Re: To those of you who have been doing this longer....

[Guest guest]

,

Hang in there. I know, easier said than done. So I don't have to go

through our whole story here.. I will give you the link to our family web

page www.shwachman.50megs.com <http://www.shwachman.50megs.com/> I have

the boys' diagnosis stories there. It was a journey. My went an

entire year and only gained 4 ounces-from age 6mos to 18 moths he gained 4

ounces! Both and ph were diagnosed Failure to Thrive. We've been

there twice. I would push for more testing. why isn't she gaining? Does

she have fat malabsorption? And if she does, are they looking into CF or

other diseases. We went in circles and was not diagnosed until he was

2-- they thought he wasn't gaining b/c of a milk allergy or this or that

allergy, we took him off of dairy and went with soy. He ate like a horse

and never gained. Have you had your questions answered? That would be

how I would decide if I was going to go for a second opinion or not...

It does get easier and your faith gets stronger. At least that is what

happened for hubby and me. You'll start to count your blessings and realize

that the small things that used to frustrate you don't bother you so much

because your priorities have changed. The stains and spills in life just

don't seem to be a big deal. the joys are sweeter. Because you know how

quickly life can change and how bad things can be, the happiness and joy

will be that much greater.

Our normal is just different. We will always have infections,

hospitalizations, bone marrow biopsies, and the lot.. but it doesn't have

to define your life. In time, you will learn to have a " normal " life-a

normal life for you and your family. We are not defined by our

diseases-neither are our children. They are more than that and I truly

believe they can overcome the obstacles in their lives. My boys amaze me

every day with their fortitude and courage. They play just like " normal "

kids and do things " normal " kids do. We have never treated them like they

were not normal. We have always let them try to do whatever they want to do

and have not allowed them to let their disease get in the way of their

lives. Sure, they have to be hospitalized, they get infections, but I don't

want them to think they can't have a normal life just because of a setback

here or there, etc.

Think of the artists who have lost arms and/or legs and then learned to

paint with their feet or their mouth.

Anyway- I think the hardest part is not having a definitive diagnosis and

treatment plan. Once you get that, you navigate the world and find your

" normal " .and the thoughts of the disease will still be there, the worries

will still be there, but you learn to live with them and deal with

them..they won't be at the front of your mind each day. Does that make

sense?

Peace Be With You,

~Pattie~

Piedmont Triad, NC

Mom to , age 12 & healthy, , age 9, Shwachman-Diamond Syndrome

and ph, age 8, Shwachman-Diamond Syndrome

Our family website: www.shwachman.50megs.com

[Guest guest]

Yes, it gets easier....much easier!!! It probably took 2 years from

diagnosis to feeling more comfortable. Your heart still jumps when they get

sick. And just this week Rebekah managed to flip her port upside down. We

couldn't access it and ended up see the surgeon who put the port in so that

he could flip it back into place and check it out. And, honestly, it wasn't

all that stressful. Sometimes, I even forget if it is treatment week. Hang

in there!!!

Pam

mom to 4

Rebekah, 6, CVID plus??

Diagnosed now for 4 years

To those of you who have been doing this longer....

Does this get easier? Does it ever get to the point where you don't

feel like this disease, and the infections, doctors and treatment

decisions consume your life and your thoughts? I feel so lost and

frustrated. I am responsible for these decisions about my

daughter's health and care, and I don't know what to do. My husband

supports whatever I decide she needs, but he has so much on his

plate right now he can't handle all of this.

[Guest guest]

In a message dated 3/6/2006 10:24:56 AM Pacific Standard Time,

jmfritze@... writes:

Does this get easier? Does it ever get to the point where you don't

feel like this disease, and the infections, doctors and treatment

decisions consume your life and your thoughts?

____________________________________________________________________________

,

Yes, for us it did!! For many years, however, I felt just like you do

now. My son had a new infection every two to three weeks.

