question about sweat test results

[Martina Banks]

Hello everyone, my 11 week old daughter was recently diagnosed with c.f. and I had a question about the sweat test.
First a little background - at 2 1/2 weeks old our ped gave us the news that our daughter's prenatal screening had found she had 2 gene mutations (the d508 one and another that only one other person has ever been diagnosed with 1331n). They then made us wait til she was 12 pounds to get the sweat test. So earlier this week we had the test done and her levels were at 102, which the doctor said was very high and definitely positive. He said that the levels don't necessarily determine how severe a person's symptoms may be, but it still scares me.
Right now she is mostly doing fine except she isn't gaining weight as much as she was at first (she's still gaining the normal amount per day, though now just barely). She's also extremely gassy and uncomfortable and spits up a lot. The doctor has prescribed her aquadeks, vit d (which she was already on because I breastfeed), creon, zantac, and 1/8th tsp of salt.
Anyways back to my original question - for those of you living with c.f. have you noticed any correlation between very high sweat chloride levels and severity of symptoms? Thanks for taking the time to read this, I know it's a long post. I'm just very scared for my daughter and trying to cope with the news

 

[Rebjane]

First of all, It's great your daughter is doing well! I breastfed my daughter with CF too, so if you have any questions I hope I could help. M daughter is now 12.

About the sweat test, I don't know about the high sweat test and correlation with severity. There are so many factors that go into the well-being of a CF child; environment, parental involvement, compliance, economics. So, don't stress too much about the actual # in my opinion. No one can predict what will happen. I can say my daughter has two very typical "severe" CF mutations. She has had her share of issues with CF however, presently she is generally well, she is in 7th grade actually (reading at an 11th grade level). She is on the school soccer team. She is actually out at a school function right now. Course she has to do a bunch of treatments when she gets home and do her VEST. But she is happy and has friends.

The treatments out for CF are a moving train and there will be more advancements that your daughter will be able to take advantage of. So there is ALOT to be hopeful for. The goal is to keep your daughter as healthy as possible so she will get to take these new treatments. It's so hard not to worry, believe I know. Ask lots of questions, we are here for you.

 

[Martina Banks]

Thanks for your response that makes me feel a little better knowing that she still has a chance to be happy like your daughter. That's one of the things that worries me most after finding out this news. I know that the average lifespan is 40 years and that is a lot of time for them to make progress toward a possible cure or better treatments. I just worry that in the meantime the c.f. will consume so much of her life/time that she won't be able to be happy. Hearing that your daughter is able to be happy and live a somewhat "normal" life gives me hope. Thank you
- Martina

 

[Aboveallislove]

Dear Martina,
I am so sorry to hear of your daughter's diagnosis. We learned of our son's diagnosis when he was a couple weeks old and I still painfully remember those early days. And our son's sweat test was 133, so I KNOW exactly the worries because it was so high. I specifically asked the doctor if that meant he would have more severe CF. He has dd508 so I knew it was severe mutations already. The doctor said the sweat test did not correlate to "outcome" but I had a hard time believing it because logically the high it is the less the genes must work. Well, our son turned 6 in June. He has never had a cold, flu, ear or sinus infection or a lung exacerbation. He does have horrible GI issues, although we have those in check for about 1 year with just a couple issues. And he does have horrible aquagentic wrinkling, but so far his lungs and sinus' have minimal involvement. So even with the 133 which is off the charts in my mind, he has "mild CF" per the doctor. So don't take the number as a sentence.
Also, by the time your daughter is six they will likely have to market a drug that can get her cftr function to about 50%, which might sound still very low, but those who have it to 50% function have had amazing responses. And it could be higher depending on what her second mutation is. Do you know the class mutation?

I am truly sorry. And I do know exactly what you are feeling. Oh, how I wish I could take that away. We never do get back the joy of early days. Oh, and DS is the happiest little guy. His uncle (who is a teacher) has commented before that he has never met a happier kid!!
Hugs and prayers,
Love

 

[Martina Banks]

I'm not sure what class the second mutation is. All that we were told was that it's only been found in one other person, a 27 year old male with very mild symptoms. Apparently the only thing he had was swollen feet.
I'm glad to hear your son has no lung problems and glad his gi problems are under control now.
It is hard. On one hand I'm happy she was diagnosed young so that we can start treating her and managing her symptoms, in the other hand we went from the most joyous time in our lives (she is our first child) to absolute fear and worry. I'm trying my best to not let the diagnosis make me completely heartbroken, because right now I have an absolutely precious baby who seems perfectly happy and I try and enjoy her smiles, but at the same time every time I see her smile I want to cry because I just love her so much and don't want her to suffer and when I picture her future all I can see is the pain that she's going to experience that no child should have to deal with

 

[Aboveallislove]

oh sweetheart, I know. I know. The pain will always be there and the worry, but it gets better. You get in a routine and what now seems so hard to do is second nature. DS was telling his new stuffed animal who was "talking" why he does his vest and all his medicines. He says it so "normally." It's all he knows. And God willing these drugs will be out and work so that he won't have to know much else. Big momma hug.

 

[ethan508]

I too am sorry that you have to deal with CF. Please ask all the questions you need to, both on this forum and of your doctors.

My personal anecdote is that my sweat test was just a little bit over 100 and I've faired well over the years. I've been able to live a life that is full of normal and full of happiness. For example I went hunting/horse back riding this week with my Dad, Uncle, and Brothers. Sitting in the camper after a long day (like 13 hours on the mountain) I plugged my vest and nebulizer into the generator and sat around listening to the family chatting and joking. After getting done, my brother was getting his machines out for a his turn, and my Dad asked what he was doing and then stated 'oh yeah, I forgot for a minute that I had 3 sons with CF'. Sometimes CF takes up a lot of time and effort but a lot of other times, your kid will just be out doing an activity and will just be your kid (not your kid w/CF).

 

[Martina Banks]

Thank you guys for your caring words and sharing your stories. I'm going to try my best to stay positive and put on a brave face for my daughter's sake. I will always be there for her and love her with all my heart. I can already tell she's strong and she's going to be a fighter!

 

[Printer]

I am a 75 year old male with CF. I played college varsity basketball (not well but I played), I was a Lifeguard on an Atlantic Ocean Beach (owned and controlled by the Commonwealth of Massachusetts)for 5 years. I have college degrees. I have been married for 53 years. At the CF Clinic that I attend, there is a woman only 3 months younger than I am.

Like your DD, I have Delta F508 and a milder/rare mutation, one recently discovered in Northern Ireland. It has been reported that only 7 families have this mutation.

Now, you may absolutely "love" your child's Doctor but it is critical that you go to an Approved Cystic Fibrosis Clinic and have her seen by a CF Specialist. You should continue to have her see her peed for everything but CF. If you need help finding a CF Specialist, tell us the name of the largest city that you live near and we will name the center.

Bill

 

[Martina Banks]

She is being seen at an approved c.f. clinic here in Sacramento, and her doctor is the head of the department, so I believe she is in good hands. She also sees her regular ped for vaccines and other things.
I'm glad to hear you have lived a long, full life. I hope my daughter will be as lucky as you

 

[Printer]

It sounds like you are doing everything properly for your DD. Given everything that is going on in the CF World, she will live a long and happy life.

Bill