Alma Ballauz

Alma Ballauz was born a healthy baby. Her birth was a joyful day for both her parents. As she grew older, she brought happiness to everyone who met her. She grew like any other child, and one day, at 18 months old, her parents noticed her movements were unstable and that there were subtle signs that something was not right. Like any concerned parents, they took her to the doctor looking for reassurance. Instead, what they were told completely changed their lives.

Upon examining Alma, the family was informed that Alma had a genetic condition called Multiple Sulfatase Deficiency (MSD). They were told that this was a fatal disease with no cure and a life expectancy of 5 years. For Alma’s parents, this was devastating to hear. It was hard to accept that their baby girl, who was developing like a typical child, was now diagnosed with MSD. Alma’s parents Googled MSD only to find 15 results, most of them indicating the detrimental effects of MSD on the brain and the shortened life span. When the rest of the family found out about Alma’s diagnosis, they were sad and cried for Alma. However, Alma’s parents were determined to find a cure. 

Alma’s parents remained positive about gene therapies and the research they had found online. They contacted one of the researchers from the articles he read and decided to meet with the researcher at the hospital where he worked. With $4000, the family traveled to Italy, where they received genetic testing free of cost. They got trio testing to determine the specific SUMF1 variant that Alma carried. In the meantime, they connected with other MSD families and learned about the various studies and gene therapies that were ongoing efforts to find a cure for this condition. This led Alma’s family to create a foundation in Argentina to find a cure for MSD. Today, along with the United MSD Foundation in the US, their goal is to raise funds to continue research on MSD till they find a cure.

Alma’s father says this disease has its good moments and bad ones. They try to adapt to the condition one day at a time. They have dedicated their lives to Alma and make sure she is comfortable wherever she goes. Watching her regress over the years has been hard on them, but their love for her keeps growing. He said that this condition has taught them to be flexible, patient, and to adapt to each moment. They had to create their own normal for Alma, such as buying special food, visiting places that are accessible to wheelchair users, and finding places they can vacation. When she was able to walk a little, they went to Europe. The next year, she could no longer walk, so they visited the beach. The following year, she was in a wheelchair, so they went to Disney, and now they only travel to places where they can drive. As her condition changed, so did their way of life.

Their advice to other parents navigating a rare disease journey is to have strength, patience, and empathy. There will be ups and downs, but the most important thing is to support your child as much as you can.

Written by Malaika Vaz (Student Ambassador)

Follow Fundación Cure MSD, a nonprofit honoring Alma and bringing awareness to MSD:

Facebook: Fundación Cure MSD – Una Cura Para Alma