NIH

March 15, 2006

they did that to me too.. too soon to get arrangements .. i dont know why they

do that.. i had to rebook from the 7th to the day after easter monday.. at that

time i could have done the 23rd if she had offered lol

NIH

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and the

information from his rheumatologist must have just arrived at N.I.H. this

week.

We are to arrive June 12th and then he will be seen on the 13th at 8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

That is so great for you!! I hear you on excited and being scarred. Boy if you

took the 23rd we are just missing each other that is too bad.Ellyn I sent mine

in Feb something and a WEEK later they called me so I know how you are feeling.

But I am so HAPPY for you guys.

I was hoping someone would be there the same time we were there too but I

haven't heard of anyone else going that time. sent me a email saying that

Nicolas has alot more consults with different doctors and test and she is still

working on more what ever that means.

Nicolas I got him from school yesterday and he looked horrible and he said he

was feeling real dizzy and like he was going to vomit. Last night his glands

were swollen, headache, feverish, fatigued and very nausea. So here we go again.

Does any one else have their kids getting dizzy and stuff? My poor son I want

answerer's to why he is going through this, I want to help him.

CONGRATULATION

Sacora mom of Nicolas 12

ellyn.trickey@... wrote:

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and the

information from his rheumatologist must have just arrived at N.I.H. this

week.

We are to arrive June 12th and then he will be seen on the 13th at 8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

I think it is awesome that you guys get to go to the NIH.

Thank goodness they are looking in to this illness. Maybe they'll get

to the bottom of it someday and determine what causes it and find a

cure.

Dana

_____

From: [mailto: ] On Behalf Of

Bisson

Sent: Wednesday, March 15, 2006 10:21 AM

Subject: Re: NIH

they did that to me too.. too soon to get arrangements .. i dont know

why they do that.. i had to rebook from the 7th to the day after easter

monday.. at that time i could have done the 23rd if she had offered lol

NIH

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses

when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and

the

information from his rheumatologist must have just arrived at N.I.H.

this

week.

We are to arrive June 12th and then he will be seen on the 13th at

8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

I know says when someone cancels they try to fill that up so maybe that

is why and if you could do that one I would call and see if you can take

that appointment.

Bisson <proudmom@...> wrote: they did that to me too.. too soon

to get arrangements .. i dont know why they do that.. i had to rebook from the

7th to the day after easter monday.. at that time i could have done the 23rd if

she had offered lol

NIH

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and the

information from his rheumatologist must have just arrived at N.I.H. this

week.

We are to arrive June 12th and then he will be seen on the 13th at 8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

Hi Dana

My son Nicolas went one year that he got sick but not alot and now that year

has gone past he is sick more then he has ever been ill. So that is a very good

question to ask.

" Brown, Dana " <browndan@...> wrote:

I think it is awesome that you guys get to go to the NIH.

Thank goodness they are looking in to this illness. Maybe they'll get

to the bottom of it someday and determine what causes it and find a

cure.

Dana

_____

From: [mailto: ] On Behalf Of

Bisson

Sent: Wednesday, March 15, 2006 10:21 AM

Subject: Re: NIH

they did that to me too.. too soon to get arrangements .. i dont know

why they do that.. i had to rebook from the 7th to the day after easter

monday.. at that time i could have done the 23rd if she had offered lol

NIH

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses

when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and

the

information from his rheumatologist must have just arrived at N.I.H.

this

week.

We are to arrive June 12th and then he will be seen on the 13th at

8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

Ellyn,

The process for the past years at NIH was getting slower and slower...

because one nurse Janet ran the entire department... MUCH more than

fever disorders.

When she retired Beverly took over for a year or so... and they had to

divide the group into adults and pediatrics.

Now the department is divided.

There is an adult nurse for the department, Bev.

There is a pediatric nurse, .

There is a coordinator for them Rhonda.

It has taken YEARS but it seems they are finally catching up.

The HORRIFIC wait for NO reason but being over worked.... has finally bit

the bullet.

Most members here will tell you it use to take 5 months to about 10 months

to hear from Janet. Once Bev got out of her learning curve it took about 4-6

months.

Now that the department has divided... it is taking even less time.

