Emma had a normal birth, genetic newborn screen, and one-month appointment with her pediatrician. Around 6 weeks old, Emma’s parents began noticing a decline in her movement. She appeared very “floppy,” was not moving her limbs much at all, and had very poor head control. Concerned, they took her to her pediatrician, who raised concerns for spinal muscular atrophy (SMA), a genetic condition, and recommended immediate evaluation at Children’s Hospital in Pittsburgh.

Emma was admitted for a week in January 2026 and underwent a massive workup involving neurology, infectious disease, and genetics. Her evaluation included spine and brain MRIs, a lumbar puncture, dozens of labs, and assessments from multiple medical specialties. For the most part, her tests came back relatively normal. The only result still pending at discharge was her whole genome sequencing, which would take a few weeks and ultimately confirm or rule out SMA. Since Emma was stable, she was discharged home to wait for results.

When her genetic testing returned, SMA was not detected on whole genome sequencing—an enormous relief for her parents. Another mutation was identified but later determined to be benign and unrelated to Emma’s symptoms. Emma’s parents were told that idiopathic hypotonia (low muscle tone of an unknown cause) is relatively common, and the plan was to continue physical and occupational therapy to help improve her strength.

That was the plan until mid-February, when Emma began coughing and choking while nursing. Initially subtle, these symptoms progressively worsened. Her pediatrician recommended direct admission to Children’s Hospital for a swallow study due to concerns that she was aspirating. The study confirmed significant aspiration, and it was recommended that Emma receive a gastric feeding tube, as it was no longer safe for her to eat by mouth.

While the G-tube addressed the immediate safety concern, many questions remained. Why was this happening? Was her low muscle tone now affecting her ability to swallow? Could this mean her condition was progressive? Were her respiratory muscles also at risk? Neurology and genetics were once again consulted. On March 12, 2026, an EMG was performed, which showed alpha motor neuron disease consistent with spinal muscular atrophy—a devastating finding. Emma’s genetics team recommended more targeted testing of the specific gene responsible for SMA, as whole genome sequencing can sometimes miss rare variations. At the same time, her neuromuscular neurologist urgently started her on Evrysdi, a life-saving medication aimed at stabilizing and slowing the progression of SMA. On March 26, 2026, her neurologist confirmed that targeted genetic testing was positive, officially diagnosing Emma with SMA.

Moving forward, Emma has started Evrysdi, which has stabilized the progression of her disease. This treatment will preserve the motor neurons she currently has and help prevent further loss. However, the motor neurons lost prior to treatment cannot be restored. Emma and her family will continue working closely with her neuromuscular team at UPMC Children’s Hospital of Pittsburgh to explore additional treatment options, including gene therapy and other emerging therapies. She will also continue physical and occupational therapy for the foreseeable future.

Emma’s family has been deeply touched by the dedication and compassion of her family, friends, doctors, nurses, and care team, which inspired them to turn her diagnosis into a source of hope, love, and support for others. Emma’s Army is fiercely passionate and determined to make a meaningful difference in the lives of others by spreading awareness and support.