HELP please! CF clinic wants to change dx to CRMS

[ktett821]

My 10 month old DD was originally dx in utero with CF. Her mutations are DF508 and 3849+10kbC>T. From everything I have read the 3849 mutation is absolutely a CF causing mutation. These two mutations alone should be an automatic CF dx. She is pancreatic sufficient so far, although she is not gaining at the rate the clinic would like to see (25th percentile weight for length). Stool studies have all been normal so far. She has minimal pulmonolgy symptoms but does have an occasional dry cough (daily). she has cultured staph at the last 2 clinic visits. However, when she was 3 months old the dr ordered a sweat test. Results came back in intermediate range (35-40). My clinic called and said they wanted to change her dx to CRMS. From everything I've read, if you have two CF causing mutations it is an automatic CF dx. The more I read I've learned that the 3849 mutation can also lead to lower or close to normal sweat chloride levels but still cause significant lung problems. They did a second sweat test at 6 months and the results came back slightly lower. Now the pulmonologist argues with me on her dx, saying that he doesn't agree that she has CF but will continue to treat "as if" until we can get further "evidence" that she actually has CF! He said he is only agreeing to this because I've pushed so hard against the CRMS dx, because I am terrified that if we stop all treatments now to wait and see, she could develop severe lung damage later on down the road that we could begin preventing now.
I'm hoping to get her in to another clinic in the area for a second opinion. But has anyone ever heard of this? I know there are people on these boards with these same mutations. Have you had similar issues? How were your sweat test results? Any help or information out there would be greatly appreciated.

 

[jshet]

I would think they would not change any of her therapies as long as they are helping. I wouldn't be too concerned with them changing what they are calling it as long as she is getting everything she needs. Maybe they are waiting to see what symptoms arise in the future if any. They can always change the diagnoisis back. Good luck and for your own peace of mind, get a second opinion. You don't want anything to be missed. Sometimes a new set of eyes is the best thing to do.

 

[Justinsmama]

Hi,

I want to share our story. My son is one of those qwirky cases. He is completely pancreatic insufficent (25 on fecal elastase) since he was 6. Because they only found 1 mutation on the testing and he passed the sweat test, he was followed "as if" but not truly diagnosed. Unfortunately for us, his pulmonary function slipped a lot during these 6 months. He developed 4 pneumonias (infections with 2 being called pneumonia) in a row. After the first, we got a second opinion from Hopkins and he was diagnosed on the spot. Thank goodness, because he has had a lot of problems with small airways in the past 16 months, being on antibiotics 8 times and oral steroids 3 times. Thank goodness we got the proper treatment and now he is being followed correctly with vest, saline and Pulmozyme. If you are not comfortable, PLEASE get a second opinion. The doctors are only people and can only rely on their own experience. Maybe a fresh set of eyes will see something different. God bless and good luck!!!

 

[ktett821]

Thank you for sharing your story. I definitely plan to get that second opinion.
The problem with changing her dx is that insurance won't cover the vest. He is also mentioning invasive procedures to confirm CF, including putting her under and using a scope to look at her lungs. It just seems so unnecessary to me since we have the genetic testing results.

 

[Emersonsmom]

My daughter is 14 months with these same mutations. She has a CF diagnosis because they are both "known" cf causing mutations. She is doing remarkably well and is at the higher end of the growth chart depsite being mildly into the PI range. We also do preventative treatments 2x daily for her respiratory system. Feel free to email me at jenniekraus@gmail.com and I will share more of our experience with you. Good luck.

 

[Julie7]

Hi, my son in in limbo but not with same mutations. I've heard others go to a genetics dr to confirm diagnosis and therefore move on with best plan. Wondering what thoughts are here on this idea? I've heard Johns Hopkins has a good one. We go to Boston Children's but we've not seen a genetics dr yet.

