Daily/Weekly Thoughts
Daily/Weekly Thoughts

August 2015

Blessings

I know. You're looking at the title, Blessings, and saying that there is no way. I guess logically there is no way there should be blessing through this, but if we look at it illogically there are. Lots of them. So break out of your rut, and look at this illogically. We are. We have too!

Dr. Selby is the leading SMA neurologist on the west coast, if not in Canada. What a blessing to have someone who knows almost everything there is to know about this genetic disease. The medical team - more on them in a later blog - is extensive and wonderfully caring. CureSMA.ca is a fabulous network to provide support for families who have received this diagnosis. Again, very practical things. From toys that work to help keep Emmett stimulated to ideas and suggestions for the parents.

 

This blog has the full support of OSM Networks. I have another website with them and, while I was working on a draft of Emmett's Journey blog, I had a few questions that I didn't have answers for. Not only did OSM Networks have the answers, they assigned their staff to set it up properly and are hosting it. All at their expense. We really appreciate that. Dave, Scott, and the rest of the OSM team - we greatly appreciate your support.

 

Emmett loves movement and the adrenaline rush of activity. His lack of muscle control requires that activity be carefully supported. That meant that his Jolly Jumper sat unused, because he simply didn't have the muscle control required. We did have him in it - his mom supporting his head and his grandma bouncing him. His face literally beamed. But that was a lot of work to do on a consistent basis. A call to my friend, John, who is a key person at Jolly Jumper revealed that they didn't have anything designed for what Emmett needed. However, on sending in some sketches, John sent out a list of products that he thought could be modified. More on this soon, but John, God Bless you for your help and support!

 

Support from friends and emails from around the country have been coming to them. Offering support and asking how help could be provided. We hope that through this blog you will be able to stay in touch with Emmett, Alisha, and Joshua. Hopefully over time it will provide you with a means of keeping updated on the ups and the downs ofbaby Emmett's life with SMA Type 1. Alisha and Josh have not had time to personally contact all of their friends. Please understand and appreciate that they are focused upon Emmett. As of September 2, they've only had two weeks to grasp this themselves and they've had to absorb so much information. It is simply to emotionally and physically draining to tell everyone individually about their Emmett. That is one reason for this blog.

 

Practical things have been so touching. The loan of a travel trailer to handle guests who've come from out of town. Likewise, a bed was provided to give extra space. There have been gifts of gas cards/money to help cover the multiple trips to BC Children's Hosptial. That is absolutely a wonderful to a young family on a tight budget. There have been friends who've supported those of us in the East to make it out west with access to flight discounts on airline travel. Gifts from the BC Lions are greatly appreciated - Emmett is anticipating (as much as an almost 6 month old can anticipate) attending a BC Lions game in early October. Josh is also looking forward to this also. The main thing - your prayers, kind wishes, and warm thoughts. We already know that there are people praying and supporting Emmett across North America - and even overseas! 

As we've mentioned, Josh is a youth pastor at Level Ground Mennonite Church in Abbotsford. They are providing the flexibility with work that this young family so desperately needs. They have also activated a Meal Train! What an amazingly practical and thoughtful way of supporting Emmett. There's no question that at times they are simply too exhausted to think about preparing meals. Josh will be involved in a Church youth retreat on Labour Day weekend - and a travel trailer was offered so that Alisha and Emmett can travel along to keep this family close together. And to ensure Emmett will be safe and comfortable. All of this is, without question, a blessing.

Family. What more can we say. The support and care from family. Emmett has had wonderful visits throughout the summer with his grandparents and his Aunts and Uncle. He's even seen extended family. Emails, phone calls, cards and letters, Skype conversations. Those times are a blessing. Also challenging. But a blessing. Alisha and Josh know that some family members are simply too far away for a visit - so this blog is for you to get to know Emmett and enjoy his presence as much as we do.

Most important of all of these, Emmett is an incredible blessing. He is an unbelievably happy little boy. Your spirits are lifted beyond grief when you have a chance to interact with him.

