confused about diagnosis

Bigmonkey

New member
Hello everyone

I have a daughter now 3 years old who was diagnosed with newborn screening . The diagnosis was made without a sweat test which she has still not had as the doctors at the hospital told us the genetics are enough to confirm she has cystic fibrosis the disease. She has never shown any symptoms and is pancreatic sufficient, she has never had a lung infection or any illness. We have never given her prophylactic antibiotics although we have always been pressured to do so by the doctors. We have felt very threatened at times. We are not in denial that she has the mutations but cant understand why the doctors seem to just want to follow guidelines instead of looking at our child.

Any advice or insights will be greatly appreciated

P.S. i am not a big internet user and have never joined a forum before so i hope i get this right.
 

beautifulsoul

Super Moderator
I can only imagine your frustration. Hopefully a few of the other active mom's on here will chime in. From my knowledge the Gold Standard for CF screening is a sweat test. Are you seeing Dr.'s at an accredited CF center? If you're not I highly suggest looking into a hospital with CF credentials. They have the best of knowledge as far as testing.

Here is a link to find a CF center near you:

https://www.cff.org/Care-Centers/Find-a-CF-Care-Center/


I hope you receive some answers soon!

Hugs,
 

Printer

Active member
If your child has tested positive for two known mutations, it is pretty certain that she has CF. She should be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. If you would post the name of a large city near you, we will help you find an approved center.
 

Bigmonkey

New member
I live in London, England . Over here you just get sent to the nearest hospital with a specialist cf clinic . You can't go to a private hospital because the cf doctors have formed a syndicate agreeing not to see cf patients outside of the national health service. I understand my daughter has the mutations but i read about cases that never display symptoms and i know it might be too much to hope for but i feel pushing antibiotics on a child so well is going to do harm.
 

Bigmonkey

New member
Oh and thank you for replying i already feel less alone. we are discouraged from talking to other parents here except on a very censored forum.
 

triples15

Super Moderator
I live in London, England . Over here you just get sent to the nearest hospital with a specialist cf clinic . You can't go to a private hospital because the cf doctors have formed a syndicate agreeing not to see cf patients outside of the national health service. I understand my daughter has the mutations but i read about cases that never display symptoms and i know it might be too much to hope for but i feel pushing antibiotics on a child so well is going to do harm.

Hi and welcome Bigmonkey! You did great with your first time posting. ;) I know it can be overwhelming, but you should always feel welcome to ask questions and chime in whenever.

I'm glad your daughter is being seen by a CF specialist. I'm not super well versed on England's healthcare, but I am assuming she is in good hands. I completely believe you when you say you are not in denial, but are rather asking questions. As a parent, we want to know/learn everything possible so we can do everything we can for our children. In my case, I am the one with CF but we do have a 5 year old daughter and I know I'd be the same.

I am going to concur with Printer, with having 2 mutations identified it is pretty safe to say she has CF. A decent number of folks with CF are pancreatic sufficient, and CFers are actually born with "normal" lungs. Usually over time lung infections start to develop in the thick sticky mucus and ongoing/repeated infections and inflammation lead to permanent lung damage. Over the years on this site we have seen many cases where one's lung involvement does not start until further down the road. In fact, folks are now being diagnosed in their teens, twenties, thirties, and beyond. Some DID have symptoms long before that, but diagnosis eluded them. Others didn't have symptoms for many years.

One thing I will say is that it's actually very advantageous that she has the diagnosis because proper preventive treatment and care goes a LONG way in the CF world. On that note, I'm going to be honest and say that I'm not sure what I would do in regards to the antibiotics they want to do prophylactically. We hear SO much these days about antibiotic resistance etc. so I understand the hesitation. Granted CF is a WHOLE different ballgame and I was on antibiotics for years and years as a child, but no longer take any antibiotics prophylactically. Can I ask which drug they are wanting to use? I ask because here in the states CF docs often prescribe Zithromax (azithromycin) to be taken 3 times per week. While it IS an antibiotic, when used this way they are actually using it for it's anti-inflammatory properties. I do take that. Are you doing airway clearance and/or nebbed albuterol and/or saline? If I were me, I *would* do those if the care team has recommended it. As I said, the preventive treatment can go a long way, even if you are currently seeing no symptoms.

