Welcome to the Yellow Brick Road Project! Did you know that rare diseases affect 350 million people world-wide and 95% have no cure or even treatment? Today we launch our journey to “throw the house down” on a rare disease caused by a single point mutation located on the HNRNPH2 gene.
What is HNRNPH2 mutation?
This ultra-rare disorder is only recently diagnosable. In other words, until recently, it wasn’t even detectable. Whole exome sequencing is currently the only way to identify this rare disease. Characteristics specific to HNRNPH2 variations include mobility and gross motor issues (delayed walking, abnormal walking, problems with balance and coordination), low tone, muscle weakness, joint laxity, possible microcephaly (acquired or congenital), dyspraxia, apraxia, developmental delay/ intellectual disability, language impairment, anxiety, sensory processing issues, Autism, ADHD, orthopedic problems such as scoliosis and hip dysplasia, fluctuation of skills, sleep disturbances (falling asleep or staying asleep), neurological issues such as seizures, gastrointestinal issues (slow growth, weight gain, appetite, feeding etc.), specific facial features (eye shape, etc.).
Our patient-led non-profit organization has set its sights on spreading awareness, and in so doing, shine a light to identify more individuals that remain undiagnosed, yet touched by the same disorder. We have a mission to engage and fund the very best researchers to investigate the disease that plagues these amazing individuals and develop therapeutics and ultimately a cure! They demonstrate unbelievable courage on a daily basis navigating a world that is very difficult for them. It is our hope to give them the best opportunities possible. We are so glad you have shown interest in our quest and invite you to learn more. Here you can learn more about the science behind the disorder, more about those individuals affected, and how you can help! Please consider giving a donation, even the smallest of donations help! Thank you for joining us on this journey, on our yellow brick road to improve lives!