A Mother’s Journey of Hope
Don’t doubt a mother’s instinct—both Jaci and Skarleth* are proof. Shortly after their children were born, they both knew something was amiss. Before the age of two, their children would be diagnosed with SMA. Though their journeys were singular, they learned a challenging but incredibly empowering lesson when the role of the mother also bears the title: caregiver.
*These are Jaci and Skarleth’s personal stories and experiences. Their journeys caring for a loved one with SMA and their children’s experiences with SPINRAZA® (nusinersen) treatment are unique to them, since individual results on therapy may vary. Biogen compensated Jaci and Skarleth for sharing their stories publicly.
Skarleth’s story as a caregiver may sound familiar to other SMA parents. She knew nothing about SMA before her son Evan was born. “He was just a great baby and so easygoing.”
Around three months, Skarleth noticed Evan stopped kicking his legs. After much persistence with her pediatrician, Skarleth was referred to a neurologist who diagnosed Evan with SMA Type 1.
Despite being thrown into a world with SMA and becoming a full-time caregiver, Skarleth was determined to give her son the best care possible. She joined online support groups and started attending SMA conferences.
Jaci’s experience, however, was entirely different; she knew SMA intimately. Five years before Jaci’s daughter Presley was born, she watched her brother lose his 11-week-old son to SMA. At the time, neither newborn screening nor treatment were available.
“When Presley was born, I was scared she had SMA. I spoke to our doctors, and they repeatedly told me she was fine.” However, at eighteen months, Presley continued to miss motor milestones, and Jaci knew. Despite a family history, it took pleading with doctors to test Presley. She was diagnosed with SMA Type 3.
By the time of Presley’s diagnosis, much had changed in the SMA landscape. So, Jaci worked closely with her healthcare team to understand the disease, its progression, and treatment.
Jaci and Skarleth were given hope for a possible treatment for Evan and Presley with the approval of SPINRAZA as the first FDA-approved treatment for children and adults with SMA in 2016.
SPINRAZA is administered intrathecally by, or under the direction of, healthcare professionals experienced in performing lumbar punctures. SPINRAZA (recommended dosage of 12 mg (5 mL) per administration) begins with four loading doses: After the four loading doses, SPINRAZA is administered every four months.
Before starting treatment, each family talked to their child’s neurologist about the potential benefits and risks of the treatment and reviewed all the safety information to ensure SPINRAZA was right for them. Even still, monitoring is needed to check for bleeding and kidney damage. Some of the common side effects include lower respiratory infection, fever, headache, vomiting, back pain, and post-lumbar puncture syndrome.
Both mothers reviewed the data and the use of SPINRAZA in the real world. SPINRAZA has been studied in the longest clinical trial program in SMA to date and there are more than 11,000 people who have been treated with SPINRAZA worldwide.1
Skarleth happily recalled the feeling of hope she had after Evan began treatment with SPINRAZA, when his physical therapist said, “he is a little stronger and can activate his muscles a little more.”
“When Evan was first diagnosed, I didn’t know how to access resources or read and interpret data, which looking back may have helped me better prepare for his care,” said Skarleth. Both women want new parents to understand SMA, and seek guidance from others including support groups, other caregivers, and healthcare professionals.
Jaci goes a step further by researching information available for SPINRAZA in adults to understand how it might continue to help as Presley grows older. “By reviewing and discussing this information with Presley’s doctor, I can set appropriate expectations and ensure that I am doing all that I can to help Presley as she transitions into adulthood.”
The role of the caregiver is a challenging one that requires patience and the practice of self-care, especially when taking care of another person. This is especially true with a lifelong illness like SMA which demands continuous attention and support.
“No one prepared me to face one of my biggest fears or explained to me that her care would push me physically and emotionally once I had received her diagnosis of SMA.” Jaci started working with a therapist to cope with the pain of Presley’s diagnosis. This changed how she approached Presley’s care.
Similarly, Skarleth recalled needing support to explain her son’s condition. Her years of being a caregiver ultimately influenced her career as an intensive care nurse.
Both moms encourage the SMA caregiver community to ask for help. No two SMA stories, individuals’ access to educational resources, or support is the same. Caregivers should know that along with a multi-disciplinary care team, there is a network of support and resources to help guide you through your journey.
Click here to learn more about SPINRAZA and to hear live stories of hope from individuals.
What is SPINRAZA?
SPINRAZA® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients.
Important Safety Information
Increased risk of bleeding complications has been observed after administration of similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs.
Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney, has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk.
The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome.
These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.
Before taking SPINRAZA, tell your healthcare provider if you are pregnant or plan to become pregnant.
Please see full Prescribing Information.
This information is not intended to replace discussions with your healthcare provider.
- Based on commercial patients, early access patients, and clinical trial participants as of July 2021.