13

The blood test result came back negative. It's not SMA.

That gives me a lot of hope. Today was the first time I left the hospital not depressed.

The next steps they want to take are a lumbar puncture and muscle biopsy.

Camping at Harrison Lake

I went camping for the May long weekend, from Friday night to Monday afternoon. I saw a rehab doctor on Friday morning, and when I mentioned that I had plans to go camping over the weekend, his response was, "I don't think so." He didn't actually say "no," so I took that as more of a guideline than a rule. Besides, with my condition getting worse, I want to be out doing things with friends and not staying at home. There will be lots of time for that if I can't overcome it.

I am never going offroading in my Accord again. Next time, we are renting an SUV. It is much less stressful when the vehicle isn't mine. We camped about 35 km north of Harrison Hot Springs, up Harrison Lake. The 35 km were along a dirt logging road, which involved driving through huge sinkholes and three streams, each stream up to a foot deep. Due to some logistics problems fitting everything into the car, we lost a lot of time unpacking and repacking everything and leaving behind things that we wouldn't need, first at Mike's place, then at Amy and Sarah's. We got to the logging road at around 9pm.

Sunset is at around 9pm, so it was dark going down that road. We went through a roadcheck entering the road; all they wanted to know was if we had any open alcohol in the car. After crossing the second stream, we drove up a hill and there was a truck with its headlights shining at us. As I approached within 10m of the truck, blue and red lights flashed on it and a conservation officer appeared out of the pitch black. He took a look at us and told us we were the first people to go past that weren't doing 500 things wrong and to bring more of our friends. I think Amy sitting behind me, holding a tupperware container of homemade cookies, might have helped too. If only he knew what our friends really are like.

I think we arrived at around 11:30. It was raining and it was a long drive going 10-20 km/h in the pitch black, with no way of seeing how deep the streams were in the dark. I could hear the sound of a river when we unpacked, but it was too dark to tell where it was.

The next morning, when I stepped out of the tent, my first comment was, "wow, there's a river next to us!" It was huge and fast flowing. Maj swam across it later in the weekend and ended up about 30m downstream on the other side.

There were about 25 of us altogether, and I am really impressed with the group of people there. I needed a lot of help getting around. I couldn't get out of the tent without someone lifting me up, nor could I get out of the lawn chairs (they were the foldable ones that you sink into). For some of the bigger, stronger guys, they just lifted me up like I weighed nothing.

We had a hot tub going on Saturday. Some of the guys brought an 8'x4' inflatable kiddie pool, a bilge pump, two garden hoses, and about 50' of 3/4" coiled copper piping. They put the copper coil into the hot embers of the campfire, used the pump to pump the water out of the pool through the garden hose, into the copper coil, then out to the other hose and back into the pool. Saturday ended up being the trial run. I think they gave up on it at around midnight or 1am after they couldn't get the water hot enough. Some of the guys tried it anyway and figured it would feel hotter if they did a river dance in the glacier cold river before going into the pool. They started earlier on Sunday and managed to get it hot enough to sit in by late afternoon. It wasn't as hot as a real hot tub, but it was warm enough. I really wish I could move around normally. I want to do all the stupid things that everyone else was doing.

I woke up on Sunday morning writhing in pain in one of my muscles or ligaments in my right leg. Amy went to get Sasha (a RN) who gave me some T3s for the pain. I felt a mild pain on Saturday but it didn't seem like anything. I think I overexerted myself from the drive to the campsite. I drove for more than six hours, and a third of that was constant braking and accelerating on the dirt road. I took T3s throughout the day, and then regular ibuprofen after that. The pain slowly went away over Sunday and Monday, and I haven't taken any Tylenol all day today. There is still a mild pain, but I can live with it. I would rather not take a pill if I can avoid it. The pain is there for a reason to tell me something is wrong, and otherwise I'm just masking the pain and might make it worse by exerting myself too much again.

I am very glad I went. Although it rained for almost the entire weekend, Sunday afternoon was awesome with the sunshine. I spent the weekend with a great group of people. It was really nice being waited on by the girls and having food brought to me, but I still would rather have been able to cook for myself. Thank you to everyone who helped me out over the weekend.

The photos are posted in the photo gallery.

12

Turns out that the doctor I saw today is an outpatient rehab specialist and not a physiotherapist. He did the usual tests all the other doctors did and then explained to me what was going to happen. He focuses on the prognosis, and he is going based on what the neurologist thinks I have. That means he is going to treat the symptoms and not the disease. He told me that any exercise I do at this point will just make me weaker and I'm at the point where he wants to check me into an inpatient clinic near the BC Children's Hospital to work on my strength. Normally they only accept patients who are already in a hospital. It will be a few weeks before that happens though.

