Confused in California

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Tammey

New member
Hi,
My daughter is 3 and for the last 6-8 months she has had Pnemona 4 times. She constantly has a cough no matter what time of day or night. They have done blood work on her and they want to do allergy testing as well as the sweat test. Im a little concerned because it seems she does not eat hardly at all and it constantly taking asthma medicine and steroids thru a inhaler or a breathing machine. Its very frustrating because I dont feel they are doing enough to help her and I feel completely helpless. At times she will have coughing attacks for hours and not be able to catch her breath and othertimes she vommits from the attack.

Is anyone out there have any words of wisdom.

Thanks
Tammey
 
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damiensmom

New member
Insist on genetic testing and blood work to rule out cystic fibrosis. A sweat test is not enough.We were sent home without knowing he had CF and it was devestating to watch him starve literely. Be insistive just to rule it out CF that is. And if your baby does at least you will be able to care for her the best to your ability
 
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anonymous

New member
Thank you very much for your information. So evne if the sweat test does not show CF is should still have the genetic belood work done. This is great. Thanks so much.
Tammey Kayla's mom
 
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julie

New member
Tammey, if you go with a standard lab for the CF blood testing, such as genzyme be aware that they will only test for 25-89 of the most common CF mutations. There are over 1000 KNOWN CF mutations. If you aren't comfortable with a test that looks for only the most common, not all, I recommend you look into quest diagnostics. Just go to MSN or google and type in quest diagnostics. Then once on their search page type in cystic fibrosis. It will give you information about their CF test, where doctors or nurses or offices can go for more information (billing, insurance...). Good luck and let us know what the results are.
 
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anonymous

New member
Thank you for the information. I am compeltely new at this whole process. I am not too sure what mutations Stanford tests for but I will make sure that I ask the question. To be honest im not even sure what mutations are. Im sure I sound like a dumb mother now but the doctors have given me no information on anything. We have plans to take Kayla and her sisters and brothers to the snow this weekend but usually that gets cut short by the coughting attacks.

Thanks for all your information.

Tammey Kayla's mom
 
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JazzysMom

New member
Mutation is a permanent change in hereditary material such as a gene.....I guess U can say that the different mutations are different "brands" or alterations of the CF gene. Some believe that the different mutations dictate severity or other info. I personally dont believe it, but I could be wrong. It happened once before LOL!
 
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julie

New member
Tammey, don't feel dumb, CF is a very confusing thing, VERY confusing!!! Melissa already went over mutations for the most part, but for example, my husband Mark has 2 Delta F 508 mutations, which is one of the most common CF mutations. In order to have CF, a person must carry 2 mutations (whether they are the same mutations, or two different mutations, they still have CF if they have 2), if they have just 1 mutation, they are a carrier. Many people on this site have Delta F 508 and then some other mutation, sometimes a rare mutation that was found on an expansive blood test. Mutations, when we refer to them, are .... I guess variations (another name). Doctors are trying to research as to whether or not the mutation type (name) will determine the severity of someone's CF. At this point, most research points to NO because even twins with CF (and therefore the same mutations of course) have different severities of CF, so it all gets very confusing. Hope that helps a bit. Ask as much as you need to!!!!!!!!!!!!!!!!!
 
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anonymous

New member
Thanks Julie,
This can all be over whelming. I just wish I knew how to help her. At times she seems like a normal 3 year old and at other times its just so frustrating for me and her. I see there are so many woman dealing with this and the dads are just there not stressing out why is that. My husband insists there is nothing wrong with her but if there was nothing wrong then why does she constantly have a cough and it choking. My doctor suggested I get her a TB skin test which is did last week and it was negative. She then suggested me to give her Zantac which from readingon the forum there are alot of kids taking that as well. I have not seen to much affect for that but then again what would i see? Any was we go on Friday for the sweat test and I am a bit scared. They also want to do a upper GI on her as well. I think the bottom line is they dont know why she is constantly sick and neither do I. I have 3 other kids as well a 16, 13 & 7. My 13 year old and 7 year old have Asthma and even thogh they are giving kayla asthma medicine it does not seem to be working. One other thing is I took Kayla to what they call a Pulmo/allergy specialist for them to do allergy testing on her. the doctor refused at the time because kayla would no sit still. But she looked and the last 5 x-rays where they told me she had pnemonia and said "Oh I would not say she had peumonia all of those times just an infection" I saw the x-rays and they showed cloudiness in her lungs so if its not pneuonia than what is it. They were be wildered by my question. Any way sorry for rambling still just very confused with whats going on with my baby.
Tammey- kayla's mom
 
