“Super Bowl Sunday 2017—Diagnosis Day” – Erin
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,
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
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