Maybe CF, Maybe not?

[WildCherry]

So I've been parusing this forum since February trying to get information since February. Many times I've been tempted to post our story and my questions but have been too afraid to hear what others have to say since we still have some hope.
In January we had our second baby boy. 5 days after his birth we found out that his newborn screen tested inconclusive for CF with a slightly elevated IRT level of 117 and one copy of DF508.He then had a sweat test when he was one month of age at Children's Hospital of Philadelphia (which is CF accredited and one of the best in the nation)which yielded a result of a very borderline 30. A repeat sweat was done a week later with a 31 as the result.The Pulmonologist ordered a complete gene sequence to give us a confirmatory answer. Well it turns out we are still in limbo. The sequence found 3 variations that are know to be non-disease causing and R1162L which is a known variation but they don't have enough information to determine if it's disease causing or not. Google yields almost no results regarding this variation butit is in the database and says there are 9 people in the dataabase with this variation. Wouldn't that mean it's disease causing since you can only get in that database with a dx? My husband says that those people could possibly haveother disease casuing mutations as well. SoPulm ishaving us come back at 6 months of age for an evaluation and will order another sweat test which is reccomended. If it comes in under 40 (which is the borderline sweatlevel at 6 months of age) he is going to send us off and maybe requireus to come back once a year or unless he develops symptoms. If he's 40 or above and still has no symptoms he will have him come back every 3 months for evaluation. The baby currently shows no symptoms which I know may not show up for yearsso we currently don't have a diagnosis. The doctor uses the terms CF Related Metabolic Disorder, Atypical CF, mild CF. I get nowhere when I google these terms. I plan on asking more at our 6 month appt in July but thought I'd see here if anyone suffers from "mild"CF, is dx with only the metabolic disorder or Atypical Cf and could give me your story of what you or your child experiences. He said in cases like this it's mostly respiratory and less digestive.
I still hold hope that our little guy is ok and that maybe both the variations of concerncome from my husband (we know I don't have the DF508 from my carrier screening during pregnancy). I know that every CF case is different and that it doesn't carry the death sentence it once did. The doctor assured me that I wouldn't outlive my baby but this state of limbo is just awful! I'm preparing myself for the worst and hoping for the best which at this point I guess is the only thing I can do.

 

[Printer]

You are NOT going go get any information here as good as what your doctors are telling you.

If son has 2 mutations, he got one from hubby and the other from you. Both mutations CANNOT come from one parent. A full screening is more than 1800 mutations. Your carrier screening DID NOT screen 1800 mutations. We can only be sure that you don't carry the Delta F508 and that Delta F508 mutation came from Hubby but that is all that we know.

GOOGLE IS NOT A GOOD SOURCE OF INFORMATION ABOUT CYSTIC FIBROSIS. If you want to do some studying of CF contact the Cystic Fibrosis Foundation.

Bill

 

[WildCherry]

That's a lot of CAPS. Are you yelling at me?

Actually just because you have two mutations doesn't mean you didn't get them from one parent. The test doesn't show which chromosome the mutuations are on. As you know in order to have the disease you need to get one mutation from each parent. I'm well aware my carrier screening didn't test for all and that there is a chance I could carry The R1162L. I believe I only mentioned my screening to note we can rule our me being the DF508 carrier. I am an educate woman can clearly know where to draw the line as to what "google" is credible for and I actually talked with the doctor about the "internet" and that it's both good and bad. He actually told me to stay off forums and blogs an stick to the clinical research which is all online. Clearly as I might have a child with CF I went to CFF.org and we have read the extensive clinical reports found both there and elsewhere online.

With my post I was hoping to find some stories about people with mild CF, atypical CF, and the metabolic disorder to possibly get an idea of what may come. Maybe I posted on the wrong board.

 

[Printer]

Clearly I missed the subject of your post.

I"M sorry to have interjected my thoughts here. I bow to your superior education.

