Light Up For RARE!

Every year, on the final day of February, we observe Rare Disease Day to raise awareness among the public and decision-makers regarding rare diseases and their profound effects on the lives of patients and their families.

Meet Joshua, our son, with WAGR Syndrome, an exceptionally rare condition occurring in approximately 1 in 1 million births. This syndrome results from a segment of missing genes on Chromosome 11.

Individuals with WAGR Syndrome confront numerous challenges, yet they have the potential to lead fulfilling and productive lives. Unfortunately, there is a 50% risk of developing Wilms tumor, a rare childhood kidney cancer, for those with WAGR Syndrome. Aniridia, a rare eye condition causing low vision, along with the possibility of blindness, cataracts, glaucoma, and corneal issues, is also prevalent. Genitourinary abnormalities may affect both genders, encompassing undescended testicles or abnormalities in the penis, ovaries, or uterus. A spectrum of developmental delays, including intellectual disability, learning difficulties, and behavioral challenges, is another facet of this syndrome.

Joshua has faced adversity head-on, undergoing ten surgeries before turning three and continues to battle Glaucoma and ocular issues.  And with his most recent spinal surgery, he relentlessly strives to regain mobility. His determination shines through every day, accompanied by infectious smiles and enduring hugs that leave an indelible impact on everyone he encounters.

IWSA, International WAGR Syndrome Association, promotes awareness, stimulates research, and supports families.  Further, it is their desire to celebrate the joy, love, & courage our loved ones with WAGR/11P deletions give us.  

By donating to the IWSA, you can feel the hope and share in the pride. 

Now YOU are "one in a million" too! Thank you for making a difference!