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): 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. The pandemic years have 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 had a set back at the FDA. Your contributions are especially important this year as the organization moves forward into a post-COVID-19 world.
Mae is eight years old and finishing her second-grade year at Two Rivers Public Charter School. She has three caring teachers and three therapists and has been with many of the same classmates since she was three years old. Mae and her sister, Mira, are in a musical theater class, and Mae enjoys going to an exercise class for kids with special needs every other weekend. Mae will continue in school this summer. Mae loves playing with her barbies, dolls, and Legos, watching YouTube videos and movies, and going to museums and the zoo.
Mae’s biggest setback right now is her speech. 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 can be heartbreaking for us. The good thing is that Mae is persistent and kind to herself, and she is surrounded by people who work hard to understand her. Her lead teacher, Mr. T., recently told us that he spends time reading about apraxia to better work with Mae. One of our biggest worries is how Mae’s speech will affect her reading and writing skills and her ability to socialize and make friends.
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 and low-sugar diet, and we try to be structured about when she eats. However, it has gotten more difficult as the girls have gotten older and Mira has developed an age appropriate enthusiasm for high-carbohydrate and high-sugar foods. At least now there are keto friendly and ow sugar desserts and other options that Mae can have occasionally during parties and other celebrations. Mae’s willingness to try new and adventurous foods does make 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. 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.
Though currently, most adults with PWS cannot live alone, but because of FPWR we hope that that will not be Mae’s fate.
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.