Re: Will our children really grow out of ?????

May 2, 2006

I was hoping you mean 23 months old? Gretchen 13

<alliandjason@...> wrote: Kathleen,

Your son still has at the age of 23? Did he have genetic

tests done? I am wondering and worried because we have been told

that our daughter would grow out of this and it is shocking to hear

that your son has suffered with this for so long. The thought of

going through this for that long brings tears to my eyes. Does

anyone know if children really grow out of this? Does any one know

any child who has grown out of this, and at what age????

, mother of ee

Just turned 2,

>

> -

>

> My son is 23 yrs old and has had since he was 4 mos old. He

has every symptom but has never suffered from a cough. He never has

had any other illness, until he was 21 yrs old, that my other

children had.

>

> Kathleen (mother of , 23)

> -------------- Original message --------------

> From: " jensheahan " <jensheahan@...>

>

> > Hello all...my 4 year old son has had fevers since

he

> > was 9 months old. He doesn't always get all the manifestations

so we

> > were delayed in his diagnosis. He was considered to have

systemic JRA

> > until recently. He started fevering on Friday night and

developed a

> > cough. By saturday morning his fever was 104.4,he had the mouth

sores,

> > was complaining that his neck hurt, but also had this cough. I

took

> > him into the after hours clinic so I could document the throat

because

> > I am trying to make a case for a tonsillectomy. They cultured

his

> > throat, negative as usual, and then decided it was a

episode. (I

> > knew that but had to get it documented.) Anyway, all symptoms

have now

> > disappeared except the cough. Does anyone else have a child that

> > continues with a gagging cough after all other symptoms

> > disappear? I'm not sure if this is typical or maybe it is an

allergy.

> > Thanks for any replies. I read all posts even though I can't

always

> > respond!!

> >

> > Mom to , 4 since 9 months

> >

May 2, 2006

-

It has been hard for me to respond to the mom's of young children

because has suffered from this for so long. I didn't want to

make anyone feel more frustrated than they already do. He did not

have genetic tests done. I have 2 other children that have never

shown any signs

of . I have 21 nieces and nephews, not one has 's symptoms.

Please feel free to ask me any questions.

Kathleen (mom of 23 yrs old still dealing with )

On May 2, 2006, at 6:12 PM, wrote:

> Kathleen,

> Your son still has at the age of 23? Did he have genetic

> tests done? I am wondering and worried because we have been told

> that our daughter would grow out of this and it is shocking to hear

> that your son has suffered with this for so long. The thought of

> going through this for that long brings tears to my eyes. Does

> anyone know if children really grow out of this? Does any one know

> any child who has grown out of this, and at what age????

>

> , mother of ee

> Just turned 2,

>

>>

>> -

>>

>> My son is 23 yrs old and has had since he was 4 mos old. He

> has every symptom but has never suffered from a cough. He never has

> had any other illness, until he was 21 yrs old, that my other

> children had.

>>

>> Kathleen (mother of , 23)

>> -------------- Original message --------------

>> From: " jensheahan " <jensheahan@...>

>>

>>> Hello all...my 4 year old son has had fevers since

> he

>>> was 9 months old. He doesn't always get all the manifestations

> so we

>>> were delayed in his diagnosis. He was considered to have

> systemic JRA

>>> until recently. He started fevering on Friday night and

> developed a

>>> cough. By saturday morning his fever was 104.4,he had the mouth

> sores,

>>> was complaining that his neck hurt, but also had this cough. I

> took

>>> him into the after hours clinic so I could document the throat

> because

>>> I am trying to make a case for a tonsillectomy. They cultured

> his

>>> throat, negative as usual, and then decided it was a

> episode. (I

>>> knew that but had to get it documented.) Anyway, all symptoms

> have now

>>> disappeared except the cough. Does anyone else have a child that

>>> continues with a gagging cough after all other symptoms

>>> disappear? I'm not sure if this is typical or maybe it is an

> allergy.

>>> Thanks for any replies. I read all posts even though I can't

> always

>>> respond!!

>>>

>>> Mom to , 4 since 9 months

>>>

May 2, 2006

I thought people would think I made a mistake with YRS not MOS. But

no is 23 yrs old.

