Sawyer was recently diagnosed with Pompe Disease. It’s a challenging disease and details are below if you would like to read them. Thanks to google, you can learn more about it as well. The good news is that in Denver there is a Physician who has cared for many Pompe patients and he has a dynamic team working with us and helping us navigate Sawyer’s (our) future. Thank you to our family and friends for your concern and reaching out to us. To keep you better informed, we decided to join this site. You can plan on frequent updates on Sawyer’s journey. . We welcome your encouraging words. Thank you so much for the love and support that we feel from you.
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For more information on the disease continue to read.
Although there was suspicion for some time, Sawyer was officially diagnosed with Pompe Disease during the first week of December. Pompe disease is a glycogen storage disease in which Sawyer's body is unable to process sugar in the way most people's bodies are. There are multiple types of Pompe disease. Sawyer's is considered Late Onset/Juvenile Pompe. Over time, this disease leads to progressive muscle weakness, elevated liver enzymes, cardiac issues, and eventually leads to respiratory failure. Unfortunately, Sawyer's disease has progressed much quicker than any of us had initially anticipated. His liver enzymes are elevated, although doctors are not concerned about that at this time, and his muscle weakness has progressed significantly. The biggest concern at this time is how much his breathing is being affected.
Leading up to his diagnosis in Denver he required oxygen via a nasal cannula 24/7. After his visit at National Jewish, one of the top respiratory hospitals in the nation, it was discovered that his CO2 (Carbon Dioxide) levels were much higher than they should be (a normal CO2 should be 35-45 and his was in the 80s). This is due to the fact that his respiratory muscles are too weak to stay open and push CO2 out during a normal expiratory breath. When the body is unable to get rid of CO2, it builds up in the body and causes the blood to become very acidic. When the blood becomes acidic, multiple organ systems are affected and it makes it very hard to think clearly. Doctors have said they think he may have been living with these CO2 levels for over a year. This just reaffirms what we already know, Sawyer is one tough guy! The doctors at National Jewish decided to start him on a form of BiPap with a super smart machine called the Trilogy. This machine essentially provides pressure to assist with his breathing, both inspiration and expiration. Being the Sawyer that we all know and love, he hates having to wear this machine, but it seems to be giving some slow improvement.
Due to his extremely high CO2 levels, Sawyer was admitted to the ICU at St. Joseph's hospital in Denver. Luckily for us, we are surrounded by some pretty special people here who are able to help us, bring us food, visit for coffee and support us in any way they can. Over the last few days in the ICU, his CO2 levels have dropped into the 60s, which we are counting as a small victory! Our ultimate goal is get Sawyer tolerating the Trilogy machine (it is very hard to get used to, it feels as though you are wearing a scuba mask) and get him home so we can celebrate Christmas together.
I (Zach, Sawyer's big brother), along with other family members plan to provide updates as often as I can as a way to streamline communication and alleviate the pressure on my parents to individually communicate with everyone we love. We have ordered bracelets in support of Sawyer's journey and they will be arriving in mid-December. Please let us know if you would like one. Our goal is to create a community of warriors in support of Sawyer and show him how much he is loved and how much we are fighting for him. We are so grateful for the prayers, thoughts, good juju, and whatever else people are sending our way.