**x-posted in special needs**
**Background: Connor has 22q11.2 deletion, called Velocardiofacial Syndrome or DiGeorge Syndrome. http://www.vcfsef.org/about_vcfs/gen...formation.html
Frustrated that Connor is STILL sick (or sick again...) I called his geneticist and ranted a little. Connor seems to go through phases like this...where he has back to back illnesses that are very hard to treat, or that go away and quickly come back. He's had antibiotics every month since April, they've been rotated appropriately (beta lactamase positive to negative, etc), the doses have been appropriate for someone with recurrent infections.
We know he has a Primary Immune Deficiency (t-cell deficit) but it's considered "mild". All of his labs have been pretty unremarkable, with the exception of the mild t-cell deficit. His Ig's have been normal (one lab actually had a high IgM, which the Infectious Disease dr said was just a test anomoly) His mitogen function has been normal.
Anyway...taking into account his anatomical differences, his chromosomal disorder, and his immune deficiency, we still can't quite explain WHY he is so often sick, and WHY his illnesses are so hard to treat. He's breastfed, he's never been in daycare (does go to therapy and now preschool), we supplement Vit D, Vit C, acidophilus, and Omegas (somewhat sporadically, I'm going to focus on being more consistent with those). We've tried chiro, we've tried limiting his public exposure (as much as it makes sense to do, considering he's at school and therapy so much), he eats a pretty decent diet (not perfect by any means, but not all junky), and I add healthy fats (coconut milk, almond milk, fruits and vegetables added to smoothies)
The geneticist recommended we re-do allergy testing (probably a good idea), and he also recommended going to an Immunologist. Right now he sees an Infectious Disease specialist, but the geneticist said "I wonder if there's something like hypogammaglobulinemia that has been missed...worth a second set of eyes and some new labs." Of course I googled that...and came up with CVID (Common Variable Immune Deficiency) http://en.wikipedia.org/wiki/Common_...munodeficiency It looks like the description is right on, with the exception of the low Ig's. But if you look at the bulleted list under "Clinical Features", he has nearly every bullet except the first one (and we don't have "proof" of the second bullet because we haven't dont vaccine titers, but we have done illness titers and they suggest that there is not an appropriate immunologic reponse).
SO...is there such a thing as CVID without low immunoglobulins? If not...then what is it?
[his current infection is a double ear infection, waiting on the cultures now, in the past the culture grew haemophilus influenzae, non-typeable strain. He also has an eye infection and a sinus infection. This is his 4th ear infection this calendar year, 3rd since May. He has also had strep a few times, although not nearly as often as the h. flu ear infections. He has had pneumonia 3 times, with a history of severe dysphagia with aspiration, which appears to be resolved; and also had severe GERD which appears to be resolved]
**Background: Connor has 22q11.2 deletion, called Velocardiofacial Syndrome or DiGeorge Syndrome. http://www.vcfsef.org/about_vcfs/gen...formation.html
Frustrated that Connor is STILL sick (or sick again...) I called his geneticist and ranted a little. Connor seems to go through phases like this...where he has back to back illnesses that are very hard to treat, or that go away and quickly come back. He's had antibiotics every month since April, they've been rotated appropriately (beta lactamase positive to negative, etc), the doses have been appropriate for someone with recurrent infections.
We know he has a Primary Immune Deficiency (t-cell deficit) but it's considered "mild". All of his labs have been pretty unremarkable, with the exception of the mild t-cell deficit. His Ig's have been normal (one lab actually had a high IgM, which the Infectious Disease dr said was just a test anomoly) His mitogen function has been normal.
Anyway...taking into account his anatomical differences, his chromosomal disorder, and his immune deficiency, we still can't quite explain WHY he is so often sick, and WHY his illnesses are so hard to treat. He's breastfed, he's never been in daycare (does go to therapy and now preschool), we supplement Vit D, Vit C, acidophilus, and Omegas (somewhat sporadically, I'm going to focus on being more consistent with those). We've tried chiro, we've tried limiting his public exposure (as much as it makes sense to do, considering he's at school and therapy so much), he eats a pretty decent diet (not perfect by any means, but not all junky), and I add healthy fats (coconut milk, almond milk, fruits and vegetables added to smoothies)
The geneticist recommended we re-do allergy testing (probably a good idea), and he also recommended going to an Immunologist. Right now he sees an Infectious Disease specialist, but the geneticist said "I wonder if there's something like hypogammaglobulinemia that has been missed...worth a second set of eyes and some new labs." Of course I googled that...and came up with CVID (Common Variable Immune Deficiency) http://en.wikipedia.org/wiki/Common_...munodeficiency It looks like the description is right on, with the exception of the low Ig's. But if you look at the bulleted list under "Clinical Features", he has nearly every bullet except the first one (and we don't have "proof" of the second bullet because we haven't dont vaccine titers, but we have done illness titers and they suggest that there is not an appropriate immunologic reponse).
SO...is there such a thing as CVID without low immunoglobulins? If not...then what is it?
[his current infection is a double ear infection, waiting on the cultures now, in the past the culture grew haemophilus influenzae, non-typeable strain. He also has an eye infection and a sinus infection. This is his 4th ear infection this calendar year, 3rd since May. He has also had strep a few times, although not nearly as often as the h. flu ear infections. He has had pneumonia 3 times, with a history of severe dysphagia with aspiration, which appears to be resolved; and also had severe GERD which appears to be resolved]
