Background

Hi everyone,

Dan and I wanted to create a space where we could provide regular updates to friends and family who want to check in and find out about Ava's progress. It is difficult for us to remember to share (and repeat) Ava's struggles and care with everyone, and even to remember what details we've shared last so we know where to continue. We appreciate everyone's concern, and want to make sure everyone has a chance to hear what is happening with Ava. To bring everyone up to speed, I'll start at the beginning.

Meet Ava Jean Finelli. Sometimes we call her Jelly Bean. She is 9 months old. She is a lovable, smiley, sweet, chunky monkey with eyes so blue they are almost clear. Ava's favorite song is the itsy bitsy spider. She loves to watch our dog Dempsey run around the house, and feel his fur when he sits by her. She loves balloons, especially pulling the string down and watching them bounce back up. No one makes Ava smile quite as brightly as Dan. Her eyes follow him all around the room, and she is simply smitten.

Ava has been a joy for us since birth. Even as a newborn, she didn't cry loudly or keep us up all night. She was a pretty good sleeper, all things considered, and has a laid back and sweet disposition. We would take her out to restaurants and on walks and wherever, and she just loves to watch everything around her.

Then we started to notice that she couldn't lift her head very well at all during tummy time. Unsupported, her head would sort of just flop down. She wasn't kicking her legs or swatting her arms around. Her pediatrician diagnosed her with hypotonia, which is low muscle tone. It's sometimes known as "floppy baby syndrome." We enrolled her in physical therapy when she was about 4 months old. We worried that she was behind but figured she would eventually hit the expected milestones. The doctor ordered more tests, though, to find out what was causing the hypotonia, but they came back negative. He sent us to a neuromuscular specialist in Morristown who ordered another genetic test. Sure enough, Ava was diagnosed with Spinal Muscular Atrophy Type-I.

SMA-1 is the most severe form of SMA. It is a genetic disorder that has inhibited Ava's muscles from developing properly since birth. She can't hold her head up or roll over or sit up. She can't lift her arms or move her legs much without assistance. The muscles around her lungs are so weak that she sometimes has difficulty exhaling. And because she can't cough, even a common cold is life threatening. In fact, SMA-1 is the number one genetic cause of infant death according to CureSMA.org.

About six weeks ago, Ava was rushed to the ER in Morristown, NJ because she was breathing very rapidly and having trouble taking full breaths. When we arrived and removed her from the car, she was turning blue and covered in sweat. The triage team saved her life. She stayed in PICU for 4 weeks receiving treatment for a respiratory infection. We were overjoyed when she was released... until 2 days later when she spiked a fever and was continuously coughing. We took her to the pediatrician's office, and had to call an ambulance because she started having difficulty breathing again. She was rushed to another hospital in Newark, where she was diagnosed with RSV (a virus that can be very dangerous for the immunocompromised). She stayed there until Christmas Day, when she was transferred back to Morristown to be with her doctors. Machines are still helping her breathe, but thankfully she is slowly learning to breathe again on her own as she recovers from this latest illness. 

A miracle drug, Spinraza, was approved by the FDA only a year ago. It is injected into her spine by her neuromuscular specialist. Ava received her first treatment just before she landed in PICU the first time, and her second while there. Her doctor administered her third and most recent dose last week. Eventually, it should help her muscles grow and strengthen, including the ones around her lungs. We are holding our breath, but it seems like it may already be working... she can hold her arms up for longer now than she could before and she talks and cries more loudly (so much for that calm baby!).

Our hope above all hopes is that the treatment saves her, and allows her to grow and move and walk and eventually even run around with Dempsey. That she can live the life she deserves.

Thank you to everyone for your continued thoughts, prayers, support and love. We will keep you posted.

Laura and Danny