Well, this actually happened on Mother's Day the 11th, but I'm only getting around to posting them today. One of the things that Emmett is working on right now is to build up his endurance for sitting. Obviously this photo is at his school's playground, yet Emmett isn't ready for school. He cannot stay sitting more than two hours. So it is home school support. One advantage is that if Emmett really likes a subject, then he can spend a lot more time working on it. Emmett is also not ready to try out the swing that he loves - so his little brother Theodore got to use it.
In the photos below from left to right, Emmett enjoying his favourite subject/hobby/pastime - reading. I don't remember the title of this book - but if you're thinking that this novel looks huge for a 10 year old kid, allow me to say that many adults would be scared off from just the size of it. Then Emmett and Theodore sharing Mother's Day cards with Grandma. Emmett thinking about the time that his grandpa took him down the twirly slide and they got stuck and he got some bruises - and all of us got shivers down our spines and absolutely did not even consider going down it again. Except for Theo - you might see the top of his head as he flies down it. Emmett's loaner chair doesn't tilt, but after some work on his very old and rebuilt many times chair that he uses for power chair soccer, we got the tilt feature working again on this old setup. While sitting upright is obviously a goal that Emmett challenges himself with every day, he can stay mobile longer if he is tilted. Thumbs up for comfort! And the final picture is of Emmett supporting Theo while Theo is shouting, "Higher! Higher! Grandpa, push me HIGHER!"
It will be a few more weeks before Emmett is comfortable to be physically lifted into the swing or the ATC (short form for the All-Terrain Chair!). And maybe any cardboard box boat adventures will have to wait until next year!
Every day is better than the day before. First up, any 10 year old would want you to know that he is not in school. But they bring school to him and he is working diligently.
Second, the improvement is ongoing. Emmett's posture since the spinal fusion surgery is incredibly upright. His breathing is easier because his lungs have so much more room. Unexpectedly, he's able to reach things more easily.
Last Thursday they removed the staples from the incision on his back. The number got lost but it was something like 55 to 75 or 80 staples! This incision is about 35 centimetres long. While getting the staples removed at BCCH the word was that everything looks good as he's recuperating from this major surgery. Fantastic news. We're also pleased to report that he is sleeping better. His activity level is much reduced compared to pre-surgery and that is to be expected. There is still much healing that has to take place but Emmett has come so far already! As he has missed the spring guy's camping trip, he's making plans now for the fall excursion.
I think that there will be more pictures tomorrow!
Emmett is enjoying being back at home and Theodore loves having his family back with him! Emmett now sits so tall in his power chair that it is incredible to see him! He is literally centimetres taller than he was two weeks ago. (It sounds so much better to say that he is inches taller but that also really dates me!). Emmett also got home in time to enjoy the spring blossoms but, as you can see, it's literally snowing blossom petals in their front yard.
Alisha and Josh are so very pleased with how this young man is doing - but it isn't all blossoms and petals (I cannot say roses as they aren't blooming yet.). Emmett is not sleeping well so that is the next obstacle to overcome. Another challenge is that none of the adaptive seating or positioning equipment that they have is suitable for Emmett to use. Fortunately, tomorrow (Monday the 28th) that will be worked on so that Emmett has more options.
Meanwhile, lounging on their balcony and cocooned with pillows is a comfortble option.
This is so awesome. Emmett is coming home today and everyone is excited about that. And sorry that we didn't have an update yesterday. Emmett got to hang out with his cousin, Greyson, and his Uncle Ben and Aunt Alesha.
The question of the day is "Have you ever had surgery?" and while it isn't part of the question, the next should be how many staples did you get? Emmett has more than Theo can count using all of this fingers and toes!
Emmett is very thankful for how everyone has been supporting him. That is so awesome. Everything from the MealTrain that his Aunt Alesha set up for his mom and dad to things specifically for Emmett - like the Barnes&Noble gift certificate that allowed him to complete his set of RedWall books!
