Daily/Weekly Thoughts

Reality Can Be Harsh!

On our journey of finding out more about this genetic disease called Spinal Muscular Atrophy, we have found on FaceBook and other sources inspirational success stories of youngsters who have beaten the odds and are in University - and that is without the amazing drug, Nusinersen, that Emmett is receiving. At the same time, our journey has placed us beside others who have little ones have not been able to survive this disease which literally shuts down the nerves in the spinal column and causes all muscles to atrophy (stop working). That's bad when it's your arms, hands, and legs. Terrifying when it involves the ability to swallow and breathe. That is a challenging part of this journey; seeing parents and families grief-stricken as their cherished little one has moved on from this life to the next. And that is hard. Very hard. It simply isn't fair. Watching little ones struggle with overwhelming physical challenges and knowing that the best scenario is a life dependent upon others for basic necessities will be a fact of life. It simply isn't fair.

Not fair. Just like we ask why our little Emmett had to be born with this most challenging genetic disease, we have asked why many times. Why - the question that cannot be answered. Another question is why didn't everyone in the drug trial for Nusinersen get the real drug. Again, there isn't an easy answer. Sure, the question may scientifically be easy to answer. After all, it's a scientific study and that is what happens in studies ... but does that make it fair! But not when the drug is working yet other little ones were getting the placebo. Then it is a horrible reality! And obviously that happened. What we can say is that because of the kids (and their parents) around the globe involved in this trial and showing how successful it has been, this trial resulted in an earlier than anticipated wider release of the drug. No more placebo going out - the drug was simply too positive to be giving some little ones the placebo. Fantastic news. Of course, the next harsh reality will be getting the drug approved. And once approved what will it cost! Suggestions and speculation are that it will be extremely costly. What then?

Recently I was asked if it wasn't frustrating to be in a blind study when we didn't know if Emmett was getting the drug or not. If you've been reading from the beginning you know that initially, I (remember, I'm his grandpa) was against Emmett being in a drug study. I didn't want him to be put through the challenges and the unknown factors involved in the testing of a drug that was literally unknown. What kind of side effects? What would he have to endure? So many questions. I've said before, Alisha and Josh convinced us. Dr. Selby and her team convinced them. And the medical team at BC Childrens Hospital has been so amazing in their support. They are like family! 

Talking about family, his team of night nurses are also family. The care and love that they provide Emmett is something for which we are all so thankful to have. They are there for the mundane things like diaper changes through to the extreme moments (fortunately these don't happen very often) of ensuring that his airway is open. They help him by turning and repositioning him - which he literally cannot do on his own (have you ever woken up in the middle of the night and felt you couldn't move? That's Emmett!) - and, when he wakes up at night they read to him, sing to him, and pat him on the back. Of course, they follow his monitors - the oximeter, the bi-pap, the food pump. Suction as needed and change sheets if he's drooled so much that his face is almost a puddle. This team of awesome individuals is critical to Emmett's care - and his parents' peace of mind.

Another reality is we do not know what will be next for Emmett. We are optimistic about him speaking and looking forward to that. He's very communicative with his chattering, his eyes, his facial expressions, and his hands. He knows a couple of sign language phrases but he cannot control his fingers enough for most sign language. He's getting more movement - his physiotherapist and occupational therapist have observed this. Yet we want so much more movement. Obviously with time and more medication and more prayer there will be more changes. Alisha and Josh constantly work with Emmett on all of his skills. It's a task that goes on almost every moment that Emmett is awake. Questions. Will he be able to take food by mouth again? He mimics us when we're eating but that is such a challenging thought. He has to be suctioned for saliva - he's not ready to swallow food! Will he continue to gain strength in his arms and legs. Will his grasp develop even further? Will he start talking? Only time will tell. We keep praying! And working.

Back to the question about if it was frustrating to be involved in a blind drug trial. When Emmett was diagnosed his strength was declining at a very drastic rate. It was beyond alarming as in September 2015 and early October 2015 we were all terrified of what faced this fragile little one so when the only potential hope offered was an experimental drug study without knowing if he would get the drug or not - or if the drug would even work - with assurances from Dr. Selby that they, Alisha and Josh, were in the position of control with Emmett's procedures and could withdraw if they felt it was too challenging for him, they literally jumped for the opportunity. Parents do everything for their kids - that's just how it is. Emmett was stable but very weak when he began the trial. Between 4 and 6 months he lost a lot of movement. With the trial injections, we saw him showing signs of improvement. However, we also saw his respiratory system continue to drop over the first few weeks of the treatment. Small signs of improvement yet also signs that the disease was still taking more away from his tiny body. Yet, we were witnessing a miracle and while no one could tell us that Emmett was on the actual drug that first year,  as weeks turned to months we knew. (In fact, as Emmett is now in the second year of the study where we know he is getting the drug - we are still blind about the first year. We assume he was, but as the study Emmett is participating in has been extended we still do not know for certain about year one.) Improvement is an amazing adjective for a genetic disease that usually only gets to use adjectives like decline and, hopefully, stabilized. Up until now, improvement has simply not been used with little ones dealt the genetic cards that have given them Spinal Muscular Atrophy Type 1 (or Type 2, 3, or 4). SMA is the Number 1 genetic cause of death for a reason. It takes beautiful little babies away from their families. As our family saw Emmett improving, we had to deal with the grief and difficulty that other families were having as their little ones lost the battle with SMA. Words do not describe this difficult challenge. We simply thank them for supporting us as we sought to support them.

Unfortunately, that is the harsh reality of a drug trial. All of the parents knew the risk. All knew that their little ones had a significantly high risk of death without the trial - and this trial has now already resulted in many children now getting the drug. In fact, at least three older kids that Emmett has seen at Canuck Place will be getting Nusinersen, now called Spinraza, starting early in the new year. This is exciting. There is still much sadness, however, as in our FaceBook extended SMA family we read of little ones' deaths every week. Parents contacting us about the drug - some able to access it but others not. Excitement on one hand for friends getting the drug and sorrow for those do not. And then there are Emmett's friends who were in the trial but did not survive. Emmett didn't get to know them - none of them were strong enough for playdates, Emmett included - and that is so very sad. But at one time or another Emmett was at BC Childrens Hospital at the same time as they were. I don't recall if all four were ever there all at the same time - but I think it happened. We will tell Emmett about these friends of his - close friends that he never got to have over for playdates. The twin sister's Emma and Addison and the little boy from the Okanagan, Atticus! Obviously, we don't know any of the details - if it was because they got the placebo or if there were other complications. But we celebrate their lives and the fact that they helped bring this drug to the world. When we talk with Emmett about these three little angels, we will marvel about the similarities in their names. We will likely share some tears too.

Emma, Addison, and Atticus! You are heroes and we miss you. All of us supporting Emmett are thinking of each of you and your families.

We must cure SMA!


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