New here. No diagnosis. Questions about testing.

[Stacey James]

Hi. I know that you all, unfortunately, have a lot of experience and knowledge about CF so I hope you don't mind me crashing your party.

My son just turned 18 yrs old. A while ago, he brought this white bubbly rash on his palms to my attention. You know where I'm going with this. I did some googling and brought him to the dermatologist. He immediately confirmed my amateur diagnosis of Aquagenic Wrinkling of the Palms. My son said that they really start to hurt after his shower and the skin just falls off. The doctor prescribed some Aluminum Chloride solution to apply to his palms but my son never uses it. He has high functioning Autism which throws another wrench into all of this!

The dermatologist didn't seem alarmed but said he would refer us for a genetic consultation at Yale if I wanted to go that route. I definitely want to get this checked out. Naturally, I'm a bit worried. I don't think my son was tested at birth and neither my husband or I have ever been tested. No family history that we are aware of -- but my husband has never met his father or anyone on the paternal side of his family.

Do you know what the odds are that this is linked to CF? Is it likely to be just a fluke? Am I doing the right thing by pursuing this? Also, please inform me as to what sort of testing I should be sure to have done.

Best to all of you -- and thanks!
Stacey​

p.s. First, I posted this in the "Families" section but thought this might be a more appropriate section. Sorry!

 

[Printer]

Stacey:

I'm 75 and I have CF. There are people older than I, with CF. As you know CF if a genetic disease. If your son tests positive it will be because he has had this disease for 18 years. Nothing will change with a Dx except he will be getting the necessary treatment.

I understand that you are scared but try to relax.

Bill

 

[jaimers]

Worth getting him tested if the doctor will refer you. I wasn't able to find any other conditions that are associated with the aquagenic wrinkling other than excessive sweating which you would probably have discovered by this point. There are a couple others on here that are parents with CF kids that are also on the spectrum. If your son is diagnosed with CF they could be a great resource for you. Has he experienced any other CF symptoms? Good luck!

 

[Stacey James]

Worth getting him tested if the doctor will refer you. I wasn't able to find any other conditions that are associated with the aquagenic wrinkling other than excessive sweating which you would probably have discovered by this point. There are a couple others on here that are parents with CF kids that are also on the spectrum. If your son is diagnosed with CF they could be a great resource for you. Has he experienced any other CF symptoms? Good luck!

Thank you, both, for your feedback.

Yeah, I would not say that he has excessive sweating, at all. Of course, now I'm looking for symptoms that have gone unnoticed. He has always had a lot of sinus infections and spends most months constantly blowing his nose. He is always extremely tired -- can't stay awake (don't know if this is a symptom or not?) Coincidentally, he just had blood work done for the first time -- it was fine except for high triglycerides and low vitamin D. Recently, his fingernail beds have started turning dark blue when his hands are cold? Have never seen that before.

 

[Aboveallislove]

I would strongly recommend testing as well. Make sure you get a referral to an accredited cf center for a sweat test and a cf pulmonologist for an appointment. Hopefully they can do both at the same time. If the sweat test is borderline or negative, given the symptoms I'd recommend asking for a full gene sequencing. Maybe have them both tested at once I f possible or you could see what genetics are for so n and go from there. I do though want to say that as printer said if the t I s cf he has always had and he will just get proper treatment now. aND if it wasn't s cf given he hasn't had digest Very issues he likely has a less severe mutation and there is a medicine that helps f X those types of mutations so they function much better. Hang in there and please do update. Hugs and prayers
Love

 

[Stacey James]

I would strongly recommend testing as well. Make sure you get a referral to an accredited cf center for a sweat test and a cf pulmonologist for an appointment. Hopefully they can do both at the same time. If the sweat test is borderline or negative, given the symptoms I'd recommend asking for a full gene sequencing. Maybe have them both tested at once I f possible or you could see what genetics are for so n and go from there. I do though want to say that as printer said if the t I s cf he has always had and he will just get proper treatment now. aND if it wasn't s cf given he hasn't had digest Very issues he likely has a less severe mutation and there is a medicine that helps f X those types of mutations so they function much better. Hang in there and please do update. Hugs and prayers
Love

Okay, thanks for your response. I looked at CFF.org (as I saw on one of these boards) for a CF care center and I was glad to see that Yale is listed. That is where our doctor is sending us. He has already sent in all of the necessary paperwork and I finally got a call back from Yale Genetics today -- of course, I missed the call and can never reach a human there. I'll wait some more, I guess.

