Written by: Myra Holland
In March 2023 my husband Jake and I welcomed our first child, Wesley, after a seemingly normal pregnancy. However, our joy and excitement were short lived as Wesley was rushed to the NICU for seizure activity at less than a day old. It was every parents nightmare as we almost lost him at 3 days old to these newfound seizures.
For weeks we waited as test after test was done without any answers to be found. It wasn’t until the third week when the genetic tests came back that our lives changed forever. Wesley was found to have a dual heterozygous deletion of the WWOX gene which lead to the diagnosis of WWOX-related epileptic encephalopathy, aka WOREE Syndrome. The news was devastating. We listened as the doctors told us, our son will never walk, never talk, experience daily seizures, and will not live through his childhood.
Jake and I saw this as nothing short of the challenge it is. We decided to fight. Not just for Wesley but for children like him worldwide. This led us to the WWOX Foundation and my current work with them.
Shortly after making it home it became obvious that Jake and I would need an extra pair of hands to help us not only with day-to-day chores, but to split the intense care Wesley needs. This is when my brother, Nate, moved in with us to help us navigate this new world as “rare” parents. Wesley requires around the clock care for seizures, positioning, suctioning, feeding, and medications. At his worst he received 8 medications a day, whereas now he has thankfully cut that number in half.
Our most difficult days were back-to-back hospital stays for Wesley’s switch to the keto diet. After returning home from an easy transition to the keto diet, Wesley contracted rhinovirus for the second time in as many months. We struggled. Doctor after doctor came to the PICU as his seizure count reached 50...100...150. We couldn’t break the cycle and he was suffering more than I ever imagined I’d have to see in my child. Lucky for us Wesley is stronger than we ever could’ve hoped for, and he pushed through to come home after only 1 week.
The months after were filled with careful inch stones as we rebuilt the skills Wesley lost due to hundreds of seizures. Some skills like head and hand control came back easily, whereas others like leg movement and ease of breathing never came back. Plans for a trach were put in place in case of the next illness, and as a result we have taken extensive measures to prevent anyone at home from getting sick. This means missing holidays and saying no to family who only wish to visit Wesley during what little time he may have. The days where we say no, when we butt heads with doctors and make them listen are some of the hardest. We know our child best and will do whatever it takes to protect him. Often times, after we advocate for Wesley the doctors will see our point of view and help us to keep him home.
In the case of teething, we’re faced with the struggle of when, if at all, it is best to go to the hospital. By now we know Wesley’s teething pattern, it starts with drool and a fever and ends after an abundance of seizures when he cuts his tooth. The decision we have to make as parents is a difficult one, how many seizures is too many?
Most doctors in our care team agree over 20 is too much, but if they’re short enough he can stay home and avoid further illness. We have to make the call as parents whether he is suffering more from his seizures or from the illness he is guaranteed to contract during any in person visit, especially to the ER. It leaves us with questions.
Every appointment, every meeting, every moment, “are we doing enough?”. Often there’s no definitive answer and we’re left to figure it out day to day on our own. Any given day with Wes may seem routine, but we never know how it will go. Most days I stay with him and take him through stretches, medications, and his favorite activity – watching Bluey. Often times, this is the only moment he gets to sit up and see the world from a new perspective as he struggles to breathe upright for long periods of time.
Daily routines can vary though there are certain things which must stay the same and this is where mejo comes in. I began using mejo to compile Wesley’s daily routine, medications, therapies, and more to post in one concise page on the fridge. More recently, I used mejo to fill in Jake and Nate for the multiple appointments Wesley had when I was traveling to a rare disease conference. It came in handy for referencing everything from recent progress in OT to current medication doses (they change every month if not every few weeks due to the intractable nature of his epilepsy). The appointments went smoothly even though I wasn’t there to join in and add my two cents, they were already in his mejo. I plan to take mejo printouts everywhere now. It replaced our normal handwritten paper covered in scribbles and scratch outs. Now one lives in his diaper bag, one for doctors appointments, and one for caregivers on the rare night out.
The best feature of mejo is medication tracking as it is so useful for our family. Wesley has 4 daily medications which change often and 5 rescue medication protocols. Keeping track of all of them and remembering in the rare emergency we need them can be difficult especially in the moment they are needed most. Overall, mejo has made an otherwise difficult situation easier to navigate and offered peace of mind that none of the little details will be lost along the way.
To learn more about WWOX related syndromes go to https://www.wwox.org
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