Dance a little; you deserve to twirl and smile and be light on your feet. Why? Because endlessly persevering takes a heck of a lot of you!
I work with parents, caregivers, every day who feel burnt out, frustrated, and sometimes downright hopeless because the health system is not working for them and their child with chronic symptoms and conditions, like pediatric epilepsy. Whether it’s a mom who has been told for the last five years that she is reading too much into her son’s symptoms, that he is probably totally fine. Or a dad who has been searching for answers for over a decade, refusing to stop until every stone has been turned. They all have one thing in common: perseverance. Relentless, passionate, steadfast perseverance in the face of constant “dead ends” and a never-ending list of caretaker responsibilities for a little one that has a more challenging time navigating life with epilepsy, intellectual disabilities, a movement disorder, or whatever else they may be living with as a child with a complex condition.
My name is Caty, and I lead patient engagement at a company called Probably Genetic. Probably Genetic connects caregivers and patients to no-cost genetic testing if that patient has a high likelihood of having a specific rare or complex condition we are working on. Families can apply online for our free programs by simply providing the patient’s relevant medical history and symptom presentation. If a patient is approved, we ship a sample collection kit to the family’s house, and the sample can then be immediately mailed back to the clinical laboratory, where whole-exome sequencing (WES) or whole-genome sequencing (WGS) can be run. If a patient is not immediately approved, they can remain on our waitlist and, as we add additional programs, may become eligible for a testing program in the future. It’s estimated that more than 40% of all pediatric epilepsy cases have a genetic cause, and yet, genetic testing is not recommended or made accessible to many of the families who need it. We’re trying to change that. I am sure it won’t surprise you to know that pediatric epilepsy is a primary symptom of multiple conditions that we work on, and I expect that number will only grow. Comprehensive genetic testing is a critical diagnostic tool that can change treatment, management, and even family planning strategies. However, most of our families don’t get access to this tool without incredible perseverance.
The work I do at Probably Genetic has completely shaped my understanding of your collective strength. I am not exaggerating when I say I have looked at thousands of transcripts from families. I may not know your individual story, and I most certainly cannot understand what you are going through as a caretaker or a family, but I do know you are among good company. And I know that those of you advocating for your children, paving new pathways for your kids because the common pathways only work for those that fit a certain mold, those of you banging down every door for more answers or more options for treatment/management, are among the fiercest of our species. In the rare disease community, it is no surprise that many of the patient advocacy organizations are led by caregivers for a child with that disease.
Diagnostic tests will happen, therapeutics will be developed, clinical trials will be conducted, new management techniques will be tried, new adaptive tools will be launched, better monitoring systems will exist because you persevere. But we know that perseverance doesn’t come lightly, it takes a toll. A huge toll. Sometimes, it takes a toll so great that you question how you will have any energy for whatever comes next. What I wanted to remind you of today was to remember to dance. That dance may be throwing a big party for a small victory, or finding something to silly to do after hours of something really hard, or taking a bit of “you time” to recharge before the next situation that calls for your strength. Or, maybe, it’s actually dancing; good old-fashioned dancing like no one is watching with the volume turned up as much as is safe for you and your family’s ears. I know you’ll continue to persevere, I just hope you remember to dance.
Caty
If you’d like to learn more about Probably Genetic, please click here. For conditions we are currently working on that involve pediatric epilepsy, please check out the following disease overviews: SYNGAP1, AlphaMann, and CTX. We are also working on STXBP1 and Pitt-Hopkins syndromes.
If you or someone you know is interested in applying for our free testing programs, please click here. Finally, if you have questions or would like to chat, please feel free to reach out to me at caty@probablygenetic.com.
Caty Bio:
Caty is VP of Growth & Patient Experience at Probably Genetic, responsible for supporting and engaging patients throughout their diagnostic testing journey. She is focused on how to best support patients with rare, genetic conditions and their families with access to testing and resources that can improve the diagnostic journey. Caty has spent 15 years in biotechnology, leading patient experience for companies with innovative health tech products, including the first-ever prescription digital therapeutic for cognitive impairment-related disorders and the first broad companion diagnostic genetic sequencing panel in oncology. Caty is also actively involved with several nonprofit organizations, including serving as a member of the marketing committee for Breast Cancer Prevention Partners, and its mission to eradicate harmful toxins linked with cancers.