Clearly I have been misinformed. Again I'm sorry.

Bill

 

[Timothy468]

You clearly "get it" about what you are dealing with. The two mutations could be on the same chromosome so that makes it harder to tell.
They can look at parental genes, but it may not get paid for (if both copies are in one parent it answers the question of whether it is on one or two of the chromosomes). They can also try to sequence the gene to see if copies are linked or not to the same allele (by snipping "long sequences" they can see if both are on one allele or not).
The hardest thing is the living with uncertainty. In a way (a big way) it is the same uncertainty that a parent with a confirmed diagnosis lives with - 'what is going to happen to my child?'
One approach is to treat him "as if" he has CF and to simply follow his course and to back off in frequency of visits if he continues to demonstrate wellness without any need for therapy. That may not relieve the feeling of uncertainty, but that may change with time anyway. It certainly does in my experience in families of children with a confirmed diagnosis - over time the sense that their child is "broken" shifts to one of feeling that their child is normal and simply has a disease (that requires attention). Telling people that this change happens doesn't make it happen - only time does that.
Finally although the degree of positivity of the sweat test does not correlate with severity of disease, a very low sweat test may be typically found in mild disease.
Hang in there - I hope they and you figure it out!
Tim
(new to forum - first post!)

 

[auntiepam]

From everything that I have studied, the child must receive a mutation from both parents. That is the difference between a carrier and somebody who has the disease. My niece has R1066h and D508, she is also being treated at a reputable CF center. All of the Dr.'s advised that R1066H was a mild mutation, that they did not have a lot of information about it. She is pancreatic insufficient and takes enzymes. Her Dr.'s are very pro-active and have started her on breathing treatments, to safeguard her lungs. Every CF patient has a different experience. Trying to connect the dots to figure out the futuer disease progression will drive you nuts! Take one day at a time and be pro-active. I hope everything works out for you and your child.

 

[WildCherry]

The uncertainty is very hard and I do know I'm not helping myself out by asking for others experiences since no two are the same. I can already tell I'm coming to terms with the what if's just by the fact that I'm able to read about CF without crying, I can post here, and I can finally look at my baby and see a healthy thriving boy who may or may not have a problem. While the first few weeks were very dark and scarey I can see light and I have hope that everything, no matter which way our story goes, will be ok. Thank you for your responses.

 

[WildCherry]

Oh and Bill I meant no disrespect. I came here to take advantage of your superior education on the subject at hand since you all personally deal with it day in and day out, and unfortunately your response, whether you meant it too or not, came off as rather condescending which leads me to get defensive...and use the word clearly...a lot.

 

[Printer]

WildCherry:

I will not repete my error, I promise.

Bill

 

[Jessesmom]

All the best to you and your baby boy, WildCherry! I remember those dark days, when we were in limbo last year! Here in Canada genetic sequencing is only done for 80 mutations, so in a way I still do not know for certain if baby has Cf or not. He's considered a carrier (DF508, which comes from his dad), and seems healthy, except he's off the chart for weight, his brothers are both Failure to Thrive, and one has asthma.
Hang in there, and meanwhile, enjoy your little guy!! Praying for you! And please stick around, you have found the right forum!!

Ps Don't mind Printer - he's just making sure you get a right diagnosis, and not to late!

 

[auntiepam]

Wild Cherry, I'm sending hugs your way! Our family was where you are at a couple of months ago. I drove myself crazy trying to convince myself that my neice did not have this disease or try to assure myself that she would have a "mild" case. Thank God, so far so good. She's beautiful, and thriving, she's 51/2 months old. I pray for the best and brace for everything in between. Just know that you are not alone, and things really are going to be OK! The CF group seems to be close knit and really helpful. You are among really good people that only want the best for you.

