Re: New to this group, advice needed...

[Guest guest]

Good Morning Silke,

I am so sorry for the struggle you are having and that your son is

fighting.

I really cannot tell you much....other than that with IGa

Decifciency, it sounds like he also has a subclass deficiency (IgG

sublasses).

With immune disorders.....kids can be incredibly different in terms

of the problems caused by the disorder. In our family, we have one

child that gets pneumonia 6-8 times a year (which has stopped with

IVIG) and my 4 year old had diarrhea...bloating and tummy aches

since birth.....never had a normal bowel movement until she started

IVIG. But she did not have recurrent infections like her sister

with the exception of ear infections.

We do not have IgA issues, so I cannot tell you mcuh about that

except that some many patients with selective IgA deficiency are

completely non-symptommatic....some have terrible problems.

There is just no predictable and common way for a child to have a

PID...they are all unique in the way they are affected by the

disorder.

Good luck and my prayers are with you.

Terri

>

> Hello you all,

>

> I am new to this group and would like to introduce myself. My name

is

> Silke and I am German (I apologize for all mistakes in advance, my

> english isn´t best), but have been living in Guatemala for almost

six

> years now. My husband is Guatemalan and a Gastroenterologist (we

knew

> each other in Germany while he was studying there). Our son Johann

is

> now 17 months old and has passed through a lot, as I imagine all

of

> your kids did. I will make his story as short as possible. If you

> don´t want to read it, please switch to the last paragraphs –

maybe

> your can help me answering some questions???

>

> When he was 5 months old, he was diagnosed with Failure To Thrive,

no

> clear reason was found, despite all lab work. I was told to give

him

> food and formula instead of breastmilk and I guess that was what

made

> him even more ill. When he was 6 months old (still without any

> improvement in growth and weight), he started to refuse gradually

any

> kind of food/liquids. At 6.5 months of age, he refused any food

and

> liquid intake at all for several days and was hospitalized due to

his

> dehydration and undernutrition. IV-Line, Nasogastric tube, lab

work,

> gastroscopy and sigmoidoscopy followed… . High IgE level, anemic,

> trombocytopenic, severe gastroparesis, colitis with linfoide

nodular

> hyperplasia. Several months without any significant improvement

> folllowed, diarrhea, vomiting 2-3 a day. We tried first

Nutramigen,

> then Elecare. First he got better on each, after a few weeks

though,

> the whole thing started all over again. Eosinophilic

gastroenteritis

> was suspected. In a second hospital stay, the ng tube was

substituted

> by a PEG and a new endoscopy showed esophagitis and

gastroenteritis

> as well. A new sigmo was not realized.

>

> 6 weeks ago, we came to Germany to a specialized hospital where

we

> finally got a clear diagnosis. His lab work showed an IgA

deficiency

> in serum, no IgA at all in saliva, mild IgG deficiency with mild

IgG1

> deficiency and IgG3 too high (???). New diagnosis: selevtive IgA

> deficiency. Due to this, severe food allergies with colitis and

> diarrhea, gastroparesis and vomiting due to this motiliy issue.

>

> Now he is 17 months old, we had to switch to Pregomin AS, an

> elemental formula like Elecare, as he started to react on Elecare.

On

> Pregomin AS, he started to drink a bit in a bottle (yeah! He

didn´t

> do this since he was 4 months old!), but is still tube fed 80%.

His

> PEG was replaced by a Mic-Key button in Germany. We are still

here,

> as we want to wait how the first food trials go. A week ago, we

> started with rice and I´m not sure about he is having symptoms or

> not. He is crying much more, not that " happy " anymore as he used

to

> be the first weeks on Pregomin AS, wants to be carried all the

time

> (very untypical for him), today he started with mucous diarrhea,

but

> only a little bit (?). Is everything beginning again??? Is he

> reacting or not? I hope, the panorama will be clearer in a few

days.

>

> May I ask some questions, as this is still very confusing to me? I

> would appreciate any opinion, case info, experience… .

>

> Is this frequent, food allergy due to IgA deficiency? Treatable?

Will

> he outgrow this? Why is he reacting always so late (1-2 weeks

after

> food introduction)? What will be his future? Which symptoms do

your

> children have? Is there a higher risk that he will develop

autoimmune

> diseases some day? Why does he not suffer from recurrent

infections?

