CVID without low immunoglobulins? - Mothering Forums
Forum Jump: 
 
Thread Tools
#1 of 11 Old 08-11-2010, 04:15 PM - Thread Starter
 
2boyzmama's Avatar
 
Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Posts: 5,976
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
**x-posted in h&h**

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?

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
2boyzmama is offline  
#2 of 11 Old 08-12-2010, 07:24 AM
 
markincleveland's Avatar
 
Join Date: Aug 2010
Posts: 1
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
It is impossible to have a primary immune disease, CVID, common variable immune disease, hypogammaglobulinemia without reduced IgG. That is the cornerstone of the diagnosis. When you say , "We know he has a Primary Immune Deficiency (t-cell deficit)" that is absolutely false.

As frustrating as it may be, may I suggest you stop trying to diagnose your child from the internet. If you don't have confidence in you kid's medical team, find another team. If the locals are not adequate, go to a major medical center, Mayo, Cleveland Clinic, Denver, St. Judes, UCLA, Stanford, Children's Hospital of Philadelphia or Harvard wherever. If you can find a study at NIH go there. In your neck of the woods, I;d probably try Cincinnati Children’s Hospital as a first stop

By the way, I have a primary immune disease as do both of my children.

I
markincleveland is offline  
#3 of 11 Old 08-12-2010, 08:43 AM
 
OdinsMommy0409's Avatar
 
Join Date: May 2010
Location: Memphis, TN
Posts: 410
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
(((hugs))) I can only imagine your level of frustration right now. It sounds like the geneticist has a good plan with getting retested for allergies. With Connor older now, hopefully the allergy testing will be more accurate. Plus, it sounds like seeing an immunologist is in order for determining a possibly more accurate immunodeficiency.

Wife to Chris 12/27/07. DS1 Earth Day 2009 (4/22). DS2 March 6th, 2012. nocirc.gif saynovax.gif winner.jpg femalesling.GIFfamilybed2.gif  vbac.gif

OdinsMommy0409 is offline  
#4 of 11 Old 08-12-2010, 10:57 AM - Thread Starter
 
2boyzmama's Avatar
 
Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Posts: 5,976
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Quote:
Originally Posted by markincleveland View Post
It is impossible to have a primary immune disease, CVID, common variable immune disease, hypogammaglobulinemia without reduced IgG. That is the cornerstone of the diagnosis. When you say , "We know he has a Primary Immune Deficiency (t-cell deficit)" that is absolutely false.

As frustrating as it may be, may I suggest you stop trying to diagnose your child from the internet. If you don't have confidence in you kid's medical team, find another team. If the locals are not adequate, go to a major medical center, Mayo, Cleveland Clinic, Denver, St. Judes, UCLA, Stanford, Children's Hospital of Philadelphia or Harvard wherever. If you can find a study at NIH go there. In your neck of the woods, I;d probably try Cincinnati Children’s Hospital as a first stop

By the way, I have a primary immune disease as do both of my children.

I

No, Connor has a lab-confirmed diagnosis of DiGeorge Syndrome http://www.primaryimmune.org/publica...ats/e_ch09.pdf or Velocardiofacial Syndrome. He has chronically low t-cells, which is in fact a Primary Immune Deficiency.

I am not trying to diagnose my child via the internet, he is currently seeing 9 different specialists, many of them at Cincinnati Children's (including the Geneticist I referred to in my original post). I am merely trying to understand the potential diagnosis the Geneticist mentioned. It seems that he fits many of the clinical symptoms, yet is missing the key diagnostic criteria, an Ig deficit of some sort (by the way, nowhere have I read that it has to be an IgG deficiency to be CVID, in fact everything I've read says that it's any Ig deficiency, or any combination)

But without that cornerstone of the diagnosis, is it not CVID? I'm guessing not, so I'm wondering what looks like CVID, but does not have low Ig? I know there are some very smart regulars on this board, so I'm reaching out to see if anyone has heard of such a thing.

