October 2015

Four generations on one couch! Grandpa Roger, Great-Grandpa Rudie, Emmett, and Josh. Family times are so important and, while much of Josh's family is on the west coast (everyone pictured here is), he also has family that is quite distant.

Here are Great Grandpa and Great Grandma Willms with Emmett and with his cousin, Joy, who is from Atlanta.

A huge thanks to Rhonda and Roger for hosting this evening in their beautiful log home, nestled in the forest on the side of the mountains! Joy's parents are Alicia and Josh (left) to go with Emmett's parents Alisha and Josh! 

Kierstin and Eric (left) and Ben (right) rounded out the 'cousins' who were present this evening for a great "week after the Canadian Thanksgiving' Thanksgiving meal!

Joy thought that Emmett's shoes were quite appealing!

Emmett is involved in an experimental procedure that is hoped to have a positive impact upon the genetic disease, Spinal Muscular Atrophy Type 1, that Emmett has. This experiment, or trial, is in it's third phase. While that is still early it is also positive that it has gotten this far - that alone means it has had some positive effect. Otherwise, the drug company would have stopped pursuing it. I hope that after reading this, if you haven't already signed the petition that I refer to at the end of the blog post that you will consider doing so. You should also know that the facts from this page come from the FAST Movement and CureSMA - hopefully my presentation of their information is accurate.

This drug is the only known medical intervention available in Canada for babies like Emmett who have SMA Type 1. And it is only available as a clinical test, for babies meeting specific criteria. ISIS Pharmaceuticals has developed this drug, known as SMNrx. There are some other clinical tests taking place around the world - but at this time none of them offer the potential promise that SMNrx does.

We love posting pictures of Emmett, but they can be deceiving. You see an adorable baby who looks, quite honestly, incredibly beautiful (perhaps a smidge of grandparent pride here!) and amazingly healthy. You don't see that he has virtually no movement of his legs unless he is in water. If he drops his soother and it's right in front of him, he cannot move hands to pick it up and replace it. He can, however, push it back into his mouth when his arms/hands are in the right position. He has changed from a car seat to a specially designed car bed - because a reclining/sitting position seems to allow a pooling of saliva which stops him from breathing. That has now happened several times - including while sitting in a high chair. Lying in the car bed seems to avoid that. Alisha and Josh do everything that they can to make Emmett's life normal - but nothing about his life is normal! His bedside table boasts a feeding machine, an oximeter to alert parents if breathing stops/oxygen levels drop, and a suction machine to clear his air way. Then bedtime reading books, stuffed toys, a spare soother, and a nearby rocking chair.

The survival motor neuron gene 1 (SMN1) produces a protein necessary for the nerves controlling our muscles to survive. Without this protein, the nerves die. When they die, the message from Emmett's brain to his legs, arms, neck muscles etc. simply gets lost, the muscles obviously don't respond, and they simply waste away. Emmett has a G Tube for feeding - because the muscles controlling his ability to swallow are not responding as they should. The muscles around his lungs don't get the proper message - which is why he's a stomach breather! Which is why we are heart broken, as are all parents and familes of babies with SMA Type 1. 

That is why ISIS Pharmaceuticals' drug, SMNrx, is a bright light in an otherwise very challenging space. That is why Josh and Alisha have involved Emmett in this clinical trial. That is why they were relieved when he met all of the criteria required to participate in this study. This treatment has proven to be life changing. Noted improvement in muscular activity in test participants. Increased protein development and increased motor neurons. It is like a miracle. It is why the 7 lumbar punctures are something that any parent with a child with this diagnosis is likely going to accept. There's hope!

There is a push in the United States to have ISIS Pharmaceuticals to apply to the FDA for Accelerated Access of ISIS-SMNrx. This would allow for earlier treatment - with SMA 1 and 2 that could be life extending. With SMA 3 and 4 it could mean lifestyle changing. This push for acceptance is being led by 'TheFastMovement.org' and I hope you read about it - I've taken some content directly from them - and then that you would sign their online petition. Obviously, our hope is that ISIS Pharmaceuticals also approaches the Canadian government for accelerated access. Babies with SMA Type 1 have such limited time. We need to give these babies and their parents more time!

In less time than it has taken you to read this blog post, you can sign this petition. You can put your name forward as supporting Accelerated Access for everyone with SMA - and especially babies like Emmett who have Type 1. 

Emmett has been accepted into the study - that's certainly better than not being able to participate. However, one third of the children in this blind study get a placebo. They go through a sham process. Parents know that this is a risk that they have to take! A risk to hopefully help their baby have a better life. Alisha and Josh - along with their families and friends - are praying for Emmett to have that better life. Are you going to sign your name to this petition? I did.

Click here to go directly to the Petition for Accelerated Access to SMNrx.

Find out more about the FAST Movement - Families for Acceleration of SMA Treatments.

Emmett is my blog writing muse! As Alisha mentioned, Pam and I were in Ontario and just last night we got back to Emmett's Place - also known as Abbotsford, British Columbia. This also means that I have easier access to photos and better equipment. While on the road my posts

came from my iPhone or iPad and, while they are amazing hardware, they weren't the easiest devices to write a blog entry on. Plus we were often without internet access so it was impossible to provide updates. Hope that we can remedy that today with a lot of Emmett pics!

Let's start off with our little angel sleeping. He had a great night and now has had a couple of great morning naps. Plus he's been filling up his diaper every couple of hours and doing so when his mom, dad, and grandma are not close by! In the summer I told everyone that I wasn't doing diaper duty and I didn't. But that has long since passed and I'm back on diaper duty! Sigh!

Last weekend Emmett had already bounced back from his lumbar puncture - which was great because he was all set to attend a BC Lions game that he attended courtesy of the BC Lions - thanks Bryton and Kristyn. A major shout out to Marco Iannuzzi for taking the time before the game to stop and talk with Alisha, Josh, and Emmett. He also spent time with other fans who were there! Talk about great team spirit! Emmett was decked out in his BC Lions outfit and, if necessary, would have joined the game. (Honestly, as Rhonda pointed out, he was more fascinated by the lights than the game. He also loved the big screen!

Of course, Emmett was also thrilled with Leo the Lion. There's nothing better than a life sized stuffed toy that moves and reacts! BC Lions - thank you for making everyone's day! We wish you all the best this season!

Grandma also got to spend some quality time with Emmett. A big thank you to Hazel who spent hours making this awesome baby blanket! Everything really is awesome! 

Especially when everyone is having a nap! Emmett because he's a baby and grandma because she's still on Eastern Standard Time!

From the left we have Emmett enjoying a great hotel room the night before his procedure. Then Emmett getting a massage. And on the right Emmett has been celebrating Thanksgiving and is so grateful for everything. I know, Emmett cannot talk yet, but you can see his thankfulness in his eyes and smiles!

On Thursday, less than 24 hours since the trial injection, Emmett is smiling. Alisha said he was fussy in the morning but that he broke out the smiles when Dr. Selby came to check on him. He really is a superstar when it comes to wrapping the doctors and nurses around his baby finger.