We got some good news this week.

For most of Gabe’s life we’ve researched and read, trying to figure out what caused him to be born with so many problems.  My mom was the first to bring up CHARGE syndrome to the doctors (big thanks to her for pointing me in the direction of the right diagnosis!).  The neonatologist told us that it was a possibility but after two chromosome and DNA tests came back normal, the diagnosis wasn’t pursued any further.  While we were still in the NICU but after things settled down a bit, I began actively researching CHARGE and became convinced that that would eventually be Gabe’s diagnosis.

In more than half the kids with CHARGE syndrome, there is a mutation in the CHD7 gene, which is located on the long arm of chromosome #8.  Finding this mutation requires a specific test.  When we went in for Gabe’s genetics appointment back in May, the geneticist ordered it.  We got the results back this week…

Gabe has CHARGE syndrome.

The news didn’t come as a surprise but definitely came as a relief.  We felt like we needed to celebrate.  After so many months of struggles and questions, CHARGE seemed like the answer.  I’d heard the doctor say on more than one occasion, “he’s one of a kind, not like any other kid” when talking about his complex array of medical issues.  But now we had a reason for all of his rare and complicated conditions.  With this diagnosis, we would know better what to expect long-term and we could understand past issues now that didn’t make sense back then.

Two years ago, if someone had told me that our son was going to be born with a genetic mutation that would cause many birth defects that would, in turn, require multiple surgeries, prolonged hospital stays, and cause developmental delays I would have been crushed.  Maybe, we might have even considered not having a kid.  If I had been told about the CHARGE diagnosis while I was pregnant, I would’ve focused on the bad news.  I would’ve been consumed with the heartache and it would have been hard for me to consider the joy that a child would bring.  If we had known when he was first born, it would have been a huge weight that would’ve had a negative effect on us. But that has all changed now.  I see that smiling face everyday and I forget about the hard times and the lifetime diagnosis.  I forget about the fact that he can’t sit up or crawl yet and remember that he’s starting to hold his head up now.  I forget that we spent the first 7 months in the NICU and remember that we’ve been home for almost 4 months.  I forget about the hearing loss and focus on his great vision.  The hard times are extremely hard but our happy times are extremely happy.  Yes, Gabriel has CHARGE syndrome but it does not define him.  He is medically fragile but so strong.  He has struggled to live but he lives happily. 

We wouldn’t trade our boy for any healthy kid in the world.  He is ours and he is his own kind of perfect.  We are completely fine and happy with the CHARGE diagnosis.  We know that he is so much more than just a diagnosis, and we can’t wait to see what he has in store for us in the years to come.  If anything, we know that because of him, our life will never be boring or “normal”, haha.


Feels Like Home

We’re back.  Back in the hospital, that is…for the fifth time since his discharge from the NICU.

Gabe hasn’t been himself for the past 2 weeks.  At first I thought he was just trying to get over his last sickness , but then we started to wonder if it could be his low hemoglobin and hematocrit or maybe lack of nutrition.  So we went in to see his doctor yesterday to try and figure out what was wrong with him.  After looking at Gabe and talking to me and my mom, the doctor decided to admit him for a few days and do some tweaking.   We were concerned that he’s wasn’t getting adequate nutrition so they changed his TPN recipe;   he’s been having a lot of gas lately so we’re switching formulas;  his H&H has been low for months so they gave him a blood transfusion;  his iron levels are low so they’re moving him to the PICU for 24 hours to give him some IV iron;   and he’s on an antibiotic for possible C-diff.  Lots of little changes, but hopefully it will be what he needs to get back to his crazy self.

These last couple months have been a roller coaster ride with all the re-admissions and a guessing game for us when trying to decide if/when we should make an appointment or take him to the ER.  But there’s a security and familiarity in being back at Willis Knighton Hospital.  I’ve spent the better (and the worst) part of the last year here. Walking through the hallways at Willis Knighton, I see the faces of doctors, nurses, and RTs who have become like family to us.  Most of the staff knows us by name and each asks about Gabe’s progress and are really happy with us when he’s doing well.  I never imagined that a hospital could feel so much like home, but since we’ve spent so much of our time here, I’m glad that it can and does.