We are home from NIH UPDATE

[Guest guest]

We are HOME!

Exhausted but THRILLED to be back in NC!!

OK... let me tell you where we are with ph and his diagnosis.

ph has the Cryopyrin gene mutation. He however does NOT have enough of

the PHYSICAL characteristics to label him as a NOMID child.

The Cryopyrin protein is the culprit causing his Periodic Fever Syndrome

most likely and it is causing the hives and rashes he gets. It is also

causing the Neuro-cognitive delays he is having. He was seen by a team of

neurologists yesterday and they agree ph needs further testing;

Neuro-cognitive and Neuro-psych. His reactions are slower than average. He

also had an OT evaluation and again here he was tested and timed to complete

certain tasks and he was unable to complete the tasks in the " average " time.

I had a strong feeling this would be the outcome from OT, because one major

issue in school is his inability to complete assignments. He was evaluated

last year and the OT did think he needed assistance but someone in the

meeting (I forget who!) denied OT.

I am going to ask for another IEP meeting, and request the Neuro-cognitive

testing and Neuro-psych testing be done ASAP through the school district.

There was not time to do the testing at NIH as we had to get home this

weekend.

We need to return to NIH in September for follow-up. They want to keep close

observation with his eye sight and inflammation as well as audiology. Funny

thing is the audiology team found ph to have SUPER sensitivity to

sounds. The doctors feel this is ANOTHER issue creating difficulty with

ph within his classroom. He complains of kids talking around him and his

inability to concentrate. Two factors that seem to be coming into play are

the sound sensitivity, and the difficulty to focus. The audiologist and the

fever team of docs as well as the Neuro team all feel ph needs a special

device in class. The device includes a microphone the teacher wears and

headphones that ph wears... (with a portable system that transmits the

teachers voice to ph)... ultimately sounding out the " other " sounds

around him allowing him to hear his teacher clearly. I am going to bring

this up at the IEP meeting also.

The OT department also thinks the school should set up special ed class to

teach ph to use a keyboard if he continues to have significant

challenges with writing. Ultimately, he may need an assistant to help him

take notes etc. He has the ability to develop ideas, do the work, and learn,

but he is challenged getting his thoughts in his head transmitted to the

paper.

All of this just breaks my heart.

He tried SOOOOOOOOO hard to do the tasks that the OT did with him while

being timed. He is not at all lazy. He wants to do good. But he struggles.

Nevertheless, it does seem we have really good news. The chances for ph

to develop severe eye issues and hearing issues as well as brain atrophy are

nearly NONE!!! Dr. Kastner and Dr. Goldbach-Mansky feel the challenges we

are dealing with now are most likely the only chances we will have to deal

with. They cannot promise this but they both told me to go home and enjoy

ph and focus on the issues we have now... and NOT to worry about any new

ones that may present !

So, the prayers are working! Please keep on praying.

[Guest guest]

I am glad you and joseph made it home. Did you meet Tammy and her

family why you were there? Nick has a lot of delays in school to and

he is on IEP for school. Well I am sure your very worn out but

welcome back, have a nice evening.

Sacora mom of nicolas 12

>

> We are HOME!

>

> Exhausted but THRILLED to be back in NC!!

>

> OK... let me tell you where we are with ph and his diagnosis.

> ph has the Cryopyrin gene mutation. He however does NOT have

enough of

> the PHYSICAL characteristics to label him as a NOMID child.

>

> The Cryopyrin protein is the culprit causing his Periodic Fever

Syndrome

> most likely and it is causing the hives and rashes he gets. It is

also

> causing the Neuro-cognitive delays he is having. He was seen by a

team of

> neurologists yesterday and they agree ph needs further testing;

> Neuro-cognitive and Neuro-psych. His reactions are slower than

average. He

> also had an OT evaluation and again here he was tested and timed

to complete

> certain tasks and he was unable to complete the tasks in

the " average " time.

>

> I had a strong feeling this would be the outcome from OT, because

one major

> issue in school is his inability to complete assignments. He was

evaluated

> last year and the OT did think he needed assistance but someone in

the

> meeting (I forget who!) denied OT.

>

> I am going to ask for another IEP meeting, and request the Neuro-

cognitive

> testing and Neuro-psych testing be done ASAP through the school

district.

> There was not time to do the testing at NIH as we had to get home

this

> weekend.

>

> We need to return to NIH in September for follow-up. They want to

keep close

> observation with his eye sight and inflammation as well as

audiology. Funny

> thing is the audiology team found ph to have SUPER sensitivity

to

> sounds. The doctors feel this is ANOTHER issue creating difficulty

with

> ph within his classroom. He complains of kids talking around

him and his

> inability to concentrate. Two factors that seem to be coming into

play are

> the sound sensitivity, and the difficulty to focus. The

audiologist and the

> fever team of docs as well as the Neuro team all feel ph needs

a special

> device in class. The device includes a microphone the teacher

wears and

> headphones that ph wears... (with a portable system that

transmits the

> teachers voice to ph)... ultimately sounding out the " other "

sounds

> around him allowing him to hear his teacher clearly. I am going to

bring

> this up at the IEP meeting also.

