F508 Delta and R117H .... CFRMS or Cystic Fibrosis Related Metabolic Syndrome

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rcwebster

New member
Hello CF community! I am new as of this afternoon to this support group. My daughter, Mia, will be 2 on July 20, 2014. She has the indicated CF gene combo and has been labeled as having 'CFRMS', Cystic Fibrosis Related Metabolic Syndrome. Anyone else out there with this diagnosis or gene combo? She has seemed to be completely symptom free so far... although she and her 6 year old brother developed coughs about a month ago and hers is not gone. Really wanting to speak with some parents of little kids with CFRMS!

Thanks, Rebecca
 
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Indianamom

New member
My daughter has the above combination also. She (knock on wood) has been healthy. She is diagnosed as CRMS too. Her only symptom was Aquagenic Wrinkling of the Hands. She just turned 10 in May.
 
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Angelo

New member
not sure what CRMS is, but if you mean being in a hyper catabolic state, that is fairly common with CF. I did not know they are now calling it a syndrome. And the aquagenic wrinkling? does that mean the fingertips getting wrinkled like a prune when in the water. I get that too. doesn't that happen to everyone? did not know that was a CF thing. WOW, after 53 years living with CF, I am learning something new.
 
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Meabtahi

Guest
Hi Rebecca,

my 6 month old little girl also has this gene combo with 7t allele on her r117h making her crms. She is seen every 3 months but so far is totally symptom free and not on any meds. We are still learning how to best handle the whole situation so I don't have a ton of advice yet but it's always nice to connect with other parents in the same boat :)
 
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Indianamom

New member
No, the first time I noticed her hands, my heart sank. It's more than wrinkling. It was so bad, I took pictures of it and showed our family doctor. When my children were born, my state hadn't started testing for CF.
 
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Plikt

New member
Hello everybody,
I'm new to this community as well. I wanted to get more information on this gene combo, as my partner was diagnosed only a week ago. And as I read through your postings, I just felt the need to say that I don't know much about CF and related mutations yet, but my partner was diagnosed with this combination at 30 years and has never received any treatment at all. The doctor even said that he won't need any treatment in the future either.
Now after the diagnosis many things fall into place, as the aggressive sweat and the wrinkling and unfortunately the infertility too. But for CF men in vitro fetilization actually is an option, as they are not really "infertile", but missing the spermatic cords, which can be handled these days.
Please excuse my terrible knowledge of the terms, I'm not a native speaker and had to look up the technical terms ;)
I just wanted to say that the diagnosis did come as a shock to us, but it seems to be a rather mild form of CF that doesn't necessarily require treatment which is great! So hopefully your kids won't need any treatment either and still be fine!
 
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bharison

Member
I am 68 years old living with CF (DF508 and R117H). I was not diagnosed until I was 64. I also have bronchiectatis. My sister died at age 21 from CF over 40 years ago. Way back then there was no genetic testing just sweat test. She and I were both always sick and passing germs back and forth. She was just sicker. I have had lung problems since young adult years and lots of lung damage. But docs always said I was too old to have CF and maybe was just a carrier with symptoms. So as I got older lungs were getting worse and I finally got to a doc that specialized in adult CF and bronchiectasis. he did genetic testing and treated me with IV drugs and followed up with all the usual CF daily drug regimen. I am healthier now then I was 10 years ago.
I have always been active, walking, swimming laps, lifting weights etc. and I do believe, that is why I am still here, so don't hold the children back from active living.
 
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lauryn.tubes

Guest
I know that this thread is pretty old, but I thought i'd jump in and say that my six-month old daughter has F1052V and F508 Delta. She has been diagnosed with CRMS (no symptoms to date), yet I've met another mother on this board who's son has F1052V with classic CF symptoms. It's a hard limbo to be in so it's nice to connect with people in the same boat!
 
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leecee

New member
My 13 year old daughter has the same gene combo and was diagnosed just 7 months ago. Hadn't heard of CFRMS so I assume she does not have that.
 
