Luke & Jack
Luke was born in 2015 after a healthy pregnancy. Our journey started when Luke was a baby and started falling behind on his milestones. At first it was blamed on torticollis and we thought that maybe he was just a slow developer.
Then at 10 months old he had a very long tonic-clonic seizure and we nearly lost him. The paramedics came and revived him and took him to the hospital where he continued to have many seizures.
After a few days and a number of drugs, the doctors where able to stop the cluster of seizures with combination of Oxcarbazepine and Keppra. Luke was diagnosed with Epilepsy. His neurologist explained to us that his developmental delays had to be related to the epilepsy, so she ordered many tests over the course of the next year to try and find the root cause. Eventually we found the cause through genetic testing which detected two different WWOX mutations one from Dad and one from Mom.
Luke has low muscle tone and receives physical therapy, occupational therapy, speech therapy and hippo-therapy every week. He also has had many feeding/swallowing problems due to his overall low muscle tone and sensory processing disorder. He is able to eat some finger foods and we spoon feed him.
He is followed by a GI doctor due to feeding and digestion problems. He has consistently been on the edge of requiring a feeding tube due to his low weight for his age.
Luke required a very high dose of Keppra to keep his seizures under control and this caused really bad behavioral issues so we had to switch to a different combination: he is now on Epidiolex and a low dose of Keppra, it has been working great. Though every once in a while, he has break through seizures and we need to adjust his doses.
Luke cannot walk or talk. He has a wheelchair, gait trainer and a stander, he wears orthotics to help him stand and keep his body aligned. He is learning to use an iPad with different speech apps for communication.
Between us, the therapists and his nurse we work hard with him each day to gain more mobility skills. He can give steps when supported either by us holding his torso or his gait trainer. We hope that one day he will be able to walk independently with his gait trainer.
He has had pelvis and hip issues due to not consistently bearing weight like a typical child. His primary way of moving is by rolling over and he loves it! He has high astigmatism and strabismus. He attends integrated classes at school where he receives therapies, special education and has a nurse who cares for him.
Luke is a happy little boy who loves books, school, music and animals especially horses and dogs.
Jack came to our lives in June 2018. Because of Luke’s diagnosis Jack was tested right after birth specifically for WWOX related epileptic encephalopathy. About a month after he was born, we received the test result and it came back positive.
Despite the diagnosis, he seemed to develop like a normal baby and was doing many things that his brother struggled to do. We were optimistic that Jack might have a different outcome than his brother and be spared from many of his hardships. However, when he was 4 months old he began seizing. After a brief hospitalisation, he was put on Keppra which controlled his seizures and we thought we were in the clear.
He continued to develop and was nearly starting to crawl, then all of a sudden, in early 2019, he started losing skills and he seemed to no longer be able to track any objects with his eyes. We contacted his neurologist and she ordered another EEG. During this EEG, Jack was diagnosed with West Syndrome (Infantile Spasms). The doctor informed us that this new type of seizure was extremely devasting to brain development and we needed to get in under control quickly or he would continue to lose skills. He was quickly put on Vigabatrin to treat the Infantile Spasms. After 7 months of treatment we confirmed with another EEG the devasting hypsarrhythmia caused by Infantile Spasms was gone.
During this time Jack was diagnosed with CVI (cortical vision impairment) and was pronounced blind after being seen by an eye doctor. We began to search for resources for Jack’s vision. He is now seen by a TVI (teacher for the visually impaired) who has provided many resources to help Jack develop his vision again. He has made some improvements and is now able to track objects if they are close to him. He is in an early literacy program for Braille and we hope he will become a dual reader one day (Braille-regular adapted alphabet).
Jack can sit up very well but doesn’t walk or have any words besides “mama”. He receives physical therapy and speech therapy through the Early Intervention program. Jack has orthotics and is now starting to tolerate bearing weight on his legs.
Jack also eats by mouth purées and other soft foods as he has difficulty chewing and swallowing.
Jack is a little boy who enjoys light up toys, rattles, textured books and of course fart noises!