RE: Re:Pushing for all the care you can get!

[Guest guest]

Hi Everyone,

Short update in the search of truth on ’s behalf. Had a blunt

conversation with our pediatrician tonight, I’d dropped off the sample

requisition from genedx yesterday for him to add pertinent info for results

to be sent to his office, I was opting for the self pay method and the swabs

are on their way to my home as we speak. (LOL) When I dropped off the req I

also obtained copies of most recent labs for my referral to NIH and I asked

the MD if he’d like to play a role in the process. The long and short of it

is he has decided to investigate doing the genetic testing through typical

government paid channels. (last week he reversed his earlier decision to

refer us to a geneticist, and opted for a rheumatologist) He has also

resigned himself to letting me review his consult letter and make necessary

changes prior to giving me a copy to send with labs to Dr Kastners office in

hopes of a future appointment.

All this came about after we discussed his earlier impressions of my

Munchausen by proxie issues. Yes indeed I confronted him on the less than

professional way I’d been treated by several referred specialists over the

past three years and he admitted to not painting the best picture of me. (He

gave underhanded apology for same.) He’d felt all of ’s immune issues

were due to her anemia and wondered if I had been giving her the iron

supplements, as it never resolved under his care. (It resolved with methods

outside his care that I initiated after being abandoned by local medical

professionals) As we now know not likely or ever shown that her intense

fevers and other symptoms could have ever been a result of her now resolved

anemia.( Fevers and severe pain have never been a big focus in his treatment

plan)

I expressed to him that I still sense he feels I have Munchausen issues,

because I am wanting to do the genetic tests when he has given me the

diagnosis. He did not deny this. I informed him that I’d feel like a pretty

bad parent to not search every avenue when my child does not fully meet the

profile. I reminded him of our previous visit when was sick and I

had to carry her in and out of his office and she cried out in pain with

many tears with each movement. Or the fact that she has chest pain, shooting

eye pain and light sensitivity, and that none of this is typical of ..

I don’t want her as a young adult to suffer from the aftermath of

potentially inefficient care in her younger years.

The poor guy caved to the pressure, but added he’d never assist or support

me in far out things like blood mercury testing. I still don’t know if we

are on the same page, but we have both been very honest(?). I’m hoping when

all is said and done I won’t feel so strongly that I need or want an apology

for the slip–shot care over the past five years. Ernest help may soften old

wounds.

Well I’ve been wordy enough. Uncertain how much sense I’ve made. Thanks for

any moral support.

Walton

(5) (?)

Nanaimo BC Canada

Re: Re: One more question to anyone out there!

More docs than not will rule out cyclic neutropenia (especially this

disorder) before confirming . There are other disorders like the

genetic disorders which should be ruled out also.

However we have some people here who have docs who refuse to test DNA....

and the family accepts the diagnosis of .

But keep a note that we have had about 10 children come to us with probable

and later their parents insisted on further testing and found out

their kids had genetic disorders which need to be monitored closely and

treated differently for the most part.

You as a parent need to assert yourself if you think you should.

The symptoms are all similar with all the disorders.

God Bless,

Fran

Fran A Bulone

Mom to ph 5 yrs old

Waxhaw, NC

Owner & Moderator Group

[Guest guest]

I know exactly how you feel and you have my moral support!!! I'm a younger

Mom, I had Gabe when I was 21. Not to young but I look about 16. I have had

doctors brush me off like I'm some kid who is just over reacting. I have

changed doctors several times and this last year I finally found one that is

willing to listen and do all she can for Gabe. I just wanted to tell you to

hang in there and I know how frustrating it could be. Did any of your doctors

say what the light sensitivity could be from? My son has the same symptom

which none of his doctors (we have specialist we see both at Kaiser and

Stanford) seem to think that was anything to worry about. This is the first

time I

have seen that another child has this on this board. Also his doctors don't

think that he has , they thought he did at the start of all this.