 

[jaimers]

Hi there, i'm 28 years old and have the same mutations as your daughter. i would seek out another cf clinic immediately--is the one you're currently at an accredited center? Though a few of the people i know that have these mutations are pancreatic sufficient and don't have severe lung involvement they DO have symptoms that need treatment! I was diagnosed at 3 months old (failure to thrive) and am actually pancreatic insufficient and my lung function is around 55%. I think one of the reasons it's this high is that my parents worked their butts off with my care early on and additionally had me in all sorts of activities and sports. I've definitely gotten more sick over the years but I really think the diligent treatments early on made a huge difference for my life now. There is a group on FB(https://www.facebook.com/groups/401508106572211) of people with these two mutations. I think they might be a great resource for you! feel free to message me here or privately if you would like to talk more!

 

[CFSanDiego]

Hi. My daughter (6) has these mutations. She is pancreatic sufficient. We did not know she had cf until she was 3. The only reason we found out was because we were going to try to have another baby and my new obgyn had us carrier tested. We rushed her in for testing and found out she was positive. She had zero symptoms prior to diagnosis and although her pfts (lung functions) are 120% of normal they would not be if we weren't doing aggressive treatment. When she has gotten a cold, especially a bronchial one, if she didn't have treatments she would have probably been hospitalized on a few occasions. In fact, she has cultured staph and now pseudomonas. These are typical bugs that only compromised lungs culture. If I were you I would get to a new clinic. Those doctors do not sound proactive to me.

 

[ktett821]

Thank you again for your responses. I'm curious if those of you with the same mutations have been sweat tested. If so, what were your results?
The clinic we go to is accredited, Children's Healthcare of Atlanta. After the first sweat test, they called and told me to stop all treatments. We did, initially, and within two weeks she was coughing again. We started the treatments again shortly after that. I have mentioned this to the pulmonologist and he says that a cough at this young of an age, would not be related to CF. Basically his rationale is that the sweat test is negative, therefore CF is not likely regardless of her mutations.
We considered switching clinics back then, but the GI doc agreed with us and told us to start all treatments again. She is the only reason we wanted to stick with that clinic because we absolutely love her. But clearly it is time to find a new clinic who will provide the right care.

 

[CFSanDiego]

My daughter's sweat test was 58. These mutations are both tested for in the 32 mutation panel and are known disease causing mutations. Please join the Facebook group. There are many adults on there who can help you. If you want to pm me your phone number I can call to discuss. Otherwise just post on the Facebook page. How close is the next closest clinic? At least get a second opinion. I have gotten second opinions on various things for my daughter in Minnesota and Stanford (two of the top clinics in the us) and one thing is for certain...there is no question that treatments are key to keeping her healthy. Regarding the 40 sweat chloride? I would have then test again, maybe at the second opinion clinic.

 

[JustaCFmom]

My kids have W1282X and 3849+10kbC>T and they are all over 100% pred FEV1 (technically this is "normal", but they all have brochiectasis).

My 16 year old daughter got the mumps at 14 and shortly afterwards started coughing. It took us a year to get the CF diagnosis and her FEV1 was around 75% predicted at the time. She had *No Significant lung issues* until age 14 and I think that is how she was able to recover and have 100+ as her baseline function! My 21 yr old son only got diagnosed because of her! (His FEV1 is around 130%)

They are all pancreatic sufficient and their weights are fine. Our dietician commented how she isn't used to having such tall patients (my daughter is taller than me, I'm 5'4).

They all scored positive on their sweat tests and I have the reverse problem of you. I tested positive and 2 kids! (2 of us are carriers and one doesn't have any CF mutation. She would be treated for CF today if not for genetics! she seems to be asthmatic)

I think if you want to try and raise her sweat results you need to really feed her a lot of salty foods.

That being said, I am SHOCKED the doctor doesn't maintain a CF diagnosis with those mutations. Huh? Especially with culturing staph -"she has cultured staph at the last 2 clinic visits"- that isn't a normal bug to be in the lungs. I wouldn't do any scopes. Do they do CT's at this age? I think the genetics is enough also.

Don't be passive. You can do the CPT and be proactive. There is no vest here in Israel, we use the "accapella" PEP system for older children and most of the world doesn't use the vest.

Good luck and hope the 2nd opinion is what it needs to be. As I mentioned before, my daughter didn't have ANY coughing until adolescence. Nothing.