When it came to IVIG, I knew it was time. His quality of life was almost

nonexistent. I decided that I would approach the treatments with a

wait-and-see attitude. But it didn't take me long to change my mind, Bri has

not had one

single ear infection since starting his IVIG. He has had a few sinus

infections, but we can live with that.

I even forget which antibiotics he takes these days!! Someone asked me

earlier on this list and it took me about 10 minutes to remember that he usually

takes Omnicef for strep. It used to be that the names of meds would just roll

off my tongue not to mention keep running around my brain constantly. It can

be exhausting, but you are on the right path.

Hang in there--

Sandi, Mom to --age 13--CVID

[Guest guest]

" I would push for more testing. why isn't she

gaining? Does

> she have fat malabsorption? And if she does, are they looking

into CF or

> other diseases. "

They are testing her again for CF on the 13th, see the doc on the

22nd. Is FTT ever just from the PID or is there almost always

something else behind it? Like fat malabsorption? Her allergist

seems unconcerned, though he was the one to originally tell me we

needed to watch her weight for signs of more problems. Would these

tests usually be ordered by the immunologist, GI, allergist?

I looked at your family website, what precious boys! The short

stature that goes with the diagnosis, when did that begin (though

they look healthy in their pictures!) Someone I spoke to had

mentioned that disorder as a possiblity for Ana, so I was curious.

Thanks for the encouragement.

Fritze

Mom to Ana, 13 mo IgG def, FTT, milk allegy and...???

[Guest guest]

When they do the CF test, are they going to do the sweat chloride again? Or

are they going to have the genetic test (blood)-usually sent to Ambry

genetics. We had 2 sweats on and also send his blood to be checked

for CF. Does your daughter also have neutropenia? My boys were first

diagnosed because of their failure to thrive and having neutropenia. There

can be many reasons for FTT, though. In SDS and Cf it is because of

pancreatic insufficiency. The PI in CF is from a different cause than in

SDS-SDS is b/c of fatty replace of the acinar cells. The GI did the 72 hr

fecal fat tests for us and our hematologist ran the serum trypsinogen and

serum isoamylase tests. Any doctor could do a CBC checking for

neutropenia.

So they have actually mentioned SDS to you before? That is amazing! Do

you know why they thought of it? Because of the FTT ?

and ph were both completely off the growth charts.once they started

enzyme replacement therapy (pancreatic enzymes) they started to gain weight

and grow normally. Even though they have the same disease, they both are

different. ph seems to gain weight better and not grow as well in

height..where is older than ph and weighs 7 pounds less and grows

better in height. They are back on the growth charts and doing fairly

well-they are small for their age, but not quite like they were before

enzymes.

At one point they tested 's immunoglobulins and they were low-when we

moved the hem here re-tested and then sent us to immunology. Later J was

tested and the rest is history. They still don't know if their

immunoglobulins being low is part of SDS or if they drew the wrong straw

twice.. Most think they are separate issues-BUT there are SDS articles

where they mention others SDSers with IgG deficiencies and subclass

deficiencies, etc...

Peace Be With You,

~Pattie~

Piedmont Triad, NC

Mom to , age 12 & healthy, , age 9, Shwachman-Diamond Syndrome

and ph, age 8, Shwachman-Diamond Syndrome

Our family website: www.shwachman.50megs.com

They are testing her again for CF on the 13th, see the doc on the

22nd. Is FTT ever just from the PID or is there almost always

something else behind it? Like fat malabsorption? Her allergist

seems unconcerned, though he was the one to originally tell me we

needed to watch her weight for signs of more problems. Would these

tests usually be ordered by the immunologist, GI, allergist?

I looked at your family website, what precious boys! The short

stature that goes with the diagnosis, when did that begin (though

they look healthy in their pictures!) Someone I spoke to had

mentioned that disorder as a possiblity for Ana, so I was curious.

Thanks for the encouragement.

Fritze

Mom to Ana, 13 mo IgG def, FTT, milk allegy and...???

