August is SMA Awareness Month
Spinal Muscular Atrophy - did you know that 1 in 40 people is a carrier of this rare disease. Did you know it was that common!
Feel free to share Emmett's Journey with others so that others know about this rare but all too common disease.
Cups. Plates. Utensils. Plastic food. All of these things are fascinating to Emmett. He loves to join us at the table and when we pray for our meal he closes his eyes (sort of, cause he likes watching everyone else) and reaches out his hands to hold hands with everyone else around the table. And then he starts to play with his toy setup. Right now he is really into cups. Of any size. Of course, Emmett doesn't get any food or liquid by mouth. It is all by G-Tube directly into his stomach so all of this food is just pretend. Taking sips from his cup of coffee - just pretend. Give him real food to play with - and his face contorts and he will push it aside with disgust. He doesn't even want a taste. His hands must get cleaned off if the food was slimy feeling. Give him a plastic pizza, hot dog, or fries and then he'll eat. Just don't give him the real stuff!
Emmett wants you to know that he loves books. He wants you to know that big trucks go 'Honk' and little trucks go 'Beep'. He wants you to know that cows go 'Moo', horses go 'Neigh', cats go 'meow', geese 'honk', ducks 'quack', pigs 'grunt', and hippos 'hiccup'. You don't have to agree with him, but that is what they do. On Sunday his daddy was telling the story of the prodigal son - who had a job feeding pigs - and managed to keep a straight face when Emmett started grunting like a pig. Emmett was sitting right in the front of the church! Emmett wants you to know that he pays attention to everything.
Camping at Grandma and Grandpa Willms house was so much fun. Out in the country and able to enjoy the countryside. Wild deer visiting and walking right past them! Getting to go to the lake and see ducks and geese - which started the infamous phrase ' Duck. Duck. Goose!' Getting lots of time with daddy as he was on holidays. Lots of trees and lots of rocks (Emmett is still fascinated by rocks!) to view and play with. It was an incredibly relaxing time for all three of them. And camping at the grandparents gave a sense of security that was necessary - you simply double think everything that you used to do when you have a medically fragile little one.
We all want you to know that August is SMA awareness month. The Willms and Ewald families first learned about Spinal Muscular Atrophy two years ago in August. Emmett was diagnosed with SMA Type 1 in August of 2015. None of us had ever heard of this disease. It's genetic and our families have been silent carriers - there's no history in either family of this disease. When two carriers have a child, there is a 1 in 4 chance that the child will have SMA. 2 in 4 chance that they will be a carrier. 1 in 4 chance that they will not carry any aspect of this disease. Odds like this are overwhelming and terrifying. Fortunately for Emmett, since September 2015 he has been part of a trial study which has led to the approval of the only drug that has been proven to improve neuron pathways in the spinal column thereby allowing the brain to communicate with the muscles. It is not a cure, but it is certainly giant steps in the right direction. This is the first treatment available. Up to now it has been physio, hope, and prayer. These still play a huge part in the care plan of any SMA youngster.
SMA Type 1 is the most significant and identified before 6 months of age. Physical challenges include muscle weakness and trouble breathing, swallowing, and coughing. SMA Type 1 is the number 1 genetic cause of death of infants. This is the diagnosis Emmett received and, with the help of the drug Spinraza, that he is defying!
SMA Type 2 is usually diagnosed after 6 months but before 2 years of age. Individuals with Type 2 can usually sit up but unable to stand or walk.
SMA Type 3 is usually diagnosed after 18 months and before age three. It may not be diagnosed until the teenage years. Individuals with Type 3 are initially able to walk but have increasingly limited mobility as they grow.
SMA Type 4 is rare (actually, all who are afflicted with spinal muscular atrophy are considered to have a rare disease) and it affects adults. Usually the symptoms are minor motor impairment.
