Xavier, our first and only child, was born in June 2018. It was an uncomplicated birth and Xavier was such a cute and healthy baby.
Xavier and our WWOX journey began in July 2018 when we noticed him holding his breath and turning purple. We rushed him to the hospital and found out he was having seizures. A number of diagnostic tests ensued and there was some suggestion that Xavier could be suffering from a herpes infection. The doctors even pulled us aside and asked us about our personal life and who in the family may have herpes.
However, once the test results came back negative, herpes was excluded. Xavier was then started on some anticonvulsant medications which were effective on suppressing his seizures.
As Xavier grew older and bigger the medications lost their efficacy and Xavier's seizures returned, although in a different way - he now had seizures which resembled infantile spasms. After five months passed, Xavier was started on ACTH injections for a month. Unfortunately ACTH did not work apart from making Xavier very grouchy.
We then got to a point where genetic tests were ordered in an effort to find an underlying reason for his seizures. In January 2019 Xavier was diagnosed with WWOX - a very rare genetic disorder. As parents we didn’t want to accept it. We searched online for information about WWOX but could find very little information.
It was recommended that Xavier received in-home Physio and Occupational Therapy to counter the delayed development associated with WWOX. The therapy help him a great deal.
Xavier then had surgery to input a G-tube that helped with his feeding habits as it took him almost 1 hour to drink from a milk bottle. We noticed that he was losing energy from swallowing as he puts so much effort in drinking.
As the months passed Xavier would be hospitalized not for his seizures but for a cold that turned out to be very dangerous for his condition. Hospitalizations became a normal thing for Xavier and during the period of 2018 to 2019 we had four very long hospital admissions.
In July 2018 we decided to get a referral for a second opinion to see a genetic/neurology Doctor at Stanford University Hospital. We received awesome support and they exactly knew what was wrong with him and what can be done to support his life. We were advised to try a different medication which unfortunately didn't work but put in place a plan to start the ketogenic diet when visiting the hospital the next time.
In October 2019 on our way to the Stanford University Hospital in San Francisco, Xavier was admitted after picking up a serious infection. This was a very scary ordeal. Xavier ended up being intubated and remained in UCSF hospital for a month and was then transferred to the pediatric intensive care unit (PICU) at the Kapiolani Hospital in Honolulu, Hawaii where we are from. Xavier remained in PICU for another 2 and a half weeks which brought the total amount of time in intensive care to almost 2 months. During this stay in the UCSF hospital, the neurologist and geneticist made an effort to see him there rather than going to go back to Stanford University Hospital. They dramatically increased his seizure medications and so far we have luckily not seen one infantile spasm-like seizure again. They changed Xavier's G-tube feeding to a JG-tube as Xavier was at risk of aspirating fluid / feed in to his lungs.
During the following months we were told to expect the worst, but Xavier proved everybody wrong. He is now in two litres of oxygen when he is sleeping which really helps as he suffered significant oxygen desaturation while asleep.
Xavier has gone through so much but he is a little fighter - you can see it in him. Our special Xavier will always be cared for and as parents we will do anything to keep him alive, comfortable and treat him as a normal loving son!
An adaptive stroller is on its way and we can’t wait, it will help him to sit up straight and improve his head and neck movement.
It is our hope that sharing our story would help to raise awareness of WWOX and support our team. WWOX is a real deal that most people never heard of. We appreciate that you have taken the time to read Xavier's story and learnt some more about our special WWOX kids and our situation.
Aldrin Cabasa (dad)
Karen Joy Cabasa (mom)