The Sauer Family’s Story

Our son Aaron was born on April 1, 2019. He is our second child, and we had a typical pregnancy with both children. His sister was beyond excited to meet him, so we had her, and our parents come back almost immediately after birth to love on Aaron. Quiet hours at the hospital were about to begin so we were able to do a quick meet and then they left. Shortly after feeding him, his hands, feet and face began to turn blue. His dad ran him to the nurse’s station; they checked his oxygen levels and immediately took him to the nursery. They kept him back there for over an hour as we waited for an update. When the pediatrician came in, she let us know that Aaron was doing fine, but she had a few concerns. Her main concern, she told us she believed he had a few physical traits indicative of Down Syndrome. We were in shock and disbelief. She sent off blood work and we would get the genetic testing results back within the week. That week was one of the longest weeks of our lives. Finally, the test came back and showed no abnormalities on his chromosomes. We figured our story stopped there.

Over the next few weeks, Aaron continually had “choking” spells when he would eat or swallow. For others it was quite terrifying to watch. For us, it had become normal. It would happen often and without warning. During this time, we had changed pediatricians and one of the amazing PAs at the office was certain that Aaron had reflux. We had tried swapping every formula we could think of and we had him on several medications to control it, but it didn’t stop. He was also constantly congested and there was nothing we could give him to help due to his age. We decided to try an over-the-counter medication one weekend and by Monday morning Aaron had broken out in a rash over his entire body. We immediately took him to the doctor where we met the new Pediatrician for the first time. When he examined Aaron, he agreed with us that his symptoms were not typical of just reflux and referred us to see an ENT. Aaron was just 3 months old at this time. We had performed several swallow studies over the next few months where it was determined that Aaron had unspecified dysphasia. At 6 months, he had his first surgery to place tubes in his ears. The ENT asked to scope further down while he was under to see if she could find anything else. Sure enough, she found a Type 1 Laryngeal Cleft and performed an injection as a temporary fix. From 6 months to 14 months Aaron constantly had drainage from his tubes; he also had a sleep study that showed he had obstructive sleep apnea. After further discussion with his doctor, it was recommended that we replace the tubes and take out his adenoids. We requested an MRI as we were not seeing the developmental milestones typical of his age. There were a few indicators from the MRI which raised some concerns. It was requested that we have a chromosomal array testing done. As we had already done testing at birth, we were certain that there would be nothing found.

There are a few days in our lives that stand out so much more from the others. September 3, 2020 will be a day that lives in our minds so clearly. That is the day we received Aaron’s diagnosis of Smith-Magenis Syndrome (SMS). The future that we saw so clearly in our minds was shattered. Over the next few weeks, as we delved more into the world of SMS and all that it is, we were crushed. This disorder changes everything we had hoped and planned for ours and our children’s futures. The light we had shining was now dim. We accepted that this future was ours and we would somehow make the best of it.

In May (2021) we happened to stumble across a video shared by another SMS mom. The video talked about a research foundation we hadn’t heard of. The video mentioned gene therapy, CRISPR technology and finding medications. When we found this video, we dove fast and deep into everything this foundation represents. The SMS Research Foundation means Hope for our family. Hope that one day we may find a way to actually help Aaron and not just adapt to his behaviors. Hope that his future could be just like his sisters. Hope that he can one day lead a “normal” life and hope that we may be able to help others in our situation. We couldn’t be more thrilled to participate and support this amazing foundation. We will be forever thankful for the research they are doing and are blessed to be a part of it.