So I am pretty slow in getting around to writing this post. I have had so many people ask about it, I've been wanting to write it on the blog. But I've also re-written it in my head a million times. I think last I left off, we were scheduled to have the EMG done for Benson. We had test results saying it wasn't muscular dystrophy, but not much else. We did the EMG and the doctor commented that he was textbook SMA. We drew some blood and waited three LONG weeks for test results to come back, then another week to get "research level" details. Positive for SMA with three back-up copies of SMN2 gene. The back-up copies give you a clue as to the severity of the disease. Type 1 will have as little as one copy and type 3 will have five or more. So Benson is considered a strong type 2. When I talked with the SMA nurse, I told her we wanted to get in to meet with the SMA team ASAP because I am now full term in this pregnancy and baby could be making a debut anytime. We were able to get in pretty quick. I feel like they really pulled some strings to make it happen.
So let me explain SMA a little, or at least what I understand so far. I am still sort of grappling at everything there is to learn. SMA is a genetic disease. It is autosomal recessive, meaning that both parents have to be carriers. It is estimated that 1 in 40 are carriers of the disease and 1 in 6,000 babies have the disease. I guess that still makes it pretty rare, but I was kind of surprised I had never even heard of this disease. I mean, I've heard of other diseases that seem even more rare. So what is it? It is a neuromuscular disease. His muscles are actually fine, albeit weak. The motor neurons however, break down and the messages just don't get to the muscles. Sadly, we all know too well with muscles, you use it or lose it. His sensory neurons however, are unaffected. He feels pain, hot, cold, and is definitely ticklish. The disease is progressive, with most strength lost in the first 30 months and then a plateau. The disease will spread to his intercostal muscles, the muscles between ribs that assist in breathing and eventually cause breathing difficulty.
So....meeting with the SMA team.....
We started out having an eval with the physical therapist. She was super positive and made me feel really good about Benson's strength. She said there is another boy, about his same age, size, and strength that she wanted us to meet and have Benson try his equipment. He has a vest, braces, stander, and wheelchair. We still haven't met them, but we are getting something set up for possibly this Monday. But the physical therapist pointed out that we really have no idea what Benson is capable of. He could possibly walk, he just have to keep working with him and keep trying.
Second, we met with Dr Swoboda who is the SMA specialist at Primary Childrens. She wanted to do a CMAP, which looks at his neurons and gives a baseline reading of how many he has. From there, they can re-evaluate every now and then and see disease progression. This involved having to give him versed, which he hated. This test was similar to the EMG, where they put sensors on his hand and administer tiny shocks to the neurons. They are also able to "hear" his muscles. Benson did okay with the test, considering his current dread of doctors. He hates doctors right now, he even threw a fit getting weighed. Not a good sign. The doctor was also concerned about Benson's considerable off-the charts low-weight. So they took some blood from his femoral vein to test his amino acids and fatty acids. This was a chore, again. Benson has hard veins to draw from for some reason. After that, they wanted to show us how to use a machine called a "cough assist." This was probably the most traumatic of the day. It's basically a machine that forces air into the lungs and then forces it out. It is especially helpful when kids with SMA have colds, because they can't cough productively. You can use the cough assist and then suction out whatever it pulls from the lungs. You have to put a mask over their nose and mouth and hold it there while the air is forced in and out. Even with the versed still in effect, Benson threw an absolute fit. It was traumatic for all of us. The doctors recommend using this machine twice a day for a few breaths. It helps to keep their alveoli open and their oxygen saturation high. We have to work with our pediatrician to get it approved through insurance. Along with a suction and a pulse oximeter. We can put that on him at night, when he is most likely not getting enough oxygen to see where he is at.
The nurse also discussed meeting with a pulmonologist and then getting referred to do a sleep study. I'm not exactly sure how they would do that on a toddler, but then they would know whether or not he needs to be on bipap at night. Bipap are those incredibly uncomfortable looking machines that also force air. This will take months to get approved so it probably won't happen before we leave Utah. But they want to try anyway, it's always worth a try, right? So three hours later, we were done meeting with the neurologist. We were also supposed to meet with the genetics counselor and the dietician but we were completely out of time and Benson was completely out of sorts. I had gone from really positive about things with the physical therapist, to feeling more than overwhelmed with all the equipment he "needs." In just three hours I had gone from feeling that he was completely normal, just a little weaker than most (okay so a lot weaker) to wondering how I was going to handle three. I was feeling like his condition was worse than I had thought. He felt like he would never have a normal life and would be considered "medically fragile" by everyone.
So since this appointment, I have been in contact with the dietician and the genetics counselor. The genetics counselor had amazing news for us. That is that any more kids we have with SMA will most likely also have three back-up copies of the SMN2 gene. This means, Jon and I most likely would not have a type 1 baby. Three back-up copies can look different in every child though. Benson is a stronger type 2 so we could have a weaker type 2, the same, or even stronger still. But I was just relieved to find out that chances are small of having type 1.
We had to keep a three day food journal for Benson to give to the dietician for evaluation. Hopefully she has some good ideas to help get some weight on the poor guy. Whenever I look at pictures of him with all his chub, I can't help but wonder how he lost so much weight so quickly.
I can't express how much I feel like our family has been blessed. Don't get me wrong, life is stressful right now, and so up in the air and crazy. But it is amazing to me how everything always works out for the best. It is really trying my faith and causing me to put my trust in the Lord in a way I have never had to do before in my life. I try not to worry about how I am going to handle three kids under three, one of him is slightly more "needy." I really do feel like we were supposed to have this baby now. For whatever reason, this baby is coming exactly when our family needs them. I won't pretend it isn't going to be hard and there won't be days I'll cry like a baby myself because it is so hard. But I do have that assurance that this is what is best for our family and for some reason it's how our family should be.
The other crazy antics going on right now are Jon's clinical schedule. We left Denver the last Friday of February. We were supposed to start up in Logan the following Monday but Jon got an email that weekend saying Logan wasn't ready. It would probably be a week. That week came and went and Logan still wasn't ready. It has been nice for Jon to have some time off, (if you can call it that, now he just spends hours and hours studying). The last word we got Jon will start in Logan next Thurs, March 15. And then we will most likely be in Logan through April. May? Well, that's a little far out for us to be informed. We might be in Salt Lake but we also might go to Florida or even Missouri. Having a plan would just make things too easy, wouldn't it.
So since Jon has all this time off, it would be perfect timing to have a baby, right?! Yes, well baby has other plans. So far, nothing. I am sure I will go into labor March 15 just because that would probably be the most inconvenient day possible. I think at this point, I feel like I would want to have this baby before March 14 or not until the very end of March. That would give Jon a week or two to get settled in at Logan before he had to "ditch" out for that wife of his that refuses to be induced. Guess we'll see.
Speaking of babies, we need to get a good double stroller. We are leaning towards the Delta LX umbrella stroller. Anyone ever tried this one or have another that they really like? We need portability and convenience. We have the Chariot for outdoor activities, like jogging and biking.
I have also been considering getting the Fisher Price Newborn Sleeper. I keep hearing that babies sleep amazingly well in these. I need something that this baby can sleep well in, and that won't take up lots of space since space is a luxury we don't have. Anyone try one of these?
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