4 possitive sweat tests - need help

[anonymous]

Our son will 5 in just a few weeks. He was diagnosed at 5 months with asthma, 12 months with growth hormone deficiency had his first sweat test at 2 yrs that was possitive followed by 2 more but a genetic test showed no gene mutation so we dropped the issue - he subseqently had 6 sinus infections - 4 of them lasting more than 13 weeks and 2 hospitalizations. He has always been very small for age but he was diagnosed with GHD and went on DH injections daily ever since so no one paid attention to his growth - blamming it on GHD. Now we moved saw a new ped and after yet another sinus and ear infection she sent us to an ENT because my son was starting to loose his hearing. luckily we had his anoids removed and tubes placed and his hearing is restored but the doc didn't like the sound of his cought so he had another sweat test - I swore to all of them I was not putting him threw another one. this one again came back possitive - we requested all of the med records and well it turns out he was only tested for 25 gene mutations. On almost everyone of his med sheets from either well or sick visits they all say suspect CF. He had a CT scan doen when he was 18 months to check to see if his piuitary was causing the issues - turns out the rediologist stated he had mucous thickening, etc in his sinuses - but because the report only went to the endo - he just saw that his pituitary was fine. Now we go to the CF clinic for our first visit in 2 weeks. My DH and I have not even talked about all of this because well it's obviously not a pleasant topic and there is still so much we don't know or are questioning. Since we are still transitioning the move DH is not here 3/4 of the time - we moved out before his job would let him. I am really scared though .. he is starting to complain about stomach aches and he started coughing again and I know he has another sinus infection .. he starts waking up at night coughing .. from the fluid going into his throat. I am trying to figure out how we are going to deal with all of this and well I just don't know .. GHD was really hard .. we struggled with the diagnosis for so long and finally started the injections - I thought giving my child a shot was going to be the hardest thing I would ever have to deal with .. I was wrong. just looking for support and any suggestions before we go to the CF clinic - I have copies of everything now.

 

[Augustmoon]

I'm so sorry to hear all that you and your son have been put through!!! Have they done another genetic test since? I am a mom to a 9 1/2 month old son with CF (and an almost 4 yr. old without) and I can tell you that if it IS CF and he gets the meds that he needs, he will feel so much better!! It will be amazing!Please email me if you'd like to talk (or vent)... I'm pretty new to this too! (augustmoon0003@aol.com OR www.fightforethan.com) It's a hard thing to deal with as a mother, but if you have support from family, friends, and others going through the same thing, like us, it really, really does help!

 

[Augustmoon]

Sorry...I didn't mean that it WASN'T hard for anyone else to deal with, because, obviously, it is. Just letting you know that I know how you feel <img src="i/expressions/heart.gif" border="0">

 

[Drea]

I am so sorry that you are going through all this. I know first hand how hard it is to deal with this diagnosis, but I can't imagine having gone through so much misdiagnosis beforehand. It is unfathomable to me that the doc's did not diagnose CF with 2 positive sweat tests, let a lone 3. (if you are a litigous sort of person, you could sue their pants off) I find it shocking that they let you go on believing that he doesn't have CF because they did a basic mutation study that came up empty. There are over 1000 known mutations and they are not finished finding all of the mutations yet. Honestly, with his history, and positive sweat tests he should have been diagnosed without the genetic blah blah blah! That IS how they diagnosed people with CF before they were able to do genetic testing.don't wast time worrying about how to deal with all the changes you are facing. You will figure it out as it comes, because you have no other choice. You are his mom and I know that you will do what you have to do. You can call the CF clinic and request a sick visit before the scheduled visit, if he is really coughing up stuff and getting sick or call the peds and ask if they can get you into the CF clinic sooner (sometimes theypull a few strings for their patients) . Just tell them the situation. Do not be shocked if he has to be hospitalized due to an exacerbation. He will feel better again, as soon as he gets the right meds and treatments.suggestions:get a binder and keep track of all his meds everyday until you get used to administering them. (list med and time of administration each time you give them) He may be given several new meds and it may be hard to remember what to give and when or if you even did it yet. They also may change them a few times before things settle down. I kept a book for 1+ yr after my daughter was diagnosed to help me keep it all straight (and I am usually pretty good about that kind of thing). I also kept a log of all eating and stools because of the growth/weight gain and digestive issues that go with CF. in that same binder keep a list of things you want to ask the doc and also the docs answers. keep a section for any info the doc tells you- such as what bacteria your child is culturing when they check him. Take your binder with you to CF clinic and use it as a reference when they ask you stuff. (they will ask you a lot of things you never thought about- like how many times does he poop and is his gas really smelly.) These things will help them gage what is going on with him. also keep track of anything that is going on with him, even if it lasts only a day or so. You might forget about a fever from 2 weeks ago that might be the begining of an infection or something. I hope this helps you. There is nothing I can say that will ease your heart, but I will keep you and your child in my prayers.Andreamom of Rachel 5 & 1/2 with Cf ans a boy on the way, no CFgo to http://groups.msn.com/TeamRachelJane for more info about CF, our experiences with CF, our family and Rachel herself

 

[anonymous]

Dear anonymous,There are over a 1000 different mutations of the CFTR gene, for the labs to test for each one would be extremely expensive that is why they only test for certain mutations. I just had my test done and they only found one of my mutations the other one they obviously do not test for. I hope everything works out for your son and he gets the proper care.Dave 2p w/cf

 

[Drea]

Dave,I am not sure where you are from, but that is not quite true where I am (U.S.) Ambry tests for all or almost all of the genes known thusfar. it is a pretty expensive test and not usually the one they do first, but with 3 positive sweat tests and no mutations in the basic screening, it would have been only common sense to go on to other tests. I know that Genzyme tests for about 85 mutations currently and that test is not so expensive. Insurance probably would have paid for it with the positive sweat tessts. (ours did when our daughter was first diagnosed- at that time they were testing for 70 mutations) There are other tests available to test for larger amounts of mutations, too and to not have even spoken to the parents about the possibility and to have disregarded 3 positive sweat tests is totally irresponsible on the doc's part.For yourself, you have obviously already been diagnosed without the genetic test, if you are just finding out about your mutations now. Some insurances will pay for further testing if you are interested in finding out what mutaions you have, others will say, well what is the difference, we already know you have CF, why bother? I mean, honestly the basic 25 is great if you are a carrier of only the most common mutatoions, but if you have a slightly less common one, like my daughter does and one more common one, the basic 25 is pretty pointless. Do you know how many mutations you were tested for? Your mutation could be in the next set of mutations or in the unknown group. if you were tested for the 1000 that they test for, you are right, they may not test for your mutation yet, but if you only tested for 25 or 30, it could be that your test was just incomplete. The cost for the next test up the line (if someone has only gotten the basic one), is not so prohibative that it shouldn't be tried, if it will effect the diagnosis of CF. How weird that the doc's just didn't diagnose him with CF with 3 positive sweat tests and his history anyway? I mean, that is how it was done before 1989 anyway!!!!!Andrea