Kathleen

On May 2, 2006, at 6:20 PM, Gretchen Danson wrote:

> I was hoping you mean 23 months old? Gretchen 13

>

> <alliandjason@...> wrote: Kathleen,

> Your son still has at the age of 23? Did he have genetic

> tests done? I am wondering and worried because we have been told

> that our daughter would grow out of this and it is shocking to hear

> that your son has suffered with this for so long. The thought of

> going through this for that long brings tears to my eyes. Does

> anyone know if children really grow out of this? Does any one know

> any child who has grown out of this, and at what age????

>

> , mother of ee

> Just turned 2,

>

>>

>> -

>>

>> My son is 23 yrs old and has had since he was 4 mos old. He

> has every symptom but has never suffered from a cough. He never has

> had any other illness, until he was 21 yrs old, that my other

> children had.

>>

>> Kathleen (mother of , 23)

>> -------------- Original message --------------

>> From: " jensheahan " <jensheahan@...>

>>

>>> Hello all...my 4 year old son has had fevers since

> he

>>> was 9 months old. He doesn't always get all the manifestations

> so we

>>> were delayed in his diagnosis. He was considered to have

> systemic JRA

>>> until recently. He started fevering on Friday night and

> developed a

>>> cough. By saturday morning his fever was 104.4,he had the mouth

> sores,

>>> was complaining that his neck hurt, but also had this cough. I

> took

>>> him into the after hours clinic so I could document the throat

> because

>>> I am trying to make a case for a tonsillectomy. They cultured

> his

>>> throat, negative as usual, and then decided it was a

> episode. (I

>>> knew that but had to get it documented.) Anyway, all symptoms

> have now

>>> disappeared except the cough. Does anyone else have a child that

>>> continues with a gagging cough after all other symptoms

>>> disappear? I'm not sure if this is typical or maybe it is an

> allergy.

>>> Thanks for any replies. I read all posts even though I can't

> always

>>> respond!!

>>>

>>> Mom to , 4 since 9 months

>>>

May 2, 2006

Kathleen,

How long ago were his genetic studies done??

Just wondering since there have been numerous mutations isolated since

1999... and again in 2001-2002.

Have they repeated his testing?

Just wondering because my son is 6 and had genetic studies in 2000... and

repeated about 8 months ago and he is positive for a Cryopyrin Mutation

which causes NOMID/Muckle Wells. He is on the lower end of the spectrum for

this disorder but he will need genetic counseling when he is older as there

are 2 known children with the exact mutation as ph who have the full

blown disease... including mental retardation and major boney deformities

and intracranial pressure. He will have a 50 percent chance of passing the

gene to each child and there is a possibility that they may have the

disorder at any level.

Just wondering.... if he has an accurate diagnosis. We have had about a

dozen children (younger than your son) who came to us with the diagnosis of

and since changed.... oh... we have 2 silent members who are in their

early 20's too... Both are considered .... But I do not think either

had the full panel for all the genetic disorders...

God Bless

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group

May 2, 2006

>>> He did not

have genetic tests done. I have 2 other children that have never

shown any signs

of . I have 21 nieces and nephews, not one has 's symptoms. >>>

Hi again Kathleen

You need to understand that genetic mutations are NOT always passed on from

the actual parents.

In NOMID for example the children who have a genetic mutation do NOT all

have it passed from a parent. There is something called a SPONTANEOUS

mutation and about 40 percent of the people with the mutations have this

type of occurance.

Once the mutations occur in ANY disorder, THEN the individual will have a 25

percent or 50 percent chance of passing that gene on. I personally know 7

people who have children with a genetic fever disorders and the parents and

other family members do NOT.

Fran

Fran A Bulone

Mom to ph 6 yrs old

Waxhaw, NC

Owner & Moderator Group

May 2, 2006

Thank you Fran. No, as I said earlier has not had genetic

testing. When did the drs start recommending it? No one has ever

suggest it. was finally diagnosed in 1990 at Children's

Memorial in Chicago. This was after I searched high and low for an

answer to this baffling illness. He had many tests done at several

of the leading hospitals in Chicago-all negative. He was

hospitalized shortly after diagnosis to do testing that was part of

Dr 's research. He was part of Tyson ' research. At the

time of his diagnosis there were only 12 children on record as having

.

He was tested several years later for Cyclic Neutropenia-negative.

Has had CT scans-negative. Culture after culture-negative.

Antibiotics, steroids, Tagamet-no help. After many years of back and

forth to the doctor and always the same answer we just stopped going

and dealt with it at home.

