Submitted by Anne Fricke, mom to Freya (14, living with PWS)
Over a year ago, I signed Freya up for Harmony Biosciences’ TEMPO clinical trial of pitolisant, a medication to treat excessive daytime sleepiness. I had some reservations at first, mostly centered around making the mental shift of having a vibrant mistrust of pharmaceutical companies to then enrolling my 13-year-old into a pharmaceutical trial. If you’re interested in that journey, you can read How We Got Here – Prader-Willi Syndrome Association | USA.
As of today, Freya is 14, starting her second year on pitolisant, and treatment wise, I think it is one of the best things we’ve done for her. I can’t pinpoint the moment the medication started working, but I do remember when I began to reflect on what things were like without it, and how much easier life had become for Freya and us.
With the excessive daytime sleepiness, not only was Freya struggling to participate and missing out on valuable moments in life, but her emotions were tumultuous, unpredictable, and often bigger than the moment required. The constant vigilance of her energy levels, mood, and tone of voice was exhausting. And then one day, several months into the open-label extension, I realized that Freya hadn’t napped in a long time and that my shoulders didn’t feel so tight. It was a very liberating moment.
Now I can’t say it’s a miracle cure. Perhaps it’s that Freya has grown a bit and needs a higher dose. Perhaps there is some factor of her adapting to the medication…I’m not the researcher so it’s not my job to speculate. Freya now takes naps again and has moments of sleepiness, but they’re still nothing like they were. She may fall asleep in class or on a car ride, but the frequency is still far less, and she is most often able to perk right up and rejoin the waking world. I am still immensely grateful for this opportunity and, fingers crossed, our participation in this trial will help other families gain access to the medication.
We just had our final on-site appointment at the Santa Monica trial site (they’re still enrolling if families are interested), and we’ve thankfully been offered the opportunity to continue the trial through another organization. This time, the appointments will be through tele-health and home visits, which, with our three very friendly but somewhat unruly dogs, might be interesting. I will miss the travel adventures that Freya and I had on these trips, the time alone together without the chaos of school schedules and sibling dynamics. I am also grateful she won’t be missing more school and relying on me to help her with math homework. All around, this clinical trial experience and the treatment provided has been an incredible asset to Freya and our family having a better quality of life.
Learn more about the Harmony Bioscience’s TEMPO trial of pitolsant for excessive daytime sleepiness at TEMPO PWS Clinical Study For Prader-Willi Syndrome – Enroll Today
More Reading:
The other blogs in this series focus on the logistics of what it is like to be enrolled in a clinical trial, as well as the emotional and thoughtful aspects of participating. Use the links below to read the previous blogs.
1. How We Got Here – Prader-Willi Syndrome Association | USA
2.The Screening Appointment – Prader-Willi Syndrome Association | USA
3.Baseline and Video Interview – Prader-Willi Syndrome Association | USA
4.The (Sometimes Messy) Details of Life in a Clinical Trial – Prader-Willi Syndrome Association | USA
5.Trial Transitions and Testimonials – Prader-Willi Syndrome Association | USA
If you are interested in sharing your family’s experience with a PWS clinical trial, please email africke@pwsausa.org.
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.