The process SHOULD be swift. The NIH SHOULD ALREADY have each child or

adult's PERTINENT medical records with a consultation letter. From there

with the teams they have, an individual should be scheduled at the MOST

within 2 months of receiving the paperwork.... It should actually be about 4

weeks for the call. If they have a cancellation people can be " squeezed " in

to be seen... if they are available. When we were recently switched from

Periodic Fever study to the NOMID study, Dr. Kastner knew ph was getting

worse symptoms and he asked to get us up sooner. We just could not do

it because I have an elderly disabled Mother living with me and 3 dogs....

So we chose the later date.

Not sure why you are startled? Keep the faith... you are going to a place

that is WONDERFUL and has SOOOO much more knowledge than anywhere else in

the world regarding ALL the periodic fever disorders.

God Bless

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group

March 15, 2006

>>>they did that to me too.. too soon to get arrangements .. i dont know why

they do that.. i had to rebook from the 7th to the day after easter monday..

at that time i could have done the 23rd if she had offered lol>>>

The reason they " do that " is NOT to waste time and money to keep the

research going. If a patient cancels and they have an opening they try to

fill that spot with a child in need. No other reason...

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group

March 15, 2006

I know but what I was saying .. was they initiallly offered me an appt that was

within 3 weeks.. i couldnt from canada get the arrangements made.. so when I

cancelled she reoffered for april .. i told her i could come in 2 weeks or 1

month.. Mercy had flights for us!

oh well lol

RE: NIH

>>>they did that to me too.. too soon to get arrangements .. i dont know why

they do that.. i had to rebook from the 7th to the day after easter monday..

at that time i could have done the 23rd if she had offered lol>>>

The reason they " do that " is NOT to waste time and money to keep the

research going. If a patient cancels and they have an opening they try to

fill that spot with a child in need. No other reason...

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group

March 15, 2006

Hi, My son Mattthew who is 13 does having dizziness with his episodes and can

not stay up too long. He also with this is experiencing heart palpatations. Our

MD wants to get a cardio eval for this and check his bp on a tilt table? This is

new for since Jan. (the dizzy). Gretchen

Sacora Casselman <sacoracasselman@...> wrote: That is so great for you!!

I hear you on excited and being scarred. Boy if you took the 23rd we are just

missing each other that is too bad.Ellyn I sent mine in Feb something and a WEEK

later they called me so I know how you are feeling. But I am so HAPPY for you

guys.

I was hoping someone would be there the same time we were there too but I

haven't heard of anyone else going that time. sent me a email saying that

Nicolas has alot more consults with different doctors and test and she is still

working on more what ever that means.

Nicolas I got him from school yesterday and he looked horrible and he said he

was feeling real dizzy and like he was going to vomit. Last night his glands

were swollen, headache, feverish, fatigued and very nausea. So here we go again.

Does any one else have their kids getting dizzy and stuff? My poor son I want

answerer's to why he is going through this, I want to help him.

CONGRATULATION

Sacora mom of Nicolas 12

ellyn.trickey@... wrote:

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and the

information from his rheumatologist must have just arrived at N.I.H. this

week.

We are to arrive June 12th and then he will be seen on the 13th at 8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

March 15, 2006

That is very interesting on the dizzy spells nick has started that this past

year he never really said anything before so I dont know if it is something new

or what. I took him to a cardio eval cause he gets very wiped with excersise and

has chest pains and they said it looked okay but they were more worried about

his lungs but I have not checked into that yet with us going to the NIH. Maybe I

should?

Gretchen Danson <gretchendanson@...> wrote: Hi, My son Mattthew who is 13

does having dizziness with his episodes and can not stay up too long. He also

with this is experiencing heart palpatations. Our MD wants to get a cardio eval

for this and check his bp on a tilt table? This is new for since Jan.

(the dizzy). Gretchen

Sacora Casselman <sacoracasselman@...> wrote: That is so great for you!!

I hear you on excited and being scarred. Boy if you took the 23rd we are just

missing each other that is too bad.Ellyn I sent mine in Feb something and a WEEK

later they called me so I know how you are feeling. But I am so HAPPY for you

guys.

