SCARED-please help, 3 year old asthma out of control?

Ratatosk

Does she taste salty? Seriously, when I kiss ds, my lips come back tasting salty. CFers sweat out more salt.

babiespalace

Honestly I never tasted her salt, but I always thought she smelled like salt. But when the sweat test came back negative-I thought my worry was over. I remember them saying wow we got a lot of sweat. She had no problem sweating-so I am sure that they had enough to test. We got it done at our children's hospital in PA. The only symptom she doesn't have is weight loss. Her belly is round but soft and her weight goes up and down a couple pounds all the time. She does have constipation-why I have no clue. I am thinking that is why she has the round belly.

babiespalace

Does her symptoms sound like CF or the polymorphins??

Ratatosk

DS doesn't really sweat more than other people -- it's just that cfers have more sodium expelled with their sweat. He does have a round belly -- when he was born he had skinny little arms and legs and a big round belly -- full of poo. But my sister who doesn't have cf -- had the same thing until she was probably 8-9 -- a pot belly.

DS requires digestive enzymes to help aid in digestion of fat and protein -- otherwise he has loose, greasy stools. Sometimes they look like an oil slick.

babiespalace

she does have a round belly, but her bowel movements are very unnormal. They become white/tan-looks like she had barrium, but hasn't. No one really knows why. They are usually formed and she has been having a hard time moving her bowels. They put her on crystalose. I think that is how to spell it. It is helping.

babiespalace

mELANIE'S ASTHMA DOCTOR CALLED TODAY AND CONFIRMED ANOTHER PNEUMONIA. HE WANTS US TO COME IN EARY FOR ANOTHER APPT. HE WANTS TO TALK ABOUT IGIV THERAPY DUE TO ALL THE INFECTIONS.

MELANIE SLEEP STUDY IS TOMORROW NIGHT. SHE HAS BEEN BREATHING GOOD THE LAST TWO NIGHT. FIGURES-JUST HER SLEPING HAS BEEN BAD. THEY TOLD ME IF IT IS HER TONCILLS THE ANTIBIOTICS WILL SHRINK THEM TEMP. AND SHE IS NOW ON TWO THE OMNICEF AND THE Z-PACK. WHO KNOWS I GUESS I'LL HAVE TO WAIT AND SEE WHAT HAPPENS. I HOPE THEY FIND SOMETHING OUT.

cupcake118

I'm on IVIG due to my immune defficiency and it's helped my asthma a great deal and it's helped with the infections as well. Hopefully that will help her.

BYHOPE1113

Sorry I haven't checked back in. Usually I get a nofication when there is a post but I haven't had any lately so I didn't realize anyone was posting. I'm glad I checked.

OK, As far as the polymorphism typically it acts like a few of the symptoms of CF. Here is what K's actual genetic test results read from Ambry Genetics:
This might be long but I want to quote it exactly then try to explain it:

Ambry Genetics - Test Results and Interpretation

"Mutation(s): No Reported Mutations Detected
Novel Variation(s): No Novel Variations Detected
Polymorphism(s): M470V/M470V
7T/7T Variant

No know deleterious mutations were detected.

The results of this test indicate the homozygous presence of a previously described polymorphism, M470V (Kerem et al. 1990) on exon 10 of the CFTR gene. This polymorphism is not currently believed to be disease causing as reported in the Cystic Fibrosis Mutation Data Base compiled by the Cystic Fibrosis Genetic Analysis Consortium, but may contribute in unknown ways to the ultimate phenotype. The results of this test indicate this patient was found to carry the 7T/7T poly T variant."

That's the medical language so in English that translates to:

No CF Mutations were found
No new variations were found
She does have two copies of the M470V polymorphism (one she inherited from me, the other from her dad)
Both copies of the polymorphism are on exon 10 of the CFTR Gene (I have no idea what difference this makes)

At this time M470V is not considered a form of CF, however it can cause some symptoms that act like CF. (I asked our Pulmonary/CF Specialist and she said that at some point in the future scientists/doctors might look back and say M470V was an atypical for of CF but she really didn't think that would happen. She said M470V is fairly common in the population but the reason Karly was having so much trouble is because she has two of the polymorphisms.) There haven't been alot of studies on M470V mainly because it is a newer medical find. Actually I think it was discovered in 1990 but there aren't but a handful of studies.

