The Importance of “Yet”: Life Lessons from Little Advocates
In September of 2020, Darlisha and Jarrett Barnes got an urgent voicemail about their newborn, Harley.
Harley had tested positive for spinal muscular atrophy (SMA) – a rare genetic disease that, when left in its most severe form, leads to progressive muscle weakness, paralysis, and permanent ventilation or death by age two in 90% of cases.
Darlisha and Jarrett had never heard of the disorder, and their first visit to the neurologist only confused them further.
“Harley didn’t have the symptoms the doctor shared with us. She was nursing, moving her arms and legs, all the normal baby things, and our elder daughter doesn’t have SMA. So, we sought out a second opinion,” said Darlisha.
Only a few weeks passed before their next appointment.
“She was just lying awake in my arms, which I thought was very normal. But then the neurologist pointed out that Harley hadn’t moved at all during the appointment,” explained Darlisha. “It was then that we realized she really had SMA.”
SMA is caused by a nonfunctioning or nonexistent survival motor neuron 1 (SMN1) gene, which is responsible for producing SMN protein. Without enough SMN protein, motor neuron cells throughout the body lose function and die.
“We knew that if we didn’t act quickly, she would suffer. As much as we wanted to wait for more data, if we did not act, there would be consequences,” said Darlisha. “Days before she got treatment, Harley couldn’t lift her head, arms or legs anymore. That regression happened in less than two months.”
Jarrett scoured the internet for information on treatment, knowing that SMA is progressive and early treatment is critical. Jarrett and Darlisha focused on the data available and had conversations with Harley’s team about what treatment option was right for her. They decided to go with Zolgensma® (onasemnogene abeparvovec-xioi), the only one-time gene therapy for SMA.
“Thankfully, we had no question in our minds about how we wanted to treat Harley. I think it took us longer to feel confident that she had SMA than to figure out how to treat her,” explained Darlisha. “We picked Zolgensma because it is one-time, and it treats the root cause of SMA.”
Zolgensma can increase liver enzyme levels and cause acute serious liver injury or acute liver failure which could result in death. In clinical trials, the most common side effects were elevated liver enzymes and vomiting. Please see additional Important Safety Information below and accompanying Full Prescribing Information. Children treated with Zolgensma need to receive an oral corticosteroid starting the day before infusion, and then after infusion for about two months or longer depending on their liver function exams and labs. Children treated with Zolgensma also need baseline labs and then need to return for blood tests weekly, bi-weekly and then monthly for at least the first three months after treatment.
Harley’s home state, Michigan, added screening for SMA to their newborn screening panel just six months before she was born. After extensive advocacy and awareness efforts in recent years, all but two states (Nevada and Hawaii) are now screening newborns for SMA after birth.
Thankfully, because Harley’s SMA was diagnosed early, she was able to receive Zolgensma at just two months old.
“I’ve spent decades working with patients who have SMA,” said Dr. Sandy Reyna, Chief Scientific Advisor and Head of Global Medical Engagement at Novartis Gene Therapies. “For a long time, we could only provide comfort and condolences to families. Now, there are treatment options backed by data. There are kids meeting milestones that are unheard of in the natural history of SMA.”
“After treatment, I remember one day she was in her crib, and she reached up and touched her hair for the first time. She looked at us like, ‘What is this?’” Darlisha laughed.
Harley just turned three. She goes to weekly physical therapy, and her mom says she shows up every week “ready to work.” Now, she can pull herself up to a standing position on furniture, a skill she learned so quickly that, for the first few times, she didn’t know how to get back down.
Harley’s biggest advocate—aside from herself— is her big sister, Sky.
“Sky, being seven, has an interesting way of talking about SMA. She’ll tell someone that her sister – her ‘baby’ – has SMA and that means that her body moves differently,” explained Darlisha. “When she’s talking to someone, she’ll say, ‘My baby can crawl, my baby can sit, she can kneel, and she can stand with help. But she can’t walk yet.’ She always says ‘yet,’ and that ‘yet’ is so important.”
Shared Darlisha, “Harley has some awareness that other kids aren’t wearing what she’s wearing,” since she wears arm braces, and special “party boots” with non-slip strips to help maintain her balance, “but she has no understanding that they’re doing things that she can’t do. Harley just can’t ‘yet.’”
“Our days are full of her bossing us around, joining our work calls, telling us her opinion about how we did on those calls,” said Darlisha. “She does some exercises while she watches TV, and she loves creating things. She has a tabletop easel and right now she’s learning to use a paintbrush. She is beautifully loving and tender and inviting, but she holds people accountable in a way that you just do not see in a toddler. She demands answers. She demands respect. She demands inclusion, and those are things that I know are going to serve her well,” said Darlisha.
“There’s a difference between feeling sorry for someone and feeling empathetic for them. People need to be kind, open and loving, and not feel sorry when they see kids like Harley,” said Darlisha. She believes we can learn a lot about how to love one another from our kids.
“Instead, people should get excited to learn something new and make a new friend.”
Results and outcomes vary among children based on several factors, including how far their SMA symptoms have progressed prior to receiving treatment.
Indication and Important Safety Information for ZOLGENSMA® (onasemnogene abeparvovec-xioi)
What is ZOLGENSMA?
ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.
What is the most important information I should know about ZOLGENSMA?
- ZOLGENSMA can increase liver enzyme levels and cause acute serious liver injury or acute liver failure which could result in death.
- Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.
- Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, if the patient misses a dose of corticosteroid or vomits it up, or if the patient experiences a decrease in alertness.
What should I watch for before and after infusion with ZOLGENSMA?
- Infections before or after ZOLGENSMA infusion can lead to more serious complications. Caregivers and close contacts with the patient should follow infection prevention procedures. Contact the patient’s doctor immediately if the patient experiences any signs of a possible infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.
- Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if the patient experiences unexpected bleeding or bruising.
- Thrombotic microangiopathy (TMA) has been reported to generally occur within the first two weeks after ZOLGENSMA infusion. Seek immediate medical attention if the patient experiences any signs or symptoms of TMA, such as unexpected bruising or bleeding, seizures, or decreased urine output.
- There is a theoretical risk of tumor development with gene therapies such as ZOLGENSMA. Contact the patient’s doctor and Novartis Gene Therapies, Inc. (1-833-828-3947) if a tumor develops.
What do I need to know about vaccinations and ZOLGENSMA?
- Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.
- Protection against influenza and respiratory syncytial virus (RSV) is recommended and vaccination status should be up-to-date prior to ZOLGENSMA administration. Please consult the patient’s doctor.
Do I need to take precautions with the patient’s bodily waste?
Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with patient body waste for one month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.
What are the possible or likely side effects of ZOLGENSMA?
The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.
The safety information provided here is not comprehensive. Talk to the patient’s doctor about any side effects that bother the patient or that don’t go away.
You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 or
www.fda.gov/medwatch, or Novartis Gene Therapies, Inc. at 1-833-828-3947.
Please see the Full Prescribing Information.
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US-ZOL-23-0119 V2 12/2023