Undaunted in the face of a challenging diagnosis


Posted: November 18, 2020 | Word Count: 1,154

Todd and Iwona were experienced parents when their son Alek was born — they already had two children and felt as prepared as possible for their new addition. However, Alek’s diagnosis with a rare, genetic disease called spinal muscular atrophy (SMA) changed everything. The family’s days were soon filled with doctor’s appointments and navigating clinical trials.

Their journey started when Alek was seven months old and began to fall behind on physical milestones. Doctors first told Iwona and Todd that Alek had hypotonia, sometimes called “floppy infant syndrome,” and incorrectly diagnosed him with cerebral palsy. When Alek lost the ability to hold up his head and began having trouble swallowing, Todd and Iwona became concerned and sought a second opinion. “We didn’t understand what was going on but it was evident something was wrong,” Iwona said. “Alek was changing from a healthy baby to a weaker baby right before our eyes.”

The path to a diagnosis

After consulting with a neurologist, they learned that Alek had SMA — a severe, progressive neuromuscular disease that can be fatal. It affects approximately one in 10,000 babies and is the leading genetic cause of infant mortality.

SMA leads to muscle weakness that can impact a person’s ability to walk, eat and even breathe on their own. Depending on the severity of SMA, some people require constant caregiver support for daily activities, such as going to the bathroom, getting dressed and brushing their teeth. There are four primary types of SMA, determined by the age when symptoms begin and physical milestones reached. Alek has Type 2 SMA, which is usually diagnosed between six months to two years of age. People with Type 2 SMA may experience respiratory issues and be unable to walk.

A parent’s love does not quit

Doctors told Todd and Iwona that the months of incorrect diagnoses had caused Alek’s strength and motor function to decline and that there was nothing that could be done.

Not taking no for an answer, the family turned to the SMA community and Alek’s neurologist for help. They learned about a study for an investigational treatment that could be administered orally and at-home. This treatment seemed like a good option for Alek and they worked with their neurologist to enroll in the clinical trial.

Starting a new journey

Shortly after, Alek received his first dose of this medicine, now approved as Evrysdi (risdiplam) for the treatment of SMA in adults and children 2 months of age and older.

Todd and Iwona have noticed improvements in Alek’s motor function since he started treatment, and they are thankful that in the midst of a global health pandemic, Alek has an oral medicine that can be taken at home.

"The neurologist told us that Alek is improving on his physical assessments, which are based on measurements of motor function,” said Todd. In one of the clinical trials for Evrysdi, motor function improved in children and adults with Type 2 and Type 3 SMA after taking Evrysdi for 12 months (average 1.36-point increase on the Motor Function Measure [MFM-32] scale compared with an average 0.19-decrease for those not taking Evrysdi).*

A family’s hope for the future

More than two years since Alek’s diagnosis, his family is learning how to adapt to life with SMA. For example, the family is building specialized features in their house to make daily living and moving around in a wheelchair more manageable for Alek.

With more knowledge and experience, the family is optimistic as they look to the future. “When it is once again safe to travel, we plan to visit Poland and Iwona’s parents,” says Todd. “This is something we’ve been planning for a long time.”

*SUNFISH is a 2-part study of children and adults with later-onset SMA. This includes 128 people with Type 2 SMA and 52 with Type 3 SMA. Part 2 includes 180 people and is measuring the safety and effectiveness of Evrysdi at the recommended dose (n=120), compared with those not taking Evrysdi (n=60). The main measurement was the change in motor function, as assessed on Motor Function Measure-32 (MFM-32), after 12 months of treatment, compared with those not taking Evrysdi.

What is Evrysdi?

Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older.

It is not known if Evrysdi is safe and effective in children under 2 months of age.

Important Safety Information

  • Before taking Evrysdi, tell your healthcare provider about all of your medical conditions, including if you:
    • have liver problems
    • are pregnant or plan to become pregnant. If you are pregnant, or are planning to become pregnant, ask your healthcare provider for advice before taking this medicine. Evrysdi may harm your unborn baby.
    • are a woman who can become pregnant:
      • Before you start your treatment with Evrysdi, your healthcare provider may test you for pregnancy. Because Evrysdi may harm your unborn baby, your healthcare provider will decide if taking Evrysdi is right for you during this time
      • Talk to your healthcare provider about birth control methods that may be right for you. Use birth control while on treatment and for at least 1 month after stopping Evrysdi
    • are an adult male planning to have children: Evrysdi may affect a man’s ability to have children (fertility). If this is of concern to you, make sure to ask a healthcare provider for advice
    • are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm your baby. If you plan to breastfeed, discuss with your healthcare provider about the best way to feed your baby while on treatment with Evrysdi
  • Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Keep a list of them to show your healthcare provider and pharmacist when you get a new medicine
  • You should receive Evrysdi from the pharmacy as a liquid that can be given by mouth or through a feeding tube. The liquid solution is prepared by your pharmacist. If the medicine in the bottle is a powder, do not use it. Contact your pharmacist for a replacement
  • Avoid getting Evrysdi on your skin or in your eyes. If Evrysdi gets on your skin, wash the area with soap and water. If Evrysdi gets in your eyes, rinse your eyes with water
  • The most common side effects of Evrysdi include:
  • For later-onset SMA:
    • fever
    • diarrhea
    • rash
    • For infantile-onset SMA:
      • fever
      • diarrhea
      • rash
      • runny nose, sneezing, sore throat, and cough (upper respiratory infection)
      • lung infection
      • constipation
      • vomiting

These are not all of the possible side effects of Evrysdi. For more information on the risk and benefits profile of Evrysdi, ask your healthcare provider or pharmacist.

You may report side effects to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Genentech at 1-888-835-2555.

Please see full Prescribing Information for additional Important Safety Information.

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