Emmett wants you to know that he loves to interact with others. It is summer right now so that is so much easier because the risk of colds and flu are simply not as common. His family want you to know that disinfectant is everywhere around Emmett to assist them in reducing the risk of catching a cold. You see, if a child has trouble breathing and coughing and swallowing then a simple cold could be devastating. The flu - overwhelming. Even so, Emmett loves interaction. And Emmett wants you to know that he really doesn't like wearing his bi-pap breathing machine! This is a must to give his lungs support and ensure his oxygen levels are great while sleeping. If he is extra tired or congested, he wears it during his waking hours too.
Talking. Emmett wants to talk and he has a pretty good vocabulary already - but you need to be used to listening to him. SMA also impacts his ability to form words. It affects the volume of his voice. But that doesn't stop Emmett from communicating. All along he has used his eyes, his expressions, and his ability to point. Sound has played a big part and more and more words are coming out. Just recently he has learned how to make a 'TH' sound and his favourite word is 'THIS'. Unfortunately, those around him do not always recognize what is the 'this' that Emmett wants. After all, there are a lot of this's in his house, let alone in the world. He has also been saying his own name! You see, while Emmett's body is physically very limited his mind and aptitude is incredibly active and sharp. I think that he is brilliant.
Activity is incredibly important. Emmett undergoes a daily physio routine with his mom and his dad. Stretches. Movement. Water therapy in the bathtub. Emmett needs to work his muscles. He is so proud when he reaches out and grasps something. He knows that when he pulls his knees up to his chest that he is doing something monumental. That when he stretches his arms up into the air that it is a huge accomplishment. You see, I know that when Emmett was only 6 months old that he knew his arms wouldn't do what they used to. That he couldn't hit his balloons the way that he did just a few weeks earlier. And now he can and he knows that this is something to celebrate. Yet it is also going to be a challenge because the more he interacts with others and sees them running and jumping and rolling around, the more questions Emmett is going to start wondering about and asking. We will face those together, right now we will continue to celebrate every improvement. It may be miniscule compared to others, but for a youngster with SMA Type 1 it is huge!
Emmett is now using a rear facing car seat - a Graco 4 in 1 - in combination with his car bed. It will take him a while to get used to it, but there is no question that he loves it. This is an off the shelf item which offers great head support and offers among the longest times that a child can stay in it and stay facing the rear. Very important to protect his head and neck. The first time he rode in it he was so happy and chanted "Bus. Bus. Bus." over and over. You see, the car bed is strapped into the floor of the van where it is impossible to see out the windows. One more step to help Emmett feel more and more a part of everyone else's world.
Water physio is a daily part of Emmett's routine. Usually it takes place in a bathtub. Once every couple of weeks in a community pool. And when there is a heat wave like the past few weeks here in B.C., in his kiddie pool outside. Which he hates because it is cold. And he loves because once he gets into it and used to the cold he has room to move about and have fun. And so does the local wild life! One morning Alisha and Josh found all of Emmett's pool toys scattered around their back yard. One of the sponge balls - a Paw Patrol sponge figure head - had the nose and face chewed off. The pool was almost empty of water. It wasn't until a day or two later that Alisha caught the culprits. A family of raccoons came into the yard while she was watering her garden - and looked at her like she was invading their space! Needless to say, they don't leave toys in the pool anymore.
These are just a few of the things that Emmett wants you to know!
There is nothing like a hug and in the last few weeks Emmett has started to give hugs! Another miracle first.
Emmett had another great trip to BC Children's Hospital (July 19th) which included a couple of nights stay at the amazing Canuck Place Children's hospice. Some parents of SMA children are posting that they've had their first, second or whatever number of injections of Spinraza their little one has had. We were going to post a number and then we realized that we do not know. It is not that this isn't important to us, because it truly is. The fact is that Alisha and Josh were intentionally kept in the dark about this because Emmett was part of a blind study that, for him, started in the fall of 2015. And even though they have been told that Emmett has been receiving the drug from the beginning, this study with Emmett has included some 'sham' procedures so we simply don't know. But we did ask and we will find out.
