Gene f508 and r117h ~7t

Tiffany Kruit

New member
Im hoping someone can help me understand all this, my sons mutations were found at his new born screening he had a sweat test as a newborn and everything was in normal range they repeated the sweat test at age 6 months his chloride levels went up a bit so we went for another test at age 1 then his chloride levels were up even more and he was diagnosed with cf he is now almost 4 and has had no real issues with cf he has check ups every 3 months but nothing has ever really changed i have two other kids and he doesn't seem to really get any sicker then them. Im frustrated because he is on a vest twice daily with albuterol in his neb plus pulmazyne in the evening. They just recently started him on klydeco also why does he really need all these treatments and meds if he has no symptoms he is at that age where everything is a power struggle and then we have to add all the treatments as a struggle also. I feel we are pumping him full of unnecessary medication when hes never really been sick. They always ask me hows his cough doing but he doesn't have one im confused. Anyone else been in similar situation maybe could give me advice or just maybe make me feel better about pumping my son full of these meds.
Thanks: )
 

Aboveallislove

Super Moderator
Hey Tiffany,
Welcome!
It must be hard when all seems normal, but that is also such a blessing. The thing with CF, is that the lungs are often starting to get damaged without you seeing it and that damage can be permanent, and thus the treatments when everything seems healthy. That is especially true re the R117H gene, when the younger kids don't really have much of an issue--but the treatments are still necessary. In fact, when Kalydeco was tested for R117H, it did not show a "benefit" for those under 18 (I think it was that...might have been those 6-11), because their lungs were so healthy...but the older ones with R117H had more damage to their lungs and thus it did show a benefit. Nonetheless, the FDA approved the drug for those with R117H even when younger, understanding that CF is a progressive disease. . . . you want to treat them there is no damage.

I know what you mean re "filling with drugs" though...but the thing is we know what CF does and is worse than what any medicines do.

One thought though: They are testing Kalydeco with another compound called 661 and is should work even better to fix the CFTR function for R117H and df508 and it would likely be approved in 2 years. If the results bear that out once it is approved, it might make sense to ask once your little one is on that combo, to have them do CT scans to see if any lung damage and if not to after about a month on that combo retest the sweat chloride level and if it is "normal" then it might be possible to cut back on other treatments. I know some on Kalydeco who have no damage and have now "normal" sweat levels have slowly cut back on the vest and other treatements with their doctor's approval.

Hang in there mom. Hugs and prayers,
Love
 

Tiffany Kruit

New member
Thanks for the reply that helps. His nutritionist also started him on ensure plus and pediasure during the day even though he's gaining weight his bmi isn't quite at 50% hes just tall and skinny like his dad and i don't think there's anything we can do about that, its frustrating because they keep telling me well he did gain a little bit of weight but then got taller again so she starts trying to think of ways we can boost his calories more but also pumps him full of sugar which i don't think is doing anything but giving him sugar highs. He just keeps getting taller :( she wants me to give him energy bars to boost his calories during the day but all granola bars and energy bars are out of the question because he has a peanut allergy and they are all processed with nuts but she seems to think i should try it anyway because the chances it actually contains a nut are slim which makes me soo mad because a peanut can be death for him. My daughter is a cf carrier and also very small for her age but tall and drs aren't concerned about her at all. Any suggestions?
 

Indianamom

New member
My daughter has these mutations also. She's 11. Wasn't discovered until she was about 9. They didn't have newborn screening when my children were born. She sees her doctor once a year, as long as she's doing fine. Fortunately, she doesn't have many symptoms and had a normal sweat test.
 

leecee

New member
Tiffany,

My 14 yo daughter has the same gene combination. We did not find out she had CF until she was 12. Now she has permanent lung damage also known as bronchiectasis (sp?). As described by her pulmonologist, she has the lungs of a 70 year old woman who has had asthma all her life. Also, she was growing 3 strains of Pseduomonas aeroginosa (sp?) which are bad bugs that live in the lungs of those with CF. We are assuming she is now colonized with them because they return every few months. She is pancreatic sufficient so she does not need enzymes. When she was born they did not screen her for CF and my husband and I were not aware that we were carriers. She always seemed to be "sick" with a runny nose and a cough but we are military and changed doctors quite often so they said she was just having allergies. She is also on Kalydeco and uses the vest and nebulizes, etc. It is necessary so that your sweet son keeps his precious little body healthy. I understand about wanting to not pump him full of drugs.
 
D

Deb

Guest
As everyone has stated above, it is important to start the meds before the damage is done. I was not diagnosed until I was 24 (even though I had pneumonia and a constant cough for years). Unfortunately doctors kept saying there was no way I had CF due to my age. Turns out the R117H can delay symptoms for years. But that doesn't mean that damage isn't being done. Even after I was diagnosed I remained fairly healthy for years yet I continued to do nebs and chest therapy (in the days before the vest) Despite being vigilant I developed some pretty serious infections in addition to pneumonia multiple times a year. Long story short, I am now 55 and I had to have my left lung removed at age 50 because it became so full of infection that it would not stay inflated. Since my right lung was relatively healthy they removed the left. I am actually doing MUCH better now but life with CF and one lung is nothing to sneeze at. It is imperative that I keep my right lung healthy. I was in the original study for Kalydeco and I also work out 5 days a week and this has improved my health tremendously.
I know it can be tough to get children to cooperate with treatments and meds but be persistent and consistent. His health and future depend on it. Good luck!!
 