The wrinkles continue - the technician who came in to fix Emmett's 4.5 year old power chair has condemned it! Written it off! The cost of repairing it is too high! Emmett literally ran it into the ground. Fortunately, they've provided a very rare loaner chair which is greatly appreciated. Emmett has to ride in his chair in the van, so without his chair or a chair he would have been stranded in Vancouver. While the process for replacing his chair was underway it was not anticipated to take place for another 6 months. We're hoping that this can be fast tracked!
Yes, you read that correctly. Emmett continues to impress the hospital staff and he will be discharged this weekend. His pain management is well under control. His movement is really good. And he is sitting up for over an hour at a time. Friday the goal is two hours at at time. Today was an incredible day because Theodore got to go to visit his big brother and his mom and dad. It has been a long time since he has seen them and everyone was very happy to be back together again.
Sure, it is a little late for an Easter morning photo - especially when said photo was taken a week before Easter, but these two boys were both pretty excited. Then things just seemed to stop ... for both of them. But we're excited today also. We've described this spinal fusion surgery as major and it absolutely was. Nine and a half hours of surgery is major. If you do a search on painful surgeries you will find that spinal fusion is near the top of the list. And that is for connecting just two or so vertebrae in the spine. Emmett's fusion was most of his back along with the placement of metal rods. There is just no way to downplay this. It was absolutely "H E double hockey sticks"!
Yet a week into recovery now and Emmett is bouncing back. Of course there is a long way to go but when Emmett rolled his eyes at one of my comments, I knew that a positive turning point had been reached. When he allows his mom to give him a hug every time she asks, you know that he's feeling better (and that the pain killers are inhibiting his inhibitions, because this tween doesn't usually like getting hugs!). When he's joking with his dad, there's a sense of normal returning to his world. The first 5 days he literally didn't want to be touched. Or talk to anyone.
There is no question about it, his spine is so much straighter than before the operation. He's been sitting in the big, comfy chair twice a day (grandpas are not allowed to sit in it!) and today he was also sitting in his redesigned power chair seat. It had to be redesigned because the supports he used to require to hold him up straight, to reduce the progression of scoliosis, are no longer needed. Emmett literally couldn't sit in his seat that he's used for the last several years. His back is now completely different and so is the power chair seat! The question is, when will Emmett get to take his power chair outside to enjoy the spring weather! Soon, we think. Scoliosis zero; Emmett 10!
The survey question of the day for today - do you like camping? You're welcome to respond too - just let anyone in Emmett's family circle know your response. I'm sure that they will pass it on to Emmett!
Tuesday, April 22, 2025
Emmett's little brother, Theodore, really misses his big brother and his mom and dad too. Even though he got to play in the stream and hang out with Marjorie the Kitten at Grandma Rhonda and Grandpa Roger's house; and play trains and cars at Grandma Pam and Grandpa Frank's house - it just isn't the same.
Theo loves to take over Emmett's wheelchair and race around the house. He loves to speed around the neighbourhood on his balance bike - and he's starting to like his pedal bike. But it has now been a week that he's been with grandparents and that just isn't the same as being with his mom and dad and brother.
There are always lots of video chats and Theo heard that Tuesday was the day that Emmett sat in the big, comfy chair twice. Emmett had another really positive day. And on Wednesday Emmett's orange power chair is going to get a completely revised seat that will be designed for his brand new posture! And on Thursday a power chair mechanic is coming in to fix the very badly broken suspension. Today was not so much a health update but a life update. Stay tuned for more!
I had a chance to visit with Emmett, Alisha, and Josh today. Emmett was in great spirits and it was so good to see him. He even stopped watching Star Wars to indulge me as we made Hippo Toothpaste. If you don't know that Emmett loves Hippos, well, that's another story! But we did and it was fun and we didn't make a mess of the hospital room. Even better, I wasn't banned from coming back! Click here to watch our Hippo Toothpaste Experiment.
