It has been brought to my attention that there are people out there have been checking back for updates, and I have not updatedhis blog in two months. There is much to talk about so I will do my best to pick up where I left off and to include as much detail as possible.  Life with Ren is a 24 hour a day experience, so much has happened, but I will do my best to not miss anything important. Let’s start with what our life looks like at home these days.

After no less than 40 different nurses and therapists that have come and gone, we have finally established a dream team of caregivers for Ren. Ren currently has has an occupational therapist, speech therapist, feeding specialist, and a physical therapist that all see him at least twice a week. Most are home visits, but some are outside the home whcih require us to take Ren in, often times at 7AM (due to no availabilty during business hours, but willinginess to see us bc of some strings pulled by a certain nurse; more on that individual later.) We also have been fortunate to have 2 primary nurses with not only the clinical experience necessary to insure Ren’s safety, but his opportunity to thrive as well. In addition to these two amazing women that account for most of Ren’s week, we have also found a few unbelievable nurses that pick up those shifts when our primaries have to admit they are human, and limit their hours to 50-60 hours a week. I cannot begin to express how grateful we are for these professionals that have become part of our family, and their love for and belief in Ren. What started as a hopeless pursuit of support, has become a blessing that I can’t figure out how we made it through our days before these women showed up in their capes.

So what about Ren? Once we had a diagnosis, we went to work finding out everything there is to know about RYR1, as well as reaching out to doctors all over the world. It wasn’t long before things were moving at full speed with the development of a treatment plan for Ren; at one point, we found ourselves surrounded by Ren’s local team of doctors, being asked if we would be willing to give a presentation to all of their doctors about RYR1. Although this was flattering, it certainly wasn’t reassuring when it came to intrusting Ren’s care to these very people. That is where our efforts to make contact with doctors and familes throughout the world come in to play.

I was asked by a doctor in Baltimore if I would like to be put in contact with a little boy’s father in London that presented very similarly to Ren. Of course I did and eventually made contact with an amazing family in London that shared a spooky number of details with our story. For the sake of this blog and his anonymity, I will call the boy Leo. Leo was born in a very similar way to Ren and had an almost identical presentation, physically and clinically. Leo did not move until he was 4 months old, at which time he finally moved his head 1cm. During a 2 hour Skype with Leo’s father, I learned much about what worked, what didm;t work, and more about RYR1 than I already knew. I also learned that Leo is currently 2 years old and walking. This information offered an unparalleled hope and belief in Ren’s outlook. This is where I need to veer off to an earlier time to set the scene.

Remember the neurologist that examined Ren on day 2 of life and stated in a very matter of fact way that, “it’s a standard case of SMA?”A few weeks ago our amzing night nurse showed up and encouraged us to get out of the house for a bit, as we rarely get the chance, and she is one of the few people that can be alone with Ren. We didn’t put up a fight and headed out at 11PM to a neighborhood bar to get a couple of beers and play some skeeball. Eventually, we ended up sitting on a couch, watching a band and just enjoying a fleeting moment of normalcy. While we we sitting, Devona couldn’t take her eyes off of a guy sitting near us and eventually asked me, “Do we know that guy?” I glanced over and quickly replied, “No, we don’t.” As she does, Devona persisted  and I took another look. “Yes,” I said “We know that guy.” It was the neurologist that informed us and every other doctor around Ren that he had SMA and was a hopeless case. Of course, me being me, I waited for him to get up to go to the bar and I followed him. “Do you recognize me?” I asked. Not surprisingly, he did not. I quickly explained who I was and why I felt the urge to say something to him. I wanted him to know that despite our pleas to consider other diagnosises (since we had already been tested for SMA and knew that we were dealing with something else) he insisted that it was SMA and put all the doctors on the wrong trail when it came to finding a diagnosis for Ren. It wasn’t long before this doctor was shocked by our advocacy, education, and determination to get Ren the best, most informed care that the world has to offer. By the end of the conversation, including and a few pictures and video clips of Ren, this doctor was grateful for our encounter. “This will help me be a better doctor,” he told me. “Austin is a small town and I will undoubtedly see you again. Next time, make sure you are on the right side of history with my son,” I told him as we parted ways. Why is this important you ask? Let’s get back to Leo and the Skype conversation I was having with his dad.

Leo’s dad had one last thing to tell me before we ended our call that night. He told me that there was a drug trial going on in Washington DC for something called NAC, on RYR1 patients. I was fully aware of this trial but Ren was not eligible bc the minimum again is 7 years old. He explained to me that when his son was 6 months old, he had come across research for this drug nd RYR1 and pursuaded Leo’s neurologist to cut red tape and get his this drug on “compassion grounds.” This NAC, isn’t a new drug and has been used for 40 years for other things, but is just now being tested in the RYR1 world. Overnight, Leo began to move his arms and legs once this drug was introduced. Leo’s father explained to me that if I wanted to try this (you have to remember that there isn’t another child in the world that presents so similarly to Ren and shares his phenotype, so you can understand our curiosity) I would have to find a neurologist (some of the smartest people in the world) to listen to me and put stock in my theory that NAC could help my son. I simply replied, “I just happen happen to know someone in that world that owes me, big time.” The next day, I made an appointment with the same neurologist that had broken our hearts and shattered out hopes months earlier, because I felt like the universe had steered me right to the person that I resented the most.

I promised that I would update tonight, and promise to continue to, but I am going to enjoy so quiet time with my wife while we have the chance, and will pick up here tomorrow. I did not proofread anything so I apologize for typos and grammatical errors.