On November 6, 2015 we mentioned to our Pediatrician that our daughter had been having abnormal episodes where she would take in a sharp sudden gasp of air and seem to lose her balance. These were starting to occur regularly and while they weren’t noticeable to anyone else, we were starting to notice them more and more. Only after we pointed them out to others did they start to notice. While the Pediatrician thought that it could be just a typical developmental tic, she referred us to a Neurologist, which we were able to get in and see that day.
The Neurologist did not think it was anything specific, just a weird developmental tic. However, he did ask us to do an EEG. Those results showed two different sparks, a generalized one and a localized one, but nothing to conclusively diagnose, so we had an MRI done. The MRI found patchy white matter in her brain. A follow up MRI showed that the patchy white matter hadn’t changed and was basically just her finger print and allowed the Neurologist to conclude that it was not a structural issue. Then, as another follow up test, our daughter had her EMU study for two days. On February 27, 2016, the Epileptologist at Denver Health, after a lot of emotional and outright frightening back and forth on the diagnosis, finally determined she had Epilepsy which caused her myoclonic seizures. She then tried two medications that did not have any impact. After a lot of back and forth with the Neurologist, he finally recommended her to Children’s Hospital.
On May 5, 2016 we finally saw the Epileptologist at Children’s Hospital and she was put on new medications and scheduled for every test from and EKG to vision, to a spinal tap. There are a couple of times where she has a few indicators of specific conditions, such as Mitochondrial Disease and GLUT1, but these are ruled out with further tests. After a lot of back and forth with the insurance company for denying the genetic testing, we finally pay for it out of pocket and receive the great news that it is all negative. She won’t pass this along to her children. So, we continue with tests to find the cause.
Even though all of this can be summed up in a few paragraphs, the amount of stress, mental and emotion anguish that went along with those nine months can never be summed up, no matter how many paragraphs. For the first time in our lives, we weren’t lucky. We had no control over what was happening and we couldn’t make it better or go away. The feeling of helplessness every time she had a seizure would overwhelm us some days. She would have a day with only one or two seizures, and we would get so hopeful. The next day, she would have over 15 and it would feel like our world had crashed down around us. There was no way to not put all of our eggs in her basket every day, no matter how many times they were broken.
