Connor is our perfect little guy. He is so cute and wonderful. He has his mom’s luxurious hair, and his dad’s charming dimples. He is brave, tough, and super-sweet. He was a good baby, and now an adorable toddler. His mother and father love him so much it hurts.

The first few months after he was born, the doctors gave him a perfect bill of health, and likewise, everything was perfect in our lives. Perfect until we made a heartbreaking discovery on our own. We noticed that Connor had nystagmus, a high frequency trembling of his eyes that could signal a serious neurological condition. At first our doctors told us not to worry, everything would be fine, and not to believe the worst-case scenarios we read on the internet. Nevertheless, we kept pushing to learn more, and every step of the way the diagnosis worsened. As we learned the hard way, sometimes the worse-case-scenario happens to you.

We know now, as confirmed via genetic testing, that Connor has TUBB4A Leukodystrophy, a rare neurological condition which results in hypo-myelination of the brain. This condition delays and impairs the development of his motor skills, and eventually results in the slow deterioration of his nervous system. Those affected rarely reach adulthood.

We were suddenly confronted with the horror that our perfect little baby might never be able to walk, never be able to talk, and could be taken from us at any point. All because of a random mutation in one single base-pair of his DNA. We were devastated and heartbroken.

However, we couldn’t allow ourselves to mope around. Connor is still the same happy and wonderful toddler who spends all day laughing and playing. So, we continue to be a happy family, and try our best not to dwell on the coming challenges.

Meanwhile, we are doing all we can to help support the few brave doctors and scientists who are conducting the cutting-edge genetic research that may very well lead to a treatment in the next few years that would restore Connor’s future.

Currently there are multiple promising streams of research for potential treatments being carried out at Children's Hospital of Philadelphia (CHOP), University of Massachusetts (UMass), and Yale. We hope to have one of these treatments ready for clinical trials in two years. However to fund this research, and the subsequent clinical trials, we will need your help.

Please help us support the research into treatments for TUBB4A leukodystrophy. Please help Connor and those like him. You can make the difference in finding a cure.

100% the funds donated here are passed on to the Foundation to Fight H-ABC in the US , or the H-ABC Foundation in the UK., and are tax deductible.

Thank you for your love and support,

Michael, Diana, & Connor.

A Cure for Connor

By The Gooleys

A Cure for Connor

Connor has TUBB4A leukodystrophy, a rare genetic condition which impairs and degrades his neurological development. As a result he will not be able to walk or talk, and he will not make it into adulthood unless we find a cure.