DAUPHIN COUNTY, Pa. (WHP) \u2014 A central Pennsylvania baby is battling a rare genetic disease, and now her mother is sharing their journey in hopes of spreading awareness to other families.<\/p>\n
3-month-old Harper Cugini was born with spinal muscular atrophy, or SMA, Type 1, a rare genetic disease that affects the muscles, bones and respiratory system. <\/p>\n
\u201cIt has been a fight since day one with Harper,\u201d her mother, Samantha, said. \u201cAnd just like we say, it\u2019s another day and another fight.\u201d<\/p>\n
For Samantha, that fight began the day Harper was born. <\/p>\n
\u201cI’ve never felt so helpless in my life,\u201d she said. \u201cShe is 3 months old. She doesn’t have a say.\u201d <\/p>\n
Health experts said SMA affects about one in every 10,000 babies<\/a> born in the United States. \u201cIt is a spinal muscle atrophy. It is a disease that affects her muscles and her bones, as well as her respiratory,\u201d Samantha said.<\/p>\n According to Children’s Hospital of Philadelphia<\/a> (CHOP), patients with the more serious form of SMA, Type 1, can begin showing symptoms within the first six months of life. Those symptoms can include muscle weakness, spontaneous tongue movements, difficulty feeding and problems breathing.<\/p>\n \u201cShe has a very complex disease. She is very fragile,\u201d Samantha said. “This hasn’t been easy, and it’s something I never thought that I’d be going through in my entire life.\u201d<\/p>\n For Harper, the challenges of SMA have meant spending her entire three months of life in the hospital. <\/p>\n As Samantha watched her daughter battle the disease, she spent months pushing to get Harper to CHOP, where she believed Harper could receive specialized care for SMA Type 1.<\/p>\n \u201cI know Harper is a fighter,\u201d Samantha said. \u201cAnd I know regardless of where she’s at, she’s going to pull through.\u201d<\/p>\n Now that Harper is at CHOP, Samantha wants more people to know about SMA and the importance of early detection.<\/p>\n \u201cThis is a very rare genetic disease that needs to be spread, needs to be known,\u201d she said.<\/p>\n