Monday, January 28, 2013


Last week I mentioned that Judith's CF team knows what all of her mutations are, and we now have that information as well.  Naturally Judith has to go against the grain, so to speak, and have a mutation that doesn't have a lot of information attached to it.  Frustrating for sure, but we at least have some answers and can kind of get an idea of what to expect with her future.

As you already know, the mutation that we knew about from the beginning is DF508.  It's the most common mutation, and about 90% of the CF population has at least 1 copy of it.  It causes pancreatic insufficiency when paired with another mutation that also causes pancreatic insufficiency.  This was the mutation that the state mandated newborn screen detected when Judith had her blood drawn and sent to the lab while in the NICU, and it's the mutation that we knew about before we even got pregnant as it was discovered in our lab work when we met with the reproductive endocrinologist while undergoing infertility testing.

Anyway, after running her genetic screening after her sweat test confirmed she has the disease, they discovered that she is carrying 2 more mutations: M470V and Q1463.  M470V actually does not cause CF when paired with another mutation that causes CF, so while it shows up on the test it's not really doing anything.  It's kind of just... there.  The mutation that's causing disease is Q1463.  Dr. G. admits that he doesn't know a lot about that particular mutation because it's so rare.  How rare is it?  It's so rare that it's not found in the CFTR2, and I can only find information for 1 other person listed in the Toronto  children's hospital CFTR database.  It looks like Judith is presenting with mild disease, and it sounds like there's a good chance that she should remain pancreatic sufficient since they believe the Q1463 mutation doesn't cause insufficiency.

It's driving me a little batty that I'm not finding more information on this mutation, because I would really like to do more research and try to understand it better.  Knowing both mutations is not completely moot, but right now I'm in the mindset that we're doing what we can to treat her disease based off how she's presenting and doing.

Tuesday, January 22, 2013

Reculture and Ultrasound

We had a pretty busy day of appointments.  Judith had her liver ultrasound, and also had her reculture/check up appointment with Dr. G. immediately after.  We got some good news, a little bit of bad news, and some things that we need to work on.  I apologize in advance because this post will probably be unusually long.

Of all days to have these appointments and to have to go into the hospital, it had to be one of the coldest days of the season and smack in the middle of one of the worst flu seasons in years!  I swear we have some of the worst luck, and just once I would like a nice, decent day for an appointment: not on the hottest/coldest day of the year, no rain, no hurricane causing us to cancel, etc.  Maybe one of these days we'll get lucky!

I was somewhat excited when I got the confirmation call for Judith's radiology appointment last week, and found out we would actually be in the new children's hospital instead of the main building.  What we saw of the interior is really, really awesome!  It was a little confusing finding our way around at first since I'm more accustomed to seeing lots of construction, but the staff was very helpful and we easily got to where we needed to be.

Judith had her liver ultrasound first.  She was side-eyeing a lot of the staff, and as soon as I laid her down on the bed for the scan she started crying.  I kept telling her that it wouldn't hurt, and they were going to take pictures of her belly (I even tried to get her to say "cheese"), but she didn't want to hear it.  The tech was great, and assured me that they're used to this happening, so I didn't feel quite as bad.  We did, however, have to restrain her, and I held her arms while another aide/tech came in and held her legs down.  It was a quick scan; I'd say it took maybe 10 minutes, and we had about 10 more minutes in between things while the tech talked to one of the radiology doctors about the pictures (and, in the beginning, while she looked for someone to help restrain Judith so they could do the scan).  She did cooperate for about half of it, and the tech gave her 2 Mickey Mouse Clubhouse stickers once we were done.

After her scan, we headed over to the CF clinic.  We ended up being about a half hour early for our appointment, but it was nice because we were Dr. G.'s first appointment of the day.  Judith was really, really well behaved!  That's the 3rd appointment in a row that she hasn't pitched a fit while being examined, and I think it's a combination of her remembering and being comfortable with them.  She was impressing them with what she was doing (checking out the cabinets under the exam table, and being cautious while backing out so she didn't whack her head), and also with how well she was behaving.  At one point, Dr. G. asked her if he could take a look at her and listen to her lungs, and she kind of batted at him and said, "No."  Hey, at least she was being honest!

