Immunodeficiencies! - edited

Iridescent - posted on 04/19/2010 ( 7 moms have responded )

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We have a 3 year old that is developmentally delayed and likely autistic. He's always suffered from chronic diarrhea, to the point where he has only had 2 "normal" stools in his life, both of which were coated in lots of mucous. We thought he was having major allergies, so we started the elimination diet.



Pulled milk. His "asthma" disappeared! We were so happy. His diarrhea calmed down, but didn't disappear. Removed and reintroduced tomatoes to find it's a definite trigger. Had no progress with other foods for a long time, but now literally everything we feed him causes diarrhea. If he eats, he has liquid stools. Period.



We got him in for allergy testing on Wednesday (2 days from now). Took him to his therapy appointments and while there happened to comment that he can't blow out. So we tested it. He can't blow out a candle, or a blow a whistle, or a little puff ball off his lips, or his nose. We opened up a party thing and had him blow into the tissue paper to see how much volume he has; he took a deep breath and blew for all he had. He filled the tube 7 inches...thin little tube, estimated 75mL volume. No wonder the kid can't blow! He currently does not have a lung infection or asthma symptoms.



Remembered more of his history, some of which includes a full year of pneumonia that finally resolved last May. Called the allergy clinic and requested we do more testing when we go in. The allergy clinic assesses for asthma along with the allergens, so no problem there. But we also want to find out if his constant diarrhea is possibly not due to allergies but to an absorption problem and related to his lung problems, because even if he has asthma, his breathing should be ok when not infected or having an attack, and it is not. So we're going to have CF tested for as well. It's looking more and more likely, everything we look at.



Anyone else dealing with this or allergies plus asthma that acts like this?

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Heather - posted on 04/26/2010

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Yikes. I wish you the best of luck as you plow through the discovery process.

Iridescent - posted on 04/26/2010

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Thank you. It's not a total shock, thank god I had a chance to look up some of the possible results over the weekend and really went through things with the doctor carefully today once we had the diagnosis. We will be applying for SSI for him though as we can't afford his medications now for long.

Iridescent - posted on 04/26/2010

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We got all the results today. He has 0 IgA! The nurse misread the results, and the doctor called to tell me. Fortunately, he does have the other immunoglobulins. She said he has Selective IgA Deficiency, but has to be monitored because it can become CVID or SCID ("the boy in the bubble" disease). Celiac was negative, so good. He does have severe asthma, he is likely to develop more and worse allergies as he gets older, he needs a lot of monitoring and if he gets worse he'll need immunoglobulin replacement and a port. He needs antibiotics for every illness, even viral to prevent secondary infections. He can't be exposed to animals that haven't been wormed as he has no parasite immunity. He needs a medic-alert bracelet. He cannot have blood transfusions because he will have an anaphylactic reaction.

Heather - posted on 04/23/2010

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my goodness girl! You've got a lot going on. Just wanted to say hang in there, and I hope you find answers soon.

Iridescent - posted on 04/23/2010

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We got the CF test back today - negative! We also got back some of the labs, but are waiting on the rest. He's missing IgA (5 with range of 21-291) and has very high Eosiniphil counts (13.9 with norm range of 0-3). Once the rest of the results are in, they will diagnose him appropriately.

Iridescent - posted on 04/21/2010

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Justin saw the Asthma and Allergy clinic today. He was being seen because of chronic diarrhea despite elimination diets and being sure we got 2 of his allergens out of his diet, in addition to a diagnosis of asthma since a year ago and pneumonia he had had for a full year last winter. His lungs are currently still gross, and he cannot blow out with enough pressure to make papers on a streamer flutter or a whistle blow or to blow his nose effectively or to blow out a candle. At 3 years old, a major problem.



During the history and exam, Justin had a dirty diaper. Typical for him, rather loose, all kinds of gross colors, chunks of food throughout and horribly foul. The doctor stated after I changed him and the nurse brought the diaper to an outside bin that he would be tested for Cystic Fibrosis as soon as we can get him in (scheduled for tomorrow). He has clubbing of his fingertips, caused by chronic lack of oxygen. Continual nasal drainage. Despite removing highly suspected allergens from his diet, he still has diarrhea although less frequent.



Allergy testing showed allergies to mold, milk and tomato. He also has sensitivities to soy and citrus. New diet papers on how to avoid the milk proteins especially because they're in so many foods, and we'll sort it all out soon; just another diet...



The doctor also had labs drawn for IgG, IgE, IgA, IgD, HiB and a couple other vaccine titres and Celiac Sprue (would possibly show if he's gluten intolerant, but can also have a false negative. Positive would be certain positive. Celiac was ruled as unlikely but possible). They're checking to see if he is immunosuppressed with the other labs.



Depending on the results of the bloodwork and the CF testing tomorrow, they may also want him to see GI to find out if he has silent reflux and is aspirating, causing the long-term pneumonia and asthma symptoms.



He currently has an ear infection, sinus infection, upper respiratory infection but not in his lungs. Started on antibiotics (Omnicef) for 10 days, and permanent Nasonex 2x/day, Zyrtec daily, and Albuterol nebs as needed (if >5 per week, go in).

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