He has been hospitalized 2 in the past 1 1/2 yrs. One trip started

out looking like and ended up being Myocarditis. This was the

FIRST time had any other illness symptoms other than , we

were shocked!! He had another stay this past week, which is what

lead me back to the internet where I discovered your group. He had

many tests again and everything was negative. The doctors treated

his pain which was more than he could bear. He was very medicated

during his stay. This was his worst bout ever. I have noticed

throughout the years, especially as he got older that stress seemed

to induce his symptoms-that's like a vicious cycle.

Reading the e-mail of the other mom's has totally brought me back to

the early days of 's illness. My heart go out to each family.

This has been a long road for and our family. Though I

believe it has made the man he is today. He is very successful

in life and compassionate person. He's married, owns his own

personal training business and lives a fairly normal life.

He often tells people that this has been a blessing and a curse.

Please feel free to ask me any questions.

Thank you for taking the time to organize this group. You are

helping families in a way that wasn't available to us when we first

learned of this illness.

What a blessing your are to desperate parents.

Kathleen

On May 2, 2006, at 8:24 PM, Fran Bulone wrote:

>>>> He did not

> have genetic tests done. I have 2 other children that have never

> shown any signs

> of . I have 21 nieces and nephews, not one has 's

> symptoms. >>>

>

> Hi again Kathleen

> You need to understand that genetic mutations are NOT always passed

> on from

> the actual parents.

> In NOMID for example the children who have a genetic mutation do

> NOT all

> have it passed from a parent. There is something called a SPONTANEOUS

> mutation and about 40 percent of the people with the mutations have

> this

> type of occurance.

>

> Once the mutations occur in ANY disorder, THEN the individual will

> have a 25

> percent or 50 percent chance of passing that gene on. I personally

> know 7

> people who have children with a genetic fever disorders and the

> parents and

> other family members do NOT.

>

> Fran

> Fran A Bulone

> Mom to ph 6 yrs old

> Waxhaw, NC

> Owner & Moderator Group

>

May 3, 2006

Wow Kathleen,

So your son was in the ORIGINAL study with , Lawton et

al???

We have hoped to find people from that study!

As for genetic studies... YES that is the recommendation. There IS a

study at the NIH for individuals with Periodic Fevers and they do

the testing up there through NIH and Genedx... free since NIH is the

research center for the US.

The initial study done in the 90's and published in 99 was very

vague and no follow up was done on the children who are now adults.

It was assumed that the children's fevers resolved.

We have found since the genome study is in place up at NIH... MORE

fever disorders have been documented through genetics... including

TRAPs and NOMID and Muckle Wells. Along with the new findings and

naming of these mutations, new mutations for the known fever

disorders such as FMF and HIDS have been isolated.

MANY MANY of the children and adults have NOW been RE-

diagnosed. This is wonderful since treatment is different and since

the patients were NOT being treated for the correct disorder,

secondary disorders can now be slowed down or prevented.

Also for these individuals,who eventually marry and want to plan for

a family, they do need to have genetic counseling since the fever

disorders vary in degree from person to person and a parent with the

gene may pass on that same gene with more intense symptoms...

The info for the research study is at the site.... you need to join

as a member to get to the file section and to the links...

There you will also find all the contact people at the NIH.

I also can send it to you if you prefer not becoming a member.

God bless

And Welcome

Fran

May 3, 2006

Fran-

Yes, was part of the original study. I have had quite a few conversations

with Dr and Tyson in the past.

Reading the info you provided is hard for me right now. I can't explain how bad

was this last episode. He has now memory of the 8 days that the illness

was very intense. They had him very drugged to relieve the pain. It started

head to toe and ended up lasting the longest in his neck, throat and head. He

lost 22 pounds from mid March to now. When he gets sick he cannot eat. He was

hit with 2 big episode between those dates.

Please forward to info so that I can pass it on to . We would all be very

grateful to you.

Kathleen (mom of 23 yrs old)

-------------- Original message --------------

From: " Fran " <fbulone@...>

> Wow Kathleen,

> So your son was in the ORIGINAL study with , Lawton et

> al???

>

> We have hoped to find people from that study!

>

> As for genetic studies... YES that is the recommendation. There IS a

> study at the NIH for individuals with Periodic Fevers and they do

> the testing up there through NIH and Genedx... free since NIH is the

> research center for the US.

>

> The initial study done in the 90's and published in 99 was very

> vague and no follow up was done on the children who are now adults.

>

> It was assumed that the children's fevers resolved.

>

> We have found since the genome study is in place up at NIH... MORE

> fever disorders have been documented through genetics... including

> TRAPs and NOMID and Muckle Wells. Along with the new findings and

> naming of these mutations, new mutations for the known fever

> disorders such as FMF and HIDS have been isolated.

