2 years, 3 months…

…a 6-week NICU stay in the hospital 

…3 other hospital stays

…5 sleep studies

…8 blood draws (not including the hospital stays)

…67 doctor’s appointments

…635 therapy sessions

Owen’s life sure has been busy! Clearly I have been reflecting on this time and how our lives have changed since our sweet one’s arrival. Why, you may ask? Well, after three rounds of genetic testing showed nothing, we had whole genomic sequencing (WGS) done and something actually showed up. We have a diagnosis. Whoa. Deep breath mama.

Owen has PURA Syndrome, a neurodevelopmental disorder, which is caused by the fact that one copy of a gene he has is not working properly. If you care to learn more about it, you can click here and read about it on the PURA Syndrome Foundation website. It’s newly discovered – 2014 – and just over 300 cases have been discovered world-wide. Yep. My boy is rare J No news here!

The handful of people that I’ve told this to so far typically ask how I feel about finally having a diagnosis. It’s weird – I don’t feel a whole lot. I thought maybe I’d be more relieved. Don’t get me wrong – I do have relief on certain aspects. I constantly had a pit in my stomach because his delivery didn’t go so great and a piece of me thought that if I had done better that day this could have all been avoided. But that pit is slowly fading now knowing it had nothing to do with that day. (Special shout out to Dr. Sara Berkelhamer here. She was Owen’s first NICU doctor at Children’s Hospital and within a few minutes of her team meeting us, she looked directly at me and told me that nothing that I did caused what was going on with him. I really really really wanted to believe her but always had a piece of me that didn’t. Thank you Dr. B. You were totally right.) 

After looking at the common features for the syndrome, 80-90% of them apply to Owen. So that, combined with the fact that we have watched him very slowly but steadily progress over the past few years, didn’t result in some overwhelming emotional reaction upon receiving the diagnosis.  Maybe I’m still processing it? Not sure. There is no crystal ball to see what his future will look like. All we can do is move forward, keep our faith and hope alive, and that is what we shall do!

Speaking of moving forward – remember all the previous posts where I’d cross my fingers that the next sleep study we could ditch the oxygen concentrator? Well, IT IS FINALLY OUT OF OUR HOUSE! His CPAP machine has replaced the need for the oxygen and praise God it is much quieter than the concentrator. That was a bittersweet moment for me earlier in October. 

I will take the next few months to really research into the syndrome so that I can be the best advocate I can for my son and the other 300+ kiddos diagnosed worldwide. Don’t be surprised if you hear from me in the future, attempting to educate and increase awareness. After all, what else would a mama do for her babies?

Speaking of babies – Owen became a big brother back in April, so we now have one girl and three boys (much to big sister’s dismay – but she loves her baby brother. And someday will realize how much more that works in her favor!). Over the past few months Owen has been doing more and more physical things that he never did before. Is it because he is growing and developing? Probably. Or is it because he has a super active, super physical little brother that is pushing him to do things he’s never done? Perhaps. Either way…life as a family of six has been an adventure. Navigating school, pre-school, 12 therapies a week and an infant is tricky, but we are getting the hang of it. 

I’ll leave you with this little chuckle…

I grabbed my kiddos water bottles to wash yesterday and I looked down at the silicon cover I removed from the metal water bottle and started laughing (and maybe had a few tears fall). I walked down to Matt, showed it to him and said, if only we took the signs seriously. I mean really, how ridiculous is this? I bought these water bottles about a year and a half ago...

Things I am grateful for this day:

1)     While I’m more often than not stuck in the day-to-day routine, my hubby keeps the bigger picture in mind and continues to think outside the box. Thank God.

2)     The Parents of PURA Syndrome (POPS) group that has so graciously welcomed Owen and our family into their support group. 

3)     That Halloween is over. Am I the only one that thinks it was more fun before we had kids? It’s still fun. Just not as fun, ha! (Perhaps it's the constant costume changes?)