> Is this logical, only food allergy as a symptom? I have thousands

of

> questions, but step by step. I would love to read a few answers.

>

> As I don´t have internet access daily, please answer directly to

my e-

> mail.

>

> Thousand thanks for all your help,

>

> Best regards,

>

> Silke

>

> Mom to Johann, 17 months, IgA deficiency, MicKey button, Pregomin

AS

> 80% (elemental formula), severe food allergies

>

[Guest guest]

Because IgA coats the lining of the stomach and it's absent in his case that

means his stomach has been exposed to all types of bacteria. Has he ever tested

stool positive for guardia, parasites, h pylori, bacterial overgrowth?

his problems now that he's taking rice could also relate to an oral aversion.

He has been tube fed for so long that if he hasn't taken much by mouth he might

be a bit rebellious. Is there any type of feeding clinic at the German

hospital?

Has he had an anti-IgA test done? With no IgA in his saliva it's probably a

good idea to know if he has anti-IgA antibodies. This could play a role in the

future if he needs certain treatments that have trace amounts of IgA

(specifically gammaglobulin therapy).

has anyone in the family ever been diagnosed with a PID? Husbands family, your

family? Anyone symptomatic but not tested? IgA deficiency can be progressive

and turn into a more defined antibody deficiency. Has he had any bloodwork to

test if he responded to childhood vaccinations? Did he receive the BCG (sp)?

If he doesn't have adequate levels of protection from his shots then he needs a

different type of treatment.

Do they use pediatric Gastroenterologists there? It's funny but usually around

here we talk about the moms and how we have to either make a choice of being the

" mom " to our child or taking on a more aggressive role and being more the

investigator. I'm sure Johann's dad is having to make tough choices right now

too.

Our daughter's pediatric GI doctor is actually very well versed on how PID's

affect the GI system and has been great about coordinating care with her

pediatrician and immunologist. He is formerly from the CDC in Atlanta and has a

good bit of PID/GI knowledge.

Welcome to the group and I hope the trials continue successfully and you can be

home soon.

Ursula - mom to (14) and Macey (11, CVID)

http://www.primaryimmune.org

http://www.jmfworld.org

http://members.cox.net/maceyh

[Guest guest]

Hi, Silke.

I am sorry to hear that you have been through so much with Johann.

My daughter's first sign of an immune deficiency was problems eating. She had

terrible GI problems (gut " stopped " for 10 days) and refused any food. She

would gag or throw up even with the mildest foods so I keep nursing and she got

90% of calories from breastmilk until she was nearly 2 years old. At 16 mos, I

tried to wean her and she got much sicker -- so I kept going and she lasted

another year without IVIG. She also developed chronic relapsing infectious

colitis which is now controlled with IgG replacement and a medical grade

probiotics (everything is closely monitored by her docs). She continues with

motility problems which is controlled with an osmotic cathartic, miralax (also

under doc guidance).

It sounds like your child's situation is more complicated than our's but the

similarities are uncanny.

Sorry that I can't give you advice but I will try to address some of your

questions:

" Is this frequent, food allergy due to IgA deficiency? Treatable? Will he

outgrow this? "

Some children can 'outgrow' their condition. Kids with Primary Immune

Deficiencies generally do not outgrow their condition. As you know, severe

allergies are part of an irregular immune reponse. Most of the children here

get better with proper management but the underlying problem remains.

" What will be his future? Which symptoms do your children have? "

Most of the kids have pulmonary, sinus, and/or gastro issues but this is not a

comprehensive list by any means. In our case, it was a gastroenterologist and

not our first immuno that wanted IVIG initiated with my daughter. Our second

immuno understood the GI-immune connection.

" Is there a higher risk that he will develop autoimmune diseases some day? "

Yes, it is possible if he has true immune irregularities.

" Why does he not suffer from recurrent infections? "

His infection history is not so clear...our PIDers may manifest things quite

differently. It would not be out of the question that some of his chronic

problems are related to recurrent infections -- but I don't really know. For

example, h.pylori, c.diff, and giardia, can cause all sorts of odd GI symptoms.

