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!