I was hoping someone would be there the same time we were there too but I

haven't heard of anyone else going that time. sent me a email saying that

Nicolas has alot more consults with different doctors and test and she is still

working on more what ever that means.

Nicolas I got him from school yesterday and he looked horrible and he said he

was feeling real dizzy and like he was going to vomit. Last night his glands

were swollen, headache, feverish, fatigued and very nausea. So here we go again.

Does any one else have their kids getting dizzy and stuff? My poor son I want

answerer's to why he is going through this, I want to help him.

CONGRATULATION

Sacora mom of Nicolas 12

ellyn.trickey@... wrote:

I just got a phone call from Plass at N.I.H.!

They wanted to see on March 23rd, which was too soon for me to

arrange.

The next available date they offered was June 13th.

I'm very excited and scared at the same time.

It's startling to me that they would be willing to see him so quickly.

Recently reading in the message board the criteria N.I.H. uses when

scheduling appointments - the swiftness of the process makes me rather

nervous. I only sent in the application the beginning of February and the

information from his rheumatologist must have just arrived at N.I.H. this

week.

We are to arrive June 12th and then he will be seen on the 13th at 8:00am.

If anyone else will be there during this time - please let me know.

Ellyn

Mom of possibly (5),

Alyssa(8), and Kate(3)

Philadelphia, PA

April 12, 2006

The NIH is doing a study on bone marrow failure syndromes.

Shwachman-Diamond is one of them. We are in the study, but have not gone in

for our clinical portion of the study. Last year we sent in more blood and

were told they were a year behind on the clinical visits. The SDS families

who have gone have been amazed. They have you see ever doctor known to man,

give you the meds they prescribe free, and are very thorough. I also know

several families who have gone to the NIH to get a diagnosis--- the

stories vary there. Do you know who you will be seeing or who the

immunologist wants you to see? The NIH can be helpful if you are searching

for a diagnosis.

~Pattie~

" What matters is not great deeds, but great love. " ~ St. Therese of Lisieux

Family website: www.shwachman.50megs.com

_____

I was curious to know if anyone here has gone to the NIH to try to get a

diagnosis? Our immunologist is recommending our whole family go there. I

didn't think much about it until our infectious disease doc about flipped

out when I told him. His comment was: " You have a clinical immunologist

recommending you go to the NIH and you haven't packed yet? " He was even

more excited when he learned who we would be seeing there, evidentally this

guy is very well known. I have no idea what all this would entail. I know

a couple of people who have gone there with a specific diagnosis, we don't

have any kind of diagnosis at the moment, other than a totally messed up

family! :-)

Mom to Conner (11, possible combined immune deficiency, Asperger's, mild CP,

partial seizures, asthma, GERD, Hashimoto's disease and resolved adrenal

insufficiency),

Hayden (11, unknown PID, PDD-NOS, IBS and moderate hearing loss/aided),

Evan (11, unknown PID, asthma and mild hearing loss/unaided),

and Kelsey - (10, unknown PID, asthma)

Please visit us at www.caringbridge.org/in/connersmith

_____

April 12, 2006

Thanks for the info! Our immuno would really like us to see Steve Holland

there. I don't really know anything about him. They would like to get us

into a trial so that most of the expenses are covered - that would be nice!

Mom to Conner (11, possible combined immune deficiency, Asperger's, mild CP,

partial seizures, asthma, GERD, Hashimoto's disease and resolved adrenal

insufficiency),

Hayden (11, unknown PID, PDD-NOS, IBS and moderate hearing loss/aided),

Evan (11, unknown PID, asthma and mild hearing loss/unaided),

and Kelsey - (10, unknown PID, asthma)

Please visit us at www.caringbridge.org/in/connersmith

April 12, 2006

You can go to the NIH website and see his bio there.

Keep us posted

~Pattie~

" What matters is not great deeds, but great love. " ~ St. Therese of Lisieux

Family website: www.shwachman.50megs.com

_____

From: [mailto: ] On Behalf Of

S

Sent: Wednesday, April 12, 2006 11:23 AM

Subject: RE: NIH

Thanks for the info! Our immuno would really like us to see Steve Holland

there. I don't really know anything about him. They would like to get us

into a trial so that most of the expenses are covered - that would be nice!

