daughter diagnosed yesterday...need guidance

[lucylu712]

My 4 year old had the sweat test yesterday and was positive for cf. At this point she has no respiratory symptoms, just GI. She has had steatorrhea (fatty stools) intermittently for over a year, and that is what
prompted the sweat test. We will go to the cf center next week. I am really afraid because I don't know
what to expect from this point. Please help! Lucy

 

[anonymous]

I know that this is a scary time for you and your family but you will get through it. My daughter was diagnosed at 8 weeks with the same problems. She is now 5 years old and still not showing any difficulty with her respiratory issues. She is doing very well, and most patients do these days. Research has come a long way and it is not the scary disease it used to be. Be careful what you read on the internet.
When you first meet your CF team they will explain the medications and the chest therapy that you will need to do daily. Make it fun for your daughter by reading, watching TV, singing etc while doing therapy. She will be fine. It is ok to be sad and you need to allow yourself to do that. It was about a year before our family was comfortable with everything and the sadness disappeared, but it may take more/less time for your family.
Follow dr's recommendations, come to this site often for support, and be honest with your child so they don't feel like they have done anything wrong.
Write again after you have met your CF team and let us know how things went.

Love my girl (forgot to sign in again)

 

[anonymous]

I know that this is a scary time for you and your family but you will get through it. My daughter was diagnosed at 8 weeks with the same problems. She is now 5 years old and still not showing any difficulty with her respiratory issues. She is doing very well, and most patients do these days. Research has come a long way and it is not the scary disease it used to be. Be careful what you read on the internet.
When you first meet your CF team they will explain the medications and the chest therapy that you will need to do daily. Make it fun for your daughter by reading, watching TV, singing etc while doing therapy. She will be fine. It is ok to be sad and you need to allow yourself to do that. It was about a year before our family was comfortable with everything and the sadness disappeared, but it may take more/less time for your family.
Follow dr's recommendations, come to this site often for support, and be honest with your child so they don't feel like they have done anything wrong.
Write again after you have met your CF team and let us know how things went.

Love my girl (forgot to sign in again)

 

[EmilysMom]

You have come to the right place for support. My daughter was diagnosed when she was two days old (that was almost 22 years ago). She needed surgery to clear a bowel blockage) She has had problems over the years, but really in just the last couple of years, has CF started to really affect her life. She had to drop out of school this semster and is changing schools and living at home now, but other things are good for her. She has a wonderful boyfriend/future fiancee, her room is being remodeled currently which she is excited about, she is looking forward to her new college.
This is the site to come to for questions, to vent, to scream, or just to chat with other CF families. No question is stupid or too personal.....someone will respond to just about everything and you will make a lot of new CF friends. Welcome!

 

[lflatford]

Hi there,
Boy, I remember how it felt when my daughter was first diagnosed. Well, the good thing is that CF is so much easier to deal with today than it was many years ago. Every couple of years the life expectancy goes up and more medicines are introduced to help them stay healthy. Please know there are people on this site who understand how you are feeling and are here for you if you need us. Take care and let us know how your visit with the CF doctor goes.

 

[anonymous]

I know how you feel. My 8 year old daughter was diagnosed at the end of August. I don't think I slept from the time I found out the diagnosis until we had our appointment at the CF center. I remember feeling like it was the end of the world, or wishing it was the end of the world atleast! But after having the appointment and starting her on treatments I am doing much better. Hang in there, and try to take it a day at a time.

 

[imondeck]

My son had 3 sweat tests - 2 were positive (65 cl and 77 cl) 1 was borderline (50) all done at an accredited hospital. His pulmo. did several other tests (fat fecal, throat culture, pft's, chest xray) all of those are normal. His ct scan of his sinuses came back with mild changes (he has an infection right now and is battling a cold). He is 11 and weighs 55 lbs, eats normally. Genzyme found no mutations, Ambry found no known mutations. He is in limbo. We don't know what to think.

Lucy, was your child diagnosed with just a sweat test only?

 

[lucylu712]

So far she has only been diagnosed by the sweat test. Her levels were 106 and 107, which is criteria for
a diagnosis. We already have an appointment with a pediatric gastroenterologist and the pulmonologist
at a cf center in charlotte, nc.

