MAE'S ONE SMALL STEP PAGE
Welcome to Mae’s One Small Step page. Thank you for coming. If you’ve seen Mae recently, you know she is thriving. She is growing like a weed and constantly running around. Mae is an energetic, engaging, and charming three-year old.
Mae’s muscle tone has continued to improve with help of human growth hormone injections. Even though she has yet to conquer our steep stairs alone or shed her orthotic braces, we project that she will achieve these milestones, and others, soon.
We put most of our focus this year on Mae’s speech. She has three hours of speech therapy a week and has made substantive progress. The good news is that although Mae cannot always articulate her thoughts, wants, and desires, her intellectual development is in the normal range. Therapists performed a comprehension assessment on Mae as part of the development of her Individualized Educational Plan. The assessment results showed her intelligence level is right in line with her peer group. Now, we have to focus on helping her thoughts and observations work their way out through her mouth. Mae has a ways to go and it is not going to happen over night or without a lot of work. We strive to be patient and diligent, which is all we can do right now.
This past fall, we attended our second Foundation for Prader-Willi Research (FPWR) conference. The money that Mae raises through this page goes to FPWR. The conference was an enlightening, encouraging, and affirming experience.
The researchers that received funding from FPWR came to the conference to update the families and other researchers on the progress of their research. The presentations can be technical to say the least. My undergrad biology lost usefulness within the first five minutes of each presentation. I will therefore avoid trying to relay the details of those presentations here. However, I will say that the focus, organization, and scope of FPWR’s efforts are impressive. One of the researchers made the comment that, in spite of years of receiving grants from multiple sources, he had never encountered a rare disease/syndrome organization as focused and well organized as FPWR. It felt good to see the photos of all the lab teams striving—with FPWR money that many of you helped to raise in the previous two years—to find treatments for many symptoms of the syndrome.
Parents, just like us, founded FPWR. Fourteen years ago, they saw the absence of dedicated research to help their children. They took action. Since then, the foundation has raised over $7,000,000 for research and funded 120 individual research projects. Mae is the beneficiary of the findings of these projects, and, when she is older, will be able to participate in drug trials. We need to keep the research going, the progress continuing, and the discoveries coming so that Mae, and others living with PWS, will be able to live independent lives. You can be a big part of that.
If you are able, we would greatly appreciate your donation to the FPWR. It means so much to us. We are confident that it will make a difference. Even if you are unable to donate, thank you so much for taking the time to check in on Mae. She is doing great.