Emmett was sitting in the big, comfy chair for over 20 minutes. His mom and I had egg salad sandwiches for lunch. And I got to meet some of his medical team as they were in and about. Plus, today Emmett started a long standing tradition of having a survey question a day on his hospital room's white board. Today's question was "Do you like Star Wars?" and the yes side was ahead when I left. The no column was empty BUT there were 2 people in the "I've never seen it" column. Fortunately, they were fans of Toy Story so redeemed themselves. I think Emmett is planning to have a room party with a large screen TV so they can watch the very first Star Wars' movie.
Emmett and I also came up with a few more questions that he can survey his staff in the upcoming days!
Saturday was a momentous day. With the ICU team's help, Emmett sat up in bed for a while. Then he was moved from ICU to the Spinal Team's floor, obviously a good sign. There the team positioned him in a sling, lifted him up, and set him down in apparently what is the biggest and most comfy chair in the world. Emmett acceptance of this seated position in this big, comfy chair was his sign that this was indeed a comfy, big chair. Emmett has slept very well the last two nights. And he's finished one Star Wars TV series and started another! This boy has never had this much TV time!
Saturday, April 19, 2025
We FaceTimed with Emmett for a few moments this morning before he had to leave for something more pressing - the movie he was watching. Emmett is doing well. The staff had him sitting up in bed this morning. This surgery has been tough but he is tougher! His doctors and nurses are pleased! Alisha and Josh are alternating nights with him, supporting him 24/7. As great as the staff at BC Children's Hospital are, Emmett needs his mom and dad.
And the Disney Channel is amazing! Probably not what you think when Disney is mentioned - he's into Star Wars and the Marvel Universe.
Alisha and Josh want to thank everyone for the support, care, and generosity provided. We're not going to name names, but books and Lego for Emmett, gift cards to get meals as they are in Vancouver (while spending huge amounts of time at BCCH their home away from home is - quite fittingly this weekend - the Easter Seals House. It is lovely and so close to the hospital), and even a thorough cleaning of their home. It will be spotless when they come back. Most of all, your support. The way you let them know that you are praying for them, thinking about Emmett, and uplifting their spirits! Messages via FaceBook directly to them or indirectly through a family member are so appreciated; but please don't expect a response. Thank you!
In addition to using this website to give updates on Emmett, it's also a bit of a teaching tool. Over the years we've talked a lot about Spinal Muscular Atrophy, Type 1. The amazing drugs that he has been privileged to access (first Spinraza/Nusinersin by lumbar puncture and now Evrysdi/Risdiplam by his G-Tube) have been life changing. This means that he is more physically active and upright than individuals with SMA Type 1 from two decades ago. It shouldn't surprise you that Emmett is in his school's chess club but you might be surprised that he's also on his school's cross country team! That he's on a Challenger Baseball team and that he has been playing power chair soccer for years. It isn't a surprise to his wheelchair mechanics who have to fix his very worn out chair quite frequently. Emmett has Scoliosis - a curvature of the spine. This curvature has been closely monitored for years and this Spinal Fusion Surgery has been anticipated for a long time. Straightening his spine that means that his internal organs now have more room. His lungs will have more room and he'll be able to breathe more freely. Again, for those who've followed Emmett's Journey, you know that SMA has a significant impact upon Emmett's lungs. This surgery will enhance his life. If you're brave enough, you can read more about spinal fusion here.
Just a brief update - Emmett slept well. The drugs he's getting are doing a great job. Last night he was very alert while in the ICU recovery - to the surprise of his nurses. And right now he prefers sleeping on his tummy.
Alisha and Josh haven't seen Emmett yet, but they have spoken with the surgeons. The surgeons described Emmett as a "Rock Star"! The operation was expected to go until 6:30 to 7 p.m. PST, so they are very happy. As mentioned, Emmett was out of surgery just after 5 p.m. PST.