In the recent past, docs did not know that GI/stomach ulcers were not due to

" infections " or micro-organisms (e.g., h.pylori infections used to be treated

with anti-acids!..oops) but we now know that this is not true. My daughter had

a chronic relapsing GI infection that she could not overcome, due to her weak

immune function, and caused colitis. Possibility a motility disorder as well.

We had many false positive stool tests before having the test run correctly and

finding that her acute GI problem was related to an infection + poor immune

function + slow motility (though this is a bit of a chicken or egg problem).

Have you had tests run? Stool? Overgrowth? etc? Sorry, I can't remember.

Sometimes, high IgE is related to parasite infections and immune dysregulated

kids are at very high risk. I think you said that your husband is a gastro so

he would know about this.

Take care,

mom to CVIDer

[Guest guest]

Hi, Silke.

I am sorry to hear that you have been through so much with Johann.

My daughter's first sign of an immune deficiency was problems eating. She had

terrible GI problems (gut " stopped " for 10 days) and refused any food. She

would gag or throw up even with the mildest foods so I keep nursing and she got

90% of calories from breastmilk until she was nearly 2 years old. At 16 mos, I

tried to wean her and she got much sicker -- so I kept going and she lasted

another year without IVIG. She also developed chronic relapsing infectious

colitis which is now controlled with IgG replacement and a medical grade

probiotics (everything is closely monitored by her docs). She continues with

motility problems which is controlled with an osmotic cathartic, miralax (also

under doc guidance).

It sounds like your child's situation is more complicated than our's but the

similarities are uncanny.

Sorry that I can't give you advice but I will try to address some of your

questions:

" Is this frequent, food allergy due to IgA deficiency? Treatable? Will he

outgrow this? "

Some children can 'outgrow' their condition. Kids with Primary Immune

Deficiencies generally do not outgrow their condition. As you know, severe

allergies are part of an irregular immune reponse. Most of the children here

get better with proper management but the underlying problem remains.

" What will be his future? Which symptoms do your children have? "

Most of the kids have pulmonary, sinus, and/or gastro issues but this is not a

comprehensive list by any means. In our case, it was a gastroenterologist and

not our first immuno that wanted IVIG initiated with my daughter. Our second

immuno understood the GI-immune connection.

" Is there a higher risk that he will develop autoimmune diseases some day? "

Yes, it is possible if he has true immune irregularities.

" Why does he not suffer from recurrent infections? "

His infection history is not so clear...our PIDers may manifest things quite

differently. It would not be out of the question that some of his chronic

problems are related to recurrent infections -- but I don't really know. For

example, h.pylori, c.diff, and giardia, can cause all sorts of odd GI symptoms.

In the recent past, docs did not know that GI/stomach ulcers were not due to

" infections " or micro-organisms (e.g., h.pylori infections used to be treated

with anti-acids!..oops) but we now know that this is not true. My daughter had

a chronic relapsing GI infection that she could not overcome, due to her weak

immune function, and caused colitis. Possibility a motility disorder as well.

We had many false positive stool tests before having the test run correctly and

finding that her acute GI problem was related to an infection + poor immune

function + slow motility (though this is a bit of a chicken or egg problem).

Have you had tests run? Stool? Overgrowth? etc? Sorry, I can't remember.

Sometimes, high IgE is related to parasite infections and immune dysregulated

kids are at very high risk. I think you said that your husband is a gastro so

he would know about this.

Take care,

mom to CVIDer

[Guest guest]

Thanks, for your anwer.

Yes, there are similarities... .

Johann is on no therapy, the doc sais it wouldn´t be possible, as his

major problem is his IgA. Yes, we have had tons of stool lab work

done, always negative. Parasites etc. is the first thing they check

in Guatemala (tropical country, pretty common), and always negative,

even in Antigen-testing.

I jsut feel like we are stuck in something we don´t understand.

Actually, we started our first food trial a week ago, and since we

started, Johann is behaving very weird: very " mommy-asking " all the

time (he usually isn´t so), I can´t go to the bathroom without him.

Every 30seconds " mama? " . Creying a lot, without any obvious reason.

Yesterday he started with a different stool pattern, more mucous... .

Waking up at night a lot... . Is this a reaction? Or not? I don´t

know what to do. If he reacts his time again, we aren´t alowed to

give him anything else than his elemantal formula until he is 2 or

2.5 years old. I want to be sure of having a reaction or not before I

take this drastic decision.... .