_____

[Guest guest]

jmfritze wrote:

> Does this get easier? Does it ever get to the point where you don't

> feel like this disease, and the infections, doctors and treatment

> decisions consume your life and your thoughts?

Yes. It does. Once you get the diagnosis and you start to see your

daughter growing and laughing and learning and running and skinning her

knees and whooping and hollering with all the other kids -- you will

look back at how scary it all was in the beginning and breathe a great

big sigh of releif. But you know what else I've learned. We don't

appreciate light until we've had darkness. By that I mean that as you

watch her run and play and do things for the first time -- you will

appreciate it more and be more grateful to God for the opportunity to

see it. I cherished every single day with Katy -- even when the

teenaged years got really, really stinky -- just because I was so glad

that she was alive and kicking (even when it was me she was kicking!)

I feel so lost and

> frustrated. I am responsible for these decisions about my

> daughter's health and care, and I don't know what to do.

One of your posts said that you had located an immunologist in your area

and got in to see him recently, are you feeling that you cannot trust

him? I was under the impression that you liked him and felt you could

trust him. We chose to put our basic care for Katy into the hands of

our pediatrician. We, in fact, wrote out a letter signed by Katy and

and me that just said, " We don't know how to deal with all the

different specialists. We really don't want " specialists " treating us.

We want a " doctor that loves Katy " treating Katy. Would you be that

special doctor and help us determine what to do and what not to do? "

She said she felt honored to journey with us through this great unknown.

That took a lot of pressure off of me. I talked everything over with

her after that and didn't make any decisions without clearning it with

her. I chose to trust her because she invested so much personal time

into trying to figure out what was wrong with Katy and why a perfectly

healthy kid would suddenly get sick and stay sick. She took a personal

interest and we decided to let her be the one to make the hard

decisions. It was a good choice for us. (Now we had to leave Katy's

first pediatrician in order to find this one -- sometimes it takes a few

trial and error appointments before you find someone that not only cares

but also is willing to learn new stuff.

My husband

> supports whatever I decide she needs, but he has so much on his

> plate right now he can't handle all of this.

It's really hard being the Daddy for a sick kid. I had one Dad tell me

how hard it was to not only be a daddy for the kid, but a helper to the

Mom and help hold her all together. He was terrified that he would lose

both his kid and his wife because of all the stress. Give that hubby a

good hug tonight and tell him you appreciate his listening ears and his

patience as you sort this all out.

>

> How important is it to get a second opinion? I have read here that

> once on IGIV, if Ana needs further testing, or we decide to get a

> second opinion, she will have to come off of it for 3 months before

> doing anything.

There are some very basic guidelines here, but one size does not fit all

on this list (or any other). From your posts I think I remember that

Ana has a low IgG count with various subclasses moving around at

different times. If the IgG is low, there's only one known treatment --

that's IgG replacement -- either IVIG or SCIG. Getting a second opinion

will not change that. But is very, very young. My hope is that

somewhere between age 2 or 3, she will suddenly start producing her own

IgG. Some doctors like to trial kids off -- meaning take them off for a

period of 3 months and see what level of IgG she can produce on her own.

Dr. Lederman of s Hopkins disagrees with that if there is a clear

diagnosis of low IgG. He says there is no reason to ever trial off.

Probably sometime in the age 3 area, if Ana is doing really, really

well, your doctor will recommend that you try to spread the IVIG out

between doses and see if she can stay well. It's another way of

" trialing off " without committing to 3 months.

The testing that will be affected by giving IVIG is Ana's response to

vaccinations. If you give IVIG and then check titers -- then it will

look like she's been vaccinated -- right? So that needs to be done

prior to starting IVIG. The other tests that a Immunologist would

probably want to do would check her T-cells and complement system.

Those tests can be run at any time and are not disrupted by IVIG as far

as I know.

