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Lucas and I recently gave a speech at Stanford for the Association of Auxiliaries for Children. The association raised about $4,800,000 for Lucile Packard Children’s Hospital Stanford. They donate blankets, quilts, distribute food, read to children, and volunteer many hours of their time. Luke’s doctor spoke about mitochondrial diseases. We were asked to join him to add a family’s perspective on what the hospital does.
Unfortunately there isn’t a video of my speech, but the full text can be read below:
When someone asks a parent what they want for their child, the answer is greatness. They want them to go to an amazing college and then become a CEO, doctor, or lawyer. An extraordinary life is the goal. We were like all other parents.
Luke was born at 1 a.m. on a Tuesday morning. His 6 year old brother and 9 year old sister were so excited to have a new baby and I couldn’t wait to get home so we could all be together. On Wednesday afternoon we left the hospital even though my husband was worried because Luke had yet to open his eyes. We were assured that it was normal. For 2 and a half days, we were a normal family. One phone call changed all that.
On Thursday at about 5, we got a call from the doctor saying that Lucas had a positive newborn screen. He said that additional testing was needed. That night we were sent to our local ER for blood work . A doctor came in, said that Luke had a genetic disorder, and he would be transferred to Stanford. Soon nurses arrived and got him ready for transfer, they worked with such efficiency that my husband called them the nursing SWAT team.
We arrived at Stanford at 1 a.m. We were completely overwhelmed and distraught. We were whisked out of the NICU and sent to a conference room to get a little sleep. About 9, we met Dr. Enns. He was very reassuring and we had full confidence in him. After we spoke with him, we saw our baby and were taken aback by all the wires and tubes. I noticed the wonderful handmade quilt he was on and was touched that someone had made it for him. It was a long hard day. At 4, we met with Dr. Enns again. This was the first time we heard the term cobalamin C deficiency. He explained metabolic pathways and what was happening to our newborn. It was the scariest, saddest, worst day of my life. I heard very little and understood even less. Our normal life was shattered!
For 8 days, Luke was in the NICU. Every morning, we rushed from San Ramon to the hospital to be there for rounds every morning. The doctors included us and kept us informed. Finally on his 5th day in the hospital he opened his eyes. It was worth the wait to see those amazing eyes! His labs improved markedly and the doctors started to talk about discharge. Before he could go home, we had to be able to give him his injections. I was pretty sure he would be in the NICU until he was 40! But with the help of very patient nurses, we learned to do it and were sent home with our baby for a second time.
Luke was an amazing baby, sweet, funny, happy. I was nervous but he thrived. He was a little behind sitting and crawling but with therapy, he caught right up. We didn’t take a single milestone for granted. At every metabolic appointment, Luke was treated like a rockstar! His labs were great because of the amazing care he got and continues to receive. He is 4 and has a language delay and some vision issues but otherwise he is an average kid. He wrestles with his best friend, bosses his siblings around, and enjoys life!
I have become active in a support group for MMA families. I always feel incredibly blessed that Luke gets some of the best care in the country when I hear some of the horror stories other parents tell. Because of expanded newborn screen and amazing metabolic care, Luke is doing remarkably well.
I want to thank Dr. Enns, the metabolic team, and Lucille Packard Children’s Hospital for giving us the extraordinary gift of a normal life.
Blog posts are written by both Save Babies Through Screening Foundation representatives and others not officially affiliated with the foundation. Posts do not necessarily reflect the views of SBTS. Posts are not medical advice. Please talk to your physician.