This is Emmett's fifth anniversary of the start of Spinraza, which in 2015 was known as SMNrx. This name changed to Nusinersin and now is best known as Spinraza. Emmett had the first of many lumbar punctures on October 7, 2015. This fifth anniversary post got postponed as BC Children's hospital had to reschedule the October 2020 until November. This LP, #19, will take place on Monday, November 2, 2020.
EDIT: Everything went well today at B.C. Children's Hospital. Emmett will be home soon.
There was no treatment available when Emmett was diagnosed with Spinal Muscular Atrophy, Type 1 five years ago. Emmett, however, was just the right age and weight in the fall of 2015 to be accepted into a study for a pharmaceutical drug trial. It was a drug that had a lot of promise but with a drug trial there are so many questions and very few answers. This trial would involve 124 similar aged babies from around the world. All with one common feature - they had SMA Type 1. SMA is the number genetic cause of death for infants - the trial for Spinraza was brought to an early close as those on the drug were improving and those receiving the placebo were failing - they were then given the drug. It was approved by the FDA and Health Canada afterward.
To understand how much Emmett has progressed, you need to realize that Emmett had lost all movement of his legs by 3 months of age. By 5-6 months of age he'd lost the majority of movement in his arms. He could no longer grasp things with his hands and fingers. He'd never been able to hold his head up. Obviously, he could not sit up on his own. Travelling had to switch from a car seat to a car bed - as the seated position caused too many issues with choking on saliva. All nutrients and liquids were by G-Tube (gastronomy tube) as swallow studies revealed that he wasn't swallowing properly. There were a trip or two to the emergency room due to choking/stopped breathing. October 2015 Emmett was accepted into the trial for this drug - it was a blind study in which 2/3 of the children would be administered the drug while 1/3 would get a placebo. Apart from the fact that even with a baby it's difficult to fake a lumbar puncture, small signs of improvement told us Emmett was getting the drug. You see, with SMA an individual may level off in their decline but there was no medical record of any individual with this genetic disease showing improvement. Emmett was improving.
Fast forward five years to 2020. There are now multiple treatments available for SMA. The first is this drug Spinraza, the treatment that Emmett is on, which can be administered to SMA patients at any age. After the initial dosing, it is administered every 4 months by lumbar puncture. Babies who receive this treatment immediately (days old) are walking, eating, and demonstrating incredible movement. There is the gene therapy treatment that has been getting a lot of press lately. It is the $2 million US dollar one time gene therapy treatment called Zolgensma that is for children under 2. Then there is the oral treatment that is taken daily called Risdiplam (Evrysdi). Of these three which are all approved in the USA for use, only Spinraza is approved in Canada. And in Canada provinces still limit, due to financial implications, who may receive Spinraza.
Emmett can hold his head up. He can wheel himself around on smooth, flat surfaces with his manual wheelchair. He can hold a pencil or marker and print his name. When placed in a sitting position, he can maintain it for a considerable length of time. He loves telling stories and playing jokes on people. He loves to have ice cream - he takes very tiny spoonfuls and can feed himself. However, his suction machine is always within reach as choking is still a significant concern. Emmett can usually tell us when he requires suction. While infrequent, there are moments when intense suctioning is required and everyone's heart beats hundreds of times a minute. Once cleared, Emmett returns to play instantly. He's fine, even if we may need a few minutes to recuperate.
This is the fifth anniversary of Emmett being on the drug Spinraza. To celebrate he is getting another lumbar puncture on Monday. More of this drug which has changed his life. More stories of his joy of living to share.
Within our family social bubble, we had a Thanksgiving celebration. Turkey, dressing, and all of the rest for our meal. Fantastic cream puffs that Emmett helped make for dessert. It was memorable. But what was outstanding was our games event that took place between the fabulous main course (that Josh engineered) and the Emmett touched cream puffs for dessert. That is when Josh and Emmett introduced us to Carcassonne. Emmett had played this game once already. Just once. But when Josh started explaining the game by showing a card to us newcomers, Emmett interjected and told us what the card meant and how you played it. So from that point Josh just showed the card and Emmett provided the game play rules. It was fantastic. We are thankful, this thanksgiving season, for a little boy who is so aware of his surroundings, takes in everything, and simply loves life!
In the September pics of the first day of Kindergarten Emmett still had one front tooth. This Thanksgiving Emmett has no front teeth and, while the adult teeth are hiding in his gums, it's hard to say when they'll actually make their appearance. Kindergarten has been a lot of fun and Emmett absolutely loves school. As mentioned in the last post, Emmett's kindergarten is a distance education program through Oak and Orca, which provides guidance and support to enhance the education that parents provide. It is going quite well. We have had excursions to the Great Blue Heron Reserve and have been to an apple orchard and a pumpkin patch. The 'we' is intentional, as school is truly a family affair plus, due to the challenging pandemic situation and the lack of social involvement in an actual school setting, everyone in the family is involved. Even if that involvement is story telling via video conferencing. With school we are pleased to say that Emmett is doing very well with his sight words and basic math facts. He is number one in his class - although we're not keeping track. Too often people make assumptions about individuals who are in wheelchairs or whose speech may not be perfect; Emmett is a very bright little boy. Don't believe us - when the pandemic is over come and play a game of Carcassonne with him! Then you'll see.
As we draw closer to the end of the month there are two things that you should realize. The first is that you will see the return of Woody the Cowboy. 2017 was the first year for Emmett as Woody, then 2018. Again in 2019 Emmett returned as Woody the Cowboy. And now for 2020 Emmett has once again decreed that he will be Woody the Cowboy. The costume will be tight as Emmett has outgrown all of the Woody apparel that he has, but it is going to happen. His sidekick, Buzz, will likely be making an appearance also. You will also see an abundance of pumpkins at the Willms' house. Hippo pumpkins. And the bar has been raised as this year it was more than one hippo pumpkin. My niece, Carolyn, pushed the envelope further by sending a pic of a 3D hippo face carved into a pumpkin. Challenge accepted. But then Emmett announced to his mom and dad that he and I would be carving yet another hippo pumpkin. Another search of the internet and we discovered the Team Fiona pumpkin carving stencil. While the first two were freehand, this time the stencil is going to be put to good use. By the way, in the pic at the top Emmett picked the two pumpkins on the table as the ones that he wanted to take home! LOL!
The second thing that we want you to realize is that Emmett will be receiving his 19th lumbar puncture and the corresponding injection of Spinraza just
before after Halloween. There was a change in plans at the hospital and the procedure has been rescheduled to November 2. This will be a full on visit with a wide range of blood work, physio tests, and the nerve tests. All of which make for a miserable day for a little boy. He will received a general anesthetic for the actual lumbar puncture, but he's very alert for everything else. While he absolutely loves his hospital people, he does not look forward to this visit. He knows.
Emmett is working hard on his sight words. Alisha and Emmett came up with this awesome bean bag game to enhance word recognition. Then Emmett and I made the absolutely best ice cream. We will make some for you too! And then Emmett goes for a walk in his Kids' Walk.
School is so much fun. This happened earlier in October when it was still short sleeve weather. We launched pop bottle rockets. We attracted a lot of neighbourhood kids. We tried our best to maintain social distancing ... but Rockets!