Re: Desparate - What tests should I request? Fran?

July 5, 2006

, earlier today I wrote a response to Tammilee. similar question

presented regarding asking about tests etc. I will copy and paste for you to

review.. Let me know if it helps.

Tammielee,

Unfortunately the doctor should know what to look for with fevers.

especially recurrent ones. Checking initially over the course of a few fever

episodes a child's CBC with differential is important. This is a basic blood

test which will show if the WBC's are elevating as well as give a break down

of the differential cells. These are the " fighting " cells which usually show

a shift. Now this ALSO occurs with an infection however the doctor should be

LOOKING for a site where there MAY be an infection and when NONE is found

they should be looking to investigate further as they document fevers coming

periodically.

Also with this basic test the doc should look at a child's SED rate (also

called ESR) and their CRP which are inflammatory tests indicating something

chronic or something acute is occurring. Both of these usually elevate. Some

kids more than others.

These indicators all of them will return to NORMAL immediately after a fever

if the doc is thinking . If it is another fever disorder they may stay

elevated. This is WHY initially it is EXTREMELY important to have a

knowledgeable doctor to assist. Finding a specialist who may be an

immunologist, rheumatologist, or infectious disease who works with children

is so so important. It is also important that they rule out Cyclic

Neutropenia and other disorders which may ALSO present like fever disorders.

This is TOO much for a parent to know and ask for. and it is why when

advocating for a child it is important to network and ask questions.

Hopefully you can find someone here from NJ and get a name of a doctor,

pediatrician or specialist who is open to listening and learning if need be.

Once you have a doctor who sees a pattern. (YOU need to keep a log or

journal of fever onset and ending as well as ANY signs and symptoms).. You

also need to assert yourself. and research. Our group is great. there is a

wealth of information for parents who come to us with children who have

fevers coming on a regular basis.. In the file section and in the link

section there is a wealth of information.

is a DIFFICULT diagnosis. We see many doctors more recently fixing the

label after seeing periodic fevers .. And giving a dose of Prednisone that

cuts down the fever. THIS IS NOT THE WAY TO DIAGNOSE . We have had

DOZENS of children at this site, MIS-diagnosed for YEARS because of these

doctors.

The only way to know if it is . is if ALL disorders are ruled out.

including the genetic disorders.

Soooo, the road is usually a long one and the ideal is to find a doctor who

had dealt with these MANY conditions. And once you have labs documenting

these fevers and how they effect your child's blood studies. THE BEST thing

is to contact NIH and have your child get on the list for the research study

there. The doctors there are the MOST knowledgeable regarding PFS's and

other disorders which may present as PFS.

When my son was little and my pediatrician believed my documentation with

ph's fevers we were sent to a doctor 5 hours away in Florida at Shands.

This doctor was wonderful and we made the trip every month and stayed for 3

days in a hotel. We even ended up getting ambulenced up there and stayed for

almost 2 weeks where ph at just a year old underwent spinal taps and

bone marrow aspiration etc. The doc was wonderful and he himself went

monthly to the NIH in Bethesda MD. to learn and work with the best research

doctors.

There are SO many tests that need to be done. Your child's Immunoglobulins

need to be looked at. the child needs complement studies, they need to check

for unusual virus' that lay dormant. They need to check the SED rate and CRP

rates IN-between fevers to see if they remain elevated or they reduce to

normal.

A parent cannot take this on alone. A parent needs to work in conjunction

with a doctor who is familiar with all of this. Our pediatrician back in

Florida knew little about all of these diseases except for knowing the

names. but he was young and willing to work with the specialists we were

sent too.. He was wonderful.

So. YOU are at the right place. Research. the links and files and network

here.

I KNOW we have other New Jersey Members here who may help you find a good

doctor.

God Bless You and Welcome

Fran

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

July 5, 2006

Thank you soooo much, Fran. This email answers many

of my questions. I am still not sure about the

following " It is also important that they rule out

Cyclic Neutropenia and other disorders which may ALSO

present like fever disorders " . I guess my question is

what are the " other disorders " ? I don't feel

comfortable just accepting these doctors' word that

they have done appropriate tests. My ped. had never

heard of in twenty years of practice and the

I.D. doctor did two blood tests and gave us a

prescription for pred. I want to be equipped with a

list so that I can say " Have you tested for this, have

you tested for that? " when I see her ped. next week.

I just don't know how to go about making this list.

The studies I read are both reassuring and a bit

confusing but then I read the messages from this group

(of which I am so grateful to have found) and I just

don't feel like two blood tests are enough to confirm

a diagnosis. As you've probably guessed, I am

at my wit's end trying to figure it all out on my own.

