It has been a few days since last we sent out an update, and - though it was the weekend - much has happened.
A few quick notes before we come to the heart of it ...
· Samuel has been moved to another, quieter ‘bay’ in the NICU. He had been in sort of the center of the room and now we are off in a bit of a corner with some curtains for privacy if we want it - we’ve even got a window.
· We met another couple today whose son was not expected to live but a few minutes after delivery. His name is Cohan McGowen (I’m not sure the spelling, it’s pronounced “Co-en”.). His father is also in ministry here in
· Samuel is altogether off the IV (I can’t remember when this happened, so I may have already mentioned it.) It’s really a joy to have him be tethered to one less thing. On Sunday afternoon the nurse even unplugged him from the remaining two monitors and we were able to hold him free fully untethered. That helped things feel a little more ‘normal’ for a few hours.
· He’s up to full 70ml feeding now and tolerating them well, save for some spitting up today (but we think that has more to do with the method of feeding than with Samuel - we’ll get that figured out at home when we don’t have to answer to nurses).
· Samuel had another heart ECO this morning. It revealed that there wasn’t enough change one way or the other to warrant any definitive action, other than to keep watching him and his aortic arch and see what it does. There is a bit of a thinning of the arch that is? may be? hindering the flow of blood to his lower body. Samuel is to have an X-ray tomorrow, continuing having his blood gas, blood pressures and pulses checked and get another heart ECO on Wednesday. If that ECO is worse, then we may be looking at a trip (of several weeks) to
· We are thankful to have a fellow Redeemerite (Dr. Kristy Carter) as our resident for the coming weeks. It is a great comfort to have people around us whose perspective (medical and personal) is built on the same foundation as our own (on our good days, any way).
Now for the heart of it ... Saturday, Sara and her mom were up at the hospital with Samuel when our geneticist called and wanted me to come up b/c he had a diagnosis for us. Long story short, after several other things came back negative, the geneticist is almost certain (we’ve a blood test in the works) that Samuel’s issues fit into something called “C.H.A.R.G.E. Syndrome” or “C.H.A.R.G.E. Association.” Association may be the better word b/c there are several major and several minor characteristics within which there is a fairly broad range of presentations. As we have read over the literature we’ve been directed to by our doctor we see that Samuel fits.
Before you open a new tab in your browser and google “CHARGE” ... let me describe it a bit to save you some work:
C = coloboma (the missing tissue in the eyes)
H = heart defect(s)
A = ‘atresia’ - has something to do with the nose and throat
R = retardation of growth
G = genital / urinary abnormalities
E = ear anomalies
This is how it got it’s name. Now it is divided into major and minor features, of which Samuel has four of the former and 2-3 of the latter. CHARGE effects approximately 1 in 10,000 births. Our geneticist has begun to prepare us well for what this might look like over time. Some things of note at this point: there isn’t anything that’s life-threatening, as long as the medical issues (holes in the heart, for example) are fixed; individuals with CHARGE are expected to live a normal life-span; many experience some level of deafness and blindness. This latter bit has been a really hard pill to swallow for me and Sara. Samuel will have his hearing screening sometime this week. Please pray that his hearing would not be largely affected.
We have been directed by our doctors to several good resources and we have delayed mentioning this diagnosis broadly until we have had a chance to process some of this on our own. At this point, that is how it would be most helpful for us to proceed. At some later point, we might ask for assistance in researching CHARGE, etc but at this point we are not looking to become experts on CHARGE, we just want to become experts on Samuel.
Grateful for your understanding, generosity, prayerfulness, faithfulness and love & trusting Jesus for new mercies for tomorrow,
grant & sara