 

[JustaCFmom]

Hi!
I have 3 newly diagnosed kids with CF, ages 8, 16 and 20. My now 16 year old just suddenly started coughing out of the blue when she was 14. This went on for over a year until we got our diagnosis and went on to check the rest of the family. Her lung functions (FEV1) have gone from about 50 to over 110. She is glad she had a "normal" childhood and I am glad we have a "mild", atypical version (ie. pancreatic sufficient = no enzymes and good BMI)
Overall, I think the newborn screening is great, but it is hard if you are in the "grey" zone. Just enjoy your beautiful baby!! You are in good hands and no news is good news. :-D

 

[Beccamom]

We are also in limbo for a diagnosis. My daugher is 12, and I sent you a Private Message.

Jen

 

[sanfloraine]

WildCherry, we too are in a grey/waiting area with partial symptoms and a CRMS diagnostic but not a CF diagnostic.

My boy is 24 months old. He started to have the worst stinky diarrhea after I stopped breastfeeding him at 13 months old. Diagnosed in January at PI (fecal elastase at 148 in February, to be repeated in August). He takes ZenPep at every meals. His weight/height curve is fairly OK, though on the small side.

Negative sweat test. He had a fairly complete genetic testing of almost 2000 mutations (but no deletion/replication so not really complete), one mutation. Based on all of that he has been cataloged as having CRMS (CF related metabolic syndrome) by his GI (not a CF specialist but he consulted with a CF GI specialist to give this diagnostics).

Now I am not a CF genetic sequencing specialist but I used to run PCR myself (even on common CF genes, ironic), I work with people who run PCR and I know that PCR is a great science but prone to mistakes. In our case, our GI doctor actually suggested that we may want to repeat the genetic testing in the future.

Other symptoms that my boy has been experiencing:
- he often has airway congestion, was diagnosed with asthma he is on Flovent/Albuterol
- 1st sinusitis at 15 months old
- he had unexplained hypotonia of the legs as a baby, finally started to walk at 19 months old - we assume it was from malnutrition (there is a similar case on Great Strides, and the parent say malnutrition is what caused their baby's hypotonia).
- he just had adenoids/tonsils surgery and the ENT doctor mentioned CF because this area of his body was full of thick mucus that this doctor generally sees with CF kids - he has done this surgery many times on healthy and CF kids. We got this last bit of information last week and we are now very worried. Until last week we were doing quite good with being fooled that he has not CF, but not anymore.

We are fighting to be taken seriously by our local CF clinic. We saw them last in February before the genetic results. We got the impression that they totally ignore grey cases, it's only black or white for them. Not happy about that. We have an appointment in July but if they keep ignoring us we will fly to an other clinic. Unfortunately there is only one within driving distance.

I should mention that as a mom, I have symptoms that could make me a 'good' CF carrier: severe shorteness of breath/asthma since I turned 18 (pollution had been known to make me very sick) - I am 43. Currently fighting sinusitis. Makes me wonder.

 

[LittleLab4CF]

I may be just what you are looking for. First diagnosed at 50, by virtue of the fact I am still alive at 62, my CF is "mild". I am heterozygous (one copy) for CFTR S1235R, homozygous CFTR M470V with a 7T/7T polymorphism. Prior to what in 2002 was a very expensive test, I had a positive sweat test placing me squarely at the high limit followed by a pancreatic function test that was a new record for bad. The sweat and pancreatic tests diagnosis was a positive for CF. The interpretation of the genetic test, not so much. You mentioned R1162L and I read something very familiar. "No known disease symptoms associated with this mutation". Not! The army of researchers working on CFTR mutations just hadn't or some argue haven't gotten to study and establish symptoms. Scientific syntax can easily mislead. My CF doc got it wrong the first few times. But, the important but, the genetic report classifies me as atypical because their test classified me as a carrier but other diagnostic tests confirm I am.

