A Mom’s Persistence And Determination Changed The Course Of Her Child’s Life

“Something is wrong.”

Within hours of her infant son Remi’s birth, Rachelle just knew that for certain. She had older children, and her maternal instinct, the gut feeling all moms experience, told her that something was different and concerning about her baby’s breathing.

Remi was wheezing, and “breathing with just his belly,” Rachelle recalls. “I know babies, and I’ve never seen a baby breathe that way.”

The medical staff at the hospital assured her that some babies breathe differently after they are born. Little did Rachelle know that this was the beginning of a months-long journey for answers.

Trusting Your Parental Instinct

Over the first few weeks of Remi’s life, Rachelle, her husband, Trent, and other family members grew increasingly anxious about his development. Over the first two months, Remi stopped moving—unable to even bring his thumb to his mouth— and developed a serious cough that never went away. At various follow-up visits to the doctor, Rachelle was told that Remi was just a laid back, lazy baby and they would continue to monitor his development.

At a Christmas Eve dinner with her family, additional family members voiced their concerns about Remi’s breathing and motor skills. Rachelle had already taken Remi to the doctor an exasperating amount of times – what other option did she have? But the very next day, she spoke with a local nurse practitioner about Remi’s symptoms, and she told Rachelle she needed to take Remi to the hospital – right away.

Rachelle listened, and in the hopes of quieting her anxiety, took Remi to the nearest hospital that could help him – miles away from her rural Kansas town. Physicians at the facility knew something was seriously wrong with Remi, but due to limited resources, weren’t sure they were equipped to diagnose what he could be experiencing. They arranged for Remi to be transferred yet again.

With Remi’s blood-oxygen level dipping to 75%, Rachelle felt her mother’s instinct kick in like it did when Remi was born. Something serious was happening to her baby, but what?

A shocking diagnosis

At the third hospital, doctors were able to treat Remi for his low oxygen levels and also suctioned his lungs, hoping to make it easier for him to breathe.

“They took a catheter and put it up his nose down into his lungs to help clear them out,” Rachelle explained. “And the respiratory therapist said ‘He must not feel good because he’s not fighting me at all. Usually, kids are pulling at it.’ And I told him, ‘He’s always like this, he doesn’t move at all. I’ve been trying to tell everyone.’”

Other members of Remi’s care team also noticed he wasn’t moving. One nurse told doctors that she suspected spinal muscular atrophy (SMA). SMA is caused by a lack of a functional survival motor neuron 1 (SMN1) gene, and in one of the most severe forms results in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement. While SMA is a leading genetic cause of infant death, it is a rare disease, and many doctors don’t recognize the signs and symptoms right away.

“Since babies progress at their own pace, it can be challenging for doctors to diagnose SMA,” explained Dr. Meredith Schultz, the executive medical director and head of translational medicine for Novartis Gene Therapies. “Symptoms can be anything from low muscle tone to not meeting motor milestones or even breathing issues. SMA cannot be confirmed without a genetic test.”

Rachelle had never heard of SMA and was knocked off her feet when the doctor started to explain the rapid progression of the disease. SMA Type 1 can quickly lead to the need for breathing and feeding support and, without treatment, is fatal in 90% of cases within the first two years of life.

“I was lying on the ICU floor crying my eyes out,” Rachelle said. Facing a parent’s worst nightmare at a hospital far from her home and family, she thought, “if he is going to die, I want to take him home.”

Genetic tests confirmed that Remi did have SMA Type 1. But, along with the frightening diagnosis, the neurologist also shared some much-needed hope. He told them that there were treatments available for Remi.

“Just a few years ago, when parents received an SMA diagnosis, they had no treatment options and were often told to go home and love their baby,” said Dr. Schultz. “Today, there are several treatments, meaning diagnosing and treating SMA quickly is crucial to stopping progression of the disease.”

One-time gene therapy

Rachelle and Trent met with a geneticist, who told them about a gene therapy treatment, ZOLGENSMA® (onasemnogene abeparvovec-xioi). Approved in the U.S. in May 2019, Zolgensma is a one-time gene therapy delivered through an intravenous infusion. It is the only SMA treatment that targets the genetic root cause of SMA by replacing the function of the missing or non-working SMN1 gene. Zolgensma delivers a new, working copy of that gene to the patient’s cells, halting progression of SMA by telling motor neuron cells to make more of the important SMN protein.

“The geneticist told me about Zolgensma, and it felt like the best option for Remi,” Rachelle said. “It’s a one-time gene therapy so we were going for that.”

“Zolgensma represents a completely new class of SMA treatment,” said Dr. Schultz. “It works differently than other SMA treatments by addressing the root cause of SMA by replacing the missing or nonworking SMN1 gene. It is a one-time infusion in the hospital and the patient receives the missing gene, allowing the body to produce the necessary protein the body needs.”

Remi was treated with Zolgensma on January 17 at about three months old, a day the family calls his “second birthday.” Filled with joy, they got a cake and celebrated with the staff who treated him.

Rachelle and Trent were thrilled to see results from the treatment. While Zolgensma is not a cure for SMA, families and their physicians need to consider the potential benefits and risks of each treatment when making treatment decisions.

Zolgensma has a risk of acute serious liver injury, and 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.

Surrounded by support

Since his treatment, Remi has gotten stronger and put on weight. Today at 20 months old, he can sit on his own, reach for things and kick his feet. He is very vocal, uses a rapidly expanding vocabulary, and has recently learned to use a wheelchair. Through the bumpy road to diagnosis, Rachelle and her family formed a unique bond that only members of the rare disease community know.

“My mom is definitely a huge help,” Rachelle said. “My oldest daughter is bonded with Remi and has learned how to do everything. I really have a lot of family support.”

Rachelle shared that through her daughter’s experience with Remi’s SMA, she’s considering a future in medical research so that she can develop treatments like Zolgensma. Rachelle has connected with other parents in the SMA community and reaches out to them when she has the kind of questions that only another parent with the same experience can answer.

Through their journey, Rachelle has learned the value of being a fierce advocate for her son. Looking back at the start of Remi’s life and the countless doctor visits, she realizes that even though she pushed for an answer, she wishes there was more she could have done to get an earlier diagnosis. By sharing their story, she hopes to inspire other parents to be proactive and confident, advising them to trust their instincts about their child’s health.

“Don’t leave the doctor’s office,” Rachelle said. “If you feel that something is wrong, demand answers. Don’t take no for an answer.”

Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed prior to receiving treatment.

Indication and Important Safety Information

What is the most important information I should know about ZOLGENSMA?

• ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
• 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, or if the patient misses a dose of the corticosteroid or vomits it up.

What should I watch for before and after infusion with ZOLGENSMA?

• Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see signs of a possible viral respiratory 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 occur approximately one week after ZOLGENSMA infusion. Caregivers should 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.

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 respiratory syncytial virus (RSV) is recommended.

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 bodily waste for 1 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.

Indication

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.

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 833-828-3947.

Please see the Full Prescribing Information.

©2021 Novartis Gene Therapies, Inc. All rights reserved.

US-ZOL-21-0209 07/2021