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 and 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, that the
internet is full of worst-case scenarios, and that everything will be fine. 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, an
extremely 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.
We were suddenly confronted with the horror that our perfect little baby might never be able to
walk, never be able to talk, and might not make it to adulthood. 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 baby 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 out there who are conducting the cutting-edge research
that may provide a future treatment, and restore Connor’s future.
Please help us support them too.