February 28 is Rare Disease Day. Throughout the month—in recognition of our Redefining Rare initiative—we will be posting stories about SMA community members, showcasing their greatest passions, hobbies, and tidbits of their life.
This guest post is written by Jessica Hoefler whose daughter, Piper, passed away in May 2020, shortly after being diagnosed with SMA Type 0—the rarest form of SMA.
Piper Grace came into this world on Thursday, April 23, 2020, at 8:29 p.m. What appeared to be a standard pregnancy turned out, in retrospect, to be quite different. The birth itself was uneventful, quick, and natural. But when she came out gasping and struggling to breathe, they whisked her away to try and clear her lungs of fluid. It was at this point they became aware of her neuromuscular problems. She was immediately intubated and transferred, with my husband Ryan with her, to a children’s hospital NICU.
By this point, I had only seen her for about 15 minutes, as I still had to check out of labor and delivery, but she had to get to the appropriate NICU right away. My easy recovery allowed for a morning discharge, so I could finally see my baby. After days of testing and consults with a team of doctors—ranging from geneticists, neuromuscular specialists, and neonatologists—we received the crushing diagnosis of SMA Type 0, a very rare form of an already rare genetic condition.
Now we were faced with what choices, if any, there were for a baby diagnosed with a disorder few were familiar with. We were told that nothing would reverse her condition and any hope of her breathing, eating, or even moving (fine or gross movements) was impossible. In the end, she did not qualify for treatment, so our choices took on a different focus.
On Wednesday, May 20, 2020, at 4:32 p.m., the NICU staff orchestrated our final goodbye. I was able to carry her outside with a ventilator rolling behind me and our incredible NICU and Palliative Care family next to us. Outside in a beautiful courtyard surrounded by blooming hydrangea bushes, we sat with Piper as little raindrops fell on our cheeks. We felt the moment to remove her ventilator was upon us and just as the clouds parted, her tube was removed and Piper looked calmly into my eyes, free from medical equipment for the first time in her life. As the sun came out and beamed down on her, our sweet Angel took her last breath.
Piper’s life began with a hectic gasp but ended with a peaceful, soft breath. Though she left the physical world, we know she is running free in Heaven with our late dog, Rudy. Piper Grace will forever be missed but we take comfort in knowing she is unlocked from pain and freed by love.
To support Jessica’s Cure SMA fundraiser, donate online today.