Fear- my child is missing milestones. We’re afraid something might not be right.

Blame- are we, as parents, doing something wrong? Did I miss a prenatal vitamin during pregnancy? Are we not getting her enough nutrition? It must be because I can’t breastfeed her. She won’t suck properly, I must not know what I’m doing.

Desperate- prior to diagnosis we were so desperate for answers. We spent so much time searching for answers.

Discouragement- we are deep into seeing specialists. No one is able to help us. No one can get us answers. We don’t think we will ever have answers.

Isolation- we are out on this island alone. No one understands us, our needs, our challenges.

Excluded - we don’t feel part of the parenthood tribe. We aren’t invited to social experiences because others are aware of the differences which are becoming more obvious. No one wants to share their own child’s milestones, they think our feelings will be hurt.

Scared- we got the phone call from genetics. There is a mutation that is thought to be pathogenic. We are the 40th in the world. This is scary.

Angry- how could this have happened to us? We love each other. We wanted a child. We went to all of our OB check ups. Everything was fine.

Validated- we knew we couldn’t ever stop searching for an answer, even though it was normal for people to tell us “she’ll get there.”

Welcomed- we connected with our global family after diagnosis. Wow, it’s great to talk with others who seem to understand exactly everything we just said.

Novice- there is so much to learn. We know nothing about this. We have a million questions.

Hopeful- there is a research team!!

Appreciation- for all the simple tasks we take for granted, like walking and talking. Appreciation for health care workers, researchers, teachers and therapists.

Expert- soon we are educating others.

Mentors- soon we feel comfortable supporting and encouraging new members of the group.

Thankful- to be part of this great group of human beings and making new friendships.

Proud- to contribute to the research. To share our story and advocate. To watch our rare princess thrive.

A friend set up a GoFundMe and connected us with the company Illumina who generously enrolled Natalie in their HOPE program and covered the costs of her genetic testing. After 3 months of waiting, we discovered she had a mutation in her PPP2R1A gene. We felt a relief to finally have an answer and a community to turn to for support. 

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.