In the early hours of March 22nd 2013, Liam Alexander Sneed was born. Like most newborns he was poked and prodded in all the normal ways. He let loose a giant yawn and fell asleep as they tested his reflexes and made sure he could breathe. The staff wrapped him in a blanket, handed him to me, and all was right with the world.
When we finally got into our room alone with Liam, we started noticing peculiarities with him. For one, his hair was so odd. I remember thinking it looked like a Brillo Pad. It was so rough and scratchy and curly. We joked about it and wracked our brains to think of a relative who had such extremely curly hair. We asked the nurse about its strange texture, and she assured us that she had seen babies with hair like that – nothing to worry about. He was also so wrinkly. I called him Mr. Magoo for days after his birth. No worries, the nurse would assure us, plenty of babies need fattening up. He’s going to fill out. One thing that couldn’t be laughed off though was his body temperature.
The hospital room was set at 73 degrees, and Liam just couldn’t handle it. He wore two hats, mittens, double socks, and was wrapped in 2 blankets at all times and was still going hypothermic. They took him away for hours at a time and put him under a heater to get him warm. When he would come back, his temperature would drop again. They put him on antibiotics, they tried heaters, and nothing helped. After 4 days in the hospital, the nurse came in with a surprise. The transport was here to take Liam to Women’s and Children’s Hospital in Lafayette, but not to worry because they had some of the very best NICU doctors in the state.
With a recently operated on wife and haphazardly packed luggage, we followed the transport with not so much as a clue what was wrong with our boy. Our arrival marked the start of one of the most exhausting weeks of our lives. When we were not in the NICU we were in the hotel trying to get some rest. After seemingly hundreds of tests, our doctor handed me a paper with her diagnosis (although now I realize that it was just her best guess) – Progeria. She said that she scheduled a meeting with a geneticist in July, and that we should just go home, enjoy the time we have with Liam, and pray.
My wife and I would not stand for this. We went online and researched every combination of symptoms that we could think of. The hardest part was trying to determine what the symptoms were after being told not to worry about them. We finally narrowed it down to these things: his hair, his wrinkly and “doughy” skin, jaundice, and his low body temperature. With these symptoms, we finally found Menkes. There are no adequate words to describe the feeling that overcomes you when reading about this disease for the first time and knowing in your heart that your son has it.
I read so much about the prognosis that I almost gave up right then and there. One article in particular I remember vividly said that the shots were painful, and really did nothing to help the child. I called my mother to tell her that there was no hope, and that Liam would die in three years at the very best. Luckily my wife is stubborn, and can pull me back to my senses. Before all of this, I would have never called a doctor personally. I always assumed that you needed to have a referral and an appointment and call a receptionist. We tried anyway. We found a geneticist in New Orleans who specifically deals with OHS and Menkes, and I called her that day. She cleared an appointment for us, and got us in touch with Dr. Kaler at the NIH. Within 2 days day we were on a plane to Maryland. His first injection of copper was on May 6th, 2013 and the rest is history.
Liam is now 2 and a half and is talking up a storm. He crawls, walks with support, knows his letters, numbers and shapes, and can work an iPad better than most people. He has the cognitive abilities of a 3 year old and is working on walking independently. It is hard to think of what life would have been like for Liam if we would have given up or if we would have listened to that doctor. Thanks to our perseverance, Dr. Kaler, and the many boys before Liam, we have a happy, thriving little boy. We never take for granted that we are one of the “lucky” families that is beating this disease. We are forever grateful to the families before us that shared their stories to raise awareness so that we could one day find them when we needed them most. We are always available to anyone who might need us and can be reached at firstname.lastname@example.org.
Skotti and Jacob Sneed
Posted: November, 2015