The Edmons Family’s Story
We welcomed our first son, Reid, into the world in the spring of 2018. As any new parents would be, we were incredibly thankful for a healthy baby boy and a safe labor & delivery. We left the hospital early and were so excited to go home and start our life as a family of three. We received a call when Reid was just 8 days old that we needed to take him back to the hospital for another newborn screen. His results from the first newborn screen showed a few elevated levels, and they needed to make sure it was a false positive. We headed back to the hospital on a Saturday, and I honestly wasn’t very worried. I thought we would receive good news by the beginning of the next week.
Just three days later, a little after 9:00 AM in the morning, I received a phone call. I answered the call and a sweet voice was on the other end. It was Jody from the Community Health Clinic. She told me that the results of Reid’s second newborn screen showed he most likely had a rare disease called Galactosemia.
It took a long time for me to comprehend what she was saying and to learn how to say Galactosemia.
Jody informed me I needed to immediately stop breastfeeding Reid because breastmilk could possibly be damaging his organs. I was devastated. I was scared. I didn’t know what to do. My little 12 day old baby was hungry, and I was just told he had to start a strict 100% soy formula diet. My dream of breastfeeding my baby was stripped away in a moment, and I was so scared that breastfeeding Reid for almost two weeks could possibly have caused damage to his organs. I was instructed to bring Reid to the hospital as soon as possible to have a blood draw for genetic testing.
After getting Reid’s blood drawn, we were told it would take 10-14 days to receive the results of the genetic test and have a final diagnosis for Reid. A small part of me held on to the possibility of having two false positive tests, but a larger part of me knew we were just waiting for the confirmation of Reid having Galactosemia. The longest 14 days of my life passed. I don’t think I’ve ever cried or prayed as much in my life as I did those two weeks. Finally, the genetic test results came back, and Reid was diagnosed with Duarte Galactosemia at 26 days old.
Thankfully, Duarte Galactosemia is the more mild form of Galactosemia. Galactosemia is a metabolic disorder where the body doesn’t create enough of the GALT enzyme to break down galactose in the body. When galactose builds up in the body, it can cause severe damage to the organs and even death in babies with Classic Galactosemia. Babies with Classic Galactosemia produce less than 5% of the GALT enzyme needed to break down galactose, while babies with Duarte Galactosemia, like Reid, produce anywhere from 14%-25% of the GALT enzyme.
Although we were still devastated to find out our precious son had a rare metabolic disorder, we were very grateful it wasn’t the most severe form. I was able to start breastfeeding Reid again after pumping for two weeks straight, and Reid was able to tolerate a 50% breastmilk/50% soy formula diet. I was very thankful to still breastfeed Reid at least half of the time.
We can’t say enough amazing things about the staff at the Community Health Clinic. We had so many questions about Reid’s disorder, and they were incredibly patient at all of our visits and during the many phone calls I made during the first year of his life. The staff explained everything to us and helped us feel empowered as parents to take care of our baby and make sure we were giving him the best care that he needed to grow and thrive with his disorder. They taught us that galactose is found in the highest amount in dairy products, but it is also found in almost all foods including fruits and vegetables.
The CHC also helped my husband and I have genetic testing to find out that we are both carriers of Duarte Galactosemia. Duarte Galactosemia is a recessive disorder, so it requires both parents to give a mutated gene to a child for the child to have the disorder. Now we know the chance for any other children we might have in the future to also have Duarte Galactosemia and can be prepared.
We feel truly blessed to have experienced the outstanding care of the team at the Community Health Clinic. We are grateful for their thorough testing and recommendations for caring for Reid, and their continued support every year at his check-ups. We know we can always contact them and we always have their support.