>

> The OT department also thinks the school should set up special ed

class to

> teach ph to use a keyboard if he continues to have significant

> challenges with writing. Ultimately, he may need an assistant to

help him

> take notes etc. He has the ability to develop ideas, do the work,

and learn,

> but he is challenged getting his thoughts in his head transmitted

to the

> paper.

>

> All of this just breaks my heart.

> He tried SOOOOOOOOO hard to do the tasks that the OT did with him

while

> being timed. He is not at all lazy. He wants to do good. But he

struggles.

>

> Nevertheless, it does seem we have really good news. The chances

for ph

> to develop severe eye issues and hearing issues as well as brain

atrophy are

> nearly NONE!!! Dr. Kastner and Dr. Goldbach-Mansky feel the

challenges we

> are dealing with now are most likely the only chances we will have

to deal

> with. They cannot promise this but they both told me to go home

and enjoy

> ph and focus on the issues we have now... and NOT to worry

about any new

> ones that may present !

>

> So, the prayers are working! Please keep on praying.

>

>

>

[Guest guest]

Fran,

It sounds like your trip to NIH was a good one. We will keep praying that

ph does not develop any more symptoms. I am so glad to hear that the

doctors are so confident that the sypmtoms you are dealing with now may be the

only ones that you will have to live with in the future.

I hope you and your family enjoy the weekend.

,

mom to Hieser 2 1/2 (, Aminah 4 mos

San Francisco

Fran Bulone <fbulone@...> wrote:

We are HOME!

Exhausted but THRILLED to be back in NC!!

OK... let me tell you where we are with ph and his diagnosis.

ph has the Cryopyrin gene mutation. He however does NOT have enough of

the PHYSICAL characteristics to label him as a NOMID child.

The Cryopyrin protein is the culprit causing his Periodic Fever Syndrome

most likely and it is causing the hives and rashes he gets. It is also

causing the Neuro-cognitive delays he is having. He was seen by a team of

neurologists yesterday and they agree ph needs further testing;

Neuro-cognitive and Neuro-psych. His reactions are slower than average. He

also had an OT evaluation and again here he was tested and timed to complete

certain tasks and he was unable to complete the tasks in the " average " time.

I had a strong feeling this would be the outcome from OT, because one major

issue in school is his inability to complete assignments. He was evaluated

last year and the OT did think he needed assistance but someone in the

meeting (I forget who!) denied OT.

I am going to ask for another IEP meeting, and request the Neuro-cognitive

testing and Neuro-psych testing be done ASAP through the school district.

There was not time to do the testing at NIH as we had to get home this

weekend.

We need to return to NIH in September for follow-up. They want to keep close

observation with his eye sight and inflammation as well as audiology. Funny

thing is the audiology team found ph to have SUPER sensitivity to

sounds. The doctors feel this is ANOTHER issue creating difficulty with

ph within his classroom. He complains of kids talking around him and his

inability to concentrate. Two factors that seem to be coming into play are

the sound sensitivity, and the difficulty to focus. The audiologist and the

fever team of docs as well as the Neuro team all feel ph needs a special

device in class. The device includes a microphone the teacher wears and

headphones that ph wears... (with a portable system that transmits the

teachers voice to ph)... ultimately sounding out the " other " sounds

around him allowing him to hear his teacher clearly. I am going to bring

this up at the IEP meeting also.

The OT department also thinks the school should set up special ed class to

teach ph to use a keyboard if he continues to have significant

challenges with writing. Ultimately, he may need an assistant to help him

take notes etc. He has the ability to develop ideas, do the work, and learn,

but he is challenged getting his thoughts in his head transmitted to the

paper.

All of this just breaks my heart.

He tried SOOOOOOOOO hard to do the tasks that the OT did with him while

being timed. He is not at all lazy. He wants to do good. But he struggles.

Nevertheless, it does seem we have really good news. The chances for ph

to develop severe eye issues and hearing issues as well as brain atrophy are

nearly NONE!!! Dr. Kastner and Dr. Goldbach-Mansky feel the challenges we

are dealing with now are most likely the only chances we will have to deal

with. They cannot promise this but they both told me to go home and enjoy

ph and focus on the issues we have now... and NOT to worry about any new

ones that may present !

So, the prayers are working! Please keep on praying.

[Guest guest]

Fran,

Your journey is very interesting to me. Although we consider 's

in remission, you discribed several things that we see or have

seen (although at a much milder rate then your son has experienced)

in over the years but never related to the . is VERY

sensitive to the noise around him in the classroom. He totally

dislikes sitting near noisy students for load groups or people.

Says it makes it hard for him to concentrate. also had to see

a speach therapist in elementary school for a short time. Certain

letters gave him problems, but it was due to the blisters in his

mouth that hurt with certain movements.