In regards to the diagnosis and sweat test.. In my opinion, the sweat test would be going a step backward since 2 mutations have already been identified. There are lots of folks who actually "pass" a sweat test with numbers in the negative or borderline range, but later 2 mutations are found and they are diagnosed with CF. If she took a sweat test and passed, I think you would still have the diagnosis. That being said, I don't think it would HURT anything to do one. They are painless and pretty inexpensive (relatively speaking). If it were positive it may shed some more light, but if it were negative there's a decent chance her docs would not want to change any of the treatment they are recommending, based on the presence of the mutations.

A couple kind of wild outliers I feel I should mention.... These are not likely scenarios but could be questions for you to ask.. First off, do you know the mutations specifically and could you give us those? We have lots of very knowledgeable folks on here who may be able to dig up some info on the mutations for you. There are now some (very few) CF mutations that are found to "non-disease causing". Which to be honest with you, I don't fully understand. These are identified mutations, but they appear to not cause the disease. Other REALLY crazy, and HIGHLY unlikely thing I want to mention, is that we've had at least one person come through this forum who indeed had two CF mutations, but both mutations were on the same allele.. If I remember correctly, this person did not have CF.

Whew, I feel like that's a lot. Let me know if you need clarification because I can kind of talk in circles. The last thing I want to say is that it is awesome how well your daughter is doing and I have a feeling she will live a long full life. I'm sure you know, but there is SO much excitement going on in the CF research world right now and progress is being made in leaps and bounds.. I've been around for 36 years and thinking about it makes the hair on my neck stand up. I think the prognosis for you daughter is bright. I was diagnosed at around 3 months old in 1981. I didn't have any digestive issues, but did have a cough, even as a newborn, and first lung infection at age 2. At that time my parents were told I would be lucky to live into my teens. Today I'm 36 years old, a college graduate, a wife and mom. :)

Well I better run, but take care!

Autumn
 

Bigmonkey

New member
Thank you everyone it is extremely good to talk openly with people about my fears and hopes. It is very difficult to discuss anything here in the U.K. as we were told very early on if we did not follow the advice given by the specialist there would be consequences and we would be reported to authorities as bad parents. You can imagine then turning down the prophylactics for three years has made us paranoid and we have spoken to a few other parents who have experienced the same threats.

The antibiotic recommended was Flucloxacillin 5 ml twice a day which the cf specialist said would only target bad bacteria and could no harm. At the last meeting they did not mention prophylactics so perhaps that is it for now.

The mutations found are fdel508/w1282x . I have looked these up on line and they are both disease causing. P.I. 99% of those on register.

A diagnosis of P.I. was made for my daughter based on one low elastase reading of 58 but no symptoms and we started giving creon as prescribed. We felt uneasy about the diagnosis and asked for repeat elastase tests but were told it could never go up. After a couple of months we decided to do private tests and got results for elastase ranging from 150 up to the latest one of 325 which is in the normal range. We stopped using creon about a year and a half ago with no bad effects. The doctors now say she has become P.S.

I read that in the states cf clinic doctors and staff wear gloves ,gowns and maybe masks but they do not do that here. At clinics you often find yourself in waiting areas with two or three other cf patients. I expressed my concern about the possibility of cross infection more than once but have been told that as long as you stay 3 feet away from each other germs cannot pass from one person to another and that there is no evidence that cross infection has ever occurred in the clinics here.

We have never seen or heard any mucus in our daughter and the physio said she did not seem to suffer this complication at present and has not recommended any lung clearance regime other than staying active and jumping on the bed. Her blood oxygen level has always been 100%.

