Welcome to Mae’s One Small Step page, a site to raise money for the Foundation for Prader-Willi Research! As many of you know, Mae has Prader-Willi Syndrome (PWS), which is a rare genetic disorder that causes low muscle tone, excessive hunger, and numerous other medical and psychological symptoms. The money you contribute to Mae’s walk goes directly to the Foundation for Prader-Willi Research (FPWR).
Founded by parents of children with PWS, FPWR funds research for treatments that will alleviate PWS symptoms and improve the quality of life for Mae and others living with PWS. FPWR identifies potential new treatments and works to advance genetic therapies and improve clinical care.
FPWR has raised millions of dollars for research and funded hundreds of individual research projects. Mae has been taking a drug since she was two that is available to her because of FPWR. But this past year has been difficult. The organization saw a two-million-dollar shortfall in 2020 and one of the promising drugs we were hoping Mae could start taking soon had a set back at the FDA. The FDA has not approved this very promising drug for use because drug trials were stopped prematurely due to COVID-19. Therefore, your contributions are especially important this year as the organization moves forward into a post-COVID-19 world.
Mae is seven years old years old and finishing her first-grade year at Two Rivers Public Charter School. She has three wonderful teachers, therapists, and other staff she loves. This last year has been hard for everyone, and especially for Mae, who has been in school virtually since March of 2020. Despite the difficulties Mae rarely complains and is usually enthusiastic about her online classes, especially math. We are looking forward to this summer because Mae will go to summer school in person in the mornings and a speech therapy/occupational therapy and socialization camp in the afternoons. She will be active and with other kids again.
One of Mae’s biggest setbacks is her speech. She receives speech therapy virtually at school but has not been able to do her outside therapy sessions in person due to the pandemic. Mae has Apraxia of Speech, which is a motor disorder that causes difficulty coordinating the movements necessary for speech. Mae’s vocabulary has increased, and she is sometimes speaking in sentences. However, it is often hard to understand her, which is frustrating for her and a little heartbreaking for us. The good thing is that Mae is persistent and kind to herself, and her sister is better than we are at understanding Mae. We worry about how Mae’s speech will affect her going forward in school and in her ability to socialize and make friends. Although she is a joyful kid, you can see that she is sometimes lonely.
Mae has not started to exhibit hyperphagia, or excessive hunger, which is the most debilitating symptom of PWS, but she does have a non-typical interest in food. Mae is on a low-carbohydrate diet, and we try to be structured about when she eats. It has gotten more difficult as Mira has gotten older because Mira often asks for ice cream and other sweets. At least now there are keto friendly desserts and other options that Mae can have occasionally. Mae is an adventurous eater and will try most foods, which makes preparing her meals easier.
Our hope for Mae is that she can live a joyful and fulfilling life – a life she can lead as independently as possible. Most people with PWS cannot live alone as adults, but that may be possible in the future. It is more likely to become a reality because of FPWR. We hope there will be medication and other treatments that will lessen the challenging and limiting aspects of PWS so that Mae can accomplish her goals. If you are able, we would greatly appreciate your donation to FPWR through Mae’s walk. It means more to us than we can articulate. We are confident that your donation will make Mae’s life better. Even if you are unable to donate, thank you for taking the time to check in on Mae. We appreciate your love and support.