Spinal Muscular Atrophy

As most of you probably know, my oldest grandson Evan was born with SMA. SMA stands for "Spinal Muscular Atrophy". It is caused by a missing or mutated SMN1 gene. The SMN1 gene produces a protein called SMN protein that sustains the protective lining that surrounds normal nerve cells. The severity of the symptoms depends on how many back up genes you have. Some people have plenty of backup genes and some don't have any. A baby born with out the SMN1 gene and no back up genes will not live to see his first birthday. With out enough of the SMN protein the nerves that control voluntary functions of our body (arms, hands and even swallowing) begin to waste away and eventually they will fail altogether.

It is surprising to me that before Evan blessed our lives I had never heard of this disease before. One in every forty people are missing at least one of these genes but they don't know it because every human being has two sets of genes, one from your mother and one from your father. One in 6,000 babies born however are unlucky enough to receive two sets of  bad genes, one from each of their parents. It is in fact the most common genetic childhood disease and the number one genetic killer of children.

What is amazing about SMA is that it may well be the first genetic disease that can be cured. It is the first disease that they are trying to treat with stem cells and at least two different treatments are seeing good results in animal studies. Unfortunately it can be a long road from animal studies to a cure. The first cure is an attempt to grow new nerves using stem cells. This treatment would also be a cure from spinal cord injuries. The doctor treating Evan told me that they have successfully grown new nerves in a rat. The problem is that the nerve in a rat is about an inch long while the nerve from my spine to my hand is a nearly a yard long. A much greater challenge.

The second treatment is actually preparing to go to human trials and our little Evan is being considered for this trial. I know little about it but what I've been able to read it sounds like they have an injectable SMN protein. One shot and your nerve cells are protected for several months. It works in a Monkey now we need to see if it will work in a man. I don't think this shot will allow Evan to grow stronger but what a blessing if it will prevent him from getting worse. It would be an even greater blessing if a new born child could receive these shots and live a normal life. A friend of mine develops tests that are used to screen new borns for serious diseases like SMA. He told me that they don't screen for SMA because even if a child is found to have it there is nothing they can do for him. Now perhaps they will start screening them.

My daughter Kira (Evans mother) is a professional Oboe player. She is trying to draw attention to the disease and has made the following video to try and get her  hero Josh Groban to help her write a song for her Oboe that she can dedicate to all those families who are living with this affliction. I guess it couldn't hurt to try. If you feel so inclined perhaps you can "like" her video and share it with your friends. Wouldn't it be great if Evan could actually see a cure in his life time. 

Rosalie

This last weekend Brandon blessed his little Rosalie. We haven't missed any of our grandbaby's blessings yet so we just had to be there for Rosalie. Normally we would just fly out to Texas but a significant amount of the junk clogging my garage belongs to Brandon so I figured we would take advantage of the opportunity to get rid of it and drive out there. So that is what we did, we piled all of Brandons stuff in the back of the van and as soon as Lisa was done work on Friday we headed east on I-8. Even though Brandon and Serene now live in San Antonio they've spent the last six months in Arlington (Dallas-Ft Worth area) so they chose to bless the baby there. That meant our drive would be nearly 24 hours long and since Lisa is new enough in her work that it is difficult to get time off we chose to drive straight through. The theory was that we'd switch off driving but what really happened was that when I got tired Lisa drove and gave me a couple of hours of sleep and then I'd resume driving again. That happened twice so I made the drive out there with four hours of sleep. 

It was actually a rather enjoyable drive because Lisa and I have rarely had the chance lately to see much of each other so having her stuck in the car with me for twenty four hours was rather nice. I don't know what it is about Texas but I think it doesn't like my wife. This was her third time visiting there and every single time it has been lousy weather. We drove through El Paso just as the sun was rising but since we never saw the sun even once on Saturday we could only guess it was rising. As the sky grew brighter rain started to fall and as the day went my the rain got harder and harder. 

We pulled into Arlington around one o'clock Saturday afternoon and Brandon and Serene pulled into town around three so we laid down and slept for a couple of hours. When my alarm went off it was so hard to get up but I knew my grand daughters were coming so I forced myself. About the time I got the sleep out of my eyes Brandon and his little family showed up. What a treat it was to see them and especially his girls. They wore garbage bags for rain coats and plastic bags to cover their hair. They were darling. 