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rcwebster

New member
Thank you everyone for your replies. I am resolved to post and interact on here more often! Update on Mia. She will be 3 in July, and was hospitalized last September with pneumonia. When she got out of the hospital, she tested positive for pseudomonas and went through a round of Tobi. Repeat culture showed pseudomonas again, so we did a second round of Tobi with an oral antibiotic. Third culture done in January of 2015 and it was gone. She just had a culture done last week (April 2015) and she has it again. She has no cough and seems to be very healthy right now. I know pseudomonas is a common water bacteria and found in dirt... I would like to find out what levels of pseudomonas our water has? We are on city water. Anyone else test their water?
 
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Ratatosk

Administrator
Staff member
As far as the pseudo, the way our CF doctor explained it to us, normal people (without cf) could have a ton of pseudomonas poured down their throats and it wouldn't be an issue; however, because people wcf have extra thick sticky mucus, they end up being affected by it. DS cultured non-mucoid pseudomonas at 3 months and cultured it off and on for several years. Tobi every 28 days and if he developed an exacerbation, the doctor prescribed cipro orally. Last time he cultured it was 6 years ago and while he was in hospital for a bowel obstruction, his doctor scheduled a clean out (iv abx).

We've never had our water tested. When DS cultured it, he was an infant on premixed formula, no exposure outside of the home. We figured he picked it up when we took him to the clinic for rechecks. He did not culture it when he was released from the NICU at 2 months of age, but it turned up a month later before I went to work and he went to daycare.
 
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Aboveallislove

Super Moderator
Hey Mom,
Welcome back! I'm so sorry for the culture results. Even though that is a "common" bug, it still hits hard. Re your question: I actually had our water tested about 3 years ago and as the nice man explained the city water has to meet certain criteria and has a certain level of chloride to kill things in it. Typically the "water" they mean is stagnet water, so puddles, rain water, kiddie swimming pools, HOT TUBs, not properly chlorinated pools, dirt and sand, gardening green houses, etc. Oh, and many sinks have it too. I think the CFF has some guidelines and what to avoid. It is everywhere so it's a matter of a few "hot places" being avoided. There are many here who have cultures for years and years and they might be able to give you some reassurance. On another note: Is your daughter doing Kalydeco yet? If not, you might want to ask the doctor as it is approved for 6 and older and she could likely get off label now since it is okayed for 2 and older for other combos! Let me know if you need more info on the later.
 
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rcwebster

New member
Hi aboveallislove! Thank you for your kind reply. I would love more information on Kalydeco, what is it?? Does it help prevent infection? After I called the city this afternoon about water and spoke with a very patient and thorough man about bacteria, I realized that PA is just everywhere, and you're right, its going to be about avoiding 'hot places'. Florida is probably the worst place for PA, given there is so much warmth and humidity, so much moisture.
 
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rcwebster

New member
Ratatosk thank you for taking the time to post! Thanks for the info. It helps so much to hear each persons experience.
 
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Aboveallislove

Super Moderator
Kalydeco is a small molecule prescription medication which "fixes" CFTR function for certain CF mutations including R117H. It was originally approved for only those with G551, but last year the label added those with R117H for 6 and older. Additionally, those 2 and over with G551 are now on the label. "On label," means FDA has approved and if "on label," insurance in U.S. must cover. However, given that your daughter is r117H I think there is a good shot that it would be covered and would recommend you ask the doctor to prescribe it. I'll post the link to the two study results shortly. The drug "fixes" the CFTR function but not perfectly, but it is giving amazing results to those on it. But the improved function means that the lungs work more like a "normal" person, who as noted above have no issue with pseudomonas. And ancedotally I have heard of several who on it no longer culutre pseudo and MRSA. This study shows that it reduced the rate of culturig pseudomas by 35%. http://www.pubfacts.com/detail/2542...tients-With-G551D-CFTR-Treated-With-Ivacaftor After I post the studies and you have a chance to look over, let me know if you have any other questions.
 
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