Tiffany Kruit

New member
Thank you to all the replys i guess i should be greatfull they found the genes when they did hopefully with all the treatments and research and new drugs coming out he can stay symptom free for the most part. I really like this forum and being able to talk to other moms with c.f. thanks again: )
 

Aboveallislove

Super Moderator
Hey Tiffany,
I'm going to take a stab at the weight "issue." Here's what I would do (and DID do): For his next CF appointment, I'd dress the kid in a t-shirt, a long-sleeve shirt, a bulky sweater and a heavy pair of jeans. Let them weigh him and then congratulate you on the wonderful job you did getting him to gain weight. Smile politely, let them blab, and then go home and enjoy good well-balanced (both high and low fat) family meals!
You struck a nerve if you can't tell! The whole 50% thing is a "goal" and it is ridiculous that they think everyone with CF can possibly be at 50%...as you said, he's tall and skinny! Now of course, 10% isn't a great idea and if it were possible to get to 50% without ruining his (and the rest of the families') relationship with food, and if they were helping you do that, that'd be one thing. But they aren't. And the whole not likely peanuts thing shows that. I'm a big fan of the Ellyn Satter approach to eating and highly recommend you read her books (Child of Mine is a good start). It isn't geared toward CF, but it resonates and it does work!! I fell for all the pressure and started pressuring DS who started out very little (teens I think but all a blur), got up to 30ish but when they kept pushing for 50%, I kept pushing him and he stopped eating. I backed off and he started. He stayed around 30% for the longest time and I just smiled, nodded, hummed the Flinstones' theme song as they gave me worthless lectures on something I couldn't control, and when DS's stomach issues resolved (for the most part), he started eating more and then went over 100% for BMI and they wanted me to limit his calories!!!! He dropped to 90% BMI with just me tweaking food offerings.

I still "laugh" when I recall the "good job Mom!" response I got when he had gained like a pound or two between check ups and I looked at the lady and said "well, this was his first weight with clothing on." (they did naked weights until 1 and then with clothing and just clothing could add .5 pounds if not more). Anyway, so sorry you are dealing with this too and please PM me if you want to chat more.
PS That doesn't mean you can't try things they suggest to try to give him the possibility to consume more calories--we put butter and cheese on everything, but that's as much from me growing up in Wisconsin as anything else--but the key is that you offer him the opportunity along with other foods at meals and he decides how much and whether to eat it (Satter's book explain that all).
 

kchapman

New member
Hi Tiffany, I'm a 41-year-old with these exact mutations, and I only started to get a mild chronic cough about 4 years ago, when I first tested positive for MAC/MAI bacteria. When I first posted on this forum, after I was genetically diagnosed during pregnancy, I reported that I was largely asymptomatic during my lifetime, other than seasonal bronchitis as a child and one case of walking pneumonia, but completely healthy at the time. My CF doctor checked in on me annually, which was fine for a few years, but then discovered my illness at its very beginning. Most people with this mutation don't develop problems until later. My doctors want to start me on kalydeco soon, which I'm very interested in taking. I don't take albuterol unless I'm getting over a cold and feel wheezing (just a week at most), and I don't wear a vest. I'm not a doctor, but I am a mother, and I know how tedious it can be... If your child is on Kalydeco and isn't coughing or wheezing and doesn't have infected sputum, I personally don't see the need for albuterol or a vest. I would keep him on the Kalydeco, though! It will widen the sodium chloride channels so he doesn't develop problems beyond what a "normal" person would; it will keep him healthy from CF-related problems. Really ask a few doctors about the albuterol and a vest again; those might be unnecessary if your son is healthy on the Kalydeco. Just make sure he gets lots of exercise!
 

RWCO

New member
I know that it has been a long time since your post! Your son must be 8 years old now and I am wondering, if you see this or there are others out there with children with this mutation combination, how is your child now? I have an eleven year daughter with these exact mutations. In many respects, I feel like I am an expert on this type of CF after all we have been through. Like your son, my daughter had a positive newborn screen but was sweat tested twice (at birth and 6 months) in the normal range (about 20). At the time the doctors told us she did not have CF. That was 2005, then they called it "CF related metobolic syndrome." She was asymptomatic for many years. The doctors literally told us to "stop waiting for the other shoe to drop" because I would constantly ask them if there were any updates about this mutation combination that I didn't already know about. For 8 years I read everything that I could about CF and her mutations. I had just about decided nothing could possibly happen. Unfortunately, . . . at age 8.5 she developed a stomach ache one evening. She ended up in the ER and it was diagnosed as appendicitis. Lab results later showed nothing wrong with her appendix. Several severe bouts of abdominal pain and hospitalizations and 6 months later, she was finally diagnosed with recurrent pancreatitis caused by CF. The attacks came fast and furious thereafter. She lost a lot of weight, had to get a G/J tube for nutrition, was addicted to narcotic pain meds and could not attend school. Finally, I persuaded the doctors to transfer her to Amplatz (now Masonic) Children's hospital in Minneapolis where, a year after her first attack, she underwent a total pancreatectomy with auto islet transplant. It is two years later now. She is new kid. She has gained 50 pounds since the surgery and has no pain. She also has CF. She does nebs and the vest twice a day. She has no pulmonary symptoms but I know that we would be fools to think that she is in the clear and that the CF won't touch her lungs too. I don't want to panic you but, the fact is with this combination you cannot know what the future holds. My attitude is that if we are lucky and her lungs stay healthy there will come a day when she decides how much pulmonary hygiene to do daily. On our watch, we never miss because the stakes are too high. Good luck to you and your son. If there are others out there with this genotype I would be interested to hear from you too.
 
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