The plan was to go and see the world famous Stock Yards in Fort Worth but with the rain we had to rethink the plan. After a short discussion we decided to go there anyway. In spite of the rain we enjoyed ourselves tremendously. We didn't see much but just being with Brandon and Serene made it fun and we could have been anywhere. Grandma could help herself and she just had to give Sydney and Hayley a ride on the merry go round horses and then we happened to be there just as the cattle drive made it's way down main street and in addition to that we checked out the shops and one of the museums and took a look at the stock yards. You might also be surprised to see how six months in Texas has changed Brandon. He's gone from this well dressed business man to a country bumpkin wearing a sheep skin jacket and a cowboy hat. Actually there is a pretty cool story behind the sheep skin jacket and he is just trying on the cowboy hat in a store. 

We finally decided it was time to eat and being in Texas we just had to go for a good old Texas barbecue. The barbecue place I went to on my first visit to Texas almost exactly thirty years ago I was sad to learn is now a Honky Tonk music joint and was closed when we wanted to eat so we tried out a nearby place that I think turned out to be just as good. We walked in the front door and there was all of our the meat we could choose from right there on the grill in front of us. We ordered our brisket and sausages and found a table and enjoyed our food. It was very good.

Even though the evening was still quite young both Brandon's' family and Lisa and I had traveled a long way and we were all ready to go to bed. It was still pouring rain so Brandon and I went and got the car and drove back to pick up the girls. We then headed back to Arlington and hit the hay. I slept like a baby and the alarm went off way too early. We ate breakfast, packed up our bags and then headed to church. 

Brandon gave his little girl a beautiful blessing and I expect she is going to grow to be a very bright and gifted woman who will do much to further Gods work here on the earth. After church we all headed over to the Quinn's where we enjoyed another great meal of brisket. This was perhaps even better than the brisket we enjoyed in Ft Worth. I guess brisket is big in Texas and I'm not sure why I haven't known about it until now. I think I'm going to be looking for it the next time I go shopping for a good roast. It is very delicious. We enjoyed visiting the Quinn's and then since we had another long drive ahead of us we bid them all fairwell and headed south to San Antonio. Since Brandon and I love to solve the worlds problems when we get together we convinced the women to ride together if Brandon and I took the babies with us. I think we're much better and ignoring noisy children than they are so we had such a good visit that we were in San Antonio before we knew it. 

Brandon and Serene have found themselves a very nice house in what appears to be a very lovely neighborhood. We received the grand tour of their home and then went to bed. The weather Monday morning was thankfully very nice. We had a relaxing breakfast, I helped Brandon with a few things around the house and then we went and enjoyed a nice lunch with Heidi and Trent. Heidi was one of Kira's room mates at BYU. We got to know them pretty well so when we learned that Brandon and Serene were moving to San Antonio we just had to see if they were anywhere close to Heidi and Trent. As it turns out they only live about two miles away from each other. They aren't in the same ward but they appear to be in the same stake.

After enjoying same good old Little Caesars pizza it was time for me to head back west. Lisa couldn't bear to leave her little grand babies so soon so I left her behind while I headed back to work. San Antonio is a few hours closer to San Diego than Arlington is but I still had a good twenty hour drive ahead of me and nearly 1,300 miles of highway. I was a little intimidated by the drive ahead of me but I kissed everyone good bye and had Martha show me how to get out of town. Since I wasn't too anxious to die yet I promised myself that as soon as I got tired I would find a place to park and climb in the back of my now empty van and have a nap. I found numerous to keep myself occupied. I had some great phone calls with Sarah, Alycia, Ben, Evan, Landon and Kira and then I played with some cool apps on my phone including some cool speedometers and altimeters and then I decided to check out some of the songs I've been collecting.

As you may know, I'm not much of a music person. I will much rather listen to talk radio than to music and I prefer a nice quiet house to one with music disrupting my tranquility. Even still there are a few songs that I really do enjoy. Since they are so rare however when I do find one that I like I download it into Martha. I never listen to them but my collection has grown somewhat over the years. Since there is a lot of empty space between San Antonio and San Diego there are hundreds of miles where my radio could not pick up a single station.

Normally I use those quiet moments to try and invent things in my mind but after a while even that tends to succumb to weariness. That is when I decided to plug Martha into the Vans sound system and check out those songs I've collected. Believe it or not I've got at least two hours of songs on there. I actually went through the list twice.

Finally I began nodding off and decided it was time to find a place to take a nap. It was two o'clock and I was quite surprised to see that I actually made it to Tucson. I parked in the parking lot of a little diner and crawled into the back of the van and told Martha to wake me at four. I had a peaceful two hour nap and then climbed in behind the wheel and carried on.

