Daily/Weekly Thoughts
Daily/Weekly Thoughts

August 2019

August: Spinal Muscular Awareness Month

Just recently one of Emmett's parents noticed that Emmett was sleeping on his back, a position that they usually avoid as his drool cannot drain out by gravity. Wondering why the other had left him like this, they went in and rearranged him. You see, while Emmett has gained a lot of movement that he demonstrates in his daily activities, in his sleep or semi-sleep all you observe is a shape that doesn't move. Or you hear "Other side. OTHER SIDE. OTHER SIDE!", which can get quite loud as Emmett's voice and lung power are gaining strength. Every couple of hours he needs to be moved to ensure that he has a change of position. Well, back to that slight frustration about positioning which quickly changed to wonder as they watched Emmett, in his sleep, roll himself back onto his back. In his sleep. Simply Wow! Way back in the blog we described the nervous system as being like the 401 highway - the largest highway in the world - with massive traffic travelling on it while SMA was a blockage that, with Type 1, shut the highway right down. In fact, SMA Type 1 would be like a giant sinkhole that swallowed up the entire highway and all alternate routes. Traffic literally stops moving. And until 2016 that is where the disease was left - traffic possibly at a standstill. Then came Spinraza, a drug that started traffic moving again. It wasn't as good but if you've ever been stuck in a traffic jam for hours at a time then you know how good it is to see movement. And slowly there is more and more movement.

Start playing and several hours later
you'll still be there. Playing. 

It was in the August of 2015 that Emmett was diagnosed with Spinal Muscular Atrophy, Type 1. Ironically, August is traditionally the month in which CureSMA Canada and CureSMA (USA) focus upon raising awareness of this genetic disease. It is recognized as the number one genetic disease that takes the lives of children under the age of two. This is a disease that is sometimes (and mistakenly) described as being a 'Lou Gehrig's disease' (or Amyotrophic Lateral Sclerosis) for kids. Neither SMA nor ALS are contagious. There are obvious similarities - in both diseases the brain is unable to communicate with the muscles which causes the individual to lose the ability to walk, talk, eat, swallow and breathe. In the movie "The Theory of Everything" you see the dramatic changes that ALS imposed on the young and healthy Stephen Hawking as a university student. And the incredible health and mobility challenges that affected his adult life.  There is no cure for ALS and 80% with this diagnosis die within five years. There is only limited treatment for ALS. This is where the similarities end. There is no specific cause of ALS; it can strike anyone although most often between ages 40 and 60. SMA has a definite genetic cause. SMA primarily affects children. There was no approved treatment for SMA until December 2016 when the US FDA approved it. Canada approved it in June 2017 but access is still limited with some provinces providing greater access than others.

We do not have a movie depicting Emmetts struggle although you can follow a significant history though this blog which began in 2015 shortly after his diagnosis. The cause of SMA is almost 100% when two carriers have a child - they have a 1 in 4 chance their child having SMA.  While there was no medically approved treatment available when Emmett diagnosed, he was quickly involved in a world wide study of 124 babies with the genetic disease Spinal Muscular Atrophy,

Try to say no! Just try.

Type 1. This drug, trademark name Spinraza and study name Nusinersen is an antisense oligonucleotide (that's for the scientific types reading this). He was one of four precious little ones with SMA Type 1 involved in this Canadian study at BC Children's Hospital. He is also the only one of the four who survived. At six and seven months of age Emmett had lost almost all ability to move. Prior to this drug, Emmett's loss of ability may have slowed or stopped, but individuals with SMA did not improve. Period.  Emmett could no longer travel in a normal car seat as the position would cause him to choke on his own saliva. He had to use a specially approved car bed for transportation; and in most activities he would need to be prone. Emmett was never able to sit up on his own nor could he sit up without being held up. He was never able to support his own head. By three months of age he had lost the ability to move his legs. At six months of age he had lost almost all arm movement. At nine months of age he was on a bi-pap machine to assist his breathing - this equipment pushes air into his lungs to expand them and then has a lower pressure that allows him to exhale (different from a cpap machine which is one constant pressure and for Emmett would make him work too hard to exhale).

