Help Roman and Family Through Barth Syndrome

update: Roman had his ekg and echo today. His heart is dilated. Barth syndrome causes dilated cardiomyopathy. It doesn’t get better it only gets worse. It’s not a matter of if it’s a matter of when his heart fails and will need the new heart. They will give Roman heart medication to help keep his heart strong. That will only last so long and then he will need a heart transplant. Once he gets his new heart it will last around 15 years. Roman saved my life 2 years ago when I was deep into my addiction. He found me unconscious and ran to the neighbors to get help. Him and his brother got taken into foster care after this incident. I joined a program called drug court and worked my butt off to get them back home with me. They were my motivation and my purpose. They are the reason I have two years clean today and I am alive. He saved me and now it’s my turn to save him. I want to give him the best life I can. His life expectancy is 40. His skeletal myopathy is really getting to him. He is staring to get weaker and more fatigued. I hate to say it but I don’t know what his quality of life will look like in 5 years. I don’t want to work 6 days a week or worry about money. I hope that doesn’t sound selfish I’m just being honest. I want to spend as much time with him as I possibly can while he’s somewhat healthy still. I don’t want to look back and have any regrets. Roman has already been through so much in his short life. Help me help him have the best life possible while he still can.

Hi, my name is Zoey. I have 3 wonderful boys. My son Roman started getting sick often 6 months ago. They started taking his labs monthly, and his neutrophils and overall white blood cell count were dangerously low. Average people have 1,500-8,000 white blood cells. Roman's were consistently under 500. His pediatrician then sent us to see a specialist at the Cancer and Hematology Center at Mercy Children's Hospital in St. Louis. We were almost certain he had a rare blood disorder called cyclic neutropenia. We started him on GCSF injections that we give him 3 times a week. These injections make his bone marrow work extra hard to make more white blood cells. After waiting 3 long weeks, his genetic test came back. He has a very rare disease called Barth syndrome. Less than 300 cases worldwide. My other 2 boys also have a 50% chance of having it. Me and my other two boys got tested last week. In 2 weeks, we will have our genetic test back and know if they have it also. That one genetic test has flipped my life upside down. Barth syndrome causes heart issues, enlarged and weakened heart (dilated cardiomyopathy), weakness in the muscles (skeletal myopathy), immune system issues (neutropenia, low white blood count that leads to recurrent infections and mouth ulcers). It also affects his growth; he won’t grow much more until late puberty. The life expectancy is 40. Anyone who is a mother knows that’s a hard pill to swallow. Knowing I’ll outlive my child breaks my heart. Roman meets his cardiologist Friday, and we will get an echo and EKG to see how his heart is.

With all that being said, I have been trying to juggle working 6 days a week, doing all my requirements for drug court to make sure I graduate on time in February, and take care of 3 kids. I can’t do it anymore. Since Roman’s diagnosis, I have become so unreliable at work. With Roman's neutropenia, things take a turn fast. If he develops a fever, we have to go straight to the emergency room in St. Louis and they have to start ruling out infections. We never know what Roman’s weekly labs will be. One week it’s fine, and he can go to school, and the next week they are under 500, and he has to miss school all week. When he misses school, I have to try and find a sitter and pay for one. I feel terrible when I have to leave him with someone else while he’s so sick. I’m spreading myself too thin. The pressure of trying to make it to work while all this is going on with my son is too much. I left my job yesterday and would like to take some time off and focus on Roman. He’s way behind in school due to missing so much school. He has a 504, so it doesn’t negatively affect his attendance, but it does cause him to be behind academically. On days he misses, I want to be able to be at home and spend time with him on schoolwork so he doesn’t get further behind. It also puts him and his health at risk when he’s severely neutropenic, and I’m going to work around big crowds and potentially bringing more germs home to him.

As a mom of 3 who has a ton of responsibility and stress on my plate right now, it’s really stressing me out knowing I no longer have an income coming in especially around the holidays. I know this is the best decision for Roman right now; he needs his mommy.