therapist since pneumonia and I really needed one. I called her back up and the results were amazing. My panic attacks have literally gone from twice a day to once a week. Then, I got the other important thing that helps with depression: Meds? No, sun. I took a cruise. I felt so relaxed and away from my troubles and it was great. I know I seem a little off track right now but stick with me here for a sec. Around this time I got an invite to a Facebook group about Spinraza. I started seeing all these wonderful stories about babies and toddlers. They were breathing without the need for support, crawling, sitting up, and walking on their own. The joy of knowing that these kids would never have to grow up going through the trials I had to was priceless. Nowhere near as many hospital visits, no missing learning important things in school like tying your shoes because you had PT, no difficult special ed bus drivers, no missing field trips or field days.The families would save some pain in the process, too. Maybe this would prevent some siblings from having to go to therapy. Maybe it would even save some marriages. I know having children with disabilities can be a heavy load for parents to carry. Although I know my own parents had their unrelated reasons for divorce, it still stung to think that my disease didn’t help the matter.  While reading and wading through emotional stories, I learned children weren’t the only ones noticing changes, even though these changes in adults were never promised. I heard stories of people who could lift a cup or open a lid. These things may seem minuscule to the vast majority of people, but they can be huge to those who have no way to care for themselves. You don’t ever understand fully until you have to ask others to do everything for you. I heard people were talking clearer. It has always been a fear of mine to lose the ability to speak clearly as it is the only form of control I really have. Just the thought of not having to lose my voice or my already weak ability to pick things up is exciting. And honestly, that right there is the reasoning behind getting this treatment. So I started. My very first step is to research as much as I possibly could. Learning about the procedure, the side effects, and the expectations is very important. I read thousands of comments and questions on the Facebook page and read as much on the official website as I could. I didn’t want to go in and be blinded by complications, so I tried to find a way out of all the problems before I even started the process. Unfortunately, for a person with panic disorder this severe, this caused a lot of stressing about things I never should have had to worry about, to begin with. I also learned every situation is vastly different. When I came across a person in the same state with the same insurance I have, who kept getting denied, I instantly thought I would be in the exact same situation. Turns out I was wrong and I spent a month worrying about it. I can always be counted on to overthink things. My next hurdle revolved around the location of the treatment. While Austin isn’t behind the times when it comes to medical facilities, it is nowhere near the largest or most medically advanced cities in Texas (Texas has 3 of the 10 largest cities in the country in it and Austin certainly isn’t one of them, even though it is the capital). Since at the time Spinraza hadn’t even been out for even a year and the cost was such a large risk, very few places were willing to administer the drug. I pretty much had two options, Dallas and Houston. I looked into Houston and found a place but they wouldn’t take my insurance (aka Government insurance) because of something called “Buy & Bill”, which pretty much means my insurance agrees to cover it as long as the hospital pays for it initially and then gets reimbursed. Obviously, it isn’t the ideal situation. Someone said that university hospitals tend to agree to “Buy & Bill” more often and one of the doctors I was told to look into was at the University of Texas Southwestern in Dallas. When I finally scheduled I had to wait about a month until my appointment. I brought the partially filled out Start form with me and was prepared to start with no idea what the wait time was. I had heard people waiting anywhere from seven months to a year. I got assigned my Family Access Manager about two weeks later. He came out for a meeting and went over everything. Most of this I had already known from my tedious research. He told me that it was my job to be proactive. Implanting myself like a thorn in the side of the doctor's office I fought for speedy results and proved myself a worthy self-advocate. After a couple of months, I received one of those annoying insurance calls where a machine says something to the effect of “blah blah blah your request for a nonformulary prescription has been approved blah blah blah.” I was having a lot of insurance issues at the time, but the call eventually said “if you’d like to know the name of the prescription press 1″ and that is how I found out I was approved for Spinraza. There were still things to do before I could schedule. I had heard something called a Hammersmith test was required to be done by a PT to get approved, but I had been approved without it. Similarly, a CT scan was required to find an opening. The procedure is called a Lumbar Puncture. It is a process of injecting a needle between the vertebrae of the spine to pierce the neural foramen, withdraw 5cc of spinal fluid, and inject 5cc of Nusinersen, or Spinraza. Commonly people with SMA suffer from Scoliosis and require rods to be put in to straighten the spine. When this is done bone grafts are put in to help keep the spinal rods in place. This is a problem because the spaces between the vertebrae are covered by bone grafts leaving no way to directly access the neural foramen. There are multiple ways around this. They can go into the cervical spine (the neck), which is above the rods, but that can be dangerous as there are many important nerves and it is dangerously close to the Spinal cord. They can add a window. This means they perform surgery and cut a small square of bone out of the way. But, all surgeries have risks like infection or respiratory issues related to the chronic lung problems associated with SMA. Choosing the correct fix truly depends on the patient. While I called multiple times to schedule a CT scan, I was finally told that all of that would be handled the day of the first injection. The last thing to do was schedule my first procedure and prepare to make the long journey to Dallas. I don’t know what my results will be and I certainly won’t stop until I try. To be continued... Written 1/10-1/13