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?)

Slow as Molasses - but still moving forward!!

(Skip down if you just want an Owen update J)

It’s pretty natural at the end of each year to reflect on what happened and the things you want to change going forward into the new year. My end of 2018 reflections brought me to tears – for no real reason other than the shock that I didn’t think things could get much worse than the end of 2017…and it turns out the beginning of 2018 was so overwhelming I felt like I was drowning (See side note below). To add insult to injury – I for some reason decided, after getting the flu and being sick for nearly the entire month of January, that it would be a good idea to train for a 5k run (this was courtesy of a Lenten Challenge by Catholic Women Run…I would’ve never came up with that idea on my own). Now, anyone who really knows me knows the following: 1) Me and long distance running have never been friends. I was a sprinter in high school…100m max. My coach put me in a 600m race once to see how I’d do and it was probably the closest I’ve ever felt to having a heart attack as a teenager and 2) Since college, me and running ANY distance in general are not friends. But, I needed to feel like I was making a true Lenten sacrifice that year. I, in some way, needed to choke out the first two months of the year from my brain with something that would really take my mind off of them. So naturally, suffering by running seemed to be a logical choice (I know. It’s ridiculous.). I think part of me really (un-Christianly) envies runners who enjoy it and even thrive off of it. What’s it like to not only enjoy running, but, actually have it be a somewhat euphoric experience and crave it? 

My Lenten journey did not bring me to an answer to those questions, in fact, it made me dislike running even more, and when that 5K was done in May (I made it to the finish line!) I “retired” immediately and every time I saw someone running I made a point to say a blessing for that person and thank God it wasn’t me! What my Lenten journey did reveal (through daily journaling, prayer, and some variation of training) was exactly what I needed: peace with suffering. (I’d like to just insert here that I absolutely realize my suffering is not near that of others. There are much much worse things to be going through. And everyone suffers differently. But at that moment of my life, that is what I felt, and that was exactly what I needed). That peace has offered me the ability to get through each day’s challenges and accept whatever I come face to face with. Does that peace wavier from time to time? Of course. But it’s a lifelong process, and Lent 2018 gave me some important tools for moving forward with peace in my heart.

So what about this year? Lent couldn’t have come at a more perfect time. I sit here, almost 9 months pregnant with our fourth child (due in late April), and I’d be lying if I wasn’t fearful for what managing a household with three children, one with significant delays and needing a lot of attention, along with a newborn babe. And I’d also be lying if I said I wasn’t fearful that something similar could happen to the new baby that happened with Owen. So, my goal for Lent 2019 is to attempt to replace fear with peace. I know it’s not going to be easy. But a little peace in my heart going into life as a family of six would do everyone some good! 

Owen Update

He is still undiagnosed and we are still working with genetics doctors, however, everything that we have tested for has come back negative. Back in November, O had surgery to remove his adenoids in hopes it would help his apnea. Well, it definitely did help, however not enough for it to be out of the severe range. He is so close though. Either way, an improvement and I think even since then he has improved a great deal. He had a sleep study the other day to give him some more time after the surgery to heal and to test out whether or not the oxygen he is on at night helps his apnea at all. So next week we will be able to see if we can really ditch the oxygen concentrator or not. Looking back to my December 2017 blog I was so hopeful that we were going to ditch it then...ha! I am more hopeful at this point, however, a lot more realistic and accepting if he’s just not ready. He continues to move at his own pace and that is fine by me! 

Big physical changes since September – he holds his head up no problem, is sitting on his own for extended periods of time, can roll over from his back to his belly and is really using his hands more to grab things. His feeding has improved significantly and we are working with a speech therapist to get some basic communication down (non-verbal). He does make sounds, just not words. We recently had a “family meeting” with all of his therapist and looking around the room I couldn’t have been more grateful for all of his amazing therapists – which I lovingly now call the “dream team” because they are just that! 

Things I am grateful for on this last day of March:

1) My body’s ability to grow and nourish our baby. And the strength to carry a 20-month-old child around with a large belly.

2) Millie’s Kindergarten teacher. Talk about hitting the jackpot – she has really fostered a love of learning in her so early and I am truly grateful for that.

3) O’s Dream Team: Danielle, Kim, Marie, Stacy, Denise, Jackie and Jessica. They really are the best!

Side note:
Every week I load my boys into the van and drive to O’s swim therapy. On the way Luke insists we listen to a CD that we got from Vacation Bible School last summer and for months, song #2 just put me into tears, and in particular these lyrics…

I won't fear what tomorrow brings
With each morning I'll rise and sing
My God's love will lead me through
You are the peace in my troubled sea
You are the peace in my troubled sea

My lighthouse, my lighthouse
Shining in the darkness, I will follow You
My lighthouse, my lighthouse
I will trust the promise
You will carry me safe to shore
Safe to shore
Safe to shore
Safe to shore

Here’s the whole song, My Lighthouse by Rend Collective (which, the version on the kids CD is much more up-beat and “kid friendly”): 

Not fearing what tomorrow brings. God’s love will lead me through. And even in trouble, He will carry me safe to shore. Phew!