Saturday, August 17, 2013

Charlie's CF Diagnosis

Hi everyone! I know I've been doing a lot of CF posts recently, sorry about that! I've been reading other CF mom blogs and keep thinking "hmmm that's a good idea to write about" haha so today's post is no exception.  When reading these blogs the first thing I do is look for a "diagnosis" story, I find it interesting to hear their stories and thought maybe I'd do one myself.  I'm not sure why I never wrote it before, I kept Charlie's CF a secret on the blog for quite some time and even then only mentioned it briefly.  I guess it was all a bit too raw at first, but now I'm more comfortable discussing it I suppose.

These are the faces of a very worn out family after the birth from hell

I'll start from the beginning, when Charlie was born (10 days late I might add.  Lil stinker).  His birth was an attempted home birth that ended up an emergency C section at our local hospital when 5 hours of pushing (and 17 hours of labor) hadn't yielded my baby.  My heart rate sped up, Charlie's heart rate sped up, and I was starting to get a fever so we transferred to a hospital to err on the side of caution.  To say it was traumatic is putting it mildly, but I won't get too much into it.  Anyways, once Charlie was out his apgar score was low so they did a bunch of stuff that I wasn't there to see and I barely got to see him.  30 minutes later they brought him in to my recovery room and I finally got to hold him, my 9lb 3oz little booger, cute as a button and so aware and alert.

One day old, so tiny and aware

SN: In retrospect the attempted homebirth could have ended in disaster with a child with CF.  A portion of newborns with CF are born with an intestinal blockage called meconium illeus, and they need surgery.  We were very lucky this didn't happen to us.  Homebirths are very safe with a healthy mom and baby, however we didn't KNOW that we wouldn't be having a healthy baby as we didn't get any genetic testing done (figuring A. there was no history of anything in our families and B. even if our child had down's, etc, we wouldn't terminate).  I'm still not sure if not doing the genetic testing was a bad idea or not....I would have been consumed with worry and grief my whole pregnancy if I had, but at the same time it was horrible getting that news after 2 weeks thinking everything was just fine.

It took a day or so for my milk to come in and Charlie kept losing weight, which is totally normal so I didn't worry about it.  By day 2 he continued losing so they had me supplement with formula (which I was NOT happy about).  He also had a mild case of jaundice so they put him under the UV lights. On day 3, which is the day we were to be discharged, he had lost a full pound since birth so they kept him one extra day and we were able to leave on day 4.  We really weren't worried about his weight loss at all, it seemed totally normal and something that happens to everybody.

Charlie and Robb, you can see those skinny little chicken legs!

We went home and over the next two weeks we had a few more pediatrician appointments than normal to keep an eye on the weight gain.  He slowly started gaining weight so we were pleased and not at all worried, although he wasn't up to his birth weight yet.  One day Charlie pooped out a chunk of mucus which I thought was very odd but then figured it was nothing (newborns poop is all sorts of crazy right?).

He had a 2 week pediatrician appointment that went swimmingly, they said he was doing perfectly fine, everything looked good, weight gain wasn't a huge issue, etc.  That same night at 8:00 we got a call from our pediatrician.  I immediately knew something was wrong so I left Robb with Charlie and headed into my scrapbooking room for some privacy.  They told us the results of the PK screen had come back and Charlie had something called Cystic Fibrosis, two copies of the mutated F508 gene.  I didn't know much about Cystic Fibrosis at the first memory was an episode of 7th Heaven that featured a young girl with Cystic Fibrosis (who has since passed away) and I said "what does that mean? Isn't it fluid in the lungs?".  I didn't quite grasp the severity but I knew a genetic illness wasn't good.  The doctor explained it to me and I don't remember very much....I tried to take notes on an index card....I tried to keep it together and ask insightful questions.  They told me the CF Center at Hartford Children's Hospital had already been notified and we could call them the next day to set up an appointment.

After the phone call I went downstairs where Charlie was sleeping in his swing and told Robb.  I'm not going to get into too many details because it's personal but needless to say we were both very upset and heartbroken.  I felt like I had been hit by a train, and I felt stupid for taking for granted that Charlie was a "healthy baby" which I had never fully appreciated and always said rather flippantly.  Our pediatrician had told us not to go online to look up information because there is so much mis information, so we didn't, but while Robb and I were talking I remembered that I had learned about CF briefly from one of my graduate courses during a lecture on gene therapy.  I pulled out my old textbook and opened to the chapter on CF, the first sentence of the chapter was "CF is one of the most devastating illnesses...." and I immediately had to put the book down and stop reading.

We printed up 50 of these birth announcements before Robb realized that he had put the wrong birthday on it!  He was actually born 8/28 lol

SN: This is a photo taken the morning after Charlie's diagnosis.  I was incredibly sad and staring at Charlie with tears in my eyes and Robb snapped this photo.  You can't tell in the picture but I was a wreck at the time, however it's still a beautiful photograph so Robb used it for our birth announcements.  I actually don't like looking at this photo personally, and wasn't thrilled that it was the birth announcement either, because it just reminds me how devastated I was that day.

On Friday we made an appointment at the CF center for that Monday...the weekend was horrible, just waiting and not knowing what we were in store for.  We also had to call our family and give them the news (well Robb did, I couldn't hold it together to get the words out). The CF Center scheduled a 2 hour block of time for us and our family members to discuss what CF was, what it meant, what life would look like in the future, etc.  The meeting was hard but informative.  We were told that Charlie needed enzymes with all his meals (including breastmilk) from that moment forward.  We were told that kids with CF had a life expectancy of mid thirties.  We were told that boys born with CF had a 99% chance of being sterile (this fact hit me very hard for some reason).  We were told he would need breathing treatments at least twice a day for the rest of his life.  We were told that since Robb and I were both carriers any future children would have a 25% chance of having CF.  It was scary, but helpful because we didn't know much about CF prior to the meeting.
and so it begins...

After the meeting we brought Charlie to get a sweat test as confirmation of the CF, which it confirmed.  We started learning how to give him enzymes (they told us to mix it in applesauce but he was to young to spoon feed so I developed a method of dumping them into his mouth and immediately breastfeeding to wash them down.  It worked quite well for the months until he figured out spoon feeding) and how to perform manual chest physiotherapy.  The next few months were a blur of constant doctors appointments with a variety of specialists, learning about CF, and settling into a routine. And that's pretty much where we are now, 3 years later!  Sorry this was kind of a bummer post now that I'm reading it again, but hopefully it'll be helpful to someone out there.  If nothing else, I hope that at least those of you with healthy kids will appreciate that fact just a little bit more after reading this :)

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