At almost 37 weeks, my beautiful, healthy baby decided to make his entrance into this world. He was perfect in every way possible, to include all of his newborn assessments and evaluations. Aside from a little difficulty learning to breastfeed and some low body temperatures, he was doing everything a newborn baby should do.
At 8 weeks, Bryce had his first seizure. At the time, we weren’t sure what they were but after a call to his pediatrician we packed him up and took him to the ER. This is where our nightmare began. After multiple tests were taken and Bryce had his second seizure he was transported to Palm Beach Childrens’ Hospital by ambulance for a week’s admission where Bryce would undergo test after test. Eventually we were released with very little answers and Bryce was put on an anti-seizure medication and to follow-up with the neurologist.
The weeks that followed were filled with MRIs, EEGs, blood work, catheters for urine screens, 7 spinal taps, genetic appointments, neurology appointments, physical therapy, occupational therapy and a total of 8 hospital stays over the course of 4 months. He began regressing developmentally and stopped bearing weight on his legs all together. He stopped lifting himself up for tummy time, he stopped holding his head up, he began smiling less and less.
Finally, on July 6th, at 6 months old, Bryce was officially diagnosed with the rare terminal genetic disorder called Menkes. Our family was in shock and completely devastated when we were told that Bryce may not make it to his third birthday. With this disease, Bryce is unable to absorb copper. Copper is an essential mineral and without it, there can be severe disabilities, seizures, and death before the age of 10. We also learned that if it had been caught in the first 10 days of his life, we may be writing a different story with a much better prognosis. However, with no family history and no routine testing it was not caught until Bryce was already way into showing symptoms of the disease.
Bryce has been and continues to be such a joy and blessing to our family. We will enjoy and love on him as much as possible and will always pray for a miracle. He is so loved and such a happy baby and we're grateful for each and everyday that God allows us to spend with him.