OUR JOURNEY WITH WAGR SYNDROME

by Debbie Nicholas 
February 2020

My son Danny Nicholas is 34 years old and was born with WAGR SYNDROME, an 11p13 chromosome deficiency. WAGR is an acronym.  He developed malignant Wilms Tumor at age 9 months (the blueprint for the kidneys is on the 11th chromosome), he was born with no irises (aniridia), congenital cataracts, no central vision, optic nerve hypoplasia and more. Surgery to correct cataracts in one eye at 12 days of age caused glaucoma and eventual complete loss of vision in that eye. Today, he reads, writes and ambles carefully about with a slice of vision in the bottom right quadrant of his right eye.

Education was an extreme challenge, so we remain grateful to Crotched Mountain School in NH for the 9.5 years he attended and made great strides in communication, behavior and independence skills. We are also grateful to our school district for picking-up the tab, although that was a brutal battle requiring us to hire one attorney and then another. Fortunately, the only attorney to win a school placement lawsuit before the U.S. Supreme Court was from Virginia. He took Danny's case, never attended an IEP meeting, yet brilliantly crafted the educational outcome Danny's complicated set of challenges and gifts required. Although we didn't have the means, we had hope and tenacity and belief that Jesus owned the cattle on a thousand hills and He would never leave Danny stranded. He provided everything!

We were told that WAGR Syndrome occurs in 1/6,000,000 live births. In Danny's case, it was 100% de novo - out of the blue. While he was in elementary school, we connected online with other WAGR families from around the world, did fund-raising and hosted the very first WAGR Weekend (of many) at our home in Northern Virginia, with families from S Africa, England and the USA in attendance. A geneticist at Johns Hopkins also attended! Ultimately, through the work of many other gifted WAGR parents, we requested and received a comprehensive study of WAGR Syndrome by NIH. The coordinating physician was actually able to make a life-saving recommendation to Danny's ICU docs a few years ago, based on her unpublished clinical experience with the WAGR population. Amazing!

Today, Danny is pretty techno savvy on computers, iPads and cell phones and recently received a grant for equipment & training to improve his communication & vocational skills using technology. He talks (a lot!). His hearing loss started as a middle-schooler. It's a gift he talks at all - we have to remind ourselves!

He is a joy to his mom & dad, as well as in his younger brothers' lives, too. Danny lives in a wonderful group home 2 hours away, works but wants to do more meaningful work and participates in community engagement activities. He skypes and calls us and other family members regularly and visits/vacations with us at least once monthly.