Our lives were forever changed, 10 months after the birth of first son, Luke.  Luke had an onslaught of seizures that took many days in the hospital to get under control.  We left the hospital with many medications but no answers as to what was cause of his epilepsy.  After a myriad of tests, missed development milestones, the neurologist finally ordered genetic testing.   

The initial testing was inconclusive so a second genetic panel was ordered. 10 months later we got an appointment with a geneticist.  Luke had mutations in both of his copies of the WWOX gene.   She explained to us the importance of WWOX in a properly functioning brain and that Luke would be disabled for the rest of his life.  We were devastated to receive this news; that our dreams of what Luke's life would look like was going to be drastically different from our new reality.  We took comfort in the fact that we at least had an answer for his struggles.  However, we were told that at the time their were only 25 known cases throughout the world.

We continued to take Luke to therapies and early intervention to maximize whatever Luke's potential could be.  We worked tirelessly on each little "inchstone."  And Luke has thrived on his own path.

Two years after Luke's diagnosis, Jack was born.  In the first weeks and months after Jack's birth he was thriving and excelling in many areas that Luke struggled and we believed that he was spared from the devastating disease that had inflicted his brother.  We had genetic testing ordered anyway just to be sure.  The tests came back and we learned the news that Jack had the same two mutations on the WWOX gene.  Jack continued to do well and we thought perhaps he would have a milder disease.  But at 4 months the seizures struck, then they turned into Infantile Spasms (a devastating type of waveform in Epilepsy that is extremely harmful to developing brains). These seizures affected his ability to see and he was diagnosed with cortical vision impairment (CVI) making him virtually blind.  Throughout all this Jack had extreme difficulty sleeping at night (and therefore no one in the family had a restful night of sleep for years) he was diagnosed with sleep apnea.  His tonsils and adenoids were removed to help open his airway.  However, the pain and discomfort after surgey destroyed his desire to eat or drink by mouth.  He began to lose weight and was diagnosed with dysphagia.  He needed an emergency NG tube placed to keep him fed and hydrated.  This compounded his throat discomfort and he soon refused all eating and drinking by mouth.  We soon had the NG tube replaced by G tube surgery.  Jack stabilized with the G-tube and as he grew began to display signs of Autism, which was added to his long list of diagnosis.

We found therapies to help improve his visual impairment and he has begun to make "inch stones" too.  Jack for the most part is a happy boy in his own little "Jack World" he loves music and car noises and hates lawn mowers.

We know our boys have missed critical years of brain development and will likely live with us for the rest of our lives (if we are lucky) or to whenever this disease claim's them.  10 years from now I know the future will be so much different for WWOX infants and to realize that future we need to invest in the research to get us there.  Please help us support research and identify new therapeutic opportunities to improve the lives of Luke and Jack and their WWOX brothers and sisters.  Please donate and share!

Thanks,

Stephen, Karen, Luke and Jack