6 y/o son and lung surgery?

[Aboveallislove]

Re the zantac, etc.: Our son has been on Zantac since like 1 month old and is always on the max of Zantac and Prilosac: Two different mechanisms of handling excess acid. CF doctors regularly do this b/c it does act synergetically: The high acid prevents the enzymes from working properly so the Zantac will lower acid, which makes enzymes work times-better than alone. I'm with you on meds in general: But not with CF. We know what CF does alone. These meds are needed.
Hang in there,

 

[JENNYC]

Oops!! I completely goofed that up!! It was March 1, 2012!! I am still not use to being in 2013 LOL!!! So just one year but super excited about it!!!

 

[Aboveallislove]

Jenny,
I thought that was probably the case b/c you said typically 2x a year and that was my first reading that she is coming up on 1 year anniversary without any hospitalizations. (That's actually what caused the chill, not thinking it was 2 years, but 1 year, . . . which would be the FIRST!!!!) )))))

 

[lildenny]

Well I found out the second mutation 1154insTC it is an insertion and the D508 so a deletion and an insertion??? Does anyone know about this one? I agree Aboveall again after just speaking to his doc. she is really advocating for this surgery she really believes it will benefit him in the long run and she knows how pushed we are for time and then the insurance will change when my husband retires so we will be looking at a co-pay that wasn't there before. I asked about the drug they (the docs) have pushed the insurance and that has been an obstacle. IDK??? Really praying right now to do the right thing!

 

[JENNYC]

Just keep in mind that every insurance plan is different. For instance we have Humana but I know another that tried to get it off label and they had Humana as well. We (thank you Jesus) were approved and they were declined, so I caution you about doctors not trying because 1 insurance turned it down. So every plan no matter with the same company is different. All they have to do is write the prescription if you want to try it and it is up to your insurance company after that. Just so you know all the facts

1154insTC is a frameshift mutation. Frameshift mutations are ClassI mutations altering the production of the protein. These mutations result in the total or partial absence of the protein. This class includes the nonsense mutations and those that produce a premature stop codon (anomalies of splicing and frameshift mutations). In certain cases the mutated mRNA is unstable and doesn?produce the protein. In other cases, the abnormal protein produced will probably be unstable and degrade rapidly. This is what produces the truncated protein or the protein containing the aberrant sequence (anomalies of splicing or the frame shift). Functionally, these mutants are characterized by a loss of conductance of Cl- channel in the affected epithelia..........I stole this from CFHockeymom who had posted about it earlier On a side note Abby's second mutation is a Class 1 mutation as well.

 

[JENNYC]

Also if you want to see more people talking about this second mutation...lots of info comes up under google if you just type in 1154instc and you can see and maybe connect with some of the ones that have that same mutation.

 

[Aboveallislove]

A couple of thoughts:
1) I'd ask the doctors to write a script for Kalydeco and try to get it started, even if only for 30 days, but doing a SC first and after so you can show it is working.
2) If the doctor is talking benefit "long term", personally I wouldn't do it now. The need to fix something long term, might change very well in the short term. Obviously I can't make the decision and I would never interject if you hadn't asked for thoughts. I am so sorry you have such tough decisions to make.BUT I also think when you get info from other centers that will also be helpful and maybe make the decision easier.
3) Jenny: I was thinking wth did she just get her genetics decree, I follow this crap and don't know what she's saying!!! ;-) (btw omg is gosh and wth is heck! )

 

[JENNYC]

I hate to say it but I actually understand it Sandy was nice enough to brake it down in dummy terms for me, but yes at first I was the same way....and you just totally caught me off guard and had me rolling!!! I thought there is no way that she just said wth!!! That was a good laugh for the day!!!

 

[JENNYC]

This is Abby's mutation and the info that Sandy was sweet enough to explain. Hope it makes since and sheds some light on how it works. It helped me see

Yes, 2585delT is a frameshift. If it were a stop mutation it would have an x at the end (like W1282X does). It is confusing because the frameshift ends up creating a stop codon a little later, so the protein still ends up being truncated.

The first line below is a section of nucleotides from a normal CFTR.... the second is Abby's mutation. In Abby's mutation, the second 'T' is deleted, so it creates a frameshift. Every three nucleotides is code for an amino acid, so that is why I broke each section up in three letters, or nucleotides. 'TAA' is a stop codon that is created because of the frameshift. Ignoring the stop codon and continuing the frameshift still does not make any sense to our bodies.

