September 2016

Since being in beautiful British Columbia last fall, Pamela and I have felt two earthquakes. Light tremors that made you sit/stand up and say "What was that!". Prior to that in Ontario, I can only recall feeling one tremor. But, feeling these tremors of the earth I am positive that it is what Luke, Yoda, et al were experiencing when they would exclaim that they could feel the force.

The Spinal Muscular Atrophy Community is currently abuzz with reactions to a tremor that has positively shaken all of us. A force that is very positive and worth noting. You see, this disease which medically had no options and which doctors' best advice (for Type 1) was to help make your little one comfortable and happy as there was not a medical option -- now has an option looming in the not too distant horizon. Medical hope. It isn't that there wasn't hope before - the human spirit is massive and there is always hope. However, little ones with SMA have had massive odds stacked against them. There was literally no medical cure. Indeed, when Emmett was diagnosed just over a year ago that is what his parents were told. But they were also told about an experimental drug trial that might be a possibility - and they latched on to it. I must tell you, I was not in favour of our little grandson being part of a medical experiment. The medical team at BC Childrens Hospital was so welcoming and caring that they convinced Alisha and Josh - who convinced the rest of us - that Emmett had to be in this trial. We are so happy that he is.

At the beginning there were so many questions about this blind study. Much heartache as we dealt with the effects of SMA on Emmett's tiny body. Much Joy as we saw a reversal of the decline. For those of you who have been following Emmett's Journey, you have seen the growth and development of Emmett's body as the messages from his brain started getting through to his muscles.

There were about 120 little ones, all no more than seven months of age, from around the world involved in this drug trial. One third of the participants got a placebo and not the drug. We do not know for certain if Emmett got the drug - because that was part of the blind study. The primary physicians did not know. We do know, however, that we all have seen the progress that Emmett has made throughout this past year. In this disease in which children do not improve, during this blind study we have been non-medical observers and noted that Emmett HAS improved. Our guess is that yes, he got it. We can tell you that Emmett is in an extension study (called SHINE) for patients involved in the previous study. There is no question, he is now getting Nusinersen.

Biogen and Ionis (two pharmaceutical companies) have completed the rolling submission of a New Drug Application to the U.S. Food and Drug Administration. Biogen is also planning to make submissions in other countries. This drug, Nusinersen, means that parents will no longer hear that there is no medical hope. Nusinersen is HOPE! That is the tremor that has been felt around the world. This drug cannot be made available fast enough. And this is where the entire SMA community has felt the tremor. Nusinersen means so much. The need to see this drug made available quickly is so necessary.

Link to CureSMA's Update on Nusinersen.

With a shout of hooray, Emmett celebrated his one and a half year birthday on September 9 - the same day his Auntie Katie was celebrating her birthday. There was no joint party, as Aunt Katie is now living in Australia. To celebrate this milestone Josh's cousin, Jocelyn (Jocelyn Isaak Photography), captured a number of amazing photographs for us to share. Emmett was also visiting BC Children's Hospital this past week - don't worry, nothing was wrong. It was just time for a series of tests and observations as this was the finish of the first part of the Ionis Pharmaceutical drug study. He is now moving into the second stage. Plus he got to visit with his crew. Emmett loves his crew (his medical team) and will gladly skip his naps so that he can visit with his hospital people. Another benefit of this trip to Vancouver was that his wheelchair was dropped off at the shop (bypassing wait time for a home visit) and they got it sorted out and set up better than ever. Last night Emmett went for a stroll in his power chair - it took maybe 30 minutes to go 400 metres. Circles. Backwards. Sideways. Stop to watch the cars. Stop to watch the clouds. Stop to just stare! Go backwards because mom wants him to go forwards. It was a typical toddler stroll - except Emmett was in his newly functioning power chair. 

While in Vancouver Emmett got to stay in a fancy hotel and he got a huge bed all to himself. He quite loved the luxury and, if he could have, would have been on the phone to room service. Emmett can be quite demanding, as I'm sure you can imagine. He always wants to be active and doing things, so keeps mom and dad pretty busy. Of course, even when demanding he's a great baby and his volume is much lower than most fussy 18 month olds. But he's still demanding!

At the hospital he was poked and prodded while they were checking out all aspects of his physical ability and responses. The usual blood tests which you never get used to. A nerve study which really sounds uncomfortable. And observation ... lots of observation.

They liked what they saw. While Emmett is not necessarily doing things that are evident for the casual observer, he is absolutely showing giant steps to all of us. Especially his medical people. For instance, Emmett's legs three months ago were barely moving unless he had the benefit of being in water. Today, Emmett moves his legs and if they are placed in a bent knee position he can hold them there for seconds, correction here, minutes at a time. Two or three months ago, they would instantly fall flat to the table. Compared to one year ago and the differences are almost beyond belief. In fact, they are beyond belief. One year ago his movement was so drastically limited that many of us doubted we would see this birthday milestone!

Yet here we are. This is a miracle. This drug trial from Ionis is a scientific wonder and miracle. That Emmett is one of 120 kids worldwide in this study is a miracle. While we would love to see it available to all children with SMA, the process of approving a drug and making it available to the public is painfully slow. Beating the odds of colds, flu, avoiding pneumonia, and all of the other normal childhood ailments that would be life-threatening for a little one whose respiratory system has been significantly compromised. Yes, it is a miracle! Continue to pray for Emmett. Continue to pray that this drug is made available to all children who need it.

Alisha, Josh, and Emmett celebrate the miracle of life each and every day. Emmett puts his hands up in the air and cheers! He started doing this at 'Charlie and Florence's Run to End SMA' and it continues. He loves to cheer. He loves to wave to people. If you see him, please wave. In fact, if you see any toddler in a wheelchair, then wave and say hi! Wave long and hard. And be patient - as it will likely take Emmett quite a few moments to get his body to respond and wave back. But he will wave back! And you will make his day! Alisha and Josh's too! 

Put Emmett in his Power Tiger chair and he's off. He has moved way beyond circles and he can manipulate the joystick to get exactly where he wants to be ... which may not be where the adult with him wants or expects! In fact, he even demonstrates street safety. Towards the end of the video he is on the driveway and heading towards the street - but he stops and turns back! Is it because the driveway is a bit bumpy and he doesn't like it? Or is it because he has heard 'stop' so many times as he has gotten to that point on the driveway? Either way, it is impressive.

Emmett has come so far and in this blog we have certainly focused upon that. Playing catch/soccer by using his chair to capture the ball! Wow. This is literally the first time he's played with the beach ball. Waving bye to his mommy and daddy as they head out - just so cute! Yes, Emmett has come so far. The reality is pretty evident, however, that Emmett faces huge struggles - even as a toddler. However, rather than focus upon these very obvious challenges we love highlighting the fantastic things that we see. Accentuating the positive!

But being positive is a challenge for Emmett today, because his Power Tiger chair is malfunctioning and there's no one to contact on Labour Day weekend.