I hope you are more successful getting the testing you need from the

school district. Our experience with our other son was that the

line is long and the staff small. Don't give up...you just have to

keep pushing them. If you end up need a 504 i have lots of good

websites that will help you with it. Our other son is on a 504 for

other reasons. As your child moves through school some teachers or

schools are not as accomdating for special needs, so a 504 is a

great tool for you and is a legal document to use if you need to

fight for your childs rights.

I hope you too....and everyone else who posts to this board will

find the same good feeling that we have now will the gone.

Dean

Father of 14 1/2

Winter Park, FL

[Guest guest]

Fran,

When I joined this group years ago, I think there were only less

than 70 members. Our sons are about the same age. So after having

a diagnosis for so long, and then finding out it was actually

something else has been a great concern to me, especially lately

with Evan's fevers returning regularly and with such a vengeance!

You must be so relieved that the severe eye and hearing issues will

not be a worry - and to not be labeled as NOMID.

My thoughts and prayers have always been with you and ph and

everyone suffering through this.

It seems that NIH is really producing an immense amount of help for

our children.

Next month I will be seeing Dr Feder out of CT Childrens. Our

rheumatologist feels maybe Dr Feder can help us more because he has

worked with more periodic fever patients. I cannot stop looking for

answers. I cannot just accept this without knowing more. I

keep thinking that there has to be more to this.

Especially now, with what has happened with you and ph. Evan's

Kindergarten teacher has asked me if he is sensitive to noises

because occasionally he will block his ears and complain of the

other children being too noisy. He also had a speech evaluation

this year. Thankfully, just working harder with him at home with

phonics has cleared up is speech issues.

I know I am going on and on here, but I can't help but notice the

similarities.

So -- can an ID Doc not associated with NIH test for the Cryopyrin

gene? I do not know if you know the answer to this or not. But I

miss so much time from work already, I do not know if we would be

able to make the trip to NIH. Of course I would do whatever it took

for Evan's sake. I would have to make it work if Dr Feder does not

have any answers.

Thank you so much for starting this group.

You are amazing!

My thoughts and prayers to everyone,

Tara

Connecticut

mom to Evan (6 in May Pfapa) and age 8

>

> We are HOME!

>

> Exhausted but THRILLED to be back in NC!!

>

> OK... let me tell you where we are with ph and his diagnosis.

> ph has the Cryopyrin gene mutation. He however does NOT have

enough of

> the PHYSICAL characteristics to label him as a NOMID child.

>

> The Cryopyrin protein is the culprit causing his Periodic Fever

Syndrome

> most likely and it is causing the hives and rashes he gets. It is

also

> causing the Neuro-cognitive delays he is having. He was seen by a

team of

> neurologists yesterday and they agree ph needs further testing;

> Neuro-cognitive and Neuro-psych. His reactions are slower than

average. He

> also had an OT evaluation and again here he was tested and timed

to complete

> certain tasks and he was unable to complete the tasks in

the " average " time.

>

> I had a strong feeling this would be the outcome from OT, because

one major

> issue in school is his inability to complete assignments. He was

evaluated

> last year and the OT did think he needed assistance but someone in

the

> meeting (I forget who!) denied OT.

>

> I am going to ask for another IEP meeting, and request the Neuro-

cognitive

> testing and Neuro-psych testing be done ASAP through the school

district.

> There was not time to do the testing at NIH as we had to get home

this

> weekend.

>

> We need to return to NIH in September for follow-up. They want to

keep close

> observation with his eye sight and inflammation as well as

audiology. Funny

> thing is the audiology team found ph to have SUPER sensitivity

to

> sounds. The doctors feel this is ANOTHER issue creating difficulty

with

> ph within his classroom. He complains of kids talking around

him and his

> inability to concentrate. Two factors that seem to be coming into

play are

> the sound sensitivity, and the difficulty to focus. The

audiologist and the

> fever team of docs as well as the Neuro team all feel ph needs

a special

> device in class. The device includes a microphone the teacher

wears and

> headphones that ph wears... (with a portable system that

transmits the

> teachers voice to ph)... ultimately sounding out the " other "

sounds

> around him allowing him to hear his teacher clearly. I am going to

bring

> this up at the IEP meeting also.

>

> The OT department also thinks the school should set up special ed

class to

> teach ph to use a keyboard if he continues to have significant

> challenges with writing. Ultimately, he may need an assistant to

help him

> take notes etc. He has the ability to develop ideas, do the work,

and learn,

> but he is challenged getting his thoughts in his head transmitted

to the

> paper.

>

> All of this just breaks my heart.

> He tried SOOOOOOOOO hard to do the tasks that the OT did with him

while

> being timed. He is not at all lazy. He wants to do good. But he

struggles.

>

> Nevertheless, it does seem we have really good news. The chances

for ph

> to develop severe eye issues and hearing issues as well as brain

atrophy are

> nearly NONE!!! Dr. Kastner and Dr. Goldbach-Mansky feel the

challenges we

> are dealing with now are most likely the only chances we will have

to deal

> with. They cannot promise this but they both told me to go home

and enjoy

> ph and focus on the issues we have now... and NOT to worry

about any new

> ones that may present !

>

> So, the prayers are working! Please keep on praying.

>

>

>