So, with Ana, we know 2 things -- she's low on IgG and she's got a

stinky clinical picture. I can see nothing to be gained by prolonging

the wait in order to see a specialist. If you trust this immunologist

and his recommendation is IVIG -- I would go with it.

Now, having every patient seen by a tertiery doctor (third level -- an

immunologist who specializes in nothing but PID) is one goal of IDF.

It's a good goal -- but it's not always feasible. Sometimes you have to

go with what you've got. But that's a decision only the parents can

make. I'm with you in hating to see Ana have to wait to see another

specialist at this point.

When do I absolutely recommend a 2nd opinion with a specialist. If

after IVIG your child continues to have problems and doesn't have a

great quality of life -- absolutely. If there is not a clear cut

diagnosis -- in other words -- the IgG looks fine in number but not in

quality. Or if there are other possible complications -- neutropenia,

neurological problems, cardiac problems, other genetic problems, etc.

Any of you who wrestled with decisions

> like this, what did you and what would you do now, if Ana was your

> daughter? Thank you.

I hope that helps a little. I can't give you medical advice. And Ana

is NOT my child. But know that God has given you this precious little

one and He will give you the wisdom to raise her wisely. That's why God

gave children parents!

I do want you to learn everything possible about IVIG and about Ana's

diagnosis so that you don't allow some doctor who doesn't know what they

are doing keep her sick and not performing as well as she possibly

could. We want the absolute best for her life. And sometimes that

means continuing to search and sometimes that means going with what you

have.

I'll be praying for you as you reach your decision.

And, , I was so scared when they told me the name of Katy's

diagnosis and we checked the library and found out how very serious it

was -- I kept watching her every second to see if she was dying.

Unfortunately, Katy was 13 and it nearly drove her insane!!!!! At least

Ana doesn't fuss when you hug her and hold her close and cry. It's okay

to feel scared. We've all been there. But, it does get easier. I say

this diagnosis just enlarges Mother's hearts (it certainly grows the

prayer life!).

In His service,

Dale

[Guest guest]

" I hope that helps a little. I can't give you medical advice. And

Ana

> is NOT my child. But know that God has given you this precious

little

> one and He will give you the wisdom to raise her wisely. That's

why God

> gave children parents! "

Dale and everyone else,

This helps more than a little. Though I can't promise I won't be

back here doing this all over again in a week or so. Some questions

you have asked...

-Ana's neutrophils are almost always high...so that is good right?

-I do think I trust this immunologist, I just lapse on trusting

myself. I just want to make sure I do what is best, and right for

her. But you all are helping me get there!

" I chose to trust her because she invested so much personal time

into trying to figure out what was wrong with Katy and why a

perfectly

healthy kid would suddenly get sick and stay sick. "

We had found a doc like this. She is the one who humored me by

checking Ana's system at six months. She humored me in a lot of

ways, always to come back that I was right. Unfortunatly we moved,

and I have often thought of going back to her, despite the hour

drive. But I just seems silly when we seem to run to the doctor

every other day with a new infection. Hopefully we will find a doc

like that on this side of the cities. I think this immunologist is

trustworthy though.

> > Give that hubby a

> good hug tonight and tell him you appreciate his listening ears

and his

> patience as you sort this all out.

I hug him and thank him every day for standing behind my " mommy

instinct! "

> Dr. Lederman of s Hopkins disagrees with that if there is a

clear

> diagnosis of low IgG. He says there is no reason to ever trial

off.

> Probably sometime in the age 3 area, if Ana is doing really,

really

> well, your doctor will recommend that you try to spread the IVIG

out

> between doses and see if she can stay well. It's another way of

> " trialing off " without committing to 3 months.

This is exactly what I was wondering. Thank you. I just didn't

understand how long we were talking about, and how they go about

checking her normal system. Knowing it will possibly be until three

or so I can handle. I just needed to know.