Good Luck with the doctor issue,

[Guest guest]

Wow, my son gets rashes too. We have not tried any steroids yet. One

specialist wanted to give them to him but he just had it in his head that he

had

without really hearing me out so I decided to wait on the steroids.

When has shooting pains is that only in the sun or is that at anytime

inside or out. My son has complained his eyes hurt but that is only when he

was

outside and I figured it was because of his sensitivity not actual pain. Gabe

also has really cute sunglasses that his little brother likes to steal and

wear upside-down:) Could you also tell me about 's rashes? My son get

raised pink rashes that are about 1 inch long usually on his back. And he

usually only gets one or two at a time. Does your daughter get Mouth sores?

My

son gets mouth sores with or without a fever usually every month. His last

fever was in April it was 105, this is the longest he has gone without a fever

since he was 18 months old, knock on wood!!!

Thanks for writing back I usually don't get any responses and that hurts my

feelings sometimes .

Have a great day

[Guest guest]

Hi ,

Thanks for hearing my plea! The light sensitivity is common in some of the

genetic disorders, like TRAPS and FMF. has enjoyed wearing sunglasses

while sick since she was a baby. (I bought the cutest pair when was a

few months old at Baby Gap) I didn’t realize she was having actual

“shooting” eye pain until she was old enough to vocalize it effectively to

me. We have also had an increase in rashes, that vary in location, since we

started on the Cimetidine. has had the occasional rash with no

noticeable pattern before, but very infrequent, and now we have them with

every episode. It’s scary to see the changing of symptoms over the years,

just when I think I get a handle on things they change.

Hope things are going well for you now.

Walton

(5) (?)

Nanaimo BC

Re: Re:Pushing for all the care you can get!

I know exactly how you feel and you have my moral support!!! I'm a younger

Mom, I had Gabe when I was 21. Not to young but I look about 16. I have

had

doctors brush me off like I'm some kid who is just over reacting. I have

changed doctors several times and this last year I finally found one that

is

willing to listen and do all she can for Gabe. I just wanted to tell you

to

hang in there and I know how frustrating it could be. Did any of your

doctors

say what the light sensitivity could be from? My son has the same symptom

which none of his doctors (we have specialist we see both at Kaiser and

Stanford) seem to think that was anything to worry about. This is the

first time I

have seen that another child has this on this board. Also his doctors

don't

think that he has , they thought he did at the start of all this.

Good Luck with the doctor issue,

[Guest guest]

Hi ,

has the eye concerns both in light and in dark environments. It can be

late evening with minimal lighting and she will have pain and even request I

turn the TV off because the light bothers her at that moment. ’s rashes

vary, never in the same place or in quite the same form. Sometimes raised

red bumps on face or bottom. Once tiny pin prick like red spots on chest and

most recently non raised quarter sized rashes (4) with a red rim and a dry

almost yellow appearing center.

does get mouthsores with fever episodes, but it has never been a

massive concern other than avoiding salty food and her favorite Ketsup!

Thanks for responding.

Walton

(5) (?)

Nanaimo BC

Re: Re:Pushing for all the care you can get!

Wow, my son gets rashes too. We have not tried any steroids yet. One

specialist wanted to give them to him but he just had it in his head that

he had

without really hearing me out so I decided to wait on the steroids.

When has shooting pains is that only in the sun or is that at anytime

inside or out. My son has complained his eyes hurt but that is only when

he was

outside and I figured it was because of his sensitivity not actual pain.

Gabe

also has really cute sunglasses that his little brother likes to steal and

wear upside-down:) Could you also tell me about 's rashes? My son get

raised pink rashes that are about 1 inch long usually on his back. And he

usually only gets one or two at a time. Does your daughter get Mouth

sores? My

son gets mouth sores with or without a fever usually every month. His last

fever was in April it was 105, this is the longest he has gone without a

fever

since he was 18 months old, knock on wood!!!

Thanks for writing back I usually don't get any responses and that hurts my

feelings sometimes .

Have a great day