This was also the first time that Emmett's family was able to be present for the injection. While the honour of being present for a lumbar puncture may not be what every parent wants to attend, it was important to be there for Emmett. Of course, the doctors and nurses are all so caring and gentle with Emmett. The Doctor doing the procedure was one of the specialists who initially diagnosed Emmett and it has been fantastic to have him following Emmett throughout. He has been present for all of Emmett's procedures to date. The good thing about family being present was that the procedure was not as bad as what imagination leads you to believe. What Emmett disliked the most was the position that he had to be held in. Phew! Imagination is so much worse than real life - sometimes.
Prior to the lumbar puncture Emmett went through a morning full of tests and appointments. A physiotherapy session to do a standardized series of tests mandatory for all patients in the study. We were thrilled to see Emmett show off and also trying to encourage him to do things that we know that he can absolutely do at home! But of course, we couldn't do anything that would throw off the standardized testing so Emmett left some of his 'capabilities' on the table. For next time. At six months of age Emmett's physio study had quite a few zero's because he simply had no muscle reaction. You've heard us say he was a floppy baby, well, he absolutely was and the brain's messages simply never got through and the muscles just sat there. This time around Emmett was getting some great scores. In fact, if he continues on this pathway in the next year (maybe a bit sooner) he is going to pass this assessment level and be given a more challenging set of tests. That will be both exciting and challenging, as we know that it will take some time for him to develop the nerve pathways and strength to accomplish these more challenging tests. From the Physio study he went off to another section of the hospital where a nerve study was conducted. This is one session that Emmett is always happy to leave behind as they 'stimulate' the nerves and it is not something that he enjoys. They loved seeing him and were very happy with what they saw through the testing.
Throughout the course of the day we saw two of the study coordinators a couple of times and, as they have also been following Emmett from almost the time of his diagnosis, it is fantastic to see their reaction as Emmett moves about. The study coordinators (there are two - one who was blinded from the testing just like us and another who was unblinded and very aware of the process throughout. But I haven't asked for permission to say their names so right now you are going to have to stay in the dark about who they are!) are such key members of our Emmett medical team and we love them. Of course, Emmett saw his neurologist a couple of times for assessment before and after the lumbar puncture. His specialist was so pleased with the performance that this little boy was exhibiting with his muscle tone. In fact, just before he was discharged all of us (except Emmett) giggled when he held his arm bent while his doctor was trying to extend it! Usually you want your child to cooperate with their specialist, but when your little one who usually has no strength is fighting to keep the Dr. from straightening his arm, you simply have to cheer him on! We're pretty sure that he did all of the other assessments that were completed, but at the end of the day he simply was done and there was no way that he was going to allow his arm to be straightened. And he demonstrated his strength and will power by not letting it happen!
Just holding Emmett now, you can feel the muscle tone in his body. There is muscle tone throughout his core. You can feel him flexing his leg muscles and, as evidenced in the pics in the last blog, watch him lift his legs. Tightening his core tummy and butt muscles - even lifting his butt from the floor mat. And of course his neck muscles are getting stronger and stronger. It is so fantastic to watch. And feel. Like this next paragraph.
The latest milestone that Emmett has accomplished is that he is giving hugs. Alisha and Josh have never, until recently, had a hug from their little darling boy. The first one to get a hug was Alisha and Emmett 'finger crawled' (see the photo and his crawling fingers!) his arms up her shoulder and around her neck. Talk about an earth moving and teary eyed moment, this was one! Getting a hug from Emmett - simply wow! He gives them out very sparingly.
Other news was the very huge update that Emmett will continue in this drug study for another five years. What is so momentous about this is that while the drug, Spinraza, was recently approved for use in Canada it is still too early to know how this extremely expensive drug will be covered. According to the financial website "The Motley Fool", Spinraza is the third most expensive drug in the world [https://www.fool.com/investing/2017/04/18/the-7-most-expensive-prescription-drugs-in-the-wor.aspx]. This is beyond the ability of a young family to handle thus the knowledge that the testing is ongoing into the 2020's is fantastic. By then we hope that the province and insurers will have the funding question sorted out.