I sometimes feel guilty about telling people how well she is but i just want her to stay that way. I am her father and accept this might change and i also am grateful that we know the mutations so we can monitor her closely.

Lastly i want to say i know that a lot of people here get a great deal of help that they really need from the clinics and do not want to come across anti doctors or medicine.
Maybe i just want to speak about things i have kept inside and i know that perhaps there are no clear answers.

Thank you again
BM
 

Ratatosk

Administrator
Staff member
DS was diagnosed shortly after birth due to a bowel obstruction. For the most part he didn't have any respiratory symptoms, some sinus issues. His cf doctor is very proactive and stressed keeping lungs healthy despite no symptoms -- cf is a progressive disease and eventually due to extra thick mucus, infections... lung damage will occur. I've never heard him cough up any mucus, he has had some nasty stuff come out of his nose with sinus rinses when he's gotten really stuffed up.

Being in the states, we had a choice in terms of cf care; however, our local cf clinic in town wasn't as proactive. We were very uncomfortable with the community waiting room, we were made to feel we were overreacting when we questioned some of their infection control policies, or lack there of. Their justification was they'd never had a patient with cepacia. I was so stressed out prior to and during cf clinic appointments. Reminding staff when they entered the room to wash their hands and I used the wipes in the exam room to wipe everything down. We now travel to the city about 3 1/2 hours away a few times a year for CF care. As do several other families in our community.

A prophylactic was prescribed, especially since we were going to be sending ds to daycare. The concern was should he get strep, his lungs could be irreparably damaged. Every time a new drug was prescribed, it brought home the fact that DS really did have CF. There were bronchodilators to go with 3-4 time daily chest physiotherapy (CPT) sessions. Medication to keep his liver and gallbladder happy, enzymes to digest food, vitamins. Then there was the dreaded pseudomonas culture -- I hadn't even been back to work, ds was home, so we're pretty sure he acquired that infection from the NICU or clinic. So an inhaled antibiotic was added twice daily. At 2 1/2 dnase (pulmozyme) was added to help clear mucus. Also azithromycin -- not as an antibiotic but to help with inflammation. Other than his stay in the NICU for his initial bowel obstruction, he was relatively healthy -- a few colds and ear infections that first year.

We basically took things day by day... got into a routine, focused on keeping him healthy and having a relatively normal lifestyle. Today DS is an active teenager. CF and treatments are a part of life. It's all he's ever known.
 

triples15

Super Moderator
You are welcome Big Monkey! I am sorry that you feel threatened by the clinic. :( That is not good at all for the doctor-patient relationship. I think threatening to report you over prophylactic antibiotics is pretty extreme. Obviously, cases of medical neglect do get turned over child services, but normally in far more extreme circumstances. I actually worked for CPS (child protective services here in the states), and I can't imagine us accepting/investigating a case on this alone. If we did, it would probably be more of just an interview of the parents/meeting the family and either closing the case or recommending just monitoring the situation. No judge/court in their right mind would remove a child over this, so I think your level of concern should be minimal. I'm glad that this was not mentioned at your most recent appointment. On that same note, Flucloxacillin is the essentially the same antibiotic I took throughout my childhood. Mine was dicloxacillin, but they are very similar and considered interchangeable.

Thanks so much for the info regarding the mutations. You seem pretty knowledgeable, so don't know that you need us finding tons of info for you. ;) As we know DF508 is the most common mutation, and a class 1 mutation. I did a quick search on W1282X and found that it is the 5th most common mutation, as well as many interesting articles. With those being the two mutations your daughter has, it is certain she has CF, and a sweat test would be futile at this point (my opinion). I found my info on the Toronto sick kids database. If you haven't checked it out yet, here is the link:

http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=539

From that page there is a link that you can click that brings up many articles regarding the W1282X mutation. Sorry if this is redundant, or not the type of info you are looking for.

