Eva Batista is just three months old, and her parents describe her as an “expressive, smiley, and happy baby.” Eva is one of the youngest people to ever be diagnosed with spinal muscular atrophy (SMA), having been diagnosed at seven weeks old. Now her parents are trying to come up with the $2.8 million needed for treatment, a drug called Zolgensma. Not only do they have to find the money to pay for it, they also need to travel out of Canada, where they are from, as the drug has not yet been approved there.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity from person to person. A mutation in the SMN1 causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head. The symptoms of this condition depend on the severity and type of SMA. Type I is the most severe, and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing. Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking. Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently. Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors. Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA approved treatment for SMA, and Zolgensma has also recently been approved.
Eva’s Story
Eva Batista was born in August of 2019, and was diagnosed with SMA Type I after just seven weeks. Her early diagnosis means that she is one of the youngest people with this condition. She is fed through a tube due to her problems with eating, and the weakness in her muscles stops her from moving her arms. While she is currently being treated with Spinraza, the first FDA approved drug for the treatment of SMA, her family hopes to take her to Boston to receive Zolgensma. The issues with this hope are that Zolgensma is not yet approved in Canada, where the family lives, and it costs $2.8 million. Her parents, Jessica and Ricardo, have created a GoFundMe in order to raise the money necessary. Despite the diagnosis and treatments, Eva’s parents describe her as happy and smiley. They say “conversations with Mommy and Daddy” are her favorite.
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