Daily/Weekly Thoughts

Rare Disease Day 2021

February 28, 2021 is Rare Disease Day.

If you know this, then you are one of a minority. Six years ago I had no idea that there was a day that sought to focus the attention of the world on rare diseases.  There may be as many as 7 000 rare diseases that affect millions of people around the globe. These rare diseases may not be well known, but their impact is significant.

The most common characteristic of a rare disease is the small number of people that it affects. For example, in Europe a disease is considered rare when it affects fewer than 1 in 2 000 people. That's 1 000 people in a city of 2 000 000. That is a small group, but if you are one of those people then you know that it is a significant number. Rare diseases are often mis-diagnosed, or not diagnosed at all, by medical professionals. These rare diseases often have limited treatment, if any, and this leads to long term challenges for the health and care of individuals with rare diseases. And their families too.

This is a castle, complete with stables,  that
Emmett built.

Emmett has Spinal Muscular Atrophy, Type 1. It is a rare disease. In the first half of 2015 our families were not aware of it and had never heard of it before. Now we have. Emmett arrived in the world on March 9, 2015 but his diagnosis was not made until that August. There was no treatment available in 2015 BUT there was a drug trial and Emmett met all of the requirements for admission. This drug, now called Spinraza, worked. Emmett's disease does not allow the messages from his brain to be transmitted effectively to his muscles. So basic things like walking, holding things, supporting his own head, sitting up, swallowing, breathing were at risk. When he was seven months old he could not roll over, move his legs, hold up his head, sit up, and was losing the ability to move his arms. He was having trouble swallowing. He had to be lying down as a sitting position would cause him to choke. Sometimes when I say or write this, people think that I'm exaggerating. If I am exaggerating, it is probably reverse exaggeration. I am understating the challenges that Emmett and others with SMA Type 1 face. That is, this disease is probably worse than what you're reading in this blog.

The wheelchair got stuck shortly after this pic.
Emmett's mom and grandma said, "Frank, we
told you this wasn't a good idea!" but Emmett
and I had fun! Well, until we got stuck!

The benefits of Spinraza are not something that are understated. The trial was a success and the drug was approved in Canada, the United States, and many other countries. Two other newer drugs have been approved by the FDA in the United States and hopefully we will see them available in Canada also. But don't relax and think that all is now a rose garden. The physical improvements that Emmett has demonstrated over the past five years are fantastic; from the drug and the fact that he works incredibly hard for all of his gains. His mom and dad do daily physio sessions with him; he has regular speech therapy sessions to work on tongue control, and he has occupational therapy sessions to enhance his large and small motor skills (by the way, during this pandemic season all of these sessions are currently online). For example, he can now hold himself (while wearing his back brace) in a sitting position with no back or side support for almost forever. While lying on an exercise mat he can roll from his left side to his right side - and if it wasn't that he intensely dislikes being on his tummy, he could probably roll right onto his tummy. He can swallow tiny amounts of liquid and pureed food; he absolutely loves tasting every kind of food and his eyes absolutely light up when someone mentions ice cream. Emmett loves painting and drawing but we have had to find the right tools; he cannot use regular children's wax crayons as they require too much pressure to leave marks on paper.

We made a temporary soccer bumper for the 
power chair. But it doesn't work when the ball
is caught in the bushes!

What do you need to do for rare disease day? The starting point is to be more aware. That you're reading Emmett's blog is a sign that you are becoming more aware. Thank you. You can also check this link about rare disease day.

On March 3, 2021 Emmett will be at BC Children's Hospital for his 20th Lumbar Puncture. On March 9, 2021 he will be celebrating his sixth birthday.

February 28, 2021 is Rare Disease Day.






Emmett is already making plans for camping trips.
We checked out the RV and made sure that it was okay.

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