Theodore Lehman was born in May of 2014 in South Bend, Indiana. He was our first child, had a healthy pregnancy, and no sign that anything was wrong.
Shortly after birth he had some eye deviation and twiching, so he was taken to the NICU and one seizure was seen on EEG. After 24 hours no further seizures were seen and we were sent home.
Over the next months his condition would slowly unfold with local neurologists realizing the situation was far too complex. At that time (2014) the epilepsy panels did not contain WWOX as an epilepsy-linked gene, and so those tests returned as "normal".
Finally a microarray was done and we found out he had a deletion, but again, no epilepsy was associated with WWOX at that time. Riley in Indianapolis, Lurie in Chicago, and Cleveland Clinic treated our boy. Finally Dr. Pestana-Knight at Cleveland Clinic found a research article by Mignot that explained the role of WWOX in epilepsy. Finally we had our accurate diagnosis. Dr. Pestana-Knight took amazing care of our Theodore.
Today things have advanced and WWOX is on the early infantile epilepsy panel. So, parents can get this diagnosis much faster.
Theodore had multiple seizure types in his life, first they were only one sided, then moved to the other side weeks later, then they were categorized as multi-focal and migrating.
Then we had infantile spasms. He also had seizures where he stopped breathing. Due to all the seizure activity, he became mostly blind. They were never fully controlled, though we tried countless medication combinations. He had a g-tube for feedings and needed oxygen to help him breathe, especially during seizures.
Theodore's gene deletion is inherited from his mom and his dad. There was no family history of epilepsy and no genetic relation in his parents. The gene loss is called compound because the loss on each side is not identical. Mom passed down a slightly different deletion than dad, but both deletions affected the WWOX gene, rendering it unable to function. Theodore lived for 10 months when he passed away in hospice care. He loved bright lights and holding his favorite toys. Theodore never attained head control or the ability to roll over. He did exhibit 2 or 3 social smiles in his life. He could vocalize at times and kick his legs when excited.
He was a beautiful boy and we miss him dearly