We will post more tomorrow, but this will be our last post today. As you can appreciate, Alisha and Josh are completely drained. There are no words to describe Emmett, as amazing as he was during the surgery that was only the start. Emmett now faces a long and challenging recovery time. If mom and dad aren't in with Emmett yet they will be soon
Shortly after 5 p.m. (PST) Emmett was out of the operating room and into the ICU recovery area. Alisha and Josh have not yet seen Emmett. They have not spoken with the surgeon.
Emmett is currently in the operating room at BC Children's Hospital (it is currently 8:40 a.m. PST) and there will be no updates on the surgery until the end - that means no news until 6:30 p.m. PST. Alisha and Josh are at BCCH and obviously waiting ... impatiently waiting. Alisha and Josh will appreciate your support via prayer, facebook messages, emails - it will be welcomed. But please, do not expect a response. They simply may not be able to do that.
Emmett's aunt, Alesha, has set up a Meal Train that you can find at https://mealtrain.com/96mk2o .
Emmett will be at BCCH for at least a week and more likely 10 or more days. The recuperation period will be lengthy. You can imagine that a 10 plus hour surgery is going to require a lengthy recuperation. The advantage of this surgery to place these rods in his back is that it will straighten the curve in his spine (scoliosis) that will give his internal organs the space that they require.
So much has happened recently, and our Blog has literally collapsed. After over 8 years we have moved Emmett's Journey to a new setting and, in the process, discovered that the unique way our previous blog was set up by the local provider (that basically went belly up) meant that we couldn't transfer it. Thus we have to rebuild. But don't worry, we have all of the entries saved. Now we just need time to rebuild - it will take weeks! (Strike that - it's been a year now).
But that isn't the big news. The big news is BIG. In fact, it is HUGE. In fact, it is INCREDIBLE!
February 15, 2024 was Emmett's last lumbar puncture. That was, to the best of our knowledge, his 32nd lumbar puncture. Even if you haven't been a regular reader of our blog, you can fully understand when we tell you that Emmett absolutely hates lumbar punctures. They are the worst. But that is how the incredible drug called Spinraza is administered. The lumbar part of the journey has been a challenge for all of us but the benefits of Spinraza have been so amazing that even Emmett knows the value.
But that all changed 24 days ago.
24 days ago Emmett received his first shipment of the drug Risdiplam, which has it's main name Evrysdi. This is an oral drug, or in Emmett's case a drug that gets administered through his G-Tube feeding port, that is taken daily. At home! And no more lumbar punctures!
While Spinraza was the first treatment approved for Spinal Muscular Atrophy, Evrysdi was not far behind. Emmett's neurologist at BC Children's Hospital is very positive that Evrysdi/Risdiplam will continue to benefit Emmett. Quite possibly it will target his fine motor skills (not just hands but also speech and swallowing) even better than Spinraza.
Please note that Emmett's Journey blog has to be rebuilt - we hope to return it to it's original form but it will take us weeks to get the content and formatting back as it was. Please be patient. June 12, 2024
At just 5 months of age in August 2015, Emmett was diagnosed with Spinal Muscular Atrophy, Type 1. Type 1 is the most severe category of SMA, and in 2015 this disease was untreatable. However, in October of 2015 Emmett was accepted as 1 of 124 children around the world in an experimental drug program. We welcome you on his journey ...
Emmett is in Grade Three at public school! After doing Kindergarten and Grade One via distance learning, he chose to go to 'his' public school for Grade Two and now Grade Three. The stimulation of a classroom full of age peers is so beneficial! Well, the flu and viruses that go along with school are not so awesome, but he's really enjoying his classroom.
March 9, 2015 is the day that Emmett Jeremiah arrived into this world. He was a beautiful little boy weighing 7 pounds 2 ounces. The delivery was spectacular. Emmett and his mom came through with flying colours. His dad was right there with them. The obstetrician commented that Emmett's mom was amazing in the delivery room and that she should have many more kids. Emmett's extended family fell in love with him.