Anyway, sorry to go on and on - I just don't know

what to do. I'm so confused!!!

Also, how important is genetic testing? It seems to

be the center of many discussions in this group - but

has never even been brought up as an option by our

doctors. Should it be something I insist upon?

Again, thank you for listening. I really do

appreciate your advice.

Best regards,

--- Fran Bulone <fbulone@...> wrote:

> , earlier today I wrote a response to

> Tammilee. similar question

> presented regarding asking about tests etc. I will

> copy and paste for you to

> review.. Let me know if it helps.

>

> Tammielee,

>

> Unfortunately the doctor should know what to look

> for with fevers.

> especially recurrent ones. Checking initially over

> the course of a few fever

> episodes a child's CBC with differential is

> important. This is a basic blood

> test which will show if the WBC's are elevating as

> well as give a break down

> of the differential cells. These are the " fighting "

> cells which usually show

> a shift. Now this ALSO occurs with an infection

> however the doctor should be

> LOOKING for a site where there MAY be an infection

> and when NONE is found

> they should be looking to investigate further as

> they document fevers coming

> periodically.

>

> Also with this basic test the doc should look at a

> child's SED rate (also

> called ESR) and their CRP which are inflammatory

> tests indicating something

> chronic or something acute is occurring. Both of

> these usually elevate. Some

> kids more than others.

>

> These indicators all of them will return to NORMAL

> immediately after a fever

> if the doc is thinking . If it is another fever

> disorder they may stay

> elevated. This is WHY initially it is EXTREMELY

> important to have a

> knowledgeable doctor to assist. Finding a specialist

> who may be an

> immunologist, rheumatologist, or infectious disease

> who works with children

> is so so important. It is also important that they

> rule out Cyclic

> Neutropenia and other disorders which may ALSO

> present like fever disorders.

>

> This is TOO much for a parent to know and ask for.

> and it is why when

> advocating for a child it is important to network

> and ask questions.

> Hopefully you can find someone here from NJ and get

> a name of a doctor,

> pediatrician or specialist who is open to listening

> and learning if need be.

>

> Once you have a doctor who sees a pattern. (YOU need

> to keep a log or

> journal of fever onset and ending as well as ANY

> signs and symptoms).. You

> also need to assert yourself. and research. Our

> group is great. there is a

> wealth of information for parents who come to us

> with children who have

> fevers coming on a regular basis.. In the file

> section and in the link

> section there is a wealth of information.

>

> is a DIFFICULT diagnosis. We see many doctors

> more recently fixing the

> label after seeing periodic fevers .. And giving a

> dose of Prednisone that

> cuts down the fever. THIS IS NOT THE WAY TO DIAGNOSE

> . We have had

> DOZENS of children at this site, MIS-diagnosed for

> YEARS because of these

> doctors.

>

> The only way to know if it is . is if ALL

> disorders are ruled out.

> including the genetic disorders.

>

> Soooo, the road is usually a long one and the ideal

> is to find a doctor who

> had dealt with these MANY conditions. And once you

> have labs documenting

> these fevers and how they effect your child's blood

> studies. THE BEST thing

> is to contact NIH and have your child get on the

> list for the research study

> there. The doctors there are the MOST knowledgeable

> regarding PFS's and

> other disorders which may present as PFS.

>

> When my son was little and my pediatrician believed

> my documentation with

> ph's fevers we were sent to a doctor 5 hours

> away in Florida at Shands.

> This doctor was wonderful and we made the trip every

> month and stayed for 3

> days in a hotel. We even ended up getting ambulenced

> up there and stayed for

> almost 2 weeks where ph at just a year old

> underwent spinal taps and

> bone marrow aspiration etc. The doc was wonderful

> and he himself went

> monthly to the NIH in Bethesda MD. to learn and work

> with the best research

> doctors.

>

> There are SO many tests that need to be done. Your

> child's Immunoglobulins

> need to be looked at. the child needs complement

> studies, they need to check

> for unusual virus' that lay dormant. They need to

> check the SED rate and CRP

> rates IN-between fevers to see if they remain

> elevated or they reduce to

> normal.

>

> A parent cannot take this on alone. A parent needs

> to work in conjunction

> with a doctor who is familiar with all of this. Our

> pediatrician back in

> Florida knew little about all of these diseases

> except for knowing the

> names. but he was young and willing to work with the

> specialists we were

> sent too.. He was wonderful.

>

> So. YOU are at the right place. Research. the links

> and files and network

> here.

