Hi, I am new to this forum and was looking for anyone familiar with two copies of R117H / 7t variable. I know it is very very rare and we were just recently told by my daughters CF dr that she is 1 of 3 people in the US with this combination. I have never really got any direct answers regarding how to treat my daughter pretty much because they just aren't sure. We simply go by how she is feeling or if she gets sick. At one visit we are told to do the vest everyday and the next they aren't sure. Her lung function is good and pretty much always has been but shouldnt we still be doing the vest treatments to keep it that way. I am looking for any guidance on this topic and please bare with me I have done most research on my own. Thank you any advice is appreciated!
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Mom of daughter w/ 2 copies of R117H
- Thread starter Hennab02
- Start date
I'm not a doctor but I have two boys (4 & 7) with double d508. The breathing treatments and vest therapy they use day to day are preventative but also used as treatment when they have an infection along with IV antibiotics. The reason we do treatments everyday (3x a day healthy, 4x to 6x a day sick) is because it's the only way to clear mucus from airways. the build up of mucus traps germs and bacteria and gives them perfect conditions to grow. Also if the airways fill will mucus they loose volume and so they move less air (monitored with pfts). Over time the lungs "scar" and become weak and clogged from repeated sickness (lung disease) and have to be replaced.
So we do inhaled solutions to open airways, and thin mucus, induce cough, and treat common germs or bacteria and the vest to help create force to move the thick mucus. Periodically they have a lung performance test (pft) it gives an idea of the level of lung disease so doctors can assess when a transplant or other more intense treatment may be needed. So long story short doing treatments can't hurt. I don't know how severe your daughters is but it can only help to stay active and maintain a constant treatment regiment. If your strain is less severe you may be good with just one treatment a day.
Hang in there, this can be pretty tough sometimes. " you don't know how strong you are until being strong is all you can do "
So we do inhaled solutions to open airways, and thin mucus, induce cough, and treat common germs or bacteria and the vest to help create force to move the thick mucus. Periodically they have a lung performance test (pft) it gives an idea of the level of lung disease so doctors can assess when a transplant or other more intense treatment may be needed. So long story short doing treatments can't hurt. I don't know how severe your daughters is but it can only help to stay active and maintain a constant treatment regiment. If your strain is less severe you may be good with just one treatment a day.
Hang in there, this can be pretty tough sometimes. " you don't know how strong you are until being strong is all you can do "
D
dyzaman
Guest
Hi there, I have 2 copies of the RH117/7t just like your daughter. Your right in that it is rarely known about, but I honestly believe that it will become more apparent as more newborn screening becomes the norm throughout the world. That was how i was found, my son has CF, he has the d508 along with my RH117. If I can recall at the time the doctors here in Scotland found only 4 with the double RH117, one in edinburgh from a fertility centre, i guess he was having trouble concieving, two more newborns in wisconsin and me. I had no troble concieving, father of two. For a while maybe 3 years I attended the CF clinic in Glasgow, this was mainly out of the doctors curiosity to this, and as he said, you never know how this will pan out, after 3 years there was no sign of cf symtoms that were ongoing, maybe it answered some questionable happenings when I was a child, had my sinuses cleared out when 8, and had a stay in hospitle when 5 with severe stomache pain, they never found out what caused this.
I am now 48, overweight, smoked for 27 years, drunk heavily for most of my teenage and twenties years, typical Scotsman you might say.
It does to be honest frightens me sometimes, sometimes when I get cold and it does seem to set in worse for me and lasts longer, I think to myself is this it, is this the CF kicking in. Its good that they are seeing your D, and that there are prepared to give her treatments. One last thing that springs to my mind, is that here in Europe, I think it was France amongst other countries, there was talk of removing the RH117 from the official list of CF genes, wether that happened or not im not sure of. We treat our son pretty much that he has CF, they have said that he has a 'mild case', and I do hate to use that term, but his treatments have increased, he recentlty started pulmozyme and he looks to be responding to it, Fev over 100 and increasing, he has his pancreas working, maybe not 100%, but way much more than having to take enzymes, I take it your daughter's pancreas works, that is the main 'benefit' of the RH117, it seems to overide and has the pancreas working.
Anyway, I not on here that much now, much to the annoiance of some of the members here, but if you want to ask me anymore just pm me or open forum it. Last thing if you look at my old blog under the name of 'dyza' you will find lots of pages and info about myself and my doctor visits and my insight to the Rh117.
craig
I am now 48, overweight, smoked for 27 years, drunk heavily for most of my teenage and twenties years, typical Scotsman you might say.
It does to be honest frightens me sometimes, sometimes when I get cold and it does seem to set in worse for me and lasts longer, I think to myself is this it, is this the CF kicking in. Its good that they are seeing your D, and that there are prepared to give her treatments. One last thing that springs to my mind, is that here in Europe, I think it was France amongst other countries, there was talk of removing the RH117 from the official list of CF genes, wether that happened or not im not sure of. We treat our son pretty much that he has CF, they have said that he has a 'mild case', and I do hate to use that term, but his treatments have increased, he recentlty started pulmozyme and he looks to be responding to it, Fev over 100 and increasing, he has his pancreas working, maybe not 100%, but way much more than having to take enzymes, I take it your daughter's pancreas works, that is the main 'benefit' of the RH117, it seems to overide and has the pancreas working.
Anyway, I not on here that much now, much to the annoiance of some of the members here, but if you want to ask me anymore just pm me or open forum it. Last thing if you look at my old blog under the name of 'dyza' you will find lots of pages and info about myself and my doctor visits and my insight to the Rh117.
craig
Hi here another mom with a child with double r117h t7 mutation. I read your thread, i'm new here. You can contact me if you wish for more details, but in short: My child is treated in a cf clinic, because of recurring respiratory infections, often intestional problems and nasal polyps. I believe it's quite rare to have this symptoms with only the r117h mutations.The doctors are not familiar with it as well, but very helpful to us. The diagnosis is atypical CF, now.
My daughter has the DF508 and R117h. It's my understanding that the r117h is a gene that is mild in comparison but I am not a CF dr. and if I recall I read that on an unofficial cf website. My daughter has 103% Fev and is pancreatic sufficient. We do the vest once a day. She is 13 and hates sitting there for 20 mins but I don't think I should skip it because I'd like to keep her as healthy as possible, considering.