>

> MANY MANY of the children and adults have NOW been RE-

> diagnosed. This is wonderful since treatment is different and since

> the patients were NOT being treated for the correct disorder,

> secondary disorders can now be slowed down or prevented.

>

> Also for these individuals,who eventually marry and want to plan for

> a family, they do need to have genetic counseling since the fever

> disorders vary in degree from person to person and a parent with the

> gene may pass on that same gene with more intense symptoms...

>

> The info for the research study is at the site.... you need to join

> as a member to get to the file section and to the links...

> There you will also find all the contact people at the NIH.

>

> I also can send it to you if you prefer not becoming a member.

>

> God bless

> And Welcome

> Fran

>

May 3, 2006

Hi Kathleen, I was curious about s symptoms over the years. Did they vary

at all in severity? or did he have classic every time? When you tried

steroids or tagamet what was the outcome? Thank-you, Gretchen 13

kathleen chmura <kmcloud79@...> wrote: Thank you Fran. No, as I said

earlier has not had genetic

testing. When did the drs start recommending it? No one has ever

suggest it. was finally diagnosed in 1990 at Children's

Memorial in Chicago. This was after I searched high and low for an

answer to this baffling illness. He had many tests done at several

of the leading hospitals in Chicago-all negative. He was

hospitalized shortly after diagnosis to do testing that was part of

Dr 's research. He was part of Tyson ' research. At the

time of his diagnosis there were only 12 children on record as having

.

He was tested several years later for Cyclic Neutropenia-negative.

Has had CT scans-negative. Culture after culture-negative.

Antibiotics, steroids, Tagamet-no help. After many years of back and

forth to the doctor and always the same answer we just stopped going

and dealt with it at home.

He has been hospitalized 2 in the past 1 1/2 yrs. One trip started

out looking like and ended up being Myocarditis. This was the

FIRST time had any other illness symptoms other than , we

were shocked!! He had another stay this past week, which is what

lead me back to the internet where I discovered your group. He had

many tests again and everything was negative. The doctors treated

his pain which was more than he could bear. He was very medicated

during his stay. This was his worst bout ever. I have noticed

throughout the years, especially as he got older that stress seemed

to induce his symptoms-that's like a vicious cycle.

Reading the e-mail of the other mom's has totally brought me back to

the early days of 's illness. My heart go out to each family.

This has been a long road for and our family. Though I

believe it has made the man he is today. He is very successful

in life and compassionate person. He's married, owns his own

personal training business and lives a fairly normal life.

He often tells people that this has been a blessing and a curse.

Please feel free to ask me any questions.

Thank you for taking the time to organize this group. You are

helping families in a way that wasn't available to us when we first

learned of this illness.

What a blessing your are to desperate parents.

Kathleen

On May 2, 2006, at 8:24 PM, Fran Bulone wrote:

>>>> He did not

> have genetic tests done. I have 2 other children that have never

> shown any signs

> of . I have 21 nieces and nephews, not one has 's

> symptoms. >>>

>

> Hi again Kathleen

> You need to understand that genetic mutations are NOT always passed

> on from

> the actual parents.

> In NOMID for example the children who have a genetic mutation do

> NOT all

> have it passed from a parent. There is something called a SPONTANEOUS

> mutation and about 40 percent of the people with the mutations have

> this

> type of occurance.

>

> Once the mutations occur in ANY disorder, THEN the individual will

> have a 25

> percent or 50 percent chance of passing that gene on. I personally

> know 7

> people who have children with a genetic fever disorders and the

> parents and

> other family members do NOT.

>

> Fran

> Fran A Bulone

> Mom to ph 6 yrs old

> Waxhaw, NC

> Owner & Moderator Group

>

May 3, 2006

Gretchen-

sympotoms have varied over the years. At first he had fevers and swollen

glands, of course there may have been more but he was a baby and couldn't

communicate. The episodes were fairly consistant 3-5 days duration, fevers 105+,

recurring between 4-6 weeks. By the time he was diagnosed (7yrs old) he had

fevers, sore throat, mouth sores, headaches, swollen glands from neck to groin,

body aches. I saw them changing when he went through puberty-fevers were less

intense but the glands seemed to be swollen almost all of the time, to one

degree or another. After high school they seemed to comeback with avengence and

not as consistant, but all of the sypmtoms were there. We have linked stress

with the intensity, at least since the mid 90's.