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Blissful Ignorance

I remember thinking, when Alisha and Josh were engaged, how diverse and great their gene pool would be. Pretty bizarre thought for a man whose kid wasn't even thinking of having a child at that point. But I thought it. After all, Alisha was from Ontario and she is a third generation in Ontario. Josh and his family are third or fourth generation living in British Columbia. That was a struggle - not because we didn't love Josh - but because it was so far away. Pam and I often joked that either we raised amazingly strong, independent young women (we have two girls) or they couldn't stand us - because at the time we had Alisha in B.C. and Katie in Australia. One as far away from us as possible yet still within Canada and the other on what seemed like the other side of the world. Probably because Australia is on the other side of the world. Long distance plans, social media, Skype/FaceTime all help shrink the distance. Why, when I was young none of this was possible - it was a mailed letter and maybe an infrequent and quite expensive long distance call. Plus we walked 5 miles to school, in the snow, uphill both ways!

 

Thank God for technology. Alisha and Josh called us from the BC Childrens Hospital when they got the diagnosis of SMA 1. Within moments of them hearing it, we heard it and shared their grief. Thank God that Josh's family is in BC and his mom was with them at the appointment. And Katie, Alisha's sister, was visiting with them and so she was there too. They had family there at this most challenging time of their life. Josh's dad was there when they returned to Abbotsford from Vancouver. Alisha's mom flew out the next day. My flight had to be cancelled - on Wednesday I was in to see my doctor and Shingles was diagnosed. My presence could compromise Emmett's health by causing Chicken Pox - so I've been on prescription drugs and impatiently waiting for the contagious period to pass. I will be there soon. Remember in the first post how I requested that you give them plenty of space if you're not feeling well? Our family is practicing that also! Emmett comes first, not our need to be with him. I do love the way Emmett expresses himself - like this pic where he describes his feelings about SMA!

With this diagnosis of SMA 1 our entire family has suddenly become knowledgeable about this genetic disorder. There is no known history of this disease on either side of our families. As far back or as wide a spread as we know about. Silent carriers! No warning signs. We will be having genetic testing to be able to make our respective families know if there is a possibility that they are carriers. Dr. Google has provided much information - yet I caution you as I cautioned my family that you may not want to research it without a box of tissues close by. As we have done so, I think all of us question why this disease is so unknown! In the United States there has been talk that all couples getting married should be screened for the gene that leads to SMA 1. It is far more common than we think. Is it because the most severe cases, SMA 1 and SMA 2, affect only children and they may be gone before their parents have a chance to tell the world about their journey? Emmett's dad, Josh, wants to make sure that everyone knows. It doesn't matter if the carriers are couples from opposite sides of the country or have lived in the same village all of their lives. If two carriers come together then they have a 1 in 4 chance of their offspring having this disease. And yes, what you're wondering is absolutely right. The risk is that high for future pregnancies. Brutal honesty. Alisha and Josh heard this news the same afternoon that they heard Emmett has SMA 1.

It's ironic that August is SMA Awareness month. Wow! Have we ever become aware of SMA. And now as our families grasp with this genetic disease, we must pull even closer together to support Emmett, Alisha, and Joshua. Then when we have time, we are going to make people aware of SMA. Spinal Muscular Atrophy. If you skipped over the first post, Emmett's Story, my layman's definition of SMA is found in the last paragraph coupled with links to more professional descriptions.

Blissful ignorance. That was us the first five months of Emmett's life when we did not know what his body was doing to itself. Our hopes and dreams for Emmett continue - even though we know the brutally honest truth about SMA. Blissful ignorance - it is time that our communities are more aware of this disease that primarily strikes children. Little ones without a voice to share the news. A cure must be found!

Families of Spinal Muscular Atrophy Canada Society is an organization committed to finding a cure. Please, consider supporting them in their initiatives and research.

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There's Always Hope ...

The purpose of this blog is multi-fold. One is to keep family and friends updated on Emmett. The second is to raise awareness of this serious disease. And it's also a journal to record history of events that are happening so fast that we may otherwise lose them. We invite you to follow along with us as we laugh and cry. After essentially 5 months of blissful ignorance, there have been three trips (in the first five days after the diagnosis) to BC Children's Hospital and the supports that are available in the surrounding area. Family from both sides has been there to support them, attend appointments together, and enjoy Emmett.

