Maybe CF, Maybe not?

[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...

 

[WildCherry]

I don't know. I'm just so incredibly confused by it all. Everyone has different opinions and suggestions all which are greatly appreciated but just make my head spin. I'm guessing this is why the doc told me to not read the boards at this point. Oh well...at least people are here if I need them.

ChrisDopher - my baby doesn't show any signs of failure to thrive. He also shows no lung problems as of yet either. This is why we haven't started any treatments. The doctor is really concerned about making a diagnosis that shouldn't be and what he says makes sense but I just wish there were more conclusive tests. I feel like if there is something wrong, even if the disease isn't manifesting itself yet through symptoms, there should be a way to test for it aside from this genetics stuff and this sweat testing. So frustrating.

Thank you all for replying.

 

[Printer]

If wishes were horses, beggers would ride.

We all want more tests and treatments. Unfortunally we have to take like as it comes and deal with it that way.

Bill

 

[natedogg]

Hello there, we are dealing witht he same ???. My son was actually diagnosed with having CF in 2003 after 3 positive sweat tests, he was put on all the medications needed for a child with CF...at the time my son was about a year and a half. After a long year of learning to cope with something we had never heard of, the doctors looked in his charts and noticed that there was something lacking in his bloodwork to support CF. At that point we were sent to Sick Kids in toronto to have some more sweat tests and blood tests done. His sweat test numbers were still kind of high, but not high enough.
After these tests were done, it was concluded that he might just have a very MILD form of CF....so we were then left with a bunch of question marks, because the first doctor who diagnosed him in London just left us alone....no one contacted us until we made an appointment and he didn't understand why we were there.
He is now 10 years old and has no health issues, but we took him back tot he CF clinic recently to have him resweat tested in 2011, and his test is still sitting in the grey zone.
We have been living with this question mark hanging over our heads, just reaching out

Nicole

 

[Printer]

Nicole:

Alot has happened in the CF world in the past 8 years. If you are still in Toronto, I would go back to Sick Kids and see a CF Specialist (not all Doctors at Sick Kids are CF Specialists) and ask them to do a FULL CF SEQUENCING.

While I showed some symptoms as a child, my first episode was when I was 17 and the second was when I was 21. By the time I was dx at age 47, serious, irrepairable damage had been done.

You would be wise to ger a proper dx.

Bill

Bill

 

[natedogg]

will they do a fill CF sequencing if I request it?? I would really just like some conclusive answers just in case there is something we can do for him while he is still young.

 

[Mills7]

WildCherry

I too am more or less a lurker but I wanted to share our experience. My son was dx at birth from the newborn screening. DeltaF508 and R117H. He had 3 sweat test done, all coming back 30 (borderline) at St Chris (also has a CF cert center). He was treated with meds for resp and followed every month until he was a year, every other month until he was 3, and every 4 months since. Every year we get an xray and labs done. He never showed any signs that he had CF, but we just keep trucking along with meds and treatments. At one point his doc was going to give him the CFTR related dx but we fought to keep the CF dx because she was going to treat him the same and I didn't want insurance to get messed up (he's on MA). Well within the past year he has gotten pseudomonas and his most recent xray showed lung damage in his small airways.
I would keep with your docs plan and go from there. Best of luck!

 

[Rita Tyeptanar]

I know a lot of this thread is pretty old but I am new to this site and it is interesting because I am in the same boat right now with my son. He is a 10 week old twin and his newborn screen came back showing the DDF508 mutation so we went ahead and did the sweat test and it came back at 55 which I was told is borderline so we did some genetic testing but were not informed about the full gene sequencing so they only tested I think 97 mutations and it came back still only showing the DDF508 mutation. He is very healthy still with no infections yet and his twin sister doesnt have the mutation at all. His skin does still taste very salty so we do go back for another sweat test on Wednesday next week but they said itll probably stay in the 50 possibly even go into 60 and said they are most likely going to diagnose him with a mild CF.. I am still very confused with all of this and can't seem to think that he has it since he is so healthy and gaining weight like a champ. I do agree tho that being proactive is important with this disease and I am all for it esp since I am a respiratory therapist and have seen a ton of CF patients where I work at the Childrens hospital but I am just so confused right now with all this borderline stuff with my son.

 

[Beccamom]

Thanks for the response just an update the house heat is off and our humid Spring has begun. This is great news for her hands.

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...

 

[Beccamom]

Is your son DDF508. I thought DD meant 2 F508 genes which means CF. Or does your son have 1 gene with the DeltaF508 genetic mutation? Regardless of his next sweat test I would request Ambry full sequencing including deletions and duplications. Don't accept another company if any way possible. My daughter who remains in diagnostic limbo had Quest full testing, my other child and I had Ambry. Her results regarding polymorphisms do not match my results so I know her results are not accurate.

There are many adults on this site living long healthy and active lives. I wish my wanting my daughter to not have CF so much when she was tested at ages 1 and 4 didn't cause me to drop the idea. Her lung function FEV1 went down to 50% with asthma treatment. After 2 years of CF treatment ( mucus clearance vest, hypertonic saline nebs, and antibiotics based on sputum culture) her FEV1 remains 90 to 100% in 7 PFT tests. She went from failure to thrive never reaching the growth chart height or weight to a solid 20%tile height and weight and a healthy BMi. I am so thankful her a new pulmonologist at age 11 who thought outside the box and retested CF and probably saved her life. For that matter he saved my life because I was subsequently tested, diagnosed with, and treated for CF.


The testing process is scary, but the result of the correct treatment can be a very healthy child compared to no treatment. Best wishes. We are here to listen.

 

[WildCherry]

I know a lot of this thread is pretty old but I am new to this site and it is interesting because I am in the same boat right now with my son. He is a 10 week old twin and his newborn screen came back showing the DDF508 mutation so we went ahead and did the sweat test and it came back at 55 which I was told is borderline so we did some genetic testing but were not informed about the full gene sequencing so they only tested I think 97 mutations and it came back still only showing the DDF508 mutation. He is very healthy still with no infections yet and his twin sister doesnt have the mutation at all. His skin does still taste very salty so we do go back for another sweat test on Wednesday next week but they said itll probably stay in the 50 possibly even go into 60 and said they are most likely going to diagnose him with a mild CF.. I am still very confused with all of this and can't seem to think that he has it since he is so healthy and gaining weight like a champ. I do agree tho that being proactive is important with this disease and I am all for it esp since I am a respiratory therapist and have seen a ton of CF patients where I work at the Childrens hospital but I am just so confused right now with all this borderline stuff with my son.

Hi Rita,

It seems like a lifetime ago that I started this thread. I'm going to assume you mean only one copy of DF508. We were told our sons repeat sweat test would probably remain the same however it dropped well into the normal range to 15 at 6 months of age. I would push for the full sequence though so you can be sure that he in fact has two mutations. If he ends up with one mutation and another borderline sweat they would probably lean toward a CRMS diagnosis I would think which is where we thought we were headed. After my sons repeat sweat test at 6 months old came back normal they are just monitoring him twice a year but we have no diagnosis of either CF or CRMS.

 

[Printer]

There is nothing borderline with a result of DOUBLE DELTA F508. It means that he has two mutations, each being Delta F508. He has Cystic Fibrosis.

Bill