This blog has said many times before that we knew Emmett was not on the placebo because we started seeing signs of improvement almost immediately. To say that this experimental drug stopped the regression of this disease is an understatement - it reversed it. Obviously, it is a long process and we do not know where this will lead. We do know that infants who have received this drug pre-symptomatically appear to be developing with few symptoms of SMA. Another new treatment is the apparently one time injection of Zolgensma (onasemnogene abeparvovec-xioi for those

Emmett may be fixated on Toy Story.
But he's not going to be Buzz Lightyear
for Hallowe'en. He's already decided that
he will be Woody the Cowboy. For the 
third year. Even though he's outgrown 
his costume. He still has two hats ... and
no, Grandpa cannot borrow one!

who need to know) that has already been approved in the USA - this treatment appears to offer even greater potential. However, back to Emmett and Spinraza. It has not been an easy haul for Emmett and his family. That may be partially the fault of the blog as we tend to highlight the forward steps that Emmett makes, but there have been health scares and hospital stays. Fortunately, the past year and a half have been so much better but a simple cold can still cause the entire household to go into a crisis prevention mode. Emmett's lungs are stronger and so is his ability to clear his own saliva. Emmett is in the beginning stages of learning how to swallow again. He has been tube fed for four years so this is going to be a slow process about which we are all cautiously optimistic. 

Emmett just spent several days attending Kid's Camp at his church. He has been getting out more and interacting with other kids, including Sunday school almost every Sunday. It is easier in the summer as flu and cold season is not surrounding us. It doesn't mean that caution is tossed to the wind; but it does mean that Emmett can explore and interact. Playing Duck, Duck, Goose - Emmett would roll around the circle calling duck or goose while I tapped the others on their head. When he called Goose, Emmett needed the kids to circle the group twice to his once in order to make it close to even. It worked! Emmett had a lot of fun playing this and games like "Red Light/Green Light or What Time is it Mr./Mrs. Wolf". Obviously the other kids would look while Emmett was being suctioned or his feeding tube was connected/flushed/disconnected. Adults look too! Shortly Emmett will be heading off to SMA camp with his mom and dad. There they will have several days of interacting with other families that are also dealing with SMA. And Emmett, who was at this family camp for two days last year, is already looking forward to spending time with other kids in wheelchairs. Just like him. He is not, however, looking forward to the mosquito's!

Petting bunnies and other animals at a 
petting farm! So much fun.

Emmett loves going fast! In his van down a hill. Going fast and high on his swing! Down hills in his power chair. Down hills on his pedal bike especially when Grandpa lets go so that he is on his own and everyone else is freaking out that this little boy is going to crash but fortunately he didn't because his grandpa grabbed the rear controls in time to avert such a catastrophe which was never going to happen because everything was under control all along! Phew! But not just going fast physically, but thinking fast. In Sunday School we were watching a video with a group of kids ages 4 to 10 and, during one section with humour geared more for the adults observing, Emmett giggled. There wasn't a sound from anyone else. His mom and dad having a conversation spelling words to avoid detection only to have Emmett join in the conversation with a response that indicated he was fully aware of what was being said. He rolls his eyes like a teenager - especially when grandpa suggests something that he considers unworthy of a response.

Back to our comparison to the super highway; Spinraza is slowly but surely allowing this little boy to regain strength and mobility that he has lost. We are realistic and understand that Emmett is always going to need support. We are also not giving up on miracles! Every roll and turn and lift is a miracle. Did we tell you how Emmett lifted his hand and held it out the van window! The look on his face was incredible. Emmett will finally be getting a kid's walker/gait trainer. He just got a lift in his bedroom that will make it easier on mom and dad to move Emmett about. His

Sunflowers are so colourful!

second hand wheelchair has been very reliable this summer with the 'MacGyver' fixes but plans are underway for a new model. Bathroom renovations to be more accessible are still in the planning phase. And Wendell the cat got sick and had to go to the vet. He's back home now and recuperating. All of this is just a fact of life when living with Spinal Muscular Atrophy. (Wendell and Emmett are best friends, so Wendell the cat being sick was pretty challenging!) Emmett doesn't go anywhere without his suction machine. He doesn't go anywhere far without his bi-pap. Sneeze and Emmett will tell you to sanitize. Even with these new, exotic and expensive drugs that are a miracle, Spinal Muscular Atrophy is a terribly challenging disease. August is Spinal Muscular Atrophy awareness month. Want to know more, just ask. 

curesma.ca

After watching the bike video, now go back with us to 2016 and watch a video clip from that era.

Pushing his friends on his swing.
Don't worry, mom & dad are near!

 

Comments

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Guest Comment 1 week ago
Site Visitor
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As challenging as this disease may be, Emmett is a lucky young man to be surrounded by such loving parents and grandparents. You have all had a wonderful impact on Emmett's attitude toward life and his willingness to take risks to learn new skills. Bravo to the whole family!!
Guest Comment 1 week ago
Site Visitor
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Wonderful improvement!! xo Great Uncle J