Hello! We are the Waterman Family- Dad: Thomas, Mom: Blaire, Baby: Penny, and baby W expected May 2022, living in Portland Oregon. Penny is our first child, born December 2020. She came shortly after I was diagnosed with COVID and it has been a wild ride ever since!
In April of 2021, when Penny was only 4 months old, she was laying on the couch, next to me, when I noticed what looked like a startle reflex, but then it happened a few times in a row and her eyes rolled up in her head which triggered me to start taking a video. When her dad got home from work, we decided to take her in to see the pediatrician.
Her doctor sent the video to the neurology team at Oregon Health and Science University- who advised us to go to the Emergency Room. Once there, we were admitted and set up for an EEG.
That was when we were diagnosed with Infantile Spasms, something neither we, nor our families, had ever heard of. With this diagnosis, it is important to try and identify a cause- which is often structural (identified in an MRI) or genetic and immediately start treatment. A few weeks later, we were told that Penny had a genetic mutation on her PPP3CA gene.
Our neurologist did not feel hopeful about the prognosis; informing us that, in the small number of patients that have been studied with this mutation, most were nonverbal, non ambulatory, had refractory seizures, and significant developmental delays. She did say that, due to the very limited information found on this rare mutation, it is likely that there is a wider range of outcomes.
This was obviously devastating, life changing, news.
Being the planner I am, I immideiately scoured the internet- reading the limited (2) studies, google searching PPP3CA to learn more about what this gene does (still do not understand it), and searching hashtags on social media. While we were doing all of this work, our amazing support system was doing a lot of research on their own. That was when my older sister found Jordan’s Guardian Angels and saw the PPP mutation and assumed they may be closely related.
Since connecting with Jordans and Carole, I have learned so much about the rare disease community and the advocacy that is necessary to make things happen in the research world.
We have started our own Facebook group and have found about 13 families with this same mutation- from all over the world, we have worked to gather medical info/blood samples for the Simon’s Searchlight Database, reach out to researchers, start a website, create a social media presence, and support each other as much as possible.
Our hope is that we will continue to grow our network, push for research, share experiences with therapies/medications, and push for a CURE for- not only our rare genetic mutation- but for all rare diseases that affect our babies.
As for Penny, she just started her 8th medication, and is on the ketogenic diet, her seizures have improved but have not gone away. We do our best to remain hopeful and optimistic with each new treatment, but the reality is that we likely still have a long road ahead, but are extremely grateful for the community around us and the support we feel every day.