Jack was born on Thursday, December 28th, 2006, at 5:49pm at 6 pounds, 15 oz and 19-inches long.

Since his early days, Jack had a lot of trouble breastfeeding. He just never seemed to be coordinated enough to latch on. Sometimes, he would latch on, start sucking, but then glaze over and stop or seem to fall asleep. We were frustrated, but we just kept trying to help him “stay awake” and start over.

At his second or third month, we noticed that he wasn’t quite keeping up with his developmental goals. He didn’t have the energy and movement that other kids his age had. However, we reaffirmed for ourselves that all kids develop at different stages and that we weren’t going to panic over the little things.

May 9, at like 1am, we found Jack whimpering and unable to move. We rushed him to ER where they took blood tests, but by the time the test results came back, he was fine. In agreement with the ER doctor, we returned home.

May 10th, again about 1am, Jack had terrible difficulty breathing and was like a rag doll. We again rushed him to ER. A nurse noticed a slight twitch in Jack’s face. She reported it to the doctor. Educating us that this was a sign of a seizure, he ordered a CT-Scan, discovered a white mass on the right side of his brain and then transferred us to Phoenix Children’s Hospital.

Attached to an EEG machine, his neurologist observed that Jack was suffering from almost constant seizures. Once one would end, another (usually sub-clinical) would begin, although they neither knew why, nor what the strange white brain mass was.

In total, Jack went through one CT scan, five MRI’s of his head, multiple EEG’s (including one three-day period), two lumbar punctures, two PET scans and one brain biopsy which concluded in no diagnosis. One PET scan suggested a brain tumor while the other (taken on the same day) suggested no brain tumor, but just old-damaged tissue—potentially from in utero. The early MRI’s suggested an infectious disease, so Jack was being given anti-viral medication, but later MRI’s suggested no change in the brain mass and therefore, no disease. The EEG suggested seizures originating from not just the brain mass side of the brain, but mysteriously from the left hemisphere as well. The lumbar punctures and other blood work and cultures produced no results. Following the brain biopsy, pathologists initially suggested that it was Cortical Dysplasia, a benign brain tumor which occurs when the infant is developing in the womb. However, final analysis determined only Cortical Gliosis (ie, old scar tissue) and, therefore, no new information.

It wasn’t until July 16th (still in 2007) that our neurologist noticed a change. While Jack was in the hospital, he was bald. Over the last six weeks since we left the hospital, Jack’s hair began to grow and had a twisted, kinky quality to it. He ordered blood tests. On July 26th, we were informed that Jack had Menkes, based on his serum copper and ceruloplasmin. Part of the difficulty was that Jack’s manifestation of Menkes (the white mass in particular) is a rare occurrence. Our neurologist had actually worked with other Menkes kids and with Dr. Kaler in the past, but had not seen anything like Jack’s case. Only later did he find one other child in another country who had a similar manifestation/diagnosis.

On September 21, 2007, Jack's lab results returned confirming that Jack definitively has Menkes and on October 30, 2007, Katherine's lab results confirmed that Katherine is also a carrier of Menkes.

Jack absolutely loves his bed and loves to hang out in it by himself, listening to his own voice. If we walk up to him and he’s not ready to get up and out of bed, he’ll close his eyes and pretend to be asleep until we walk away. Then, he’ll open his eyes again and go right back to lightly cooing. He also loves his bean bag chairs and riding around the neighborhood in his stroller with his puppies in tow behind him.

We now consider our primary job to be taking care of Jack, loving him as much as we are capable, and learning as much as we can from him while he’s with us.

Anthony, Katherine, Jack and the puppies (Sophie, Bailey & Pecas)