The trips to Vancouver are numerous so it is wonderful that Emmett lives as close to the city as he does. It looks like he will have one or more appointment in the city every week through the month of August and then a few in September also. The wheelchair van that Alisha and Josh purchased last summer has been an absolute gift. There is no way to transport people along with all of Emmett's equipment, not to mention his power chair, in a vehicle any smaller than a van. Alisha's mind is an absolute whirlwind of lists and checks as she gets ready for a trip to grandma and grandpas for the evening - so you can imagine when it's an overnight trip to the hospital. And on this most recent trip Emmett's nasal mask on his BiPap broke. Just from normal wear and tear but it is something that has never broken before so the spare had been left at home. Ironically, Alisha has had a spare one for every other trip except this one! This BiPap breathing machine provides Emmett with support probably 12 to 15 hours daily during a normal day. Longer if he's having breathing challenges so absolutely a must have after a significant hospital procedure like this. After a lot of calls and moments of panic one was located at BC Children's hospital so all was well (and saved us a 3 hour trip to Abbotsford and back). And another "cannot leave home without it" item was added to Alisha's mental and physical checklist of what is necessary to keep her little boy safe and secure.
Of course, the safe haven called Canuck Place is simply wonderful. This majestic old mansion has an interesting history with a few twists and turns, but it is such a wonderfully caring place for medically fragile little ones. There are beautiful gardens, accessible play areas, and wheel chair accessible pathways for Emmett to visit and explore. They have an awesome fish tank that he loves to watch. Poppy the service dog is a great favourite - although Emmett is still rather reserved around Poppy. He loved counting the bees that were visiting the flowers - we cannot make out the numbers yet but his pointing and verbal intonation clearly indicated what he was doing. The awesome staff there cheers Emmett on and, once he moves past his bashful mode, he is quite a showman and a chatterbox. It is impossible to say just how important all of Emmett's caregiver's and medical team are to us. From the bottom of our hearts, thank you so much for everything you do to support Emmett. And to all of you who are supporting Emmett on his journey, thank you for following along. And don't forget, many of the photos will expand when you click on them.
The next adventure - Emmett is going camping in the wilds of B.C.'s mountain country ... well, Grandma and Grandpa Willms' driveway will seem like mountain country to Emmett!
Up! Up! Up!
Health Canada APPROVED Spinraza today - June 30, 2017.
Up! What a common word for a little one around the age of two. It is used so often. To get mommy or daddy to pick them up. Perhaps to describe what needs to happen to a toy that has fallen. Maybe to express the feeling of making their way up the stairs ... or being carried up the stairs. After going down a slide it is very appropriate for Up! Up! Up! to describe the need to go back up and down the slide again. Emmett and I used to have the routine of reaching up to the ceiling (sort of like in the Lion King) so that Emmett could touch his ceiling airplane light in his bedroom. It was a must happen ritual when I had the opportunity to put him in bed for his afternoon nap or to sleep for the night. It was repeated for many days ... but Emmett has moved on from that. So when I heard this refrain as he was in bed and I was setting up his equipment for nap time, I wondered if he wanted to reclaim this ritual that has passed by the wayside. But then quickly set that aside with the realization that this two year old simply wanted to get up out of bed to continue playing. Imagine my surprise to turn and see him smiling at me, repeating Up! Up! Up! and touching his knee, which was raised up towards his chest as he was lying on his back. Very proud of himself and wanting me to see it. Maintaining his raised knee, with his foot off of the mattress, he then followed suit with his left leg. He's done this before, of course, and his mom and dad have observed it many times. Pam and I have seen it in water, but not like this. It was pretty exciting. To top it off Emmett raised both hands up into the air in a form of celebration and pure enjoyment of life. [Normally we do not show diaper pics, but this was such an amazing moment that we hope you will pardon the additional exposure that we are sharing in these photos.]
Enjoyment of life ... Emmett truly enjoys life. The drug that provides Emmett with these new pathways for the messages to traverse the nerves in his spinal column is still experimental in Canada. We hope that it is passed soon. That is a major hurdle. It may pale beside the next hurdle which is finding out how this extremely expensive drug, the only one that works on this rare genetic disease, will be funded to allow Emmett to continue to receive it. The trial he is a part of continues through to 2018. What happens after that? Will the drug be approved in Canada? Will there be funding for it? We don't know. There are no answers to those questions yet.