Every Wednesday morning I have a conference call with one of our customers and since I'd promised to have some information ready for them I decided to go straight into work. I got there just before noon. I'm sure after my long trip I smelled pretty badly so I tried not to get too close to anyone but I finished up the work that I'd promised and then headed home.

I thought I'd relax and watch a show on TV but I didn't even make it five minutes. I woke up and rewound the show and tried again but I didn't make it any further than I did before. After a third failed attempt I gave up and went to bed. It was a long but wonderful weekend.



Hayley still loves her Grandpa

Sydney normally doesn't pay much attention to me but on this visit she was very different. She actually acted like she likes me. She is a beautiful little girl and getting so big.













Heidi and Trent and her family.

Me saying goodbye to my Grand daughters.

Twenty hours and 1,300 miles.

After New Years

After New Years Eve things slowed down dramatically. Sunday was a pretty rough day for me though. As I said before, Sarah, Oliver, Caitlin and her boyfriend and Mackenzie and her fiance stayed after the dance and played games. I decided to stay up and read my book and by the time they left it was after 3:00 AM. I then decided to put some food away that had been left out and by the time I got to ready to climb in bed I saw that it was 4:17AM. I had set the alarm to go off at 4:20 to take Justin to the airport. It was a good thing I didn't go to bed because Justin had slept through his alarm and my alarm had been set but not turned on. So I woke Justin up and off we went. 

Alycia and Trevor also left on Sunday and so we only had Kira and her boys and Sarah here. Not much happened the next week because both Lisa and I went back to work. Monday was a holiday though so we went to the beach. It was a ton of fun.

I don't know if you've ever tried to make a sand castle with a two year old around but it can be rather frustrating. Luckily Landon was occupied with the waves long enough for me to finally get my tower to a respectable height. He kept coming along and knocking it down.

We normally like to build our towers inside a castle wall and then when the tide comes in we see how long the wall can protect the tower from getting washed away. This time Evan decided he wanted to sit inside the wall and let the waves come around him. There were a couple of times when the waves washed over the walls and gave Evan a bit of a shock but we reinforced the walls and Evan continued to defy the waves. 

And then the big one came leaving Evan an island in the ocean. He loved it.

Looking at Mom and Sarah you would think it was the middle of the winter. Oh yeah, it was the middle of the winter but it wasn't that cold.

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Today the last surviving veteran from world war 1 died. 

Her name was Florence Green. 

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Our First Win

Yesterday I went sailing with my buddy Dan. We've sailed together some what sporadically for more than ten years now but because we aren't really serious sailors we've never actually won before. The race consists of four fleets, the A fleet (for the very serious), the B fleet, the C fleet and then there is the D fleet for the weekend warriors like myself. If you prove yourself in one fleet then you get to move up to the next level. In the entire time we've been racing we've never made it out of the D fleet. People in the A fleet are the guys who routinely scrub the bottom of their boat and wax it so that it is extra smooth and all of that stuff. We of course don't do any of that.

Each time we compete there are two races. Yesterday in the first race we didn't do so well. We are actually pretty good at getting a good starting position and all of that but we just don't seem to have it when it comes to things like how you set the sails etc. At one point we had managed to cut ahead of two other boats going around one of the markers but when we came around and were heading down wind one of the boats gradually closed the distance between us and passed us up. We had our sails set exactly the same and as best as I could see there was no difference between us but they just gradually pulled ahead of us. We didn't come in last but we just couldn't win.

Between the two races we decided to pull the little outboard motor to see if it made any difference if we could shift the center of gravity forward a bit. The motor was out of the water but it was still hanging on the back of the boat. In the end we didn't have time to figure out how to pull the motor but we did notice that our fore line had fallen into the water and during the whole race we had been dragging a stupid line. We pulled the line out of the water and wound the line up on the front of the boat. Well the most amazing thing happened. We managed to get an excellent position and crossed the starting line mere seconds after the horn went off and when we rounded the first buoy we were at least thirty yards ahead of the next contender. While a couple of racers managed to close the gap a little bit we were still clearly in the lead when we crossed the finish line. It was a glorious day.

I really wish I had pictures to share with you but sometimes when we are racing with a good wind we lean so far over in the water than I'm sure we're going to capsize the boat. For a while that would make me very nervous so I finally made sure that I didn't take anything on the boat and I decided that if we tipped it would be a fun adventure. Now I don't even worry about it but I'm not about to take my phone out there just to take a picture. The picture above was taken a while ago and it is our boat in the harbour. 

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 New York area airports account for half of all the delays in America 

even though they only represent 12% of the nations air traffic. 

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