_____

April 12, 2006

" You have a clinical immunologist

> recommending you go to the NIH and you haven't packed yet? "

They are doing some of the top of the line research on PID and I tend to

agree with your ped! They would be suited for pulling together

multiple doctor's inputs. They are currently working on familial CVID -

meaning hereditary. They are doing the latest, greatest on IgA

deficiency and who knows what else. What their " bedside " manner is like

-- I have no idea. But for a case like yours, I highly recommend giving

it a try!

In His service,

dale

April 13, 2006

>They are doing some of the top of the line research on PID and I tend to

>agree with your ped! They would be suited for pulling together

>multiple doctor's inputs. They are currently working on familial CVID -

>meaning hereditary. They are doing the latest, greatest on IgA

>deficiency and who knows what else. What their " bedside " manner is like

>-- I have no idea. But for a case like yours, I highly recommend giving

>it a try!

Thanks, Dale. That makes me feel even better about it!

Mom to Conner (11, possible combined immune deficiency, Asperger's, mild CP,

partial seizures, asthma, GERD, Hashimoto's disease and resolved adrenal

insufficiency),

Hayden (11, unknown PID, PDD-NOS, IBS and moderate hearing loss/aided),

Evan (11, unknown PID, asthma and mild hearing loss/unaided),

and Kelsey - (10, unknown PID, asthma)

Please visit us at www.caringbridge.org/in/connersmith

April 13, 2006

I am sorry I have been lurking around for some time but haven't

posted in ages! Hi to everyone!

I AM familiar with NIH. As far as the care, facilities etc...go they

ARE the best. I had several surgeries there while serving in the

military! I have never had my son, there but know they have

world class facilities and immunologists to take care of you and your

family. A study would be great if you can get into one, you just

need to apply and even call and try to talk to someone - or better

yet have your doctor call. I tried to get into several studies but

never got a return call, I am sure with your case though if your

doctor called you would have a much better chance :-) Good Luck!

Amy

(aka: mom2lilsean)

, age 3 (WOW!) PID, GERD, asthma, allergies

>

> >They are doing some of the top of the line research on PID and I

tend to

> >agree with your ped! They would be suited for pulling together

> >multiple doctor's inputs. They are currently working on familial

CVID -

> >meaning hereditary. They are doing the latest, greatest on IgA

> >deficiency and who knows what else. What their " bedside " manner

is like

> >-- I have no idea. But for a case like yours, I highly recommend

giving

> >it a try!

>

> Thanks, Dale. That makes me feel even better about it!

>

> Mom to Conner (11, possible combined immune deficiency, Asperger's,

mild CP,

> partial seizures, asthma, GERD, Hashimoto's disease and resolved

adrenal

> insufficiency),

> Hayden (11, unknown PID, PDD-NOS, IBS and moderate hearing

loss/aided),

> Evan (11, unknown PID, asthma and mild hearing loss/unaided),

> and Kelsey - (10, unknown PID, asthma)

> Please visit us at www.caringbridge.org/in/connersmith

>

July 6, 2006

You should be ok.. took me a good 4-6 weeks to feel good.. You can always switch

dates too if ya feel better doing that

mom to kiara almost 6

NIH

Me and my son Nicolas are suppose to go back to the NIH on Sept 20, I

found out yesterday I have shoulder surgery August 1 I am not sure

that my arm will be able to handle or lifting packing suit cases by

then what do you think? They have a few dates left in Oct so I am not

sure if I should switch or just keep that date? We are finding out

about the other testing we had done, then what treatments are going to

be.

Thanks

Sacora mom of Nicolas 12

July 6, 2006

Sacora.

ph and I are tentatively scheduled to go back to NIH for our visit on

the 19th of September. we should arrive on Monday the 18th and we will

probably stay 4 days or so. Last time we were there Mon-Friday with testing

done Tue, Wed and Thurs..

Maybe we will be there at the same time!!

Fran

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

,___

July 6, 2006

Hey, Nino and I will be there the same time too...let's have a

party!!!!!!!!!!!!!!!!! Lori

Fran Bulone <fbulone@...> wrote:

Sacora.

ph and I are tentatively scheduled to go back to NIH for our visit on

the 19th of September. we should arrive on Monday the 18th and we will

probably stay 4 days or so. Last time we were there Mon-Friday with testing

done Tue, Wed and Thurs..