What we do know is that this drug, Spinraza, is life changing for those afflicted with Spinal Muscular Atrophy. Emmett was diagnosed with this genetic disease at five months of age. Between four and six months Emmett had lost a huge amount of muscle control with only minimal ability to turn his head while lying down or raise one arm. Before his diagnosis Emmett was a 'floppy' baby with weak muscle tone. He was a tummy breather and had a bell shaped body - his abdomen was much larger looking than his chest. The seriousness of this disease was evident when Emmett began having issues with choking on his own saliva. You see, it isn't just limbs that this disease affects. The muscles that enable swallowing. The ability of the lungs to function so breathing can take place. If a child gets this far, the formation of words and speech. Spinal Muscular Atrophy is the number one genetic killer of children. Period.
Spinraza is the first drug proven to affect positive change in those afflicted by SMA. Emmett has been enrolled in a trial program for this drug (which has had at least three names during this time) since the fall of 2015. Earlier this spring our assumptions that he was getting the real drug all along and not the placebo were confirmed (we were sort of in suspense for over 16 months waiting to hear). The changes have been small and have taken place slowly but cumulatively the changes are absolutely incredible. This drug has been approved in the United States. This drug has been approved in Europe. This drug currently has a special access program in Canada as Biogen, the drug company that owns this wonder drug, seeks for Health Canada approval and that provides hope. Hope for a medical treatment that was not available when Emmett was born. Except, of course, this trial study in which he was one of 124 children worldwide participating. A study in which only 2 out of 3 of the participating children received the drug; 1 out of 3 got a placebo.
This is not an instant cure. Emmett is still a 'floppy' child. He cannot crawl, stand, or walk. He has trouble picking up heavy objects but he is picking up all kinds of things that at one time we never thought would happen! As we've already said in previous blogs, he is sitting with limited support. He's going to be moving from his car bed to a car seat (well, not for long trips). And he can lift his knees up to his chest! Wonder what will be next? Believe me, so do we! What we do know is that as long as Emmett is able to continue treatments, then Up! Up! Up! is the long term view.
And yes, Emmett has watched the video "Up".
Visit Cure SMA Canada to stay up to date on the approval process of this amazing drug, Spinraza, here in Canada.
Health Canada APPROVED Spinraza today - June 30, 2017.
One of Emmett’s first words was ‘Da-da’. When Emmett sees family photos – even now – the first thing he sees and says is ‘Da-da’. If a white car coes down the street, ‘Da-da’ comes out of Emmett’s mouth. When a car pulls in the driveway and Emmett hears it inside the house, ‘Da-da’ is his first thought and expression.
Emmett loves his daddy. Emmett also loves his mommy and there is no question about that. No reason for mommy insecurities with this little boy. The reason for this focus upon Daddy is that daddy leaves for work … and church … and other activities. Mommy almost never leaves so the security is there. But Emmett's daddy has to leave! And all of us surrounding Josh, Alisha, and Emmett know how very hard it is on him to be away from his little boy. We also know how hard he works to arrange and rearrange his work schedule so that he can be there for as many of Emmett's crucial moments as he can be!
Josh is a fantastic daddy and when you see the two of them together you will recognize that. Josh reads stories and allows Emmett to get out of some stretching exercises. Emmett and Josh play catch and explore the back yard and neighbourhood. And they go swimming together in the big local pool. There are so many things that they do together! It is, however, tough to watch hockey together as Emmett so far chants 'Off!', 'Off!', 'Off!', 'Off!', 'Off!', 'Off!', 'Off!', 'Off!', 'Off!', over and over again. He will learn, but right now hockey is simply not as good as Paw Patrol!
What is the sign of a great daddy? I am not qualified to answer that question, but according to Emmett, it is his daddy!
Josh, thanks for being a fantastic daddy.
Love from Alisha, Rhonda & Roger, Pamela & Frank