So how has my mild atypical (and undiagnosed) life been. I have lived more than any five people could hope for. Tolerated as a patient without a clear diagnosis, I have been consistantly minimalized by the medical establishment. Oh, I have had countless ear, nose and throat infections. In the 50's they didn't install those neat little tubes around the ear drums, they waited til your drums were about to pop...and then lance them. Then again I spent tens of hours under a heat lamp while the doctor would periodically stuff cocaine laced swabs into my sinuses while thick gick poured down my throats. Every opportunistic disease hit me first. If I got sick, Public Health went on alert. I have had canker mouth, thrush, meningitis, encephalitis (honest) and so many cases of pneumonia, we just kept oxygen and surplus medical instruments at home. In fact, my parents' attitude was worse than the most jaded doctor. They cut me no slack, if I wanted to stay home from school, I had to stay in bed with books, no toys. I sat in classrooms so sick, I couldn't scream, which too often I wanted to. I got my education, loved every job, started several businesses, married, took the last company Public, traveled the world like few others. I have spent 11 years in total traveling to more countries than most people can name.

I am paying for the missed diagnosis in terms of vitamin and mineral deficiencies. Not a problem for your little ones. I would take the advice recommending you treat your children as if they have CF. I have endured malnutrition, serious GI problems, my lungs are radio opaque and bones that are not. My teeth came in with cavities. My only honest complaint about my health. Pancreatic autodigestion means just what it says but they don't know if it will take a year, decade or decades. Sadly my pancreatic autodigestion is almost complete. What only a few people besides this group can comprehend the pain of pancreatitis. A subject for another time.

I received my doctorate in genetics when diplomas were done with a crow quill rather than a laser printer. I try to keep current in genetics and from all I read today, I need to scour the latest publications and my autodidactic ways, get straight on CFTR gene mutations.

You can bet any mutation possibly can pop up anywhere in the chromosomes. The CFTR family of mutations was the genesis of all research dealing with genetic diseases. Cystic fibrosis, like artificial yeast genes and FISH (no I am not shouting) has been the genisis of genetic analysis from PCR to gel electrophoresis. When sperm and egg hook up, it needs to be one to one or you have problems. Chromosome for chromosome, gene for gene. It isn't impossible for delta F508 to copy itself and give multiple copies from one parent. I would never accept this idea without three independent researchers personally presenting this argument. Printer pointed out the number of CFTR mutations are nearing 2000. In 2002 they had laboriously teased out around 400. The list was longer but so is the human genome. They know so little about our genome, but we know the sequence. Printer is as knowledgeable as he is gracious. He is a veritable plethora of knowledge and wisdom. Take it from me, people who think they know everything are particularly irritating to those of us in fact do. Yes that was a joke. Printer has a decade on me and I am humbled. And after you lashing, we all have been advised of the true purpose of this forum rather than engaging in search engine sophistry. There is a collective of people ravaged by a poorly understood chronic wasting disease.

 

[CrisDopher]

WildCherry --

I have reached the point where I almost lament that the CFTR gene was found at all. The sweat test was - and still is - the gold standard for diagnosing cystic fibrosis. The genetic testing is not definitive, yet so many people are hyper-focused on it. They think that if they know their mutations, they'll know exactly what problems they'll have and how to handle them.

Only CF doesn't work that way. It is not nearly so cut and dried. Take the pool of us who are double delta-F508: we all exhibit wildly differing manifestations of the disease even though we share the exact same genetic foul-ups. Some of us manage to get well into adulthood before ANY symptoms of CF appear. That alone should be convincing that reliance on genotype for diagnosis or treatment is a wild goose chase, a fool's bet.

So. My forward-thinking advice is this: if there is a failure to thrive, his digestive efficiency should be checked (fat in the stool). Enzymes if needed. If there are lung problems, those should be treated. If there's any indication that your son might have CF (and I guess you wouldn't be here if there wasn't), then the rule of thumb is to treat as if the diagnosis is already confirmed and to initiate the preventative therapies - exercise, vest, pulmozyme. These things won't hurt him if he doesn't have CF and can only help if he does.

