Are you worried about a baby? Project FIND-OUT may provide answers…
If you're reading this blog post, chances are you or someone you know has received a diagnosis related to a CACNA1A genetic variant. Fortunately, you've discovered a supportive community and invaluable resources to navigate the complexities of a rare disease journey. However, think about the time before the diagnosis. Recall those uneasy feelings, sensing that something might be amiss with your baby. Consider the diagnostic journey of your loved one. How lengthy was it? How many healthcare professionals did you consult before reaching a diagnosis? And what about the financial strain, perhaps being told that your insurance might not cover genetic testing?
Enter Project FIND-OUT, an initiative that aims to facilitate early and accurate genetic diagnoses of rare genetic neurodevelopmental disorders in infants between the ages of 3 and 12 months in the United States.
Dedicated to supporting families and their infants displaying symptoms of neurodevelopmental disorders, Project FIND-OUT offers free services for babies aged 3-12 months exhibiting at least 2 of the 7 "Find Out" symptoms. These include feeding issues, movement problems, NICU admission, developmental delay, unprovoked seizures, low muscle tone, or missed developmental milestones. The program provides a FREE neurological assessment, FREE whole genome sequencing, and FREE genetic counseling—all accessible via phone and online, eliminating the need for travel.
The goal is ambitious – aiming to test 1000 babies. This means up to 1000 infants may have the opportunity for an early diagnosis without concerns about the testing's expense or insurance coverage. And, families of those infants could potentially find organizations, like the CACNA1A Foundation, to support them.
If you know a family that might benefit from this project, they can visit www.projectfindout.com to learn more.
Together, let's make a difference in the lives of these families and their precious little ones. PLEASE SHARE!