>

> I KNOW we have other New Jersey Members here who

> may help you find a good

> doctor.

>

> God Bless You and Welcome

>

> Fran

>

> Fran A Bulone

> Mom to ph 7 yrs old

> Waxhaw, NC

>

> Owner & Moderator Group

> <>

>

> [Non-text portions of this message have been

> removed]

>

__________________________________________________

July 5, 2006

look for " Recurrent Fevers in Children: Differential Diagnosis " in

the links section - it has a great table with many of the other

disorders.

>

> > , earlier today I wrote a response to

> > Tammilee. similar question

> > presented regarding asking about tests etc. I will

> > copy and paste for you to

> > review.. Let me know if it helps.

> >

> > Tammielee,

> >

> > Unfortunately the doctor should know what to look

> > for with fevers.

> > especially recurrent ones. Checking initially over

> > the course of a few fever

> > episodes a child's CBC with differential is

> > important. This is a basic blood

> > test which will show if the WBC's are elevating as

> > well as give a break down

> > of the differential cells. These are the " fighting "

> > cells which usually show

> > a shift. Now this ALSO occurs with an infection

> > however the doctor should be

> > LOOKING for a site where there MAY be an infection

> > and when NONE is found

> > they should be looking to investigate further as

> > they document fevers coming

> > periodically.

> >

> > Also with this basic test the doc should look at a

> > child's SED rate (also

> > called ESR) and their CRP which are inflammatory

> > tests indicating something

> > chronic or something acute is occurring. Both of

> > these usually elevate. Some

> > kids more than others.

> >

> > These indicators all of them will return to NORMAL

> > immediately after a fever

> > if the doc is thinking . If it is another fever

> > disorder they may stay

> > elevated. This is WHY initially it is EXTREMELY

> > important to have a

> > knowledgeable doctor to assist. Finding a specialist

> > who may be an

> > immunologist, rheumatologist, or infectious disease

> > who works with children

> > is so so important. It is also important that they

> > rule out Cyclic

> > Neutropenia and other disorders which may ALSO

> > present like fever disorders.

> >

> > This is TOO much for a parent to know and ask for.

> > and it is why when

> > advocating for a child it is important to network

> > and ask questions.

> > Hopefully you can find someone here from NJ and get

> > a name of a doctor,

> > pediatrician or specialist who is open to listening

> > and learning if need be.

> >

> > Once you have a doctor who sees a pattern. (YOU need

> > to keep a log or

> > journal of fever onset and ending as well as ANY

> > signs and symptoms).. You

> > also need to assert yourself. and research. Our

> > group is great. there is a

> > wealth of information for parents who come to us

> > with children who have

> > fevers coming on a regular basis.. In the file

> > section and in the link

> > section there is a wealth of information.

> >

> > is a DIFFICULT diagnosis. We see many doctors

> > more recently fixing the

> > label after seeing periodic fevers .. And giving a

> > dose of Prednisone that

> > cuts down the fever. THIS IS NOT THE WAY TO DIAGNOSE

> > . We have had

> > DOZENS of children at this site, MIS-diagnosed for

> > YEARS because of these

> > doctors.

> >

> > The only way to know if it is . is if ALL

> > disorders are ruled out.

> > including the genetic disorders.

> >

> > Soooo, the road is usually a long one and the ideal

> > is to find a doctor who

> > had dealt with these MANY conditions. And once you

> > have labs documenting

> > these fevers and how they effect your child's blood

> > studies. THE BEST thing

> > is to contact NIH and have your child get on the

> > list for the research study

> > there. The doctors there are the MOST knowledgeable

> > regarding PFS's and

> > other disorders which may present as PFS.

> >

> > When my son was little and my pediatrician believed

> > my documentation with

> > ph's fevers we were sent to a doctor 5 hours

> > away in Florida at Shands.

> > This doctor was wonderful and we made the trip every

> > month and stayed for 3

> > days in a hotel. We even ended up getting ambulenced

> > up there and stayed for

> > almost 2 weeks where ph at just a year old

> > underwent spinal taps and

> > bone marrow aspiration etc. The doc was wonderful

> > and he himself went

> > monthly to the NIH in Bethesda MD. to learn and work

> > with the best research

> > doctors.

> >

> > There are SO many tests that need to be done. Your

> > child's Immunoglobulins

> > need to be looked at. the child needs complement

> > studies, they need to check

> > for unusual virus' that lay dormant. They need to

> > check the SED rate and CRP

> > rates IN-between fevers to see if they remain

> > elevated or they reduce to

> > normal.