I do think the allergy testing is a good idea, we did it once, but he was young. So worth testing again.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
2boyzmama is offline  
#5 of 11 Old 08-12-2010, 11:01 AM
 
RoadWorkAhead's Avatar
 
Join Date: Sep 2005
Location: Florida
Posts: 2,053
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
The lack of vaccination titres may make it impossible to diagnose his specific issues. Until we vax'd DD, we had no specific proof of an immune issue despite chronic infections that appeared to be t-cell related. When we vaccinated against pneumococcus and found a very poor response, they were able to diagnose her with Specific Antibody Deficiency. DD has many hallmarks of CVID but she does not clinically present with CVID (no specific Ig deficiency). I'd still be questioning it had they not told us she was at serious risk, causing us to start and catch up her vaccinations. We wouldn't have a diagnosis without it, and as prone to infection as my child is, I'd hate to see the effects of any VPDs. Poor kid can barely deal with the common cold. RSV and coxsackie were godawful for her.
RoadWorkAhead is offline  
#6 of 11 Old 08-12-2010, 02:32 PM - Thread Starter
 
2boyzmama's Avatar
 
Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Posts: 5,976
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Quote:
Originally Posted by RoadWorkAhead View Post
The lack of vaccination titres may make it impossible to diagnose his specific issues. Until we vax'd DD, we had no specific proof of an immune issue despite chronic infections that appeared to be t-cell related. When we vaccinated against pneumococcus and found a very poor response, they were able to diagnose her with Specific Antibody Deficiency. DD has many hallmarks of CVID but she does not clinically present with CVID (no specific Ig deficiency). I'd still be questioning it had they not told us she was at serious risk, causing us to start and catch up her vaccinations. We wouldn't have a diagnosis without it, and as prone to infection as my child is, I'd hate to see the effects of any VPDs. Poor kid can barely deal with the common cold. RSV and coxsackie were godawful for her.
I'm interested to learn more about her...you said that she had a poor antibody response to vaccines...that is what the drs are "assuming" will happen with Connor, based on his antibody response to illness (RSV, Varicella, H. Flu., etc) but we haven't done the actual titers.

How many extra doses did your dr need of each vaccine before she showed an appropriate immune response? Because that's what Connor's Infectious Disease specialist wants us to do...give him a vaccine, test titers, give another dose, test titers, etc until we get up to an acceptable level. When I asked how many extra doses he might need, and what the risk to repeated doses might be, the ID dr didn't have an answer for me. Even if I trusted vaccines, I wouldn't be thrilled about all the extra aluminum, formeldehyde, etc. In theory his body could filter them out between doses, but we don't know how good his kidney function is (we've had issues with his kidneys before, although not since infancy, and his liver function appears normal, so that's good)

Because I fully agree that a VPD is a major concern for Connor, but if the vaccines won't do any good anyway, then what's the point? Or if we have to give him a dozen doses, then we introduce new risks to weigh.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
2boyzmama is offline  
#7 of 11 Old 08-12-2010, 03:04 PM
 
RoadWorkAhead's Avatar
 
Join Date: Sep 2005
Location: Florida
Posts: 2,053
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
DD has had developed full immunity to DTaP (well, TD are the titres checked) within normal dose ranges. The titres will be followed to monitor any possible drops. She specifically didn't respond to Prevnar. As of now, she's had a single dose of Prevnar at 2.5, a dose of Prevnar 13 in June, and she'll get Pneumovax in August. The Prevnar 13 helps with immune response to Pneumovax so we opted to do both instead of just one. We have not checked other titres as the normal Ig/B/T cell levels had them thrown for a loop so this was just a quick check up. I thought we'd get excused from immunology that day...Now we have to worry about later developing CVID as it can go either way with SAD, especially since DD's overall condition is undiagnosed but suspected mito. As of now, we spend about 10-15 days a month with some illness or another. She also gets random fevers/plummeting temps due to autonomic issues, so we never know what is causing what. She's prone to ear, eye and lung infections, but she also doesnt deal well with any normal childhood illness (except CP, but she was fairly recently weaned at that time and may have still carried lingering antibodies). Her initial t-cell concern was due to candida esophagitis in an otherwise healthy 2 year old on scope.
RoadWorkAhead is offline  
#8 of 11 Old 08-12-2010, 04:14 PM
 
snuggly mama's Avatar
 
Join Date: Mar 2004
Location: snugglin' on a comfy couch
Posts: 1,623
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Hi 2boyzmama! I haven't been around in a while, but certainly remember Connor and his story. My daughter has multiple diagnoses as well, including a confirmed diagnosis of CVID, so hopefully I can shed a little light.

