Inspiring hope
Welcome to our patient stories page, where we share narratives of hope and resilience from individuals and families affected by rare diseases. These stories are a testament to the strength of the human spirit and the importance of community. We hope these stories will inspire you and foster a deeper understanding of the challenges and triumphs within the rare disease community. We aim to create a supportive community where we can connect and share our stories.
Jada
Jada had a stroke (brain bleed) as a newborn & at age 7 was diagnosed with a rare disorder that causes epilepsy, severe developmental delays, tremors, a bleeding disorder & more.
I turned my pain into purpose by diving in and learning as much as I could about Jada’s multiple medical conditions (countless hours of research) to help me in my quest to best fight for Jada’s life and coordinate her medical care.
Jada is nonverbal and is unable to advocate for herself - Becoming Jada’s voice, sharing her story & raising awareness about her rare disorders has also helped me turn pain into purpose.
My name is Niki
Jada’s rare epilepsy is called STXBP1 Disorder. Her bleeding disorder is called HHT (Hereditary Hemorrhagic Telangiectasia).
(Jada has more than that but I don’t want to make it confusing :-) She is missing 40 genes - the official name is 9q34.11 Gene Deletion - the disorders I named above are the main problems this gene deletion is causing )
One last thing - not sure if I should add that Jada sees 15 doctors/specialists. I would add that in parentheses right after the sentence that ends in “coordinate her medical care”.
Follow Jada's Journey:
Jada's Facebook
Niki's Instagram: @socal_rootsgal