SMA

This is a pretty good overview of how SMA is inherited. The last paragraph describes what SMA does to the human body. It's really hard to believe that this is what I have with no family history. Both of my parents need to be carriers.

Source: http://www.fsma.org/exp_answer_19.shtml

Question: What are the dominant and recessive traits of SMA? How does someone get it?

Answer: Dominant and recessive traits are specific terms used to describe different genetic disorders and refer to the way that a genetic disease is passed on from one generation to the next or inherited.

How are traits inherited? Each cell in our body contains a nucleus that houses DNA on structures that we call chromosomes. Each chromosome comes in two copies, one copy was passed down from our Dad (from the sperm cell) and one copy is passed down from our Mom (from the egg cell). This means that we have two chromosomes 1, 2, 3 etc. Genes, which are contained on our chromosomes, code for all the material (proteins) in a cell that tells it what to do. In general, we have two normal copies of each gene (one inherited from each of our parents). This basic information will help me explain the difference between a dominant and a recessive trait. For some genes, we absolutely need the two copies to be functional. For other genes, we are OK even if only one copy is functional. Mutations are changes in DNA that renders a gene semi-functional or completely non-functional. A dominant trait is one where we need both genes to be functional. For example, Amyotrophic Lateral Sclerosis (ALS) is an autosomal dominant trait. Individuals with ALS have one normal ALS gene and one ALS gene that has a mutation. Thus, all individuals that have a mutation in the ALS gene will most likely, at some point in their lives, display the symptoms associated with ALS even though they have one normal gene.

Childhood-onset SMA is a recessive trait. SMA is caused by mutations in a gene that is called SMN (for survival motor neuron gene). We only need one normal SMN gene for our motor neurons to develop and function normally. Individuals with SMA have two mutant SMN genes because they inherited one mutant gene from each of their parents. Because their parents each had one normal and one mutant SMN gene (they were carriers), they did not have SMA because one copy of SMN is sufficient. Thus SMA is a recessive tait, the fact that we have a SMN mutation stays hidden (recessive) until we produce a child that inherited the SMN mutation from each of his/her biological parents. So SMA is an inherited disease that is passed on from parent to child through their SMN gene. Both parents have to be carriers, that is, have one normal and one mutant SMN gene. In a recessive trait, carriers are asymptomatic (do not have any SMA symptoms). About 1 in 50 individuals are SMA carriers. This means that (in terms of probabilities) in about 1 in 2,500 couples, both would be SMA carriers. Each time two carriers have a baby, there is a 25% chance that the baby inherited both SMN mutations and will have SMA, 50% chance that the baby will be a carrier, and 25% chance that the baby inherited both normal SMN genes. Thus, for a recessive trait, each time that two carriers produce a child, there is a 1 in 4 chance that the baby will have the genetic disease in question.

SMA stands from spinal muscular atrophy. Because SMN is very important for normal functioning of motor neuron cells in the spinal cord, when SMN is almost completely absent, spinal cord motor neuron cells die. When these cells die, they stop sending messages to the muscles they are responsible for. Motor neurons are the batteries of muscle and tell muscle when to move and when to rest. Because the muscle is no longer receiving these messages, it wastes away or atrophies. I hope that this answers your questions.

Louise R. Simard, Ph.D.
Associate Professor
Centre de Recherche de l'Hôpital Sainte-Justine
January 2005

11

I saw my doctor this morning. He reviewed the blood test results from last week and everything looks fine. The neurologist who did the EMG testing on me a few weeks back wrote a long report on me and he showed me some of the things she wrote. She believes that I have Spinal Muscular Atrophy Type III. Normally, it's supposed to affect people in their late teens and early twenties and she thinks I've had it for a long time without noticing it. It will be three weeks tomorrow since I gave a blood sample for the genetic test, and still no result. My doctor has dealt with a few cases of ALS (which share some muscle weakness symptoms), but he's only seen this in a textbook before.

I will be seeing a physiotherapist on Friday. Hopefully, there are some exercises I can do that will help.

Also, I finally figured out yesterday how to get to my classroom at VCC from the Pender St entrance without going up any stairs. It takes a long time, but it can be done. I fell down getting off the trolley bus when I went home last night. The bus driver had to help me get back up. I'm looking forward to seeing those new low-floor trolley buses go into service.

Jer is now all moved in. I think he has watched more TV at my place in the last few days than I have in the 6 months I've been living there.

10

I have a roommate. Jer is going to stay at my place for a few weeks. My parents have a futon mattress that they use to have guests over, and they dropped it off tonight. I still need to work out some logistics, like finding a place for Jer to park his car, but hopefully everything will work itself out.