So confusing... I´m so tired... . By the way, I am pregant again (6

months), does someone know if the second has a higher risk for this

disease?

Thanks for all help,

Silke

>

> Hi, Silke.

>

> I am sorry to hear that you have been through so much with Johann.

>

> My daughter's first sign of an immune deficiency was problems

eating. She had terrible GI problems (gut " stopped " for 10 days) and

refused any food. She would gag or throw up even with the mildest

foods so I keep nursing and she got 90% of calories from breastmilk

until she was nearly 2 years old. At 16 mos, I tried to wean her and

she got much sicker -- so I kept going and she lasted another year

without IVIG. She also developed chronic relapsing infectious

colitis which is now controlled with IgG replacement and a medical

grade probiotics (everything is closely monitored by her docs). She

continues with motility problems which is controlled with an osmotic

cathartic, miralax (also under doc guidance).

>

> It sounds like your child's situation is more complicated than

our's but the similarities are uncanny.

> Sorry that I can't give you advice but I will try to address some

of your questions:

>

> " Is this frequent, food allergy due to IgA deficiency? Treatable?

Will he outgrow this? "

> Some children can 'outgrow' their condition. Kids with Primary

Immune Deficiencies generally do not outgrow their condition. As you

know, severe allergies are part of an irregular immune reponse. Most

of the children here get better with proper management but the

underlying problem remains.

>

> " What will be his future? Which symptoms do your children have? "

> Most of the kids have pulmonary, sinus, and/or gastro issues but

this is not a comprehensive list by any means. In our case, it was a

gastroenterologist and not our first immuno that wanted IVIG

initiated with my daughter. Our second immuno understood the GI-

immune connection.

>

> " Is there a higher risk that he will develop autoimmune diseases

some day? "

> Yes, it is possible if he has true immune irregularities.

>

> " Why does he not suffer from recurrent infections? "

> His infection history is not so clear...our PIDers may manifest

things quite differently. It would not be out of the question that

some of his chronic problems are related to recurrent infections --

but I don't really know. For example, h.pylori, c.diff, and giardia,

can cause all sorts of odd GI symptoms. In the recent past, docs did

not know that GI/stomach ulcers were not due to " infections " or micro-

organisms (e.g., h.pylori infections used to be treated with anti-

acids!..oops) but we now know that this is not true. My daughter had

a chronic relapsing GI infection that she could not overcome, due to

her weak immune function, and caused colitis. Possibility a motility

disorder as well. We had many false positive stool tests before

having the test run correctly and finding that her acute GI problem

was related to an infection + poor immune function + slow motility

(though this is a bit of a chicken or egg problem).

>

> Have you had tests run? Stool? Overgrowth? etc? Sorry, I can't

remember. Sometimes, high IgE is related to parasite infections and

immune dysregulated kids are at very high risk. I think you said

that your husband is a gastro so he would know about this.

>

> Take care,

>

> mom to CVIDer

>

>

[Guest guest]

would appreciate any opinion, case info, experience… .

>

> Is this frequent, food allergy due to IgA deficiency? Treatable? Will

> he outgrow this? Why is he reacting always so late (1-2 weeks after

> food introduction)? What will be his future? Which symptoms do your

> children have? Is there a higher risk that he will develop autoimmune

> diseases some day? Why does he not suffer from recurrent infections?

> Is this logical, only food allergy as a symptom? I have thousands of

> questions, but step by step. I would love to read a few answers.

>

from Dale, Mom to Katy, grown daughter with CVID

Silke, I don't know the answers -- no one does. But, I wanted to share

with you that when Katy first started showing symptoms at age 11, they

were all gastro problems. She didn't start having chronic infections

until a couple of years later. But the gastro problems were terrible.

