When my husband, Jeremy, and I found out that I was pregnant, I had all the emotions and anxiety that any first-time mom would have. We made lists, researched pediatricians, started working on a nursery, and prepared to bring our baby girl into the world.
We also wanted to learn as much as we could about our daughter even if she wasn’t in the world yet.
Since my biological mother was adopted, I didn’t know a lot about my family’s history. So, my obstetrician suggested a genetic carrier screening early on.
To my surprise, my results showed that I was a genetic carrier for a rare neuromuscular condition called spinal muscular atrophy, also known as SMA.
We didn’t panic, especially when my obstetrician didn’t seem concerned. There was no history of SMA in Jeremy’s family or in my own, and only 1 in 11,000 babies in the United States are diagnosed with SMA.
We continued to plan for our baby as we normally would.
Stella, named after both of our great-grandmothers, was born perfect and seemingly healthy. All her newborn follow-up appointments were going well, and she was passing every reflex test.
Her pediatrician knew that I was a genetic carrier for SMA, but he eased our minds and told us he had no reason to believe Stella had the condition. At the time, I couldn’t have imagined what the next month would have in store for us.
Because our home state of Arizona doesn’t include SMA in the list of diseases they routinely screen all newborns for at birth, our road to diagnosis didn’t begin until Stella was 3 weeks old, when she developed a blocked tear duct.
I took her to the doctor’s office, and we ended up seeing the pediatrician who saw Stella the day she was born. He confirmed Stella did have a clogged tear duct — but he was more concerned with how “floppy” she was, and how quiet her cry was.
He recognized that Stella was a very different baby from the one he saw on her first day of life.
He did reflex tests with her, and I watched the concern on his face grow. Remembering the carrier screening results I had received months earlier, I blurted out “I’m a carrier for SMA.”
The doctor contacted our local children’s hospital right away. We were admitted for a 4-day stay, where Stella underwent further testing.
We received Stella’s genetic test results shortly after — and they showed she was positive for SMA Type 1, which is one of the most severe forms and can be terminal within just a few years if left untreated.
As I felt my entire world shatter, I remember asking the doctor, “How much time do we have with her?”
He told me, “We’re not going to have that conversation — there are treatment options.” He educated us on the two FDA-approved treatment options available at the time.
Soon, it felt like the entire hospital was dedicated to helping Stella and making sure she received the best care possible.
Since this is such a rare disease, Jeremy and I didn’t know of any people we could call or text and ask for advice. Our family helped us by diving into the research from any source we could find, including social media.
We quickly realized SMA wasn’t as rare to our family and friends as we originally thought. The more we discussed Stella’s diagnosis with them, the more we heard of people they knew who had been impacted by SMA.
We leaned on these connections, and they helped point us to incredible resources like the Muscular Dystrophy Association (MDA), Never Give Up from the Gwendolyn Strong Foundation, and our local Arizona chapter of Cure SMA.
We began to connect with these groups and the families in them, all of us impacted by SMA in some way.
Whenever I had (or still have!) a question, or if I need to vent or ask for an opinion, they’ve been there for me. People who were total strangers to us have sent us equipment overnight for Stella or have helped us advocate on her behalf.
I’ve gotten to know many caregivers in my shoes, as well as a handful of amazing people with SMA from these platforms. They’ve provided me with important perspectives on so many subjects and have become some of my closest friends.
What I came to learn is that SMA is not unique in this way — so many other rare diseases have similar types of communities available to those impacted, all of us bonded by the fact that rare diseases are not rare to us.
After a lot of research and conversations with Stella’s care team, we made a decision on the right treatment journey for her and moved quickly. Jeremy and I are grateful for everyone on Stella’s care team who helped make this decision.
In the weeks following, I remembered thinking that someone had turned Stella’s volume up. Her cry — once so quiet you couldn’t hear it from the other room — was now music to our ears.
We celebrated so many small milestones with her that most would take for granted.
I can tell you the exact day that Stella first pulled my hair. Watching her tightly clenched fists slowly unfold and her fingers grip around my hair was one of the best days of my life.
And she’s only blossomed from there. Today Stella is a busy toddler who loves to chase her dog around in her wheelchair. And last Christmas she stood with the support of her stander to help us decorate our tree.
When we found out Stella would need a wheelchair, we were so excited for the independence it would bring her. I started looking for books and toys with characters who looked like her.
The day Stella’s wheelchair came, she also got her first doll that looked like her, wheelchair and all. With suggestions and help from friends, soon Stella’s doll also had matching orthotic braces, glasses, and kinesiology tape.
We also found a book written by a woman with SMA who happened to have the same care team Stella did when she was growing up! Her message of the importance of acceptance and inclusivity for disabilities of all kinds is a message we want to teach to not just Stella, but the world.
We are grateful that Stella was diagnosed as early as she was — but not every family is as fortunate.
Given that SMA is a progressive disease, patients need to be treated as soon as possible. We firmly believe that a diagnosis should be made quickly, and every baby should be screened for SMA at birth as part of routine newborn screening.
Along with several advocates, I’m working with the March of Dimes to add SMA to Arizona’s newborn screening panel. Currently, 36 states have SMA on their newborn screening panels and I’m hoping that Arizona will join this list this year.
I know that by adding SMA to their screening, we can do more than just help babies today, tomorrow, or next month — we can help them for generations to come.
Our family has become one of the many to recognize the importance of February 28, Rare Disease Day, a day to recognize the 300 million people worldwide affected by rare conditions like SMA. It’s a day for families like ours to share their stories and raise awareness.
This year on Rare Disease Day, Jeremy and I joined others in calling for change in the additional 14 states that do not screen newborns for SMA.
While we work toward our future hopes, we’ll continue every day to support our community, listen and learn from others, and celebrate the individuals in our lives that live with a rare disease — like our sweet Stella.
As a mom to a child with SMA, I take pride in being there for others going through similar situations. I know what it feels like to be in the thick of it all, and I feel extremely blessed for where we are today, thanks to the help of our community.
If you’re in my shoes and feel comfortable talking to others, I encourage you to look on Facebook or other social media channels for SMA support groups or find the closest Cure SMA chapter near you.
While tomorrow is unknown, we focus on what we have in front of us today: a sassy toddler who continues to bring smiles to everyone she meets, and an incredible community who will always be there for us.
Samantha Lackey is mom to Stella, who has spinal muscular atrophy (SMA) Type 1. Lackey is an advocate for newborn screening and dedicated to spreading awareness of conditions like SMA so other families affected by rare, life threatening diseases know that there is hope.