 

[Simba15]

sent you a PM

Hi. I know that you all, unfortunately, have a lot of experience and knowledge about CF so I hope you don't mind me crashing your party.

My son just turned 18 yrs old. A while ago, he brought this white bubbly rash on his palms to my attention. You know where I'm going with this. I did some googling and brought him to the dermatologist. He immediately confirmed my amateur diagnosis of Aquagenic Wrinkling of the Palms. My son said that they really start to hurt after his shower and the skin just falls off. The doctor prescribed some Aluminum Chloride solution to apply to his palms but my son never uses it. He has high functioning Autism which throws another wrench into all of this!

The dermatologist didn't seem alarmed but said he would refer us for a genetic consultation at Yale if I wanted to go that route. I definitely want to get this checked out. Naturally, I'm a bit worried. I don't think my son was tested at birth and neither my husband or I have ever been tested. No family history that we are aware of -- but my husband has never met his father or anyone on the paternal side of his family.

Do you know what the odds are that this is linked to CF? Is it likely to be just a fluke? Am I doing the right thing by pursuing this? Also, please inform me as to what sort of testing I should be sure to have done.

Best to all of you -- and thanks!
Stacey​

p.s. First, I posted this in the "Families" section but thought this might be a more appropriate section. Sorry!

 

[fel]

Just wanted to say that my son was dxed at age 17 with CF. He also had autism. We missed a lot of the symptoms because they were attributed to the autism or were considered behavioral. For example, he coughed for two years, but the doctors first said it was allergies. When he tested negative for all allergies they had a GI doctor test him for reflux. When reflux medicine for over a year resulted in no reduction in coughing they said it was a "tic". He never would have been found to have CF if it weren't for his brother coming up positive for CF on a sweat chloride test. He also was frequently tired and had more severe behavior problems (like laying on the floor at school and refusing to do work) any time he felt a little sick. I wish we had realized how sick he was...

Now it is very clear he has CF. Luckily nebs + vest seems to keep him stable.

I also wanted to mention that the blue fingernails may be Raynaud's disease. I have this, as does one of my sons. It is an unrelated genetic condition. I find taking iron pills helps somewhat, but then I am additionally anemic. The other thing that works is to never let hands and feet get too cold -- wear mittens rather than gloves and wool socks or shearling boots.

Your son may not have CF -- the symptoms don't sound definitive for that to me. He may just have Raynaud's and easily wrinkled skin... that condition is not always associated with CF as I think sometimes it can be induced by medications or unknown causes.

I would suggest you do the sweat chloride test first, and if that comes up positive or borderline look into genetic testing. You may think genetic testing has the answers, but in our case it just gave us more questions (and our whole family had full genomic sequencing).

Good luck in your quest for answers.

Fel
--one son with CF, one son CRMS, me (?CRMS)

 

[Stacey James]

Thank you all. Finally spoke with Yale Genetics and they told me that our doctor has to order the bloodwork and if that shows anything, then they will do further testing. Still have not heard back from the dermatologist. However, since we are going away for a week, I'm taking my son to the ped. today as he has had this lingering productive cough for a while now. He says that he tries not to talk or he will cough. Maybe post-nasal drip? Needless to say, I will ask about it while I'm there.

 

[mom24dodd]

Does not sound like other CF symptoms - but to be sure - get a sweat test. I think your regular pediatrician can order that. My son - 10 - also has CF and autism - dx at birth through screening. No history in our family either as far as we know. I thought I was alone in the world. If you need to... you can speak to me directly. I don't know really how to do that on this medium but will find out.

