You are ours. We are Yours. From the moon to the stars, Our love lasts as long as the wind soars.
“Our daughter Savannah Jo was born at 6:22pm on May 31st, 2019. Nothing about her birth went how we’d planned. We wanted a natural home-birth, the golden hour with our newborn, and a peaceful welcoming of our little girl into the world. What we got was an emergency C-section, a baby that wasn’t breathing, and significant trauma incurred upon ourselves and the entire delivery team.
We didn’t know anything was wrong with our baby until the final two weeks of pregnancy. We didn’t know that it wasn’t what we thought was wrong until after she was born. Savannah exhibited full-body muscle weakness and arthrogryposis multiplex congenita (a real scientific way of saying that many of her joints had contractures, rendering them more or less frozen in place.) Since she wasn’t breathing, Savannah had to be intubated immediately and remained that way until getting a tracheostomy once it became obvious that she wouldn’t be breathing on her own any time soon..
We learned more than we ever wanted to know about various neurological disorders, myopathies, dystrophies, and other syndromes that could explain her symptoms. Her newborn screen came back clean. It wasn’t until performing a whole exome sequence, the most expensive and advanced form of genetic testing clinically available, that we were able to identify anything that might explain what was wrong with her.
Savannah’s blood, as well as mom and dad’s, was tested to map out her entire exome (part of the genes that make up your DNA and contain the instructions for your body to create various proteins) to look for abnormalities. A mutation was identified on a specific gene pair: NVL1/NVL2. Lacy had one mutation and a still-functional gene pair, Jeff had a different mutation but a still-functional gene pair, and it appeared that Savannah had inherited both mutations and was left with a nonfunctional gene pair.
There are no known disorders tied to the NVL1/NVL2 gene pair. In fact, it appears Savannah’s might be the first recorded case of an NVL-linked neuromuscular disorder. We’ve sent some tissue samples to the National Institute of Health, who want to study the mutation and try to gain a greater understanding of the disorder caused by its mutation. The unique and remarkably rare nature of her disorder means that we have had no prognosis, no indication of whether Savannah’s condition will improve or worsen, and no treatments. This discovery swiftly brought us to the end of our clinical pathway for Savannah. Any hope of treatment or additional breakthroughs will have to come from the research realm.
A couple weeks ago we got our first bit of information that gives us more information regarding Savannah’s long-term prognosis. An MRI of her brain revealed that it is atrophying, or shrinking. This signals that Savannah’s disorder is indeed progressive, as we feared, and it is only a matter of time before her brain atrophies to the point where her body will shut down. We are still coming to terms with this, and praying desperately to God for a miracle, but more than anything we’re trying to enjoy every moment we have left with our precious little love.
We’ve been close with Amber for a long time. She shot our proposal photos, our engagement photos, our wedding photos, and was present for Savannah’s birth, capturing amazing moments during labor and immortalizing the magical reunion and first meeting between Lacy and Savannah after the surgery. We have been blown away by Amber’s natural gift for capturing those special moments in such a visionary and consistently excellent way. Anyone can point and shoot a camera if taught the right mechanisms, but it takes someone with the photographer’s eye to elevate it into a craft. We wanted Amber to join us in the NICU to capture these special moments we get to have with our little fighter. Savannah spent some time being loved on by mom, dad, and her sisters, Aurora and Bella. We hope you enjoy the photos as much as we do! They will be memories that we treasure for years to come!
Thank you so much, Amber!”
- The Helget Family