Elvis-Undiagnosed (cerebellar ataxia)

In December of 2013 we noticed Elvis had begun to show some symptoms and regressing from where he was. His sense of balance was very compromised and he would fall from every position he would be in. He had been able to “scale” along furniture when walking, but suddenly stopped doing this. Even when we would try to help him walk and hold him up, he would cry and lift his legs up or simply sit down. Another thing we noticed was when he would wake up from a nap, he would shake his head from side to side. He would also have a lot of shaking in his torso a lot of the time. Being very concerned, we asked his Pediatrician, who gave us a referral to Pediatric Neurologist in the area.

Having to wait for Medi-Cal to approve the referral and get an appointment made, we saw the Neurologist the first week of January. Upon his initial check of Elvis, he could see that something was not right. He recommended for Elvis to be admitted to the hospital to run a battery of tests. About a week later Elvis was admitted, and stayed for the next 8 days and 8 nights.

During the week before he was admitted, Elvis began showing another symptom, he would tilt his head far back and forth, and look through the tops and bottoms of his eyes when looking at things. Our little guy got a lot of pokes and prods and much more. Elvis had EEG (for the brain), EKG (for the heart), full MRI, CT of head and abdomen, 2 LPs (spinal tap), MIBG (nuclear isotope trace to look for cancer), ultrasound of heart, and multiple blood & urine samples. The team of doctors working on Elvis initially suspected Neuroblastoma. Many thoughts ran through our minds with each test, wondering is this the one to find out what’s wrong with him. But with each negative test result, a sense of discouragement became stronger, feeling like we wont find something or this was all for nothing. At this point all the doctors were beginning to scratch their heads and rethink the game plan. We were discharged and sent home unrelieved. And I say unrelieved not because I wish something was found, but rather it was still unknown what was causing his symptoms. His neurologist suggested we start looking at genetic testing to see if this was all because of his genetics. We were given a handful of tests that his doctor wanted us to have performed. We contacted the lab that would be doing the tests to inquire about the process and costs. The tests themselves and the transporting of blood were quite simple. But the price tag attached was no laughing matter. The quote for all the tests was a little of 39k. Fortunately for us, we qualified for a “lower income” discount and would only be responsible for a little under 10k. This was a hard pill to swallow. Not having or knowing where the money would come from, I was scared as a father. Feeling that I could not protect and care for my child. But with some prayers and good thought, we had our answers.