Ms. Melissa Kelly is a mother of a 12-year-old child with Spinal Muscular Atrophy (SMA) in West Haven. Kelly was told her daughter, Eva, wouldn’t live past her first birthday when she was initially diagnosed at three months old. 

          SMA is a hereditary disease affecting nerves that control muscle movement. The disease affects one in every 10,000 people. According to the Center for Disease Control (CDC), most cases of SMA occur when a segment of the gene SMN1 is missing, resulting in the gene being unable to make protein. The SMN1 gene is responsible for making survival motor neurons, which is required for maintaining normal motor neuron function.  

          There are four different types of SMA. The severity of the disease is determined by what type a person has (zero, one, two or three). SMA can be detected with a brain scan or full body examination and the type can be determined by a blood test. If symptoms are not detected at an early stage, it can lead to death. 

          SMA was added into the prenatal testing process two years ago. Prior to that, there was no way to pre-detect the disease. Before prenatal screening for SMA, most parents were unaware of the disease and its effects until their child was having difficulty reaching developmental milestones.   

           This testing was how Kelly found out about her daughter’s condition. She took Eva to two pediatricians because she knew something wasn’t right. Kelly’s reaction was one of surprise when she learned of her daughter’s diagnosis.

          Eva was Kelly’s youngest child. Eva’s older sibling is five years older and had been reaching developmental milestones.

          After seeing two pediatricians, Kelly was frustrated and overwhelmed because she still didn’t feel like she had concrete answers. Next, she brought her daughter to a neurologist. 

          “I realized something was seriously wrong when he took something and tickled the bottom of her foot and she didn’t have a reflex,” Kelly says. 

          Once the blood work came back at three months of age, Eva was diagnosed with type 1 SMA. 

          Managing a child’s health with SMA is a full time job in itself. Even a simple task like taking a shower is hard to do. 

          Kelly states, “There has to always be a second person there, even with a nurse.” This results in Kelly not being able to work, and the family often needs to cancel plans because there is no nurse available or the place they are going to isn’t handicapped accessible. It’s hard for Kelly to plan things in her personal life.

          Eva started pre-school six years ago. At that time, bringing all her equipment to school and being sure she had a nurse at school was a big responsibility for her mom. But Kelly managed and has continued to see that her daughter receives a proper education.

          Today, Eva is 12 and goes to Carrigan Intermediate School in West Haven. She has to have a nurse with her daily to help her get through the school day. Life continues to bring its challenges, but there are new treatments that offer help, and her mother is hopeful that with time, there will be more discoveries that will improve her daughter’s condition. 

          Fundraisers have been held each year since she was born to raise awareness and money to help pay for the myriad of expenses that go with the disease. Bike Night for Eva is one that is held annually to help the family meet never-ending bills. This year’s Bike Night will take place at the beginning of July. Look to Facebook and local media outlets in coming months for announcements and details about the event.