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Alyssa

New member
Tammey,

Keep on insisting on CF testing -- even if the sweat test is still within the "normal" range (40 and below). My daughter had a sweat test three times when she was 5 years old, each time she hit just below 40 (38 & 39) so we were told she had "asthma with productive cough". We treated her CF lung infections for 8 years with asthma medication instead of antibiotics -- finally when she was 13 years old we were sent to Children's hospital for genetic (blood) tests -- this was not available when she was 5 years old -- the blood test shows two known CF gene mutations DeltaF508 and R117H. We later found the same two genes in her brother and his sweat test number is 41 -- so you can be relatively healthy for many years and not know you have CF.

Keep plugging along in your search for answers. You have found a wonderful site here -- I hope you get an answer soon.
 
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anonymous

New member
Thanks- so is it 40 and above is positive CF? Below 40 with all the systems is just what ever they want to call it I guess? How did you test for those certain mutations? Was that blood work?

Are you and your husband carriers- alot of people on this site are not but there children still test positive.

Tammey- Kayla's mom
 
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HD

New member
Hi! Just wanted to answer the above. CF is autosomal recessive meaning both parents have to be carriers in order for a child to have CF. You have a one in four chance with each pregnancy of having a child with CF. Kind of like this. C represents a normal CF chromosome, c- a mutation for CF. So each parent that is a carrier is a Cc. Each parent gives one chromosome to the child so you cuold have: CC-non CF non carrier, Cc-Carrier/no CF, cC-Carrie/no CF, or cc - CF disease. Does that make sense? It would be easier if I could draw a box like I do for my sudents!
 
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anonymous

New member
Wow, thats a high percentage 1 in four- Thanks so much for the information. Mykayla is my 4th child so hopefully when I go on Friday to Stanford they can tell me a little more. I have alos heard that it takes 24-48 hours to ge tthe results is that correct?
Tammey
 
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HD

New member
If it is a sweat test and is done on site you get the results almost immediately. My son's was done at a CF center in a special lab and by the time we got up to the clinic the results were in. He was diagnosed by a pediatric gastroenterologist and then was referred to CF. His was way pos. 89 (my daughters was 16). We did the genetic testing to see what mutations he had and both of his chromosomes were the most common D508
 
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julie

New member
Tammey, here's a link to a page on my website about probabilities of inheriting CF (providing the parents hae been screened!) <a target=new class=ftalternatingbarlinklarge href="http://www.cysticfibrosismaleinfertility.com/Where_to_begin.html">http://www.cysticfibrosismaleinfertility.com/Where_to_begin.html</a>.

Where some parents are saying, "our child was diagnosed with CF via a sweat test, but neither my husband nor I are carriers"... This can be confusing but what they mean, or what the situation is, is that their child tested Positive on a sweat test, not a blood test. The parents were screened via a blood test for their carrier status and if they just had the "standard" 25-89 mutation panel and it is not discovered, they are carriers of rare mutation. Some even have an extended panel and still nothing but their child DOES have CF. It is believed there are still CF mutations that are unknow and unnamed yet. Hope that makes sense.

I have heard sweat tests vary depending on clinic, anywhere from immediately to a few weeks later.

As far as a blood test, Quest or Genzyme standard test take about 1-3 weeks. The quest extended panel takes about 4-6 weeks because of the extensive testing.
 
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anonymous

New member
Thank you- I just wanted to give you all an update. We went on Friday for the CF test and are still awaiting the resluts. Could this be any more agonizing. I cant stand the waiting.
Tammey mom to Kayla
 
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anonymous

New member
well my doctor just called and said the Cf result was 17 no it is negative. Thank goodness.
Now my question is then what is wrong with her?
Tammey Kayla's Mom
 
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