According to an article from Times-Call Regional News, a seven year old girl named Mila Makovec has just begun an experimental treatment for Batten disease. Originally from Boulder County, Colorado, she traveled to Boston in order to receive treatment.
Batten disease is a rare nervous system disease that commonly begins during childhood.There are a number of different variants, but Mila’s type is caused by mutations of the CLN7 or MFSD8 gene. The mutation causes the buildup of lipopigments in the body, which kills nerve cells. Symptoms begin at anywhere from two to ten years of age. Early symptoms include seizures and/or problems with vision. Personality and behavior changes may become apparent, as well as slow learning or regression, poor coordination, bad circulation to the extremities, spine curvature, loss of fat and muscle mass, and progressive loss of speech, movement, and mental ability. The disease has no cure and is ultimately fatal. To learn more about Batten disease, click here.
It’s unlikely that Mila will survive into her teens, and she has already lost her ability to see, speak, and move independently. After her diagnosis in 2016, her parents, Julia Vitarello and Alek Makovec, started Mila’s Miracle Foundation to Stop Batten to fundraise and help find a cure for Batten disease. So far, the organization has started and begun funding a clinical trial in order to test a new gene therapy treatment for the condition. While this trial is still continuing, they also heard about the new experimental treatment and the foundation raised $750,000 to help make it possible for the treatment to happen. She began treatment on January 31st.
The experimental treatment will be a major gamble for the Makovec family. Vitarello says that she is unable to disclose information about the treatment to the media per an agreement with providers. Unfortunately, its effect on Mila is also a complete mystery. Since there has been almost no prior testing, there are many possible outcomes.
While Mila starts the new treatment, all the family can do now is wait in Boston to see what happens. They have no way to know if the treatment will have a positive effect on her disease, but with no other options available and Mila’s life on the line, the Makovecs have nowhere else to turn. Although the outcome is uncertain, the family is grateful to have new hope.