> >

> > A parent cannot take this on alone. A parent needs

> > to work in conjunction

> > with a doctor who is familiar with all of this. Our

> > pediatrician back in

> > Florida knew little about all of these diseases

> > except for knowing the

> > names. but he was young and willing to work with the

> > specialists we were

> > sent too.. He was wonderful.

> >

> > So. YOU are at the right place. Research. the links

> > and files and network

> > here.

> >

> > I KNOW we have other New Jersey Members here who

> > may help you find a good

> > doctor.

> >

> > God Bless You and Welcome

> >

> > Fran

> >

> > Fran A Bulone

> > Mom to ph 7 yrs old

> > Waxhaw, NC

> >

> > Owner & Moderator Group

> > <>

> >

> > [Non-text portions of this message have been

> > removed]

> >

>

> __________________________________________________

>

July 5, 2006

and Newer members,

There are many disorders which need to be ruled out. from JRA to lupus to

leukemia. and more. Too many for ANY " LAY " person to know. Too many for me

to have known and I was a VERY SEASONED (never say old!! LOL) RN who was

very well rounded and educated.. If your doctor is NOT familiar with the

various disorders which can cause the symptoms including fever, etc. then

he/she should realize they NEED to send you to a specialist. There is no way

I am comfortable giving a SPECIFIC list of disorders which need to be ruled

out. That specialist MUST also be current with the PFSs. ALL of them.

I am comfortable informing you and the other members who have doctors

diagnose a child with without doing the adequate testing.. To find a

specialist who is willing to make an accurate diagnosis.

There are TOOOOOOOOOOO many people coming to this list simply accepting the

diagnosis of from a physician because he tells them he/she is familiar

with the disorder. It CANNOT be diagnosed UNLESS other disorders are ruled

out. Parents here in this group have the opportunity to educate themselves

as you are doing. and network.

PLEASE PLEASE.. ALL new members, Post your information to this group. Where

you live.. And see if there is a good doctor who is open to diagnosing a

fever disorder the correct way. Not by giving a dose of Prednisone!!

I have been reading emails posted this week to this group. (NOT yours

) and I am AGAIN seeing parents " accept " the word of the doctors as

if they are GOD! They are NOT God and unless extensive testing is done to

rule out many disorders. and genetic testing IS done. there CANNOT be a

diagnosis of . Aside from this when the original study was done

from 1987-1997 MANY if not MOST of the genetic mutations which HAVE NOW been

isolated were NOT EVEN IDENTIFIED. The FMF genes were identified in the late

90's and the NOMID mutations were isolated in the 2001-2002. TRAPS mutations

were also isolated in the late 90's early 2000's.. SO if you read up on

much of the information was GATHERED and PUBLISHED BEFORE the

isolation of the genetic fever disorders.

Doctors who ARE CURRENT with ALL of the Periodic Fever Disorders will advise

to do EXTENSIVE testing including genetic testing.

Lori Todaro has walked this path for about the same amount of YEARS as I

have and she can stress the same points I am stressing. My son along with

many children were MIS-diagnosed because of lack of genetic testing.,. If

your child IS mis-diagnosed as OFTEN as it happens and HAS a specific

genetic disorder, they may be treated incorrectly and end up in kidney

failure or blind.

I am not trying to frighten people however I am trying to encourage parents

and caregivers to ASSERT yourself, read and educate yourself and network...

Find doctors who ARE familiar with the disorder. and find a pediatrician who

will work with that doctor. And know that if you live in the US.. We are

BLESSED with a research facility in Bethesda Md, called the NIH... (NIH.gov)

where they are identifying PFS mutations consistently.. And where the MOST

current research on PFS, is currently going on.

God Bless,

Fran

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

July 6, 2006

Are some of you really finding doctors (other than at NIH) who will do all

of the genetic testing? And how are you paying for it (it doesn't sound like

insurance would be much help)? My son's infectious diseases specialist is

one of the authors of the " Differential Diagnoses " article mentioned earlier

in this thread, and she certainly seems to know what she is doing, but she

does not recommend doing all the genetic testing for him. She tested for

cyclic neutropenia and immune system levels (especially IgD for HIDS), but

that is all the testing she wants to do and she has given him the

label. She does support our interest in going to NIH (we applied four months

ago), but she is not ordering any genetic testing herself and does not seem

to think it is necessary for the diagnosis in his case.

-

July 6, 2006

Many of the genetic studies are NOT covered by conventional Insurance providers.

This is why we are lobbying in DC....perhaps this is why she has not asked for

more studies.

Klooster <andreaklooster@...> wrote: Are some of you

really finding doctors (other than at NIH) who will do all