Fast forward to August 18, 2015 when Emmett was just over 5 months old. He was a beautiful little boy weighing 14 pounds and quickly closing in on 15 pounds. Emmett, just like the day he was born, is in a hospital. Spinal Muscular Atrophy, Type 1! Does anyone in your family have a genetic disease? The diagnosis is unquestionable. The hospital walls echoed with words and phrases that pressed in on Alisha and Josh. They could barely breath. "Genetic testing." "Possibly just SIX months to live." "Maybe he could live to 4 years." "You might hear him talk." "Tracheotomy." "Gastric feeding tubes." "No treatment." "No hope of recovery." "Experimental study." Emmett heard all of these words and he still smiled and giggled - he was even content when he got the blood work done - and he still brightened his parents' world, even though they looked at him through tears in their eyes and with hearts that had just been broken and crushed.
Emmett Jeremiah had just been diagnosed with Spinal Muscular Atrophy, Type 1. No one survives this disease past age 4. No one. (We have learned since that there are absolutely some Type 1 who have lived and thrived well past age 4.) It is a fatal genetic disorder. There are some trial procedures going on right now, but they are limited in both availability and what they will accomplish. Our perfect little boy has a genetic condition that none of us even knew existed. Emmett's extended family fell even deeper in love with him - and yes, it is possible.
This story is to tell you about Emmett and to tell you about this horrific disease, which I'm betting you hadn't even heard about. Don't worry! You're not alone. Some medical professionals have never heard about it! Spinal Muscular Atrophy, Type 1. There are four types and each level reduces in the severity of impact upon the individual. Type 1 is the worst. It is our worst nightmare.
Alisha and Joshua Willms are really good people. No, really. I'm not just writing that because I'm biased (of course I'm biased, I'm Alisha's dad. But they really are). They met when they both attended the "Outta Town" program at Canadian Mennonite University in Winnipeg. In this program they travelled across Canada and were involved in service projects from Ontario to British Columbia in term 1 and then across South Africa in term 2. They fell in love and then lived a long distance romance as Alisha continued at school at CMU and summer work in Ontario while Josh returned to work in BC and, as he could afford it, school at Columbia Bible College. They both wanted to serve God and to serve others. Don't worry about being preached at! This story is one about loving your child, having faith and being tried beyond what any human should face, not about preaching, and I hope that you keep reading regardless of your belief system.
Married in Ontario, Alisha and Joshua moved to British Columbia. Joshua worked in construction as a drywaller and continued to attend CBC as he could afford tuition. Their goal was to be able to reach out to those in need and support them. Ideally, to help them become self-sufficient. Alisha had completed her B.A. and started working at Cyrus Centre. This organization is designed for street kids to have a safe place to drop in and get food and support. It even has beds to provide short term emergency overnight care. I like the term Urban Youth Missionary to describe her role at Cyrus Centre. While Joshua finished the last year of his B.A., they took on the role of House Parents at a brand new community outreach called Babich House. They had up to four teenage boys living with them (and two university age support workers) in this newly renovated home. 24/7 - an instant family of teenage boys - all bringing with them a wide assortment of emotional baggage. And none of them knew how to clean the kitchen. Or the washroom. Alisha and Josh's role, to be effective role models and provide guidance and support to these young men as they sought to get their footing and direction in life. Upon graduation, Josh began working as a youth minister at Level Ground Mennonite Church. He has been in that role for just over a year. They have done everything they can to support and give back to their community.
Meet Emmett, in late August he is a 5 and a 1/2 month old little boy. His eyes are piercing and they follow you wherever you go. He loves interacting with everyone. Tickle his feet and you will have made a friend for life. Hiking with his family is one of his favourite things to do. He's been to the top of Whistler and Blackcomb, through Rogers Pass, spent time in Glacier and Banff National Parks, and even spent a week working at the Okanagan Gleaners - preparing food to be dried and sent overseas as a soup mix to feed the hungry. When I say working, he was the team morale builder! Chilliwack Lake Provincial Park in B.C. is his favourite campsite - he's so comfortable that he can fall asleep almost anywhere!
