Theodora was born in October 2021. She is a very happy and smiley baby. She loves having people pay attention to her, and can be either quiet and content or very blabby. Grabbing is one of her favorite activities – playing with her mobile, hands, fingers. She loves music and adores her older sisters. At first glance, you might not notice anything is wrong with Theodora, but she is sick.

Getting a Diagnosis

When Theodora was born, she had to spend 3 weeks in the NICU due to complications from hydrops fetalis. This condition is the accumulation of fluid in the abdomen. Sadly since going home, Theodora had to go to the ER to have the fluid removed three times. 

Extensive testing revealed Melanie (Theodora’s mother) and Theodora’s father are both carriers of GM1 gangliosidosis. Theodora has the Type 1, or infantile, form of the disease. Because their doctors didn’t know much about the disease, Melanie switched to specialists who are better able to help Theodora. She has been learning as much as she can about the disease. 

Theodora’s Symptoms

Theodora is currently experiencing a number of issues as a result of GM1. Cardiomyopathy is one of the most worrisome, as her left ventricle is only pumping between 10 and 20%. Melanie had wanted Theodora to get into a clinical trial, but her Cardiologist cautioned against it. He said Theodora should take medication to stabilize her heart before going through a trial. 

Another issue was revealed with a swallow study. It showed Theodora was aspirating milk into her lungs. To help her eat, they gave her a nasogastric feeding tube. A doctor also talked to them about options for a gastric feeding tube (a feeding tube in the abdomen). There are worries about healing and infection with that due to the fluid in her abdomen. 

In addition to her heart and feeding issues, Theodora has had difficulty breathing at night. She sometimes wakes struggling to breathe, so she has been put on oxygen. 

Despite the roller coaster of changes, and the intensive care routine –special feeding, oxygen monitoring, six medications a day– Melanie tries to live day to day. Stay normal. She’s fortunate to have a lot of support. Theodora has a hospice care nurse who comes every week. There are also regular visits with a social worker, speech therapist, music therapist, and child life specialist.

Going Forward

If there’s anything Melanie would like others to know about GM1, it’s that you need to take things day by day and try to enjoy your time, because you never know when something could happen. She hopes more people will spread awareness about the disease and donate so effective therapies can get developed. 

Melanie and Theodora are going to be featured in their local news on Monday, May 23rd, 2022 which also happens to be International GM1 Gangliosidosis Awareness Day.

Special thanks to Melanie, Theodora’s mom, for telling her story.

Sweet Theodora passed away on May 6th, 2023.