Living with the Wrong Diagnosis
By Ann Marie Jennison
My husband Jeff and I are college sweethearts. From the very beginning, we dreamed of having four children. Our first two kids, now 18 and 16, are active students in college and high school respectively. Our younger two children, Charlie age 11 and Jane age 7, came along a little later than “we had planned” but as our family grew, we remember feeling so incredibly blessed to finally have the family we had always dreamed about. We were elated!
Then came Charlie’s first birthday when a friend asked if Charlie was walking yet. I was quick to respond “No, in fact he’s not crawling yet, but everyone tells me not to worry because he won’t go to kindergarten not knowing how to walk”. Thankfully that friend spoke up and referred me to Regional Center who assessed Charlie. The day the results came back was the day our lives took on a new normal. We began the process of learning that our child was not reaching milestones and that our child needed help. Thus began years of therapy and doctor appointments, day in and day out. For years, therapists and doctors pointed out all the things that “were wrong” with Charlie, all of the things that he needed to improve. Finally at age 3, he was diagnosed with Mild Cerebral Palsy. We were told it was most likely due to him having a stroke in utero. A few months after his diagnosis, Jane was born. When she was 9 months old, we began to realize that she was developing almost exactly like Charlie did. Could it be that both children had a stroke in utero? That’s what we were told when two rounds of genetic testing from two renowned hospitals came back normal. Eventually Jane was also diagnosed with Mild Cerebral Palsy.
Have you ever felt like you were stuck in mud, army crawling through the sludge in darkness not knowing when you’ll ever see the light at the end of the tunnel? That’s what life was like for years. Why can’t we have playdates at the park? Why can’t our kids participate in activities like other kids? All the while, our intuition told us that it wasn’t really Cerebral Palsy. They displayed most of the characteristics of CP, yet their brain MRI’s were normal. We were already entrenched with every form of therapy we could find… horseback riding, acupuncture, physical, occupational, speech and even hyperbaric oxygen therapy. Charlie and Jane were progressing, but we were burning out. Time and money were stretched thin so we slowly began to believe that “it is what it is” and that someday, perhaps in heaven, we would find our answer.
The Night We Weren’t Expecting…
In 2013, we sat in the audience at the Global Genes Gala listening to a UCI Geneticist speak about how quickly science had changed and how a “new test” called Exome Sequencing had been used to diagnose siblings with a rare disease. We perked up and our curiosity was peaked once again. By the end of the event, we had connected with Dr. Virginia Kimonis from UCI and made plans to meet with her soon after the gala. Our appointment with her was a pivotal one. After learning about Exome Sequencing, we decided to send our blood to a genetic lab in Maryland to be tested, knowing that a definite answer was not guaranteed. After seven months of waiting for the results, we received the news in May 2014, that there is a name… there is an accurate diagnosis for Charlie and Jane. Charlie and Jane do not have Cerebral Palsy. What we learned is that Jeff and I both carry the same mutation in the N-Glycanase 1 gene and these genes were passed along to Charlie and Jane. Our Charlie and Jane have NGLY1 Deficiency. This causes them to have global development delays, it impacts their cognitive processing capabilities, they have hundreds of seizures each day, they don’t produce tears at a normal level, and they are at risk for liver abnormalities. Knowledge is power! Knowing the correct diagnosis has launched us into the world of rare disease. We have since connected, thanks to the Grace Science Foundation, with scientists and doctors who are working to find a treatment that will help Charlie and Jane, along with our NGLY1 Deficient friends, live healthy, long lives. Stay tuned for what life has been like since our kids have been diagnosed!