Friday, January 23, 2015

Our 2015 Video Is Here!

Check it out!  I have it embedded in our side bar as well, so if you want to watch it later or show it to someone later, you don't have to search for this specific post.

Appointment Week

We didn't have appointments every day this week, but we did have 2 scheduled, and on top of everything else right now, it led to kind of a chaotic week.

The big appointment was the quarterly clinic visit, which overall went really well.  Judith did lose another few ounces, and is down over half a pound at this point, so while they're concerned, it's not at an immediate action point.  She was 31 lbs 7 oz, and her new BMI is 17%.  Since she's been sick, that could be contributing to her loss of appetite, and we're waiting to see if she can regain the lost weight once she's feeling better.  Because her cough is starting to come back, and because she's still pretty congested, she's on another round of antibiotics to see if we can fight off whatever else might be brewing.  We're trying something different, and avoiding the bactrim for now, so she's taking azithromycin for 10 days.

We're going to have to go for a sleep study at some point, because Judith's snoring at night is getting worse.  Granted part of it is due to the congestion, but even when she's not congested, she'll snore.  Dr. G. wants to rule out obstructive sleep apnea, which is apparently very common in young kids, and often gets worse/peaks around Judith's age.  Depending on what the results of the study are, she might need to have her tonsils and adenoids removed.

The other appointment was this morning, and that was a repeat hearing test ordered by her PCP.  Judith didn't quite understand what to do with the test they run in the office, and she wasn't fully cooperating, so they wanted to double check and make sure she's hearing the tones she should be hearing.  Part of the concern also stems from all of the antibiotics she was on while in the NICU to fight off the various infections, because some of them are known to cause hearing loss in preemies and term newborns.  She passed her previous tests, but we wanted to make sure that we didn't miss anything or something started to manifest after her previous test before she turned 1.

She was actually really cooperative today, and the audiologist said that things looked pretty good!  The activities they did with her to get her to respond to the sounds she was hearing were much better than the typical "raise your hand when you hear the sound in your ear" that her pediatrician used (or in other words, how many of us did it during our hearing tests in school).  I was pleasantly surprised at how long she was able to focus!  I'm waiting for a call from her PCP at some point to go over the results more extensively, but we know she's hearing the majority of stuff, and when she ignores us it's more of a selective deal.

Monday, January 12, 2015

Big News From Vertex

Today's press release from Vertex is causing quite a buzz in the CF community, and that's because there is an anticipated review for acceptance date with the FDA for VX-809 (lumacaftor)!  July 5, 2015 is going to be a big day for approximately half of the CF population who carry 2 copies of the F508del mutation!

This is why we, as CF families, work hard to raise money for research, and to help scientists work on finding a cure.  These drugs are NOT a cure, and people taking them still have CF, but they're game changing drugs, and will allow CF patients' cells to have some CFTR function, therefore minimizing/slowing down the progress of damage from the disease.

You can read the full press release here.

I have to say that while this is exciting, I can't help but feel bittersweet about it.  Some of my friends' children will benefit from this, either now or soon once the studies are completed in the 2-6 age bracket, and I'm happy for them that their moment is coming.  But it's a major let down to know that we're still in a holding pattern, waiting to see what the studies show for people like Judith who carry 1 copy of F508del.  VX-661 still seems to have better results for these patients, but it still has a way to go in the study process before approval can even be considered.

I know that Judith, and others like her, will have their moment eventually.  The waiting is the worst part.  But in the meantime, we're going to take a moment to celebrate with the entire community, and rejoice that half of the population will very soon have access to these drugs!

Thursday, January 1, 2015

Happy New Year!

From our family to yours, we want to wish all of you a safe, happy, and healthy 2015!

Reflecting back on the last year, we've definitely had some ups and downs.  The biggest kicks in the pants were Judith needing the second clean out in July, and the situation with the former buyer for our house.  Feeling like we've been living in a museum and not getting a lot of results with our house for months was frustrating, and frankly still is frustrating, but with the new year upon us we're hoping that things will move quickly and we can get this house sold.  There were so many positives as well, though: being able to go to parent support group meetings for our clinic and chatting with the other parents there; the Great Strides walk last May; Judith getting a vest machine that is working much better for her; and seeing her make some great gains with weight back in October.

2015 holds a lot of hope and anticipation for us.  Obviously selling our house is a big one.  The CF community is anticipating the approval of VX-809 for people with 2 copies of DF508, and the studies continue to progress with VX-661.  The big renovations at our church are expected to start soon, and while it's going to mean a lot of dust for a while, the changes and updates are really exciting!  And next fall, Judith will hopefully go to preschool so she can get a better handle on the social skills she'll need for kindergarten.

The odds of us being busier than normal this year are good, but that's ok.  If this year can be better than last year, I'll call it a win.