TTG GAA ATA AGT GAA GAA ATT AAC GAA GAA GAC TTA AAG GAG TGC

TGG AAA TAA GTG AAG AAA TTA ACG AAG AAG ACT TAA AGG AGT GC........

 

[lifeisgood729]

When I was in my late teens, I colonized pseudomonas for the first time and had a few hospital stays. At the time, my Xrays showed that the infection was localized to my left middle lobe. My doctor wanted to remove the lobe, thinking it would get rid of the pseudomonas in my lungs. I sought a second opinion, and the second doc said it wasn't guaranteed to work, but it might help. I decided to go ahead with the surgery. I was really healthy at the time, so the recovery wasn't so bad for me.

Here are the outcomes I had: The pseudomonas was back in my cultures within a few months, so obviously it didn't eradicate it. But I also had many, many years of good health after surgery. I mean good as in years-long stretches between IV treatments until I was in my mid-30s. I'm 44 now and still hover around 55-60% FEV1. I don't really know if the surgery had anything to do with that or if I would have been just as healthy without it. (two of my brothers with CF are in their 50s, so we have "good genes.") Really no way to tell, I guess.

As a mom now, I don't know if I would make the same decision for my child. As others said, there are many more options now than there were when I was a teen. Definitely seek other opinions before agreeing to put your child through such a difficult surgery. Ask your doctor to point you to medical literature that shows that lobe removal is a good option or that there's evidence it improves health. Also, seek information about the new Vertex drugs. There are ways to get Kalydeco off label if you can find literature that says it's expected to work for your child's mutations.

Best of luck.
Martha
44 w/CF, mom to 3, no CF

 

[lildenny]

I spoke with a Dr. Brown at Vanderbilt and she was extremely helpful. She said there at Vandy they do a "case by case" in resections and then explained how they determine which patients would benefit from resections or lobectomies. Mind you that I prayed before I called and have been praying since (heck we haven't stopped) and BTW Aboveallislove big LOLL I wouldn't have judged anyway but actually knew what you meant (wtf= why that's fantastic!!!!) haahaa!! And JennyC TY for the genetics class wow! Dr. Brown actually described Ryan's case as she was describing their selection "process" of children that benefit from surgery. She was stating that bronchiectasis (sp) in any lung problem can contribute to further lung damage but in CF it can progress much worse (I am not wording it exactly like she did) The picture I get is that area basically becomes like an internal petre dish and when infected that infection spreads from that area and causes infection in healthy tissue and that can lead to more stasis and damage. His last CT in 2010 showed focal damage in the medial portion of the RUL and the CT from 2 weeks ago showed the same with involvement of the top portion of the lower lobe, which is right below and "underneath" the RUL. I hope I am wording this correctly. So was that second mutation common? I am amazed at the information that you know about this JennyC and very thankful for it!!! I hate the thought of him having surgery but I also hate seeing him getting winded and short of breath doing little things that didn't bother him before a few months ago. Our family has been through so much in the past 4 months and his Dr. knows what all we have been through and I just don't know... I couldn't believe that she would suggest the surgery and advocate for it if she didn't believe that it would really help him. I'm just trying to weigh what I know about everything at this point. I am not a pro-surgery person period! at the same time I'm thinking if this small portion stays dilated and plugged and essentially the rest of his lung looks in really good shape, and that's the part that gets infected since he was diagnosed at 2 and 1/2 what is the downside except for all the complications that can come from surgery!?? Ahhhh I mean at this point it is a choice vs. being left with no choice.... I am talking out loud and to myself here. You guys are awesome and just know that today! Bless you for all the help and encouragement

 

[JENNYC]

lildenny....I have learned all I know from these wonderful ladies on here who helped me through my crisis And no matter what your decision we will back you 100% so please keep us updated. And I'm just so very thankful that it is not me making that decision because I would be a basket case LOL!! I have to ask did they say anything about the Kalydeco? And there are only 12 people in the CF database including Abby with her particular second mutation (but there are many more class1 mutations such as yours). Makes me wonder if they are all related to my husband I wish you all the best and will keep your precious family in my prayers!!

 

[Aboveallislove]

That added info seems very reassuring for what you were told in Hawaii. Very tough decision, but must give you confortable to know it is something others too agree on. Ditto on what Jenny said. Will pray as you figure this all out.

 

[Printer]

Yes!! Get a SECOND OPINION from a APPROVED CF CENTER by a CF SPECIALIST.

Bill

 

[TreasureGoddess]

lildenny, just thinking of you and hoping things are going well. Best wishes with whichever path you choose. Moms always seem to know what's right when they trust their gut.