Our appointment was a little longer than I expected, but we had a lot of things to go over.  Dr. G. took another culture of her sputum, and we'll find out the results next week.  I was honest with him, and said that I would be floored if it comes back clean, at least with the MRSA.  I explained that getting her to take the bactrum was an absolute nightmare, and he said that we could actually try tablets next time, and I can grind them up and put them in applesauce or something else to mask it and hopefully get the dose into her.  He said it's tricky sometimes because some parents really want the liquids, but I said it didn't matter to me and I'm willing to try any method to get her to take her meds.  He made a note in her chart, so we'll give the tablets a shot next time!  Judith's also going to be getting a prescription nasal spray to help with some of the secretions.  Her lungs sounded clear (which is awesome!), so they think the cough she's been developing may be from drainage, and they want to try drying her up a bit to see if it improves things.

We got some mixed results with her ultrasound.  The good news is her liver looks fine, and the elevated enzymes are more than likely from random viruses, which can cause those elevations.  Dr. G. said that they see this from time to time, and they always want to check the liver just to make sure everything is normal.  Judith's biliruben levels are well within the normal range, so what we thought was jaundice is more likely her normal pigment coming out.  The bad news: she has a small kidney stone, which is not CF related, but most likely a residual preemie complication.  While in the NICU, Judith was on lasiks a few times, which puts her at higher risk for kidney stones.  So Dr. G. is referring us to a renal specialist for a consult, and we'll hopefully get more information at our first appointment.  Her kidney is functioning normally, so that's a plus.  We just get to play the waiting game for the stone to pass, and I feel horrible for Judith that it's going to happen eventually.

Judith will be getting a nutrition overhaul.  She is so picky, and we need to restrategize to get her to eat some higher calorie foods to help get her to the optimum percentile (50th).  This could be interesting, especially with a picky toddler!

The last thing we discovered is that they know what Judith's other mutations are.  You read that right: they detected 2 other mutations in the genetic panel.  We hadn't discussed her genetics in a while, and I never thought to ask, so I was surprised when our nutritionist mentioned the other mutations.  I feel pretty relieved now that we know what I'm carrying, and we can use that information to move forward with her care.  I want to do a little reading on the new mutations, and then I will write a separate post explaining it.

So overall we had a pretty good day and got some great news!  We'll see what the culture results yield, and then go from there.

Saturday, January 12, 2013

January Thaw

We've had quite the warm streak the past few days, and if the predictions hold true tomorrow will be the warmest yet.  I'm pleasantly surprised that we didn't get blasted with a.) a massive nor'easter/blizzard or b.) insanely heavy rain that would cause flooding this past week since it was Farm Show week, and many years in the past we've been hit with big storms.  Hooray for uneventful weather!  The downside is all of our snow is basically gone.  Not that there was a ton left to begin with - mainly the gross, dirty piles caused by the plows and whatnot.  Many would disagree with me, but I hope we get a fresh coating so we can go out and play in it.  As long as it's not on the day we have our appointments, I'm cool with it.

Judith started out the week with some disappointment since we took all of our Christmas decorations down last weekend.  We traditionally leave everything up until Epiphany (sometimes until the weekend after depending when the 6th falls), and since it was actually on a Sunday this year it kind of worked out nicely.  Judith got used to seeing the tree in the living room whenever she came downstairs, and when it wasn't there anymore she was trying to figure out what happened to it.  Even though we didn't do a ton of decorating this year, it was still neat to see her reactions to everything and explore the ornaments and lights.  I was proud, too, because she generally left the tree alone and didn't try to undecorate it too often!

I had a subbing day this past Thursday, so Judith got to spend some time with her Pawpaw.  They had a blast together (like always!), and it was a good change of pace for both of us (even though I was essentially walking into a petri dish at the school because the illnesses are hitting hard).  I was kind of glad for the diversions since it took my mind off of everything else that's going on with her.

The worst part of the week has been the news reports of the flu epidemic.  I'm germophobic to begin with, and this has set my anxiety over the edge.  I've been keeping Judith at home as much as possible, and trying to avoid crowds.  I know eventually we won't be able to avoid this stuff, and won't have the luxury of staying home all the time (like when she's in school), but right now it's very much a personal situation for me of "old habits are hard to break."  I think if the strain going around wasn't so virulent and if the vaccine was offering greater protection I'd feel a little differently.  I'm even nervous to take her to her appointments, especially since we have to go into the main hospital for the ultrasound.  I highly doubt Judith'll keep a mask on, but I'm really going to try to get her to wear it for her own sake.