For 2 years we saw every gastro specialist around trying to figure out

what was going on. Everyone thought it was a food intolerance and I

should quit giving her " something " . We almost starved her to death --

yet she kept passing occult blood in her stool because her gut was so

raw. When they did the endoscope, the gastro said that he had never

seen the inside of a child be as red and raw as hers was - yet nothing

except acute inflammation showed up. When she started having other

infections we finally got a pediatrician who was ready to take us

seriously and put everything together. A simple blood test showed her

low across the board. They explained to me that the purpose of IgA in

the gut was to attach to food and " help " it through the gut. Without

IgA in the gut, then every molecule of food is treated like a foreign

object and is attacked. So, it didn't matter what food we put down

there, every cell in her gut is inflammed. Now, I don't know whether

that is what is happening in your case or not. Katy's IgE was

non-existant, so they didn't label hers allergies. We began treating

her gut as if she had colitis by using a low-residue diet and she did

better with that diet. Once we started IgG replacement, she began to

gradually expand her diet. Now she can eat just about everything.

She's still avoids real fatty foods and is shy around possible

contamination -- like left-overs, etc.

It doesn't sound to me like you are dealing with JUST IgA deficiency.

From your information, it sounds like you also have some IgG

deficiency, also. That could be because he's losing the IgG in the gut

through diarrhea -- or it could be a true deficiency. Has his response

to vaccinations been checked - does he build antibodies? That would be

important to know. If not, then the doctors may want to consider

replacement gamma globulin. However, he would need to be checked for

anti-IgA antibodies since his IgA level is absent. IgG replacement does

contain some IgA and can cause a nasty reaction if you have anti-IgA

antibodies.

I really recommend that you get in touch with IPOPI.org and see what

they can do to help you there. Here in the states I would recommend the

Immune Deficiency Foundation -- but overseas IPOPI.org is the correct

contact. They work closely with each other.

What about the future? Only God knows each of our children's path. Our

job as parents is to love them, fight for them, guard them to the best

of our ability and trust Him for the rest.

God bless you in your journey, keep asking questions and we'll do

whatever we can to help you get answers.

In His service,

dale

[Guest guest]

" Johann is on no therapy, the doc sais it wouldn´t be possible, as his major

problem is his IgA...started our first food trial a week ago...different stool

pattern, more mucous...we aren´t alowed to give him anything else than his

elemantal formula until he is 2 or 2.5 years old. I want to be sure of having a

reaction or not before I take this drastic decision.... "

Hi, Silke.

Sorry for the delay. If he does have an antibody problem and requires IgG

replacement, it could help. It helped mine to get over colitis. My daughter's

first sign of impending immune crash was, like Dale's child, gut problems. When

she started with mucus in her stool, we knew she was in big trouble. Our

general peds doc said that her upper respiratory infection was so severe that it

was dripping mucus into her gut. WRONG.

There are many reasons for mucus but, for my daughter, it was infectious

colitis. Her weak immune system could not overcome the infection and set off

autoimmune stuff in her gut and elsewhere. I agree with Dale that your son's

low IgA may only be part of the picture. Also, keep in mind that one child may

have IgG of 450 and have really bad clinical symptoms and another child may have

IgG of 350 and not appear to be so bad. You can't make decisions solely based

on numbers, you have to look at the big picture and, in your son's case, the

clinical picture does not sound good.

Click " research library " and then " physician algorithm " . It tells you immune

tests that need to be done for a complete work-up.

http://www.info4pi.org/

With your DH being a gastro, can he make a phone call to his colleagues for

help? This is one U.S. GI doc that helped us. Dr. Putnam:

http://www.cincinnatichildrens.org/svc/find-professional/p/philip-putnam.htm

The key is to consult with a GI doc that understands the immune system and can

decide whether or not the immune system is the issue. It also helps to have an

immunologist that understands how the immune system impacts the gut. You son's

problems may become more clear over time but, in the meantime, I encourage you

to keep fighting for him such as locating professionals that can help and

disease specific organizations.

I don't know what the answer is for your son. However, I am aware of many

children that are on elemental formulas and, IF they have food allergies it

helps immediately. The most popular in the U.S. seems to be Neocate. Some kids

are able to go off it later on but others can not...it just depends. In my

view, I don't think that using Neocate, Elecare, etc. is a drastic measure -- if

it helps the child to feel well and guarantees proper nutrition. **The problem

is when parents are told to use elemental formulas and the child does not feel

better or the real problem is ignored.**

Blessings,

mom to CVIDer

[Guest guest]

Thanks, , for your answer.

I´m already looking for an immunologist nearby where my parents live

(and where I will be while we stay here), but I can´t find one. I

will ask some doc´s here... .

Are there charts of normal values for IgG and IgA for children under

2 years?

