Before moving on, I want to thank each of you for following our story. More importantly, a genuine thanks to each of you who have been praying for our family and for our Asa. You are each a part of his testimony, I truly mean that. It took us a few days to include the world, via social media, on what we were experiencing since his birth. Many of you were so quick to rally around us with your prayers and support. We were so moved by how Asa’s life was moving hearts around us. To hear that people were even moved to tears meant more than I can put to words. As parents, we feel loved when those around us love our kiddos and SO many of you loved on our Asa from afar. Even Koa got a few gifts throughout that time! We couldn’t be more thankful for the way our family was supported. Cards in the mail, cash for convenient meals, dinner deliveries, family coming from out of town, family & friends taking Koa for the day; it all helped so much. So again, from the bottom of our hearts, thank you. You know who you are.

Now, where did I leave off? Oh yes, when God delivered us from a pain that we were expecting to carry for the rest of our lives! Since Asa’s chromosomes came back completely clean, the geneticist told us that whatever we found thereafter, his life expectancy wouldn’t be threatened. I didn’t know whether to hysterically laugh or cry. Everything in me wanted to weep tears of joy, but I didn’t. I actually didn’t cry again until almost a week later, which felt SO GOOD. I had cried at least once within every waking hour for a week. I either didn’t have any tears left or I was enjoying the break. I finally held him, talked to him, talked about him, and was away from him without crying.

About a week after hearing the good news, another more specified test came back that told us what Asa’s diagnosis was. Saethre-Chotzen Syndrome [pronounced (Sayth-ree)-(Chote-zen), SCS for short], the geneticist said. Although not rare to her, as this is her field of study, this diagnosis had every doctor around us asking Google for more info. Between centuries of experience, not one person in the NICU had heard of this syndrome.

What we know about SCS: We can expect normal intelligence and a normal life span. There will likely be minor developmental delays.. we can deal with delays people! Symptoms vary widely and differently within each person, so the more Asa grows, the more he’ll tell us what his needs are. This is a rare syndrome associated with craniosynostosis, meaning the skull fused prematurely. Asa was born without soft spots and we don’t know when they closed in utero, but it is why his head is shaped the way it is. His brain is growing while there is no where for it to grow. They will do neurosurgery in a few months to open these sutures to allow room for his brain. Only 5% of kiddos with this syndrome have issues breathing and eating, which Asa has. Through weeks of trial and error, we finally discovered he has mid-facial hypoplasia meaning the bones in his mid-face are small or abnormally shaped. He also has a very high hard palate and a cleft soft palate (soft part of the roof in the back of the throat). The high palate doesn’t allow him to get a good suck for breastfeeding. He has issues managing his own saliva, let alone food. He has obstructive sleep apnea (also rare for this syndrome) and a hard time keeping his oxygen saturations high. He has a pretty large ASD (hole, also very rare for this syndrome) in his heart that will be fixed when he’s a toddler. This syndrome affects the way the skeletal system forms, hence all the bone abnormalities.

[I wrote out all those details mainly if other parents of a child with SCS find this. As I started reaching out to support groups of parents and people with SCS, I didn’t find anyone else who had ALL of these issues.]

More common details regarding this syndrome: it is autosomal dominant and since neither Ryan nor I have SCS, this is a random mutation that occurred at conception. There was no way we could have caused or prevented this from happening, it could literally happen to anyone (I can’t tell myself that enough). Asa has a 50% chance of passing this to his offspring, but the geneticist assured us that as science progresses they will probably find ways around this by the time he’s having kids. He may have hearing and/or vision impairment. He will be followed as an outpatient until he’s 18 years old and he may need a handful of different surgeries throughout childhood. Most adults with SCS lead very normal lives with normal intelligence.. they just look a little different.

Even though all of his rare abnormalities are pretty overwhelming, we have a weird gift of perspective. Considering how horrifying his false diagnosis was, we feel in some ways this is our best case scenario.

What all of this means for right now: he will come home with a g-tube (feeding tube in stomach), oxygen, sleep apnea monitor, a nebulizer for respiratory treatments, a suction device so we can help manage his saliva, a few different medications, and a pulse oximeter to monitor his oxygen saturations. It’s pretty overwhelming for me, for both of us. I’m still mourning the ‘normal’ baby I was expecting throughout pregnancy and at birth. Our small home is about to become a hospital.

We’ve been through ups and downs here at the NICU. I can’t believe it’s been 50 days. He’s been intubated twice, had a CPAP mask that he hated, gone through surgery, had multiple tests and scans, had infections, been poked with countless needles, etc all in his short 7 weeks of life. It’s a strange thing to visit and leave your baby at the hospital. Most times I leave I’m unsuccessfully holding back tears as I say good-bye, or I’m telling myself ‘just wait until you get to the car to cry’. Specifically as a mother, it’s strange to not be with my baby. I carried him for 9 months, he should still be attached to me. There’s an instinct we have as parents to protect our children and I haven’t been able to protect him since he’s been in the hospital. Although the nurses are so loving & kind to him, there’s a lot of physical pain and discomfort that he’s had to endure in order to get better. Pain I couldn’t save him from.

Anyways, this is all still an adjustment. We’ve been told this first year will be the hardest. Trying to take it one day at a time because looking any further is too overwhelming. We can’t wait to bring our baby home and find our new normal.

You see so many awful circumstances being in a children’s hospital. Some I am envious of as they seem less severe than ours, but most I cannot fathom. And while many have said they couldn’t fathom what we are going through, we all rise to the occasion in front of us, don’t we? We have endured our circumstance because we’ve had to. There’s no way around but through. Even if it’s beyond what we thought we were able to handle. Each of you reading is going through your own struggle, your own unknown, your own pain. I speak to each of our hearts as I say, arise. This is your moment of both weakness and strength, this is when we find out what you are truly capable of.