Does anyone know of any good sites on research/clinical trials with gene therapy or stem cell involvement? Has anyone been involved in any such study on this board?
Thank you....Lucy

 

[js7881]

Welcome to the family. Everything will be fine. It is a very hard thing to deal with at first. I found out when I was 5 months pregnant and yet when I had Alayna it was still very hard to deal with. Now it's almost seems normal to us. Best of luck to you and your family.

 

[anonymous]

Sandra,

After reading your post I searched "sweat chloride test" and found this:


Can the sweat chloride be high and the child not have CF?

There are a few rare conditions which produce a false positive sweat chloride test. Such situations include diseases of the adrenal, thyroid, or pituitary glands, rare lipid storage diseases, and infection of the pancreas. Generally, however, these children are easily differentiated from patients with CF by their clinical condition and molecular tests for CF can be done to clarify the diagnosis.


Hope it helps, unfortunately sometimes you have to do the searching for the doctors.

Maria (mom to three daughters, the youngest Samantha w/cf)

 

[anonymous]

Welcome!
My daughter who will be 13 in Dec. was diagnosed at 1 year 5 days, and my son who is 14 was diagnosed at 3 1/2 years. I remember being horrified when she was diagnosed and really numb when he was. It has been somewhat of a rocky road with her. It is night and day difference w/ their diagnosis. I am new here and wish I would have joined along time ago to have had their support. I still do not post very often however I read alot and it is very helpful. Best wishes! Cfmama (Julie)

 

[JazzysMom]

First thing to remember is that although we all have CF in common, it can & often affects us differently meaning different degrees or different tolerances of meds etc. There will be a lot of information thrown at you & you might explode by trying to obtain too much too fast. Such as the info on gene therapy & stem cell research.....these are still fairly new territorities. I suggest you deal with what your child will be dealing with immediately & as you can handle it take on additional info. The information you take in now can make a big difference later. I am by no means suggesting that you sit idle & wait for things to come to you. Quite often on this forum we have people who do a lot of research & then share it with the rest of us. I just dont want you to get MORE overwhelmed than you already are. On a happy note, welcome to the board. I am proud to say that I am one of the old fogies here. Not as old as some, but definitely older than others. Might I also suggest that as you have ???, you write it down in some type of journal so as it gets asked or addressed you can put the ?? & response together. It would make it easier to remember & obsorb..............................

 

[imondeck]

Maria, thanks for the info. I have been researching and asking questions since July (when my son started to show salt crystals in his eyebrows/forehead). He is scheduled in Dec. to see an endo (my suggestion to his pulmo). My concern is that I keep seeing other parents saying their child is diagnosed by the sweat test alone and being seen at a CF center. Our doctor hasn't clearly diagnosed our son and he isn't on any meds except for amox. for sinusitis 20days (and nasonex). We havent' been given any information - I have researched it all myself on the net and in bb boards.

Just wondering if I should contact our local CF center or trust our pulmo.? I feel like we are in such a limbo - and all the waiting on different tests has definately taken it's toll on my nerves. Not knowing exactly what is wrong with his health is very trying on the mind. He goes back to his pulmo at the end of Nov.

I guess it is just wait.....

 

[julie]

Sandra, I dont' want to disrespect your doctor but this clearly doesn't seem like his avenue of knowledge. I would immediately search the CFF (www.cff.org) for an accredited CF center in your area and have them do a blood test through Quest Diagnostics. Some people are diagnosed via a sweat test, but then a blood test finds NO mutations. This happens because new mutations are discovered frequently, and the tests do their best to keep up. Just a decade ago, only about 10 mutations were known and could be identified, now there are over 1,000 and more discovered every day. It may very well be that your child has a rare set of mutations that haven't been identified yet. It is also somewhat common for people to have negative sweat tests and then have 2 mutations identified in a blood test-CF is a very difficult thing to diagnose sometimes. It use to be thought it was clear cut, failed sweat test=no CF, this is NOT true though, as I am sure that you know. It is VERY important that your child get prophalactic care until you have have a crystal clear YES or NO diagnosis which may take some time. It is muc better to treat and then find out there is NO CF than to give no treatment and then find out in a year or two that the child DOES have CF and there has been no treatment. Your doctor is acutally jeporadizing your child's health and their life by dragging his feet around the issue and treatments.