Emmett is a perfect baby! That may have made his mom start to question when he was 2 or 3 months old, because he would quietly lay while she was changing his diapers. No kicking or fussing or wrestling while she tried to get them on. Alisha started looking up items on the Internet - because at this point her family medical clinic simply reassured her that Emmett was just fine and all babies develop at different rates. Alisha discounted many things found on the Internet related to 'Floppy Baby Syndrome', because two factors that Emmett shone at were sucking and pooping. And these two were high on the list of floppy baby syndrome, so maybe it was just slow development. However, as Alisha and Josh started observing younger babies who had much better muscle control of their head and limbs, they started asking more medical questions. On Thursday, August 13 they were back in to the clinic. This time their doctor saw what they were concerned about. In fact, he may have seen more because he had them in to a paediatrician the next day. That visit was alarming with lots of questions being asked and appointments were made with specialists at BC Children's Hospital on Tuesday, August 18. Talk about a weekend that dragged on and on - this was it. The fear and uncertainty were oppressive. It was at BC Children's Hospital, checked out by three specialists, that Emmett was diagnosed with Spinal Muscular Atrophy, Type 1.
Alisha and Joshua love their little boy and are beyond devastated, but they believe with all of their heart and soul that Emmett deserves a life lived to the limit. Expect him to go on more camping trips! He will have adventures. They want to see him smile every day. This is partially for them too; after all, you cannot be sad when you're with Emmett and he's smiling.
As an entire family, we appreciate your support, warm wishes, and positive energy. If you pray, we are believers who value prayer. We want and need you to pray. Laugh with us - tell us a joke. We will probably laugh, yet be prepared for tears as we never know when they'll appear. Be also prepared for little reaction, maybe none at all. You may have found us on a day when we simply don't have anything left. Please, don't be upset with us. Our world has just come crumbling down around us and there will be days when we have nothing to give. Likewise, you may see us from a distance laughing and acting crazy. Come and join us. We may be trying to make Emmett laugh. We may just need to be manic for a few moments and release some pent up emotions.
If you meet Emmett, I have a few things to request. First, look for hand sanitizer and apply it to your hands. Seriously! Second, if you're sick or under the weather then please don't approach them. Sorry, but your illness could have significant implications for them. (Even if Emmett isn't with them). Phone or email would be best if that's the case. Third, please don't ask if you can hold him. I hope you can understand that this would just be beyond their comfort zone at this time. Fourth, while you may know someone who has an amazing set of exercises that has done wonders strengthening babies' muscles - don't share that. In Emmett's case, it won't work. Also, don't tell them that you know someone with SMA and they're a young adult and moving about reasonably well. We're so happy for the person that you know is still with you, but please realize, they most likely have a different kind of SMA than Emmett.
Spinal Muscular Atrophy, Type 1. The short form is SMA. It's devastating. Even Type 2, 3, or 4 are devasting and terrible - but Type 1 means that the child's life expectancy is fragile - his mom and dad have to protect him from germs, from throwing up and choking - possibly inhaling vomit into his lungs, and make sure he's breathing. Please, don't ask if you can hold Emmett. Please, give them lots of space if you're not feeling well. Alisha and Josh have been advised to avoid having Emmett in all busy, congested places - like malls, grocery stores, and air planes. Now, with 20/20 hindsight, we can identify the symptoms of SMA Type 1 which we saw - but couldn't identify. That was his very weak leg movements (he loved being in water where he could easily move his heavy legs around), delayed grip, little ability to control his head muscles, and breathing with his diaphram (stomach breathing).
This is my simple layman's understanding of SMA Type 1. Muscular Dystrophy, which most people have heard of and often confuse with SMA, is the group of diseases that cause weakness of the muscles due to a genetic defect. Spinal Muscular Atrophy describes the group of diseases in which a progressive degeneration of the spinal nerves causes a wasting of the muscles they control. 1 in 50 people are carriers of the survival motor neuron 1 gene, which decreases survival motor neuron protein, and this decrease causes the destruction of the nerves in the spinal cord that control neuromuscular growth and function. Carriers experience no symptons. Carriers do not develop the disease. When two carriers have a child, there is a 1 in 4 chance their child will have SMA. It can vary in severity. SMA is the #1 genetic disease that kills youngsters.
