Aug 14 – Sept 11, 2017 |3 Month Check Up

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Lewes, DE (Aug 17-19)

Went down to Lewes for a few days to hang out with my cousins. Had a great time as always. The weather was warm, but overall it was nice. I also outlasted mafia boss by showing her I don’t give in. She demanded I apologize after throwing some tiny rocks at her and she elected to hold/hug me and carry me back to her house from town unless I apologized. Well I played her like a fiddle…not only did I not have to apologize, I didn’t have to walk home. 😛

National Zoo (Aug 28)

Mom and Dad took me to the zoo one morning, before it got too busy. We got there nice and early and saw all sorts of animals. It got warm as the day wore on but overall it was a nice day at the zoo. Mom and Dad carried me around a good amount of the time.

Miscellaneous Fun & Other Milestones Activities

I’ve officially peed in the potty one time to date. Mom and Dad were hoping I would pick this up, but it just hasn’t been a priority of mine. To demonstrate how much I care about using the potty, I

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Texts from Mom to Dad (see dad’s clever pun)

Also got this gnarly shiner one evening hanging out in the living room. Perhaps I should listen to Dad and stop jumping on all the furniture. This thing lingered for at least 3 weeks and there’s still a little indention in my cheek from this thing.

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And for the most part, it’s been business as usual. I hang out with Pop a lot. I work on my tractor. Dad took me to an outdoor movie theater for all of five minutes. Mom and Dad also took me back to Claude Moore Farms in McLean for a quick visit.

Also, I enjoy sleeping in with Mom sometimes, building and painting things and going for  walks in the woods. I also got a new bedroom set and had cousin Hayden over for a sleepover. My new bed has a trundle so friends and family are always welcome and don’t have to share the bed or sleep on the floor anymore.

3 Month Pulmonary Checkup (Sept 11/19) & New Medication 😦

On Sept 11, Mom and Dad took me in for my quarterly checkup. Oh wait, it was rescheduled to Sept 19 and Mom and Dad could not get someone on the phone to let us know when calling to check ahead so they both took off work for nothing.

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Honestly…which way do I go?

After my last Children’s visit (the nasty one I had for staph infection), a weird, very confusing, and inconvenient situation has arose with respect to my health care. Pediatric Specialists of Virginia (PSV) was thrown into the mix. PSV was created in 2003 as part of a collaborative effort between Children’s National Health System  and Invoa Health System, but for some reason something new has taken place which involves me going to both locations and visiting doctors who may/may not have access to my medical records. This makes for longer hospital visits which is not good for me (added exposure of germs, confusion around medical details, etc.) or my parents (trying to schedule work).

Probably worst than juggling through all the scheduling woes was the fact that I have to begin taking a new daily medication – Pulmozyme. The medication must be refrigerated (pain in the ass) and is to be administered through my nebulizer so it’s another breathing treatment to my regiment so add another 20 minutes to life’s breathing treatments. Therefore me, Mom, and Dad have to clean more nebulizer parts and manage yet another prescription. If you’re a glass, half-full type of person, the idea behind this drug is that it is designed to thin the mucus in my lungs so that they are not as sticky and I’m less prone to picking up staph infection/respiratory tract infections. Let’s hope it works!

Naturally like all new medications, this was rejected by insurance, so my doctors have to send information justifying my need for it. It’s been over a week now and I still don’t have my medicine because of the awful medical/insurance industries.

CF Cycle for Life – Oct 8, 2017

Dad’s training is going really well. He biked a total of 16 miles since signing up for this event and has ran a total of 0 miles, played 0 basketball games, and done zero activities/events of cardiovascular health so he should be in pretty top notch shape come the event.

Click here if you want to learn more about the ride or here if you would like to join his team or donate.

Please Get Your Flu Shots

Please go out and get your flu shots. I got mine. It didn’t even hurt. The nurse was so impressed that I didn’t even flinch. Said she’s never seen a 2 year old act so tough.

Outer Banks – Sep 30 – Oct 5, 2017

I’m off to the Outer Banks this weekend with Mom and Dad for our first, real vacation since before I’ve been born. I’m really hoping for some good weather and fishing while down there.

Nationals

Dad and I are going to be out of town for the NLDS (at least first two games) so please make quick work of the Cubs so that I can catch a game of the NLCS and hopefully World Series.

Speaking of baseball, Dad and I have been playing quite a bit of tee-ball in the back yard. I’m getting pretty good at wacking the ball. Dad said he was most proud when he could overhear me telling my cousin how to place hands on the bat – left hand on bottom and right hand on top.  I’ll try to throw a video or two up here within the next few days.

Stay safe hurricane victims.

Aug 14 – Sept 11, 2017 |3 Month Check Up

My Full Panel Genetic Test Results are In – G542X, R1070Q in cis S466X

The Results are In
The Results are In

So the genetic testing wait is over. On Saturday night at 12:04 AM, Dr. Shukla sent the the following email to Mom and Dad:

I finally got Jack’s genetic testing results this evening! When they looked at the genes they actually found 3 abnormal sections which can contribute to CF. This means that most likely one gene has two mutations and the other gene has one. We can go over this in more detail at Jack’s next visit, but I will try and explain what we know below.

  • Mutation 1: G542X – This is the mutation we knew about already. This is what we call a “nonsense mutation” as it doesn’t make a protein we want.
  • Mutation 2: S466X – This is also a “nonsense mutation”
  • Mutation 3: R1070Q – This is a “missense mutation” meaning that it changes the amino acid which is produced at that one spot.

When we look at different mutations, we see that Mutations 2 and 3 have been seen together in patients that have CF. Mutation 2 is known to cause CF. Mutation 3 is of “unknown significance” which means that we don’t know much about it except that we have seen it in CF patients.

So what does all of this mean? It means we keep doing the exact same thing that we are doing now. This will help if at any point any medications become available particularly targeting any of these mutations. Aside from that, we continue the same treatment plan and keep up all the hard work you guys have been doing.

Naturally, when you receive an email like that, you immediately pull up Google while lying in bed and try to learn everything you can since we aren’t scheduled to meet back with my team of doctors at Children’s until July 1st.

At first glance, Mom got really upset when reading the following journal article from the National Institute of Health (NIH) when searching on the CFTR mutations that have been passed along to me as there was a lot of reference to “severe”.

We also learned that 22 patients are in the Johns Hopkins CFTR2 database with the S466X (21 have the R1070Q) mutation(s) compared to the 1,803 patients with the G542X mutation passed along by Mom, which is also the second most common variant – second to the F508del.

The S466X mutation is most common amongst the Middle Eastern area such as Turkey, Greece, Iran and India (Sermet-Gaudelus et al, 2005) so going need to get TMZ on that genealogy to see where the hell Dad is from.

We now know that I have two Class I mutations which are considered the most severe. The scale for mutations is I through VI (1 through 6). Click here for a link to a rather simple, yet good explanation of CFTR mutation classes and their severity.

As my parents, my doctors, and I have said before, nothing changes from before. We will continue with my treatments and if new, ground breaking drugs which improve or hopefully cure the Class I mutations are developed, we’ll know.

For now, it’s back to Game 2 of the NBA Finals.

Watching the NBA Finals while Imitating Dad
Watching the NBA Finals while Imitating Dad

Have a good night everyone!

My Full Panel Genetic Test Results are In – G542X, R1070Q in cis S466X