As it happens, I wasn't diagnosed 'til I was 4, and then only by the chance passing of an unrelated doctor in the hallway. It took eleven sweat tests to get a solid diagnosis. But in the meantime, they treated me for the obvious problems in front of them (failure to thrive, mostly).

 

[Beccamom]

CrisDopher
You wrote it took 11 sweat tests for a diagnosis. I am curious. Do sweat test results varry that much over tike? My daughter is in CF diagnostic limbo and as you suggested is for the past year treated for CF (vest, hypersal, etc). Should she have sweat test rechecked because she is 12 years old.

 

[LittleLab4CF]

Beccamom raises a good question. My sweat is so extreme, a passing breeze will often evaporate the water leaving my skin, especially my forehead looking dry and scaled. It is just dry salt. When I go bicycling, I wear two sweat bands. If exercise sweat gets in my eyes it burns like sin. I immediately drown my eyes in clean water, this is serious concentration. My sweat test at 50 was repeated because it was so high, not marginal. Gold standard it is but it seems so arbitrary in the variance of precisely how the test is performed. Add in no real controls on the patient. Nothing about foods before the test that could alter the numbers. How about a nice hot chile releno topped off with a bowl of salty tortilla chips and salsa? Done "by the book" adding some common sense rules involving foods, exercise and environment must be considered. In Boston's Childrens Hospital they have a standard test protocol. Two tests on different days yielded results were statistically identical. I too have a bag full of stories involving irregular results. I also got an ear full of how sloppy this seminal test is performed without a common sense protocol, which at 50, they had no (large population test matrix) established scale to determine how remarkable, or not, a given result was. Fortunately my sweat test was very remarkable.

As a child, I had athletes foot from hell. Using NP27 my bare toes were squirted three times a day with this mostly alcohol topical funguside. My toes were split so far back, spreading two toes revealed my foot bones. When I first started driving, if I borrowed my father's car, I had to remember to wipe down the steering wheel or do it at 6am before my father would touch the wheel. I still get salt packed under my watch and any watch band rots off or metal bands etch through in a few months.

Any of this sound familiar?

 

[Beccamom]

LittleLab4CF thanks for your info my daughter's hands are so dry and cracked that they burn from almost all lotions. Although her sweat test is really low she had a positive nasal potential difference test and then a negative nasal potential difference test by 1%. She sweats so muchy and hitting puberty we are having a difficult time finding deoderant that works. Could her sweat test be diluted?

Thanks for any feedback
Jen

 

[LittleLab4CF]

Beccamom,
The short answer is yes. Over the years I have become phobic over salt. When I down a sports drink, how much I drink is self limiting. Tooo much or too fast and up it comes. My heart goes out to Becca. At a time when holding hands with a special friend becomes more problematic, not romantic, just adds to her fight for a normal life. Petroleum jelly (PJ) and cotton gloves at night saved me. See how she responds. Gloves are not essential, but sweat seems to permeate the PJ and wicks away the moisture, cooling the hands. It is possible she has "athletes hand". Applying Tinnactin or other athletes foot/jock itch cream in place or with the PJ and cotton gloves is worth a try. I speak from experience, I cleared up my lobster hands by first using a thin layer of PJ and gloves. Then when my parents added topical fungicide in a month I was thrilled with the results. I don't know what value you would obtain in repeating her sweat test. These days before I submit to a test etc. I ask if anything actionable can result from the test. Unless she is instructed otherwise make sure she is well hydrated preferably with a good sports drink to be sure she has salt to sweat. Sometimes actionable results, especially for a parent is information. I hope this is helpful. BTW I have always used a Mennen deoderant Speed Stick. In hot, humid business environments, occasionally I use an antiperperant/deoderant. Sometimes I use Secret, otherwise a Mennen antipersperant/deoderant. For what that is worth. A man doesn't often admit to using Secret, but the roll on keeps me dry and...