 

[Aboveallislove]

Does not sound like other CF symptoms - but to be sure - get a sweat test. I think your regular pediatrician can order that. My son - 10 - also has CF and autism - dx at birth through screening. No history in our family either as far as we know. I thought I was alone in the world. If you need to... you can speak to me directly. I don't know really how to do that on this medium but will find out.

if you click on a persons "name" on the left hand side you will see an option for send a private message. That is a private email hosted here. A visitors message is public and for those who aren't members to send a note so if you want it not showing up for others make sure to do a private message and not a visitors one.

 

[Stacey James]

So, I took my son to the pediatrician yesterday since we are going out of town for a week and I wanted to check on his cough that has been lingering for quite a while now. My son says that he doesn't talk at work because it will send him into a coughing fit. Anyway, saw a new ped. at the practice. He said that my son has almost-bronchitis --some upper and lower respiratory ... something or other. Prescribed a Z-pack. I showed him my son's palms and told him about that diagnosis. He had never heard of the Aquagenic Wrinkling, of course. I explained that, historically, there has been a proven correlation between that and CF. The ped. told me that "it's too late" for my son to have CF. ??? I added that I've been seeing quite a few cases of adults who weren't diagnosed until they were much older than my son. He said that those people have been very sick their entire lives, though. He certainly was not going to order a sweat test. Aaargh.

 

[Aboveallislove]

So, I took my son to the pediatrician yesterday since we are going out of town for a week and I wanted to check on his cough that has been lingering for quite a while now. My son says that he doesn't talk at work because it will send him into a coughing fit. Anyway, saw a new ped. at the practice. He said that my son has almost-bronchitis --some upper and lower respiratory ... something or other. Prescribed a Z-pack. I showed him my son's palms and told him about that diagnosis. He had never heard of the Aquagenic Wrinkling, of course. I explained that, historically, there has been a proven correlation between that and CF. The ped. told me that "it's too late" for my son to have CF. ??? I added that I've been seeing quite a few cases of adults who weren't diagnosed until they were much older than my son. He said that those people have been very sick their entire lives, though. He certainly was not going to order a sweat test. Aaargh.

stacye,
i am so sorry. Your ped does not know what he is talking about. Many doctors think of cf in antiquinted terms. Your son might not have cf but there is enough to warrant a test. It sounds like the other doctor was willing to refer. If you can't get one if search out a new ped and pull some research showing late Diagnosis. I'd also suggest if they didn't running a culture to see if he is growing any cf bugs which need a special antibiotic.

 

[Printer]

Stacey:

The world is full of Doctors who can't spell CF, much less dx it. I was dx at age 47. Your Doctor could have made a call to any CF Center before spewing such foolishness. Get a new Ped ASAP.

Bill

 

[ethan508]

My older brother probably would have made it to teenager undiagnosed if I hadn't come along with more severe digestive symptoms.

Whether your son has CF or not, it might be appropriate to politely instruct you pediatrician to bone up on his understanding of CF (it sounds like you tried). If he is looking at any source pre-2005, he is out of date. It might not help you or your family, but could be advantageous for a future patient.

Even recently published sources sometimes aren't very good because they reference older material. My wife studied rehabilitation counseling in college (circa 2005) and found some of the information about CF folks quite dated. Also not every CF person is a textbook case as can be seen by the diversity on this site. Her experience with me and my brothers with the disease was entirely different than the picture painted by the literature.

 

[JustaCFmom]

Stacey:

The world is full of Doctors who can't spell CF, much less dx it. I was dx at age 47. Your Doctor could have made a call to any CF Center before spewing such foolishness. Get a new Ped ASAP.

Bill

Too true!!

Our family doctor was totally amazed when my kids got their diagnosis. They would have had much more lung damage if not for a cluey pulmonologist (who ran the CF clinic at a near by hospital). He sent my daughter for further tests (vs. my adult son who went to a lung doctor who saw nothing wrong)

Getting a sputum culture is relatively cheap and might reveal some unwanted guests in the lungs. If that is the case, there is more to argue about further testing.

The best is to find a doctor who can be compassionate, and put your mind at ease by letting your son get the testing that would help clarify what is or is not going on.

Good luck!!

PS. My daughter was 15 when she got diagnosed and her big brother was 20 at the time. He was not going to be getting any kind of diagnosis any time soon. He had gotten into running and other great exercise, and his cough was very discrete.