 

[lucylu712]

Update: Today I had to take Lauren for another sweat test at a different facility ( the CF clinic requested this before her appt.) and the results were higher than the innitial test last week. Last week they were 106 and 107, I believe. Today I was told they were in the 120's. Her skin does taste very salty, and I cannot believe I had never recognized this before. Lucy

 

[anonymous]

Hey Lucy,

I'm sorry to hear about your daugther. My daughter was diagnosed last year. She is now 4 yrs old and doing well. She's never had any lung issues until last month when she cultured pseudomonas. I wanted to ask you where you live. You mentioned going to the CF center in Charlotte. My daughter goes to the Cf center at UNC in Chapel Hill and we are very happy there. You can email me if you have any questions or if you just want to chat. amyplymale@earthlink.net

Amy
mom to Allie w/Cf and Betsy w/out

 

[sarfen]

well be glad that they found out sooner i was 3 when my parents found out and i was starving to death and my lungs sustained damage so thank God that u found out sooner cuz it coulda been a lot worse

 

[LoveShines4Austin]

Lucy *hugs*

Reading your post rocketed me back to the day I was told that Austin may have CF. When Dr. Busby said he wanted him tested for CF, I had no idea what the disease was. I went home that afternoon and called my mom. I told her what the doctor had said and that the test was the next day.

By the time I got home that night, my mom had driven the 6 hours to my home, to tell me horror stories about CF! She worked in a hospital and must have gotten a hold of an outdated medical book because she was scaring me to death! She told me he would die when he was 7 years old! He was only 3 at the time. Ugh! Every case of CF is different and you can never expect that the same things will happen to your child.

When I took him to the lab the next day, the lab tech said, "Don't worry, Dr. Busby orders a lot of these and they are always negative." He was, of course, wrong in our case. We had the sweat test done for the second time on our initial visit to U.C.D.M.C. and the results were even higher than the first. So I know how you feel...I truly do.

Austin was such a trooper and that very day, after his visit, I took him to the hospital cafeteria. I was so afraid that he would not swallow his enzymes! His shocked me when he took a pill and put it in some frozen yogurt and swallowed it right down. They were the MT 4 size and he now takes the MT 20. He can toss 6 in his mouth and swallow them all at once. It's second nature now.

Anyway...I'm glad you found this forum. Hang in there and email me if you need to chat - laurel.warkentin@gmail.com

 

[izemmom]

Hi! My daughter was born on Nov. 2 and diagnosed one week later. She had meconium ileus, which was resolved without surgery, thank God! We finally started her on enzymes and breast milk yesterday (11/11). We were (still are, a bit) devesated when they first mentioned CF. We really had very little knowledge of what it was. I have no advice, but I'm glad to have found this site, especially since so many peopole seem to be sayint that thier children are living relatively normal lives into thier teens. Good Luck!

 

[anonymous]

Izemmom.. I just read your post and wanted to say I am glad you found this forum. Their are so many other ppl that are better qualified to speak to you about a newborn being dx. I just wanted to address the part about living to your teens.. I am 33 w/ CF and doing just fine. I know many ppl in their 30s and 40 and some in their 50s who are doing okay as well..

It is very hard to gauge how your childs CF will be because we are all different. I just wanted to encourage you that when I was born the average life span of a child with CF was 7, then it went up to 18, and then it kept creeping up there.. Your child has a chance at living a very good and productive live, maybe even living a full life... if the statistics keep climbing.

They CF foundation has made such great advances in recent years, some ppl don't look at CF as a terminal disease anymore, but rather a chronic condition that can be managed.

I know you are overwhelmed.. I can imagine how devastating it can be. Hang in there... Stick around this forum and you will get loads of support, and you will get to talk to many moms and dads who know exactly how you feel, also you will get to see many old CFers living realtively normal lives. Like I said I am 33 and I am about to graduate from nursing school in May. I have a good life, and I know many ppl with CF that do as well.


Best of Luck to you ,

Jennifer
33/w CF and Addison's