On August 25th there was a full day in Vancouver. Visits and appointments included a Dietician, Occupational Therapist, Respite Care Home Doctor, Neurologist, and Respirologist. The Respite Home, Canuck Place, is a well-appointed facility that is staffed with a full slate of medical supports and it is designed to provide short term relief for parents who are exhausted and, when necessary, long term care. This facility is for children up to 18 years of age. The team surrounding Emmett has become very large - Doctors, Nurses, Therapists, Social Workers, and Parent Support Groups. They are incredibly caring and also very blunt and honest. There is no mistaking the diagnosis.

There is a 2% chance that SMA 1 has just appeared out of no where; 98% chance that the parents are both carriers. Alisha and Josh will soon undergo genetic testing. After that has been completed, if they are in the 98% realm then the 4 grandparents will all be tested. After a long day in the hospital, back home to eat and debrief. Fortunately, home is only an hour away from the hospital.

Dr. Kathryn Selby is Emmett's neurologist. Her area of interest is neuromuscular disorders. She is very hopeful that the research will lead to a cure for SMA in the next five years. She is involved in a study that has shown positive improvements in the quality of life of her tiny patients who place their trust in the adults around them. Alisha and Josh, with support and guidance from their medical team and their families, have some very tough choices to make. The trial is not a cure - yet. But there is hope. While searching online, Alisha found the story of a little girl who knocked all odds out of her way and, at 7 years of age, is an example of the need for hope!

The Pacific National Exhibition is on and Emmett went to explore the sites and sounds on the 26th. Time to create some family memories. While they have been advised to avoid crowded places, they were also advised that they cannot live their life in a bubble and that they must carry on and experience memories. As you can see in the candid shot, Emmett was thrilled to be at the exhibition. Alisha was also introducing a bottle to Emmett. Since feeding is one of the challenges that babies with SMA 1 have, there was concern that breast feeding may be limited in the future and alternate methods considered. Some more physically invasive like a surgically implanted gastric tube. Also, some of the testing required the skill of sucking a bottle - which Emmett has not experienced. This caused some frustration for Emmett, for while he loves his soother, he did not appreciate the bottle.

Back in Vancouver on the 27th for the sucking and feeding test, part 1, Emmett passed with flying colours. While the near future holds another test, there was a celebration that Emmett's immense sucking power (I am sure we could pick him up by his soother and carry him around!) and capable swallowing meant that he was not at immediate risk of aspirating food. This is huge with an illness that has a serious impact upon breathing and swallowing.

Meanwhile, Emmett's house is bouncing with family and friends. A couple of Grandma's eagerly waiting to hold him. An Aunt from one side and an Uncle from the other. Many of Josh's family are in B.C., so he's had the opportunity to see many great Aunts and Uncles. Even his Great-Grandparents. A great Aunt/great Aunt and Uncle from Ontario have been out to visit. And just prior to the diagnosis Emmett had a chance to visit his Aunt and Uncle in Calgary during a road trip. This photo is classic Emmett! Personally, I think this look is a cry out for his grandpa in Ontario to come and see him!

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Emmett's Story

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. 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.

His Parents

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 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.

Emmett Jeremiah

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 doctor 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 it was followed by a trip to BC Children's Hospital  on Tuesday, August 18. It was there, 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 have a different kind of SMA than Emmett has.

Spinal Muscular Atrophy, Type 1

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 is the group of diseases that cause weakness of the muscles due to a genetic defect. 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 type 1 - most severe and the life expectancy is two years, exceptions maybe up to 4 years of age.
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.

References:

For more information, visit these links:

Cure SMA

Spinal Muscular Atrophy

Caring Choices: For Families Newly Diagnosed with SMA Type 1

Respiratory Care for SMA patients

BC Children's Hospital

 

Go to Emmett's Daily Weekly Thoughts.

 

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Thank You for this. Bob Colleen