When she was diagnosed, she had low IgA, IgM, and IgG. Symptomatically, she was sick ALL the time...pneumonias, ear infections, sinus infections. She'd finish one round of antibiotics, and within 3 days, she'd be sick again. Everyone blamed it on her transplant, saying she was "immunocompromised", but even all the transplant kids were healthier than her! We finally got in to see an immunologist, who actually tested for genetic markers and levels to get a diagnosis.

She's been on IGG treatments for several years, and I can't even tell you what a difference it has made. Perhaps Connor doesn't have CVID, but if he has any kind of immune disorder, than seeing an immunologist and potentially finding a treatment for him could make a world of difference.
snuggly mama is offline  
#9 of 11 Old 08-12-2010, 09:18 PM - Thread Starter
 
2boyzmama's Avatar
 
Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Posts: 5,976
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Thanks snuggly! I do remember you

Still waiting on the immunologist referral, and who knows how long the wait is. THe good news is that his current infection seems to be finally clearing up.

He has only had his Ig's tested twice, but both times they were normal, his mitogen function has also been normal. His t-cells have been tested more often, and they have always been low, but in the mildly deficient range (the infectious disease dr used an HIV scale to show me the ranges for the classifications).

Thankfully none of his infections have been too severe. He has been hospitalized with pneumonia, a UTI, and rota virus. He's had many (many!) more illnesses, but those are the only ones that required hospitalization. He had a PICC line for haemophilus influenzae (non-typeable). He's gotten through RSV, more pneumonias, tons of ear infections, a few sinus infections, chicken pox, impetigo, and hand/foot/mouth without serious issues. But still...that's quite the list for a 3 year old!!!

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
2boyzmama is offline  
#10 of 11 Old 08-16-2010, 07:05 PM
 
my3peanuts's Avatar
 
Join Date: Nov 2006
Location: Northwest MN
Posts: 2,647
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Ds was recently diagnosed with hypogammaglobulinemia which I've read is basically the same thing as CVID. He does have low IgG levels though. I think low IgG is a pretty major part of CVID so I'd be hesitant to say it's a possibility even though he has a lot of the other symptoms. I've been doing a lot of research lately on Immunedeficiency and if I come across anything that sounds like CVID without low IgG levels I'll let you know!

Nicole, mom of 3. Mitochondrial Disease.: Epilepsy
my3peanuts is offline  
#11 of 11 Old 08-16-2010, 10:43 PM - Thread Starter
 
2boyzmama's Avatar
 
Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Posts: 5,976
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Quote:
Originally Posted by my3peanuts View Post
Ds was recently diagnosed with hypogammaglobulinemia which I've read is basically the same thing as CVID. He does have low IgG levels though. I think low IgG is a pretty major part of CVID so I'd be hesitant to say it's a possibility even though he has a lot of the other symptoms. I've been doing a lot of research lately on Immunedeficiency and if I come across anything that sounds like CVID without low IgG levels I'll let you know!
Thanks!! Basically that's what I'm looking for...something that looks like CVID but out low Ig. No idea if there is such a thing, that's why I'm reaching out!

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
2boyzmama is offline  
Reply

Quick Reply
Message:
Drag and Drop File Upload
Drag files here to attach!
Upload Progress: 0
Options

Register Now

In order to be able to post messages on the Mothering Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
If you do not want to register, fill this field only and the name will be used as user name for your post.
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



User Tag List

Thread Tools
Show Printable Version Show Printable Version
Email this Page Email this Page


Forum Jump: 

Posting Rules  
You may post new threads
You may post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Trackbacks are On
Pingbacks are On
Refbacks are Off