As far as the cross contamination protocol. Ugh, sorry they are not gowning/gloving etc. In my clinic we do also share a common waiting room. Upon sign in we are given a mask, but that's all for the waiting room. I try to sit as far as possible away from everyone or just go stand by the door. Once in the exam room everyone that comes in wears gowns and gloves. Hopefully your clinic revises their policies soon. It hasn't been very long that clinics in the US have adopted these practices. My clinic has only been gowning and gloving for about 2 years.

I wanted to address one more thing from your original post where you mentioned that they seem to only want to follow guidelines rather than looking at your child.. Believe me when I say I am not trying to make you feel bad or "take their side", just want to pass along something my doc has told me over the years.. In CF, they are looking at the research as it directly relates to patient outcomes. The research (as my doctor who I trust and respect has told me) shows that in treating CF, MORE is almost always better. For example, the Danish method, which involves using IV antibiotics up to 3 times a year whether having an exacerbation or not has produced some of the best clinical outcomes. Patients there tend to live longer and healthier. Most doctors here recommend a once a year "tune up" of IV antibiotics, whether sick or not. They say patients who do this tend to have better outcomes. I think while they acknowledge your daughter has no symptoms at present, they also know what they know about CF research and outcomes. I think they are trying to do what's best for her. With CF sometimes you have to kind of throw everything you know/think about conventional medicine out the window because it's it's own animal. That said, If I were you I would maybe reconsider the antibiotic. If you still feel it is not best, I think you attend CF clinic regularly and keep a very close eye on it and start treating at the first sign of trouble. The other thought I had is that I think here it is pretty standard practice for kids, whether symptomatic or not, to start chest physiotherapy and nebs. I'm kind of surprised that has not been mentioned. I do think exercise and activity is great at this point! My mom always says she thinks being very active as a child helped me a lot.

I've gotta run, but talk to you soon,

Autumn
 

Bigmonkey

New member
Thanks triples15

This experience has already made me and my partner feel less isolated.

Just being able to say what you feel without the worry of being judged by someone in authority is great especially when you really are looking for advice.
I have been reading several older threads and find them very interesting often they are related to questions i have asked myself.

Thank you for your advice i will take it seriously when making any decisions about future recommendations.
Best Regards
BM
 

Poolshark

New member
Welcome, I get regular the latest on the forum updates from this website but had to rejoin to post. My 22yo daughter has those same two mutations. They are not considered mild and she has a severe amount of GI disease, including full blown cirrhosis. We have been lucky with her lungs and her PFTs are still over 90 % and she has not yet had a tune up (knock wood). If you have stopped the Creon I would pay close attention to your daughters nutritional status as that is a key part of staying healthy with CF.

M.
 

Printer

Active member
BM

There are almost 2000 known mutations, any 2 will cause CF. This means that there are 4,000.000 (2000 X 2000) possible combinations of mutations that cause CF. In other words, there are up to 4,000,000 versions of CF. It is fruitless to compare patients with different mutations. The Doctors can only treat the symptoms as they appear at any point in time.

Bill
 

Bigmonkey

New member
Thank you Poolshark and Printer

I agree with you both . We are a little obsessed with making sure she gets all the right food containing all the necessary vitamins and minerals of course any parent should be but when you know they have cf it makes it a lot more important. This is my first child and aside from her diagnosis watching her grow and develop is fascinating and beautiful.


The belief that no two children are the same and require individual care is one i share completely especially now we know so many other genes can be involved with how it presents.

BM
 

Rebjane

Super Moderator
My daughter has the same mutations as your child. The reason the same mutations can have different symptoms in those with CF are many; but include modifying genes, environment, social, economic factors, compliance, the list goes on. My daughter is extremely pancreatic insufficient. She also has never had a sweat test.

CF is complicated however, prevention is key for good health. Making sure your child gets good nutrition, their vaccines to prevent childhood disease as well as the flu shot. Good airway clearance, exercise, vitamins...
 
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