Sbai Family's SMA Medical Journey

Josephine Marie Sbai entered into our world and our hearts on Saturday, March 12, at 4:36 a.m. Born 6 pounds and 3 ounces, Josie brought outsized and immediate joy to our sister Kendra, brother-in-law Matt, and nephew Henry. Happy and healthy, Josie was discharged from the hospital to her home in Dubuque the next day.

 

On March 16, the Sbai family received difficult news from the pediatrician regarding Josie’s routine newborn screening. She was diagnosed with spinal muscular atrophy (SMA), a rare and progressive neurogenetic disease that affects the motor nerve cells in the spinal cord and impacts fundamental motor functions. Two days later, the family traveled to the University of Iowa Children’s Hospital in Iowa City to establish care with a pediatric neurologist and to start blood work that measures the severity of the disease.

 

Given the genetic nature of the disease, the family learned that Henry could also have SMA. He joined Josie on a trip to Iowa City on March 24 for a physical exam and blood work testing. (Newborn screenings did not include SMA when Henry was born in 2019.) The doctor observed some concerning weakness, but his blood work results are still pending.

 

The remarkable news is that within the last few years several robust treatments have been approved by the FDA that demonstrate significant improvement in outcomes for children with SMA. Options include a lifetime spinal injection treatment course or a one-time gene therapy. On March 25, the family received Josie’s initial test results indicating her SMA falls on the milder end of the spectrum (i.e., degeneration will not start in infancy). Further testing in the coming weeks will determine the exact type, expected outcomes, and what treatment plan will be most appropriate for Josie.

 

SMA treatments are notably expensive—the drug used in gene therapy is the most expensive in the United States at a cost of $2.1 million. Each spinal injection costs $125,000. The medical team has assured the family that Medicaid coverage, private health insurance, and drug rebates will help to reduce the cost of treatments. However, the overall financial burden remains uncertain, with travel costs and family leave from work also serving as factors.

 

We hope this Go Fund Me will alleviate some of the financial stress on the family so they can focus on their children's health and well-being. For now, the goal amount reflects the family's out-of-pocket maximum for the year. This does not include travel expenses, family leave from work, etc. As treatment decisions are made, the overall financial picture should become clearer; we will update the Go Fund Me goal accordingly. In the event that donations are made in excess of the family's SMA-related expenses, we will donate the proceeds to reputable SMA research organizations. As much as we appreciate any financial contribution, your emotional support continues to mean the most to all of us.

 

For up-to-date information on the Sbai family's SMA medical journey, please regularly visit their CaringBridge website: https://www.caringbridge.org/visit/sbaifamily

 

For more information about SMA, please visit: https://www.curesma.org/

 

With much love and appreciation,

Heather and Preston (Kendra's sister and brother)