Super Bowl Sunday marks two years since we officially received Cadman’s diagnosis. It was so strange answering an unexpected phone call from the neurologist while watching the Super Bowl, and immediately concerning. Just a couple of weeks prior, we also found out that I was pregnant with our second child, Emma, who is now 16 months old and the most delightful addition to our family. My husband Dan and I had been seeking answers for some unexplained concerning issues going on with Cadman for almost a year, and finally, the answer was found through the Whole Exome genetic test which the neurologist reluctantly ordered. The test results came in that Sunday a few months after Dan, Cadman and I did the blood work at Rady Children’s Hospital in San Diego, and the neurologist wasted no time in reaching out to inform us of the very unexpected results. It was an expensive test and one that apparently doctors don’t usually order until lots and lots of other tests have been completed and provided no answers.
When we first learned about the Whole Exome test from the neurologist, I was getting pretty frustrated with the seemingly endless testing and specialist visits, not to mention switching pediatricians multiple times to find one who would actually listen to our concerns and help point us in the right direction. Our sweet little Cadman was 19 months old and had already been through an MRI under general anesthesia, an EMG, and quite a few blood tests—none of which is very pleasant with a toddler, especially an 18-month-old toddler who doesn’t walk and wants to crawl all over the germ-covered floors of doctors’ offices and labs.
It was in October when we started discussing the test with the doctor, and our insurance deductible was met (see above list of medical tests and appointments). We had some sort of magical insurance plan that basically covered everything 100% after the deductible was met, something that no longer seems to exist, and I was feeling very motivated to get all testing done NOW. I was getting tired of getting normal test results back and then being told, “Ok, those were all normal so the next test we can order is…” and it was pretty frustrating knowing that there seemed to be an endless list of tests the doctors could order but were only doing in small chunks, and meanwhile, I had to take my child to get his blood drawn each time we reached a new phase of testing. I was done. So thankfully she agreed to move forward and ordered the Whole Exome. Of course, I was hoping this would also come back with normal results, but on Super Bowl Sunday, we found out that the Whole Exome test came up with a diagnosis. A de novo genetic mutation of the SLC6A8 gene—Creatine Transporter Deficiency (CTD). This explained all of the symptoms we were worried about but so far were pieces of a puzzle that weren’t fitting together: global delays, seizures, low weight/low muscle tone.
Dan and I fairly quickly found ourselves on the website for the Association of Creatine Deficiencies (ACD) and browsing this blog. To be honest, I was completely overwhelmed reading some of the blog articles about life with older children with CTD, and while I was glad to know there was a community and people focused on this disorder, and some promising research underway, I was heartbroken and devastated by the word I kept seeing all over the internet regarding CTD: “untreatable.” One glimmer of hope was finding out that the doctor we had an appointment with the next morning (the Monday after Super Bowl Sunday), Dr. Bruce Barshop, was listed on the Medical Advisory Board for the ACD. This appointment was booked months prior just to basically check another specialist off the list. Thankfully we only had to wait for one rather sleepless night before seeing Dr. Barshop. He was like this bright light of hope and relief when we met him that morning, and he immediately met Cadman and said, “He looks great! I was expecting a child in much worse condition after reading about him on paper.” He proceeded to tell us that while there is no official treatment, there is a chance that creatine supplements could benefit Cadman. That sounded a whole lot better than “untreatable.”
This pleasantly surprised reaction has been an ongoing theme with Cadman. People (therapists, doctors, teachers, etc.) will become familiar with him based on his diagnosis and medical reports, and then when they actually meet him in person they are delighted and impressed with his abilities and wonderfully loving, joyful spirit, and his ability and desire to connect with people in his own meaningful ways. Not to mention his fun and sharp sense of humor and contagious happy laugh.
Though I pray, hope and dream of treatments and miracles that will help Cadman grow into the best Cadman he can be and live the most fulfilling, happy life possible, at this moment I wouldn’t change him for the world and I love everything about the 3 (almost 4)-year-old boy he is. Sometimes I wish he was more like other kids and could blend in and do all the things other children his age do, but I know he is the way he is for a purpose, and somehow deep in my heart, I understand that I was designed and prepared for this role of being Cadman’s mom. While I often doubt myself and my decisions and abilities as his mom and all the responsibility that entails, I do know that no one could do it better than me and thankfully I have the best friends and husband in the world who remind me of that regularly. I wish Cadman could speak to us about his wishes, fears, likes and dislikes, and whatever other wonderful thoughts are going on in his beautiful head. But today he is good, we are good, and he is able to say and do so much without words thanks to his expressive eyes, gesturing/sign language, PECS and accessible communication technology that is starting to click for him. Cadman has turned my world view upside down by showing this communications and public relations professional that words and intellect are overrated and not necessary to be able to make a huge impact in this world and do what matters most—love and bring joy to all those blessed enough to know our amazing Cadman.