Gilbert’s Story

When my husband and I found out we were having a baby boy, our initial surprise quickly turned to worry. The midwives I was seeing at the hospital were concerned about the possibility of congenital heart disease with a male pregnancy because I had an older brother, Ben, who had died from complications with endocardial fibroelastosis (EFE) when he was almost one year old. I had three fetal echocardiograms during the pregnancy, but the only thing they saw was trivial tricuspid regurgitation. The doctors reassured me that it would likely resolve on its own and we could do a follow up echo if needed once our baby was born.

Gilbert was born full term with no complications on Christmas Eve. He was very alert right away and made lots of chirps and noises, so we chose the name Gilbert because it means “bright pledge.” A few minutes after birth, the nurses put him under the heat lamps because he was struggling to maintain his temperature. After he warmed up, they triple swaddled him and sent us to our new room. The first night was calm–Gilbert didn’t really breastfeed for more than a few minutes, but the nurses reassured me that sometimes newborns did this.

The next day, Gilbert was still not eating very much and he was struggling with a low body temperature. One of the nurses checked his glucose level and it was at 11. We were admitted to the NICU at the hospital and spent Christmas night watching the nurses place an IV in Gilbert’s tiny veins in order to give him a glucose bolus.

Over the next three days, the doctors worked to stabilize his glucose levels and decided to do the follow up echo. It was then they discovered that Gilbert was in heart failure with severe LV dysfunction. On December 28, Gilbert was airlifted to the cardiac intensive care unit at Children’s Hospital Colorado. After 24 hours in the intensive care unit we received a diagnosis of LV non-compaction and dilated cardiomyopathy. Gilbert seemed stable enough to move to the progressive care unit. However, that night he threw up blood and we discovered he had pneumatosis (inflammation of the gut). He was transferred back to the intensive care unit and got a tunneled central line in order to give him a 7 day course of antibiotics for the pneumatosis and milrinone to stabilize his heart function. After some episodes of high lactates and getting the results from his genetic tests, we received his Barth syndrome diagnosis when he was 16 days old.

The first time we saw our cardiologist look relieved was when she told us that even though Barth syndrome was very rare and very serious, there was a treatment available and it was hopefully going to get FDA approval at the end of the month. We applied for emergency access and Gilbert started his first dose of elamipretide at 28 days old. We stayed at Children’s Hospital for a total of 80 days while he gained weight and strength.

There is no doubt in our mind that elamipretide saved Gilbert’s life. Before elamipretide took its full effect, Gilbert barely had the energy to eat more than a 20 mL bottle and he would have to take frequent breaks throughout the feed. He was in the 0.2 percentile for weight and he required a nasal feeding tube. Now, after over 160 days on elamipretide, Gilbert is in the 31.6 percentile for weight and he is able to breastfeed—something he didn’t have the strength for before. He has plenty of energy to play with his sisters and we constantly marvel at his elbow dimples, chunky thighs, and wrist rolls. Every day we are at home we get to make up for all the things we didn’t get to do with him while he was in the hospital—we get to snuggle him and do skin to skin after his bath and take him outside to look at trees and listen to birds chirping in the backyard.

Without FDA approval of elamipretide we are afraid we will be back in the cardiac unit before long. Gilbert needs elamipretide, and every patient with Barth syndrome deserves the opportunity to access this life saving drug. We feel so fortunate to have a medicine that helps, but we need the FDA to act now. The only thing worse than being told your child has a rare, fatal condition is being told there is treatment that works, but they can’t have it.

Pictures of Gilbert in heart failure before elamipretide:

Pictures of Gilbert after being on elamipretide: