Rare disease: find others who “just get it”
Diseases
Genetic Disease
Issues and Challenges
Sheri has encountered: Access to Medicine, Insurance Issues, Rare / Underserved Disease, Caregiving, Disability, Prior Authorization
My Story
Hello, I’m Sheri Mills, and I live in West Virginia with my husband and two kids. My youngest having Prader-Willi Syndrome and Autism. My story is not unlike the story of other parents who have a child with Prader-Willi. We each have our own challenges and levels of acceptance. We also have our own stories of hope and celebration.
I have been advocating for Prader-Willi for three years now. I have advocated both on the state level, and federal level. I believe it is important to put a face with our story. I believe that there is no better way to tell our story than to tell it in person. I will also continue to show up, as much as I am needed, and hope we can form a relationship to make changes together.
Prader-Willi Syndrome affects 1/ 15-20,000 people. I like to reference Down Syndrome, as everyone knows of that rare disease. Down Syndrome affects 1/ 750 people. PWS 1/ 15-20,000. Our community is small, but it is fierce. I always say that I would never want my child to have a rare disease, but since she does, I’m glad it is Prader-Willi.
But I hate Prader-Willi. My daughter had failure to thrive at birth. All the equipment kept her alive. She could not breathe on her own. She could not eat on her own. She was this, almost lifeless, floppy baby with zero muscle tone. In fact, she did not even open her eyes to wake up for over a week of her life.
The NICU doctor told us she had Prader-Willi after ordering genetic testing due to how she was presenting. He told us as if he was telling us that she was scheduled to have a bath that day. The words were uttered as if they would not change our lives forever. But, that one sentence did, and he proceeded to tell us all of the things she would never be able to do.
My daughter will be seven in July. Besides her speech, which has come a long way, she has caught up on all her milestones. She is in kindergarten and thriving. Her principal reminds me that, “Lyra was made for kindergarten!”
Though she looks happy, and is thriving, it also does not mean that she has not had to fight for every milestone she has accomplished. That WE have not had to fight. I remember our first session with Birth-To-Three. The OT grabbed Lyra’s little hand and showed her how to put it around a rattle. This is something that comes naturally to babies, but not my kid. We have had to do this with every aspect of her life. It’s not a matter of “she will not accomplish said goal”, it is a matter of “how”.
Life is scary. Very scary. PWS has phases and it ranges in symptoms and severity. People with PWS go from this failure to thrive to never feeling full. Along with that comes excess anxiety because thoughts of food consume their mind. Can you imagine never feeling full? No matter how much you ate? Never trust that you next meal will come, even after being told repeatedly that it will? Even with us, her parents, who she should trust more than anyone in this world?
Right now, there is no cure for PWS. She has already started gaining weight without adding calories. She has already asked about food over and over all day. We have not even entered the horrible phase of PWS, and it is already affecting every member of our family. I fear she will hit this next phase very soon.
Sadly, she is not able to attend advocacy in person with me due to some of the symptoms of Prader-Willi Syndrome. It’s just easier not to bring her. That spectrum range that is PWS, makes my child not able to do some of the things the other kids who advocate-in-person do. We struggle with anxiety, meltdowns, and behaviors. I wouldn’t be able to talk to you if she was here.
This is where my advocacy work comes in. How can I, her mother, help her future when this rare disease is out of my control?
If the second sentence out of the neonatologist’s mouth on diagnosis day would have been, “Learn politics”, I would have thought he was crazy. But it would have been the best advice that anyone had given me. Besides, go home and love your child.
Sadly, the decisions politicians make directly affect my daughter and those with Prader-Willi Syndrome. Her livelihood and even her life expectancy. Without a cure for these harder phases of PWS, the future is just as grim as we were told on diagnosis day.
Thank you so much for your time,
Sheri Mills, mother of Lyra, age 6 living with Prader-Willi Syndrome
My Motivation and Inspiration
Seeing other people's stories who are living this rare disease life gives me hope and inspiration, especially in our own PWS community. It is important for me to surround myself with others who "just get it".
My daughter motivates and inspires me every day. I see her work so hard for everything. But I also see how much joy she has. She bee-bops around the house. She hums. She dances with out any care. It's like she has music in her head, and her happiness shines. She has been through so much, and she is one of the happiest kids I've ever met. I would not be able to do any of this without the light she shines on our lives.
I talk about our lives on my blog, Moon & Mountains. Sharing has given me a platform to raise awareness, but the people who follow me and their comments give me such motivation to keep going. It is crazy how a stranger who follows a cute little girl with PWS, has turned into friendships full of love and support.
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