We were fortunate enough to know within days of Dax being born, that he had Pontocerebellar Hypoplasia (PCH), but it all depended on the genetic results to diagnose his type. There have been approximately 115 cases world-wide with PCH and there are a handful of genes that are “commonly” seen as a reason for PCH. There are 13 different types of PCH and within those types there are subtypes. After 8 weeks – we FINALLY know the details of Dax’s diagnosis. He has been diagnosed with PCH Type 8 which is specific to a CHMP1A gene mutation. It has only been seen in 6 people in the world, to date. Within this group of individuals Dax is the only person that has deletions in that gene as most mutations consist of a “typo” within the gene coding. The chances of this happening are literally less than one in a million. So rare that researchers have already reached out to our medical staff to inquire about adding it to medical literature as the first case found in humans. As we’ve searched for answers, we’ve learned that NO child can be compared, and each have their own individual journey.
Our next step will be DNA testing to confirm that it’s autosomal recessive. There’s always that chance it could be a spontaneous act of nature (de novo). We’re grateful for technology, we can pass this information on to the next generation in our family, and families across the world that find themselves in similar shoes. We’re grateful for the team of doctors that have worked endlessly to provide us answers. And most importantly, we’re grateful for Dax, he’s put everything into perspective on what matters most. We now find joy in the simplest things and we don’t stress about the small stuff. Dax’s diagnosis can’t be changed or cured. The doctors have recommended that we stay cautiously optimistic. But, we find peace knowing that he’s in control of his journey. When he’s ready to be healed, and ready to run and play up above, he’ll let us know.
The little guy turned 2 months old last week and it’s amazing how strong and healthy he is. He’s definitely living up to his name.
Nothing prepares you for parenthood. I thought we had EVERYTHING we needed to become parents. With Dax being our first baby, and staying close to home due to the Covid-19 pandemic, I nested to the extreme. And I was STILL scrambling at the last minute to find a bedside bassinet that would work for Dax and trying to figure out the best place to hang his pump for his feeding tube before we brought him home. We found ourselves going though things we bought for Dax and packing up the car with toddler age stuff to return. Never in a million years did we think we’d be standing in line at UPS to return things we probably wouldn’t use while our son was in the hospital. I’ve learned that not everything can be planned and to look at what’s on the calendar for today and not to worry about next week or next month, or the next 6 months. We’ve learned to take the day for what it is and to celebrate it. When you have child that has a shorter time earthside, you get a HUGE wake up call that tomorrow truly isn’t guaranteed. God has given us the ultimate test. His plan is already written, and we have to trust it as it unfolds. It’s up to us on how we handle it – we’re putting one foot in front of the other every single day. We’ve found strength we didn’t think we had, and our marriage has grown even closer. We believe that God does not take without giving back. We know all we need is each other, our families, and the support from our circle of friends. The sea of people that have reached out and have prayed for us is a big bonus too. We’ve learned that there are still SO MANY genuine people in a world that’s so disposable. We look at the framed photos on the shelves in our living room, and think, “How did we find things to stress out about before Dax?” We know that our lives will be simpler and more care-free because of Dax. His diagnosis has really put things into perspective. After being hit with multiple freight trains, it’d take something catastrophic to phase us. We’re learning that it’s simplest things in life that’ll bring you joy. Have you ever stopped long enough to truly think about what actually makes you happy?
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A post that Tyson found that has helped us:
How do you love a child you know will die young? You love recklessly, with abandon. You don’t mean to – but you can’t stop yourself. Parents of terminally diagnosed children actually love harder, I think, because we know. We know what’s coming.We are blessed in a way, because we don’t feel compelled to ‘create’ them or ‘mold’ them into the best versions of themselves. We know we don’t need to mold our children into adults. So instead, we let them be. There’s already so much they have to endure, we won’t heap criticism and veiled loving suggestions upon them.When those factors are taken out of parenting, we are left with a wide open space. One where we are free to give them unconditional love in its most pure form. And we do. We just love them. And when a parent has that opportunity to just love their child, a beautiful thing happens.. that child naturally flourishes into something quite unique. As parents of these remarkable kids, we so often hear that they are so innocent, so accepting of others, and of situations. That they are pure, kind – almost angelic like.I feel, in my heart, that our kids indeed do become these rare, remarkable people… But they don’t become this way because of their diagnosis or disease.. I think, in part, at least, they become this way because of the pure way they are loved. We, as their parents, give them the opportunity to flourish wild like, without pruning. By giving love in its purest form, without hypocrisy, without the need to constantly nip or push, mold or direct, the soul inside that child flourishes (for however long their life may be). And as that child’s true self begins to unfold, it’s like watching a rare, exotic wildflower unfurl it’s petals one at a time. It’s better than magic. It’s the reason why so many of us parents hear that our child draws people in, that they make others so happy, that they light a room by simply being in it. Yes, having a child with a terminal diagnosis is absolutely as hard and painful as everyone assumes it is. And yes, having a child with a terminal diagnosis is physically and psychologically exhausting. But what so many people don’t know, is that in having a child you know will die young, we parents are given a precious gift. We are allowed to love them full throttle. And when we hold our children, we don’t have that voice in our heads asking if we are doing enough to shape them into better versions of themselves, to shape them into the best adult they can be. The only voice we have in our heads is the one that constantly reminds us that their time with us is fleeting. So we hold them closer and love them even harder today, than we did yesterday.
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This next post was mailed to us from some of our best friends. The day I read it was the time I needed it most. Dax is our sweet, perfect little tulip.
Ozzie lasted 2 nights trying to keep up with the new routine.
We’ve always been planners, we’ve pictured and planned our future. Life throws curve balls and we know we’re going to learn so much from Dax. He’s already teaching us both to enjoy the simplicity of life. We know our lives will be sweeter because of him.
The Story of Dax Wilder 