SMA type 1 - most severe and the life expectancy is generally two years, however, there are always exceptions. Some youngsters are in their twenties ...
SMA type 2 - children have greater SMN protein but still have a shortened lifespan and can never stand independently.
SMA type 3 - children have a normal lifespan but have life-long physical disabilities.
SMA type 4 - adult onset.
Click on the Daily/Weekly Thoughts button at the top of the page to go to Emmett's Journey - The Blog.
UPDATE: On June 30, 2017 Health Canada approved Spinraza - the only drug that has demonstrated successful results in patients with Spinal Muscular Atrophy. In the spring of 2017 we were officially told that throughout the global blind drug trial that Emmett participated in, he was getting the drug and not a placebo. He continues to improve.
The USA FDA has now approved two additional treatments. Zolgensma is a gene therapy that targets the genetic root cause of SMA. Evrysdi is an oral treatment and is the third drug approved for treating SMA in the past four years.
References:
For more information, visit these links:
Caring Choices: For Families Newly Diagnosed with SMA Type 1
Respiratory Care for SMA patients
Emmett is finishing Grade Three at public school! After doing Kindergarten and Grade One via distance learning/home schooling, he chose to go to 'his' public school for Grade Two and now Grade Three. Yes, you read that right. He was absolutely involved in the decision to go to public school and he wanted to go there very much. On our neighbourhood walks we would sometimes go by the local public school, and he always called it "his" school. The stimulation of a classroom full of age peers is so beneficial! Well, the flu and viruses that go along with school are not so awesome, but he's really enjoying his school. The staff is absolutely incredible.
He loves reading - he goes through novels very quickly. While he reads to himself, he also loves having books read to him. Plus he's a pretty amazing chess player - if you're up for a game let him know.
March 9, 2015 is the day that Emmett Jeremiah arrived into this world. He was a beautiful little boy weighing 7 pounds 2 ounces. The delivery was spectacular. Emmett and his mom came through with flying colours. His dad was right there with them. The obstetrician commented that Emmett's mom was amazing in the delivery room and that she should have many more kids. Emmett's extended family fell in love with him.
Fast forward to August 18, 2015 when Emmett was just over 5 months old. He was a beautiful little boy weighing 14 pounds and quickly closing in on 15 pounds. Emmett, just like the day he was born, is in a hospital. Spinal Muscular Atrophy, Type 1! Does anyone in your family have a genetic disease? The diagnosis is unquestionable. The hospital walls echoed with words and phrases that pressed in on Alisha and Josh. They could barely breath. "Genetic testing." "Possibly just SIX months to live." "Maybe he could live to 4 years." "You might hear him talk." "Tracheotomy." "Gastric feeding tubes." "No treatment." "No hope of recovery." "Experimental study." Emmett heard all of these words and he still smiled and giggled - he was even content when he got the blood work done - and he still brightened his parents' world, even though they looked at him through tears in their eyes and with hearts that had just been broken and crushed.
Emmett Jeremiah had just been diagnosed with Spinal Muscular Atrophy, Type 1. Very few survive this disease past toddler age. We have learned that there are individuals with Type 1 who are adults, but the physicians initially told us that no one survives and that it is a fatal genetic disorder. There are some trial procedures going on right now, but they are limited in both availability and what they will accomplish. Our perfect little boy has a genetic condition that none of us even knew existed. Emmett's extended family fell even deeper in love with him - and yes, it is possible.
This story is to tell you about Emmett and to tell you about this horrific disease, which I'm betting you hadn't even heard about. Don't worry! You're not alone. Some medical professionals have never heard about it! Spinal Muscular Atrophy, Type 1. There are four types and each level reduces in the severity of impact upon the individual. Type 1 is the worst. It is our worst nightmare.