We did try Tagamet many years ago when a doctor on the East Coast noticed it

help one of his patients-we unfortunately didn't notice a change in . I

think at that time may have only been the 2nd person to try it. He did

try the steroids route for a year and did not note any significant changes.

How is your son doing? How does he handle the emotional side? I remember how

it was for , just wondering.

Kathleen (mom of 23 yrs old)

-------------- Original message --------------

From: Gretchen Danson <gretchendanson@...>

> Hi Kathleen, I was curious about s symptoms over the years. Did they vary

> at all in severity? or did he have classic every time? When you tried

> steroids or tagamet what was the outcome? Thank-you, Gretchen 13

>

> kathleen chmura wrote: Thank you Fran. No, as I said

> earlier has not had genetic

> testing. When did the drs start recommending it? No one has ever

> suggest it. was finally diagnosed in 1990 at Children's

> Memorial in Chicago. This was after I searched high and low for an

> answer to this baffling illness. He had many tests done at several

> of the leading hospitals in Chicago-all negative. He was

> hospitalized shortly after diagnosis to do testing that was part of

> Dr 's research. He was part of Tyson ' research. At the

> time of his diagnosis there were only 12 children on record as having

> .

>

> He was tested several years later for Cyclic Neutropenia-negative.

> Has had CT scans-negative. Culture after culture-negative.

> Antibiotics, steroids, Tagamet-no help. After many years of back and

> forth to the doctor and always the same answer we just stopped going

> and dealt with it at home.

> He has been hospitalized 2 in the past 1 1/2 yrs. One trip started

> out looking like and ended up being Myocarditis. This was the

> FIRST time had any other illness symptoms other than , we

> were shocked!! He had another stay this past week, which is what

> lead me back to the internet where I discovered your group. He had

> many tests again and everything was negative. The doctors treated

> his pain which was more than he could bear. He was very medicated

> during his stay. This was his worst bout ever. I have noticed

> throughout the years, especially as he got older that stress seemed

> to induce his symptoms-that's like a vicious cycle.

>

> Reading the e-mail of the other mom's has totally brought me back to

> the early days of 's illness. My heart go out to each family.

>

> This has been a long road for and our family. Though I

> believe it has made the man he is today. He is very successful

> in life and compassionate person. He's married, owns his own

> personal training business and lives a fairly normal life.

> He often tells people that this has been a blessing and a curse.

>

> Please feel free to ask me any questions.

>

> Thank you for taking the time to organize this group. You are

> helping families in a way that wasn't available to us when we first

> learned of this illness.

> What a blessing your are to desperate parents.

>

> Kathleen

>

> On May 2, 2006, at 8:24 PM, Fran Bulone wrote:

>

> >>>> He did not

> > have genetic tests done. I have 2 other children that have never

> > shown any signs

> > of . I have 21 nieces and nephews, not one has 's

> > symptoms. >>>

> >

> > Hi again Kathleen

> > You need to understand that genetic mutations are NOT always passed

> > on from

> > the actual parents.

> > In NOMID for example the children who have a genetic mutation do

> > NOT all

> > have it passed from a parent. There is something called a SPONTANEOUS

> > mutation and about 40 percent of the people with the mutations have

> > this

> > type of occurance.

> >

> > Once the mutations occur in ANY disorder, THEN the individual will

> > have a 25

> > percent or 50 percent chance of passing that gene on. I personally

> > know 7

> > people who have children with a genetic fever disorders and the

> > parents and

> > other family members do NOT.

> >

> > Fran

> > Fran A Bulone

> > Mom to ph 6 yrs old

> > Waxhaw, NC

> > Owner & Moderator Group

> >

May 3, 2006

Thank you Kathleen sounds like as far as the swollen glads and not

so much the fever. has had a rough time since Jan. we had never tried

any meds until now. He was having episodes every two weeks. He has had scans and

every blood test except for genetic. He is a healthy 13 year old boy with .

I think puberty has something to do with it too. He is on tagamet since Easter

Sunday and now he has a bad episode followed by a not so bad one but, still

every about 9 days. Fran did tell me that is can take up to 3 months before the

meds change anything however, if this doesn't change anything I want him

genetically tested for sure. Thanks for joining this group. It's good to have

more families to talk to that have older ones with this or who have had this. I

too feel for all the young ones and what we have all gone through over the years

just like all of them. Thanks again, Gretchen 13

kmcloud79@... wrote: Gretchen-