Mutations

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.

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.

Well, We Got an Answer

But not one I was hoping for.

We got the results of Judith's genetic screen, and they couldn't find the second mutation.  Yep, you read that right - no second mutation turned up.  Apparently, this can happen in about 3-5% of CF cases, so while not common, it's also not unheard of.  Go figure she would fall in that 3-5% - this little peanut certainly likes to do things differently.

We do know that DF508 is present; that was already semi-confirmed with the newborn screen, and was definitely confirmed through this test.  So I'm figuring that my mutation either A.) just didn't show up or B.) is a mutation that isn't recognized yet.  Her pulmonologist didn't come out and "label" her case as DF508 dominant, but I believe we're going to treat it like that is the presenting mutation.  I was really hoping that we could find out what the exact mutation is so we would have a ballpark idea about how mild or severe the disease could be, but we'll never know based off of these results.

I am disappointed and bummed that we don't have more concrete answers (if anything medical can ever be concrete), but I'll learn to live with this just like I've learned to live with everything else that's been thrown my way in the last almost-6 1/2 months.

The good news?  Judith will not need another sweat test.  Ever!  Her numbers were much more conclusive today - they weren't super high, but they're high enough in the range for a positive diagnosis that we can confirm everything.  Last time, her numbers came back at 61 & 62; today, her numbers were 64 & 65.  She'll be receiving another chest x-ray after her next visit to see how things look.  We also have the pleasure of collecting another poop sample to check her pancreatic functions.  It was such a blast last time that I'm so looking forward to scraping her poo into a tiny plastic cup using a wooden tongue depressor and having the cup sitting in the door of the freezer until I can get it to the lab.  *note: insert sarcasm font into previous sentence*  Fun times.

Can We Get Some Answers?

I want the answer to this question to be yes.  We have our next appointment at Hershey on Tuesday.  Judith will need a repeat sweat test (oh goody - I feel so bad that she has to go through this a 3rd time), and then another follow-up with her pulmonologist.  I'm hoping that they have the results of her genetic screening back, and we can find out what her exact CF mutation is.  We should also be able to get some clues as to what mutation I'm carrying.

We already know Judith carries DF508 (delta f 508), the most common CF mutation out there.  This is what the newborn screen detected, and I'm pretty sure this is the mutation John carries (well, we know I don't carry it, so it had to come from somewhere).  I don't think there's a way to predict how the disease will impact any one person, but we may be able to get an idea on how severe her case may be based off the mutation she carries...at least this is what I'm hoping for.

I'm getting better dealing with unknowns, and that's one advantage that came out of dealing with a preemie in the NICU for 9 weeks.  But the unknowns still drive me nuts.  I hate not knowing what's going on, and I get frustrated when I can't find answers to my questions through the things I research.  I'll be blunt and say that I avoid Dr. Google like the plague after learning my lesson when Judith had her NEC scare early on in her NICU stay, but I have this urge to read more about CF and it's hard to find reputable sites that aren't going to scare the living s*** out of me.  I guess it's time to start looking for more books to read, since I've pretty much exhausted the one we got from the CF clinic.