Tuesday, January 8, 2013

We Have An Appointment

I feel relief that we have an appointment set up for Judith's abdominal ultrasound and her reculture.  I'm hoping that we'll be able to get some answers about what's going on with her liver (if anything), and can work to try to get rid of the MRSA infection in her lungs.

Something different and not CF related

I have a good friend who is doing something amazing: she is going to run in 26 races over the course of the year in memory of the 26 victims of the tragedy at Sandy Hook Elementary in Newtown, CT.  If you can, please consider offering your support and donating to her cause!  You can read more about her at

Friday, January 4, 2013

Meds are DONE

The last dose of bactrum was given this evening, so now we wait to see what the reculture yields.  I'm not super optimistic about this one because of the battles over the last 2 weeks, so we'll see what our next steps will be.

In the meantime, we've been having some fun around the house, and Judith's been parroting everything we say (literally - this was quite obvious on New Year's day when she echoed "Oh shit!" seconds after my mom said it).  She is absolutely obsessed with the dogs, and is constantly laying her head on them to give them hugs and asking for "tisses" (kisses).  Lady has been getting a few extra workouts since Judith started chasing her, and especially loves when Judith leaves smaller toys laying around so she can steal them, bringing them to me to throw, and instead having them confiscated so they don't get littered with teeth marks.

I also started thinking about some "upgrades" we could make in the living room, mainly in terms of toy storage, and to give Judith an area to do activities.  Once the tree is down, I want to get a storage system to put her toys in so we can be a little more organized, and also so I can weed through stuff that she doesn't play with anymore or is too young for her.  There's a very nice storage system at Ikea that I want to get, and this will give me an excuse to finally make a trip to that store so I can say that I've been to one!  The other thing that's catching my eye is a toddler table and chair set.  There are 2 options that I like, and both would make a nice addition to our main room (in place of the Pack-n-Play).  It's giving me something positive to look forward to, and I can't wait to hopefully set this in motion soon.

Wednesday, January 2, 2013


What better way to start the new year than an impending throat culture?  Sarcasm aside, I know that we're going to be taking Judith in for her reculture sometime very soon.  I called our nurse coordinator today to get a better handle on what's going on with the liver function tests, to see when we need to do the culture, and what we should do about the antibiotics.  We still don't know a lot, but I feel better after this phone call than I did a couple weeks ago when we got her lab results back.

Judith's pulmonologist has a packed schedule, but they're going to try to squeeze her in.  I said that we were having a hell of a time trying to get the bactrum into her (so far she's probably taken a few full doses, but most of it is spit out, much to my chagrin), and that we've exhausted practically every technique we could think of: trying to mask it in pediasure/other beverages, masking in various types of food, pinching her nose, wrapping her in a towel to help hold her arms down (also serves as a great medicine catcher) - you name it, we've tried it.  Each time she's prescribed bactrum it gets progressively worse.  Whether it's the artificial grape flavor, the actual medicine (which smells like crap, so I can only imagine how it tastes), or a combination of the 2 remains to be determined, but at this point it doesn't make much of a difference because she flat out refuses to swallow it.  I'm sure Judith's not the first toddler to completely battle a medication, and I do think we've been relatively lucky with her compliance with meds and treatments, so I guess a battle with some things is inevitable.  Anyway, Dr. G. said that he would prefer to see her and listen to her lungs when we do the reculture to check things out.  I know this is going to make it trickier to schedule, since a reculture would be a quick nurse visit, but they'll work it out and will call us with a time.

One of the bigger reliefs for me is they want to do the liver ultrasound at the same time.  They know that we took Judith to the urgent care facility because she was looking jaundiced, and even though we said she doesn't look nearly as bad as she did a few Saturdays ago, they would rather do it now instead of waiting, just in case.  So instead of waiting a few months for her next regular visit to get some answers, we'll hopefully be able to get a better idea of what her body's doing in a few weeks.