I hope, we will find some answers.

Thanks and regards,

Silke

>

> " Johann is on no therapy, the doc sais it wouldn´t be possible, as

his major problem is his IgA...started our first food trial a week

ago...different stool pattern, more mucous...we aren´t alowed to give

him anything else than his elemantal formula until he is 2 or 2.5

years old. I want to be sure of having a reaction or not before I

take this drastic decision.... "

>

> Hi, Silke.

>

> Sorry for the delay. If he does have an antibody problem and

requires IgG replacement, it could help. It helped mine to get over

colitis. My daughter's first sign of impending immune crash was,

like Dale's child, gut problems. When she started with mucus in her

stool, we knew she was in big trouble. Our general peds doc said

that her upper respiratory infection was so severe that it was

dripping mucus into her gut. WRONG.

>

> There are many reasons for mucus but, for my daughter, it was

infectious colitis. Her weak immune system could not overcome the

infection and set off autoimmune stuff in her gut and elsewhere. I

agree with Dale that your son's low IgA may only be part of the

picture. Also, keep in mind that one child may have IgG of 450 and

have really bad clinical symptoms and another child may have IgG of

350 and not appear to be so bad. You can't make decisions solely

based on numbers, you have to look at the big picture and, in your

son's case, the clinical picture does not sound good.

>

> Click " research library " and then " physician algorithm " . It tells

you immune tests that need to be done for a complete work-up.

> http://www.info4pi.org/

>

> With your DH being a gastro, can he make a phone call to his

colleagues for help? This is one U.S. GI doc that helped us. Dr.

Putnam: http://www.cincinnatichildrens.org/svc/find-

professional/p/philip-putnam.htm

>

> The key is to consult with a GI doc that understands the immune

system and can decide whether or not the immune system is the issue.

It also helps to have an immunologist that understands how the immune

system impacts the gut. You son's problems may become more clear

over time but, in the meantime, I encourage you to keep fighting for

him such as locating professionals that can help and disease specific

organizations.

>

> I don't know what the answer is for your son. However, I am aware

of many children that are on elemental formulas and, IF they have

food allergies it helps immediately. The most popular in the U.S.

seems to be Neocate. Some kids are able to go off it later on but

others can not...it just depends. In my view, I don't think that

using Neocate, Elecare, etc. is a drastic measure -- if it helps the

child to feel well and guarantees proper nutrition. **The problem is

when parents are told to use elemental formulas and the child does

not feel better or the real problem is ignored.**

>

> Blessings,

>

> mom to CVIDer

>

>

[Guest guest]

Silke,

If the child had clinical symptoms and their numbers are " borderline " tests

should be repeated, extended (e.g., stage 2, 3 testing as shown by the JMF

algorithm), and you will need to make sure that the doctors do not minimize your

concerns. The " cut offs " are not black and white. If you suspect that there is

a problem, you absolutely need to find an immunologist that will monitor the

situation. Immunology is a new field so don't expect your average doctor to

know what is right for your child.

I hesitate to give you " normal " ranges because they are not so cut and dry.

Scientists go by deviations from " normal " and do not always depend on these

cut-offs. Each doc/lab may have slightly different " acceptable limits " . Also,

subclasses (IgG1, 2, 3, 4), antibody function, complement activation, T-cell

function, etc..may be useful indicators of immune status as well.

Some doctors/labs use < 18 as low for IgA for infants. < 70-80 is considered

low for adults.

Some doctors/labs use < 450 as low for IgG for 2-3 year olds

Again, the " cut offs " do vary a bit. Also, you can have normal IgG numbers but

the antibodies are not doing their job (immunizations did not " take " ). Looking

at quantitative IgG is helpful but it does not represent the whole picture -- it

is just a piece of the picture. It is very important to consider how your son

is doing in real life ( " clinical picture " ) and it helps to have more than one

data point (e.g., more than one blood draw) to see a pattern. It is not good

science to look at one single number and draw conclusions, particularly when the

child is not doing well and the number is " borderline " .

If the numbers and/or function is not good, the child needs aggressive medical

intervention or risks permenant organ damage. I don't want to scare you, but if

he has immune dysfunction you need to keep being careful.

Where do your parents live?

Keep us posted,

mom to CVIDer