Karly's major symptom that she has in common with CF is Chronic Sinusitus because she has so much excess mucous. The excess mucous is directly related to the polymorphism M470V. She is genetically inclined to have more mucous and therefore has more sinusitis than the normal child. Karly also has an extensive family history of asthma and the excess mucous triggers her asthma. We fight to control the mucous every day.

You can have the M470V polymorphism with or without CF. In our case it is without CF. CF patients with the polymorphism have an even more difficult time because it just compounds their medical issues.

As for the CVID, I'm pretty sure that is one of the Primary Immunodificiencies. That is another thing that needs to be tested along with the genetic testing.

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I AM MY KIDS MOM

babiespalace

WE just got back from the sleep study but I don't have long. They really wouldn't tell me because the pulmonologist didn't read it. They said about two weeks, but her asthma specialist is going to try to get it in a couple days. Anyways, Melanie had a better night of course, but he said there was still activity-what evert hat means and she is having apnea periods also. No indication on why, but they did say even though she is on all the antibiotics - her toncils are still pretty big but not huge. Last night the pulmonologist said it may be the problem.

Byhope thank you for explaining that. That is pretty complicated but not really. I tried looking it up several times and didn't get much info on it.

I am wondering if her toncils are holding all of the inection and contributing to all the bacterial and viral infections. Is that possible?? I don't know. Anyways I finally feel like I am getting somewhere in all of this mess.

I was to the point of quiting my job from all the sleepless night and stress. I bearly make it through work, but I think since we are getting somewhere-I will hold on a litle longer. I can't wait till they figure ot out.

I do think that maybe the ivig therapy will also help her out and give her a chance to be healthy. We are just waiting for the swab to come back. I think it is micoplasm pneumonea they tested for. He wants to make sure that isn't the culpret first. That he said would be treated with extensive antibiotic therapy. If she tests neg-then he wants to try the ivig therapy.

This has been a long fight, and thanks to all the support from you guys-we are figuring it out. We would probably be no where still if you guys didn't help. Thank you so much. No one really understands unless they have a child with the same experience. I don't know if anyone else experinces that.

BYHOPE1113

Shelly,

I know it helps to have someone to talk to so anytime your frustrated and need help,we are here for you.

Good Luck with the results and I'm glad she's feeling better for now.

Kim

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I AM MY KIDS MOM

moonbec

Shelly,
I've posted here a couple times before regarding the possibiliy of melanie having an immune deficiency and someone else has also mentioned how IVIG has helped her. CVID is Common Variable Immune Deficiency and is treated with IVIG therapy. We are dealing with the diagnosis ourselves for my 2 1/2 year old son. He has not had IVIG therapy yet and we are debating if he could benefit from it now or to wait. He is not as sick as Melanie is, but if he was... if we were going through all that you have been through, we would definately give it a 3 to 6 month trial. Our immunologist said it would take a minimum of 3 months to know if he would respond and that they usually give it 6 months. If Melanies immunoglobulin levels are low, this will make her healthy again and she will be able to live a normal, healthy life (and so will you). Good luck with all of this. Whether it is that other pnuemonia or if it is CVID or another primary immune deficiency, at least you are on your way to getting your sweet girl healthy, and getting answers to how to keep her that way.

celtic_mom

Shelly, glad she finally had the study done. Maybe something useful will come from it. As far as the tonsils question - who knows? I think at this point it is safe to say anything is possible. I never in a million years would have thought sinusitis would have led me to an asthma attack (and possibly developing it in the first place). I would definitely find that new ENT if you haven't already. If the pulmonologist mentioned it, that would be reason enough to explore that possibility.

marjoe60

Chemicals in her environment can be adding to her troubles. When the city oversprayed my neighborhood with malathion half of our neighborhood came down with asthma including myself and my grandaughter. My environmental doctor recommends taking everything out of one's bedroom for people with asthma because many items outgas chemicals and collect dust. Try taking everything out of her bedroom ( including the rug ) but her bed and see if that helps. I had to get an air purifier too until I moved to the country. When I moved to the country my sleep apnea also stopped. It is sometimes connected to air quality. Also make sure there is no pressed wood in her bedroom furniture. My grandaughter used cough all night until we removed her bedroom set and she was instantly better after 2 yrs.
Make sure her sheets are 100 per cent cotton and use no fabric softener.

nelldance

along those same notes...wicker furniture also .....

Anyways, hope everything gets better soon!

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Nellie