> " The testing that will be affected by giving IVIG is Ana's

response to

> vaccinations. If you give IVIG and then check titers -- then it

will

> look like she's been vaccinated -- right? So that needs to be

done

> prior to starting IVIG. The other tests that a Immunologist

would

> probably want to do would check her T-cells and complement system.

> Those tests can be run at any time and are not disrupted by IVIG

as far

> as I know. "

This makes sense now too. We are waiting on her titer results.

They have checked her T-cells and her helper cells were normal. But

I didn't understand the rest of them. Have to run that one by the

doc on the 22nd. I'm not sure what the complement system is or if

they have tested that, but I will ask.

Is there a guide to understanding all of the lab work. They gave me

a print out of everything she has had done over the last year, and I

understand the basics, but I'm not understanding a lot of what is

low or high. So if there is a link out there to an

explanation...please pass it along!

What a Godsend you all are. With such problems in everyone's life,

thank you for taking the time to respond.

One last question...I know there are lists out there that rank the

top hospitals in the nation for different specialties, does anyone

know where I can find them? Thanks.

Fritze

Ana, 13 mo, IgG, FTT, milk allergy, my little mystery girl

[Guest guest]

>

> jmfritze wrote:

> > Does this get easier? Does it ever get to the point where you

don't

> > feel like this disease, and the infections, doctors and

treatment

> > decisions consume your life and your thoughts?

Absolutely, without doubt and unequivocally yes, it gets lots

better!!! It becomes another part of your life to be fit in and

around life itself. It starts with a conscious choice to not let it

interrupt every aspect of yours or your children's lives by making

time to do other things. Eventually the disease and the life that

comes with it does become routine. Savor the extra time it gives

you with your kids and you will see the blessings in this disease

rather than the frustrations. In time this will not be your

disease. It will be up to your child to take it with him or her

where ever they go. Once they take charge you need to have a life

of your own. Trust me, it comes all too soon. My kids are now in

college. The worry does not go away as being a mother does not

end. I have to trust that I've raised them to take control of their

health and let them go. That was never more apparent than last week

when my oldest decided to switch to SCIG. I had been doing his IV

for 16 years. Over the past year, it was such a pleasure to do. I

looked forward to every IV day because it meant he came home from

college and spent time with me. That set time now comes to an end

because he has taken charge of his disease. We have developed a

very close relationship because of his disease. I know we will just

make other excuses to see each other and spend time together.

However, the sudden end of the routine brought emotions I wasn't

expecting. So my advice is to see the blessings in the disease.

Teach the kids how to manage what they can as they grow older. Most

importantly, make the best of the time you get to spend with your

kids. It's an opportunity to develop a loving and lasting

relationship.

Kris McFalls

[Guest guest]

, It was me that mentioned SDS to you...It does get easier....I

went through a period of time when I wanted to know the " exact

diagnosis " .....but after watching suffer...and be

miserable...trying something to make him better was where we ended

up...but that was two years later.....Do what is in your heart.....Get

what answers you can....then make the best decision that you can.

You can always call me again...

Home is 7016638959, cell 7012204034

I work 12 to 5 today and we are infusing tonight.

Re: To those of you who have been doing this

longer....

" I would push for more testing. why isn't she

gaining? Does

> she have fat malabsorption? And if she does, are they looking

into CF or

> other diseases. "

They are testing her again for CF on the 13th, see the doc on the

22nd. Is FTT ever just from the PID or is there almost always

something else behind it? Like fat malabsorption? Her allergist

seems unconcerned, though he was the one to originally tell me we

needed to watch her weight for signs of more problems. Would these

tests usually be ordered by the immunologist, GI, allergist?

I looked at your family website, what precious boys! The short

stature that goes with the diagnosis, when did that begin (though

they look healthy in their pictures!) Someone I spoke to had

mentioned that disorder as a possiblity for Ana, so I was curious.

Thanks for the encouragement.

Fritze

Mom to Ana, 13 mo IgG def, FTT, milk allegy and...???

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a Primary Immune Deficiency. Opinions or medical advice stated here are

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