Maybe we will be there at the same time!!

Fran

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

,___

July 6, 2006

Hey! I wanna be at that party!! No, not really I don't! We just spent the past

several hours at NIH today and we go back again on the 27th and again on Aug.

1st. That's enough party for me!

Quick question..PJ is pretty constipated most of the time and today, based on

last labs, he HAS to start on some iron. Dr. Coburn recommended Geritol but

won't the iron make the constipation worse? And does it taste as bad as it

smelled way back when my mother drank it? When I asked Dr. Coburn about that,

she suggested adding Metamucil to the mix.

The one time that PJ complained about having this disease, he asked me why he

had to have a disease that made him feel like an 80 year old. Metamucil??

Geritol?? Now he'll really feel like an 80 year old! LOL

We have to go back so soon because PJ is going to be one of 3 FMF patients

that are taking part in a study that Dr. Coburn and another fellow are doing,

something to do with neutrophils and the role they play in the inflammation

process specific to FMF patients. When she asked if we would be willing to be a

part of the study, Pj was willing and I was thrilled. It was really cool, it

felt like we were taking an active role in helping to find answers to the causes

and treatments of these periodic fevers. It made me feel so hopeful, listening

to her explain about her study. She was so enthusiastic...I just kept thinking

to myself, these people are so commited to helping our kids, to finding out

about these diseases and possibly how to cure them!

I am so thankful. God put us in this area, so close to this facility, for a

reason! We are so blessed!

Pat, mom to PJ, 13yo, FMF

---------------------------------

Messenger with Voice. Make PC-to-Phone Calls to the US (and 30+

countries) for 2¢/min or less.

July 6, 2006

Pat,

How bout a small shot glass of Mirlax to help constipation and small NORMAL

iron pills???? Poor kid has enough to handle!

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

July 6, 2006

Hey Pat.

I hit the send button too soon.

Keep us updated on the FMF study with the 3 kids.

Sounds so interesting.

What is the basis of the study.

Fran

Fran A Bulone

Mom to ph 7 yrs old

Waxhaw, NC

Owner & Moderator Group

<>

July 6, 2006

Hi ,

Hannah has an appointment at NIH on August 1 too. Are you staying at

the Children's Inn? It would be nice to meet.

Carey mom to Hannah Rose (Clinical HIDS)

-- In , Bombardier <petish44@...> wrote:

>

> Hey! I wanna be at that party!! No, not really I don't! We just

spent the past several hours at NIH today and we go back again on the

27th and again on Aug. 1st. That's enough party for me!

>

> Quick question..PJ is pretty constipated most of the time and

today, based on last labs, he HAS to start on some iron. Dr. Coburn

recommended Geritol but won't the iron make the constipation worse?

And does it taste as bad as it smelled way back when my mother drank

it? When I asked Dr. Coburn about that, she suggested adding

Metamucil to the mix.

> The one time that PJ complained about having this disease, he

asked me why he had to have a disease that made him feel like an 80

year old. Metamucil?? Geritol?? Now he'll really feel like an 80 year

old! LOL

>

> We have to go back so soon because PJ is going to be one of 3 FMF

patients that are taking part in a study that Dr. Coburn and another

fellow are doing, something to do with neutrophils and the role they

play in the inflammation process specific to FMF patients. When she

asked if we would be willing to be a part of the study, Pj was

willing and I was thrilled. It was really cool, it felt like we were

taking an active role in helping to find answers to the causes and

treatments of these periodic fevers. It made me feel so hopeful,

listening to her explain about her study. She was so enthusiastic...I

just kept thinking to myself, these people are so commited to helping

our kids, to finding out about these diseases and possibly how to

cure them!

>

> I am so thankful. God put us in this area, so close to this

facility, for a reason! We are so blessed!

>

> Pat, mom to PJ, 13yo, FMF

>

> ---------------------------------

> Messenger with Voice. Make PC-to-Phone Calls to the US (and

30+ countries) for 2¢/min or less.

>

July 6, 2006

we return August 6-10 to NIH ... wonder who will be there

mom to kiara almost 4

Re: NIH