Three Generations…One Genetic Mutation….Hope on the Horizon, by the Agostino Family
Josh, Joanne & Jay Agostino
Why did my vibrant, active mother-in-law suddenly need a kidney transplant in her late 60’s? She did not have any health issues to cause her kidney to fail.
Why did her mother die in her 50’s without any pre-existing health problems?
Why did my husband suddenly experience debilitating gout repeatedly in every joint in his 40’s? Why was his blood work showing slow kidney disease progression from age 45 on? Why did a very healthy man with no other issues suddenly wind up on the kidney donor list at age 55? None of his doctors seemed to know why. No alarm bells were rung even though kidney disease was affecting so many family members. This was mystifying, frustrating and terrifying.
Once my otherwise healthy husband wound up on the kidney donor list, I knew something was very wrong that was more than just “kidney disease”. I knew there was something bigger going on and I wanted answers. Our 16 year old autistic son, Joshua, was at risk and other young family members were also dealing with slow kidney disease progression without other health conditions. I felt like a time bomb could be ticking in my son’s body. After a visit with a pediatric nephrologist who suggested a rare condition called Autosomal Dominant Tubulointerstitial Kidney Disease caused by Uromodulin Kidney Disease Mutation (ADTKD-UMOD) I was confused but determined to know what this was and how to treat it.
After a genetic test confirmed our son Josh was positive for the UMOD mutation, I was determined to find others dealing with this genetic nightmare and work on ways to help alter its course or stop it in its tracks. After finding the Rare Kidney Disease Foundation and Dr. Anthony Bleyer at Wake Forest School of Medicine we were so grateful and are feeling positive about future treatments. We never want another family to suffer as so many have, including our family. When you are dealing with a very rare and life threatening condition, it can feel very isolating and quite frankly terrifying. Dr. Bleyer and his team were a lifeline we needed so badly and we are eternally grateful for all of the efforts they have taken on to help families like ours.
We hope that our family’s participation in current studies help find a treatment and we feel so positive about the future. It is our wish that others who have been on a long diagnostic journey like us find the Rare Kidney Disease Foundation because together we will find a treatment that will ensure no family goes through this without answers and the promise of a healthy future.
Please join us if you or a loved one has unexplained kidney disease progression. I have never felt so much hope as I have since we found Dr. Bleyer and the Rare Kidney Disease Foundation.
With love and gratitude,
The Agostino Family