RE: how do you forgive doctors for making mistakes?

[Guest guest]

Chrystal,

I can believe that all you're hearing is terribly frustrating. I see that

Noonan's has some

markers to help with that diagnosis. (I happened to look at wikipedia.)

You know- no name, no doctor, no relative can violate what you know about

your

daughter, and what you know about providing the best care for her.

It is a stupid, insulting and unfortunate situation when the professionals

are all

iffy about things, especially after this much time.

But in the end, they are speaking from reason and the mind. We succeed with

our care because we listen to our heart and our gut so well. And no name is

going to alter that.

Maybe a name limits their ability to see afterall. Perhaps the

professionals will

do better without a bunch of preconceived notions that accompany any label.

Remember your strenghts and hers, and let this too make you stronger.

And don't stay away-come and vent!!! Nothing changes that either.

;-)

in Ma.

************************************** See what's free at http://www.aol.com.

[Guest guest]

Chrystal,

The absence of colobomas doesn't negate the CHARGE diagnosis (although it is

one of the 'red flags' geneticists would notice which would point to

CHARGE). Has Chrystine had the genetic testing done for the CHD7 gene?

That might help settle things.

Sorry to hear you're feeling lost at the moment...

Hugs,

Personal Web Site:

http://chargesyndrome.info

The Adventures of Kennedy Blog:

http://chargesyndrome.blogspot.com

Secretary, CHARGE Syndrome Foundation Inc:

http://www.chargesyndrome.org

Email:

lisa@...

" It is far better to grasp the universe as it really is than to persist in

delusion, however satisfying and reassuring. " --Carl Sagan

[Guest guest]

Chrystal -

I hear your intense frustration and feelings of helplessness and

hopelessness. Hang in there. It's quite possible that your 3 drs are all

wrong and that does have colobomas. Even if she doesn't, that

doesn't mean she doesn't have CHARGE. Sure, colobomas are common in CHARGE,

but there are many other eye anomalies that go with CHARGE as well - and not

all kids with CHARGE have colobomas. You said, the anomaly is now noted in

her retina. That doesn't mean that it wasn't always there - it could mean

this is the first that someone has seen it there. Coloboma can affect any

or all areas of the eye. They are so rare that it's not unlikely that none

of your doctors have seen them before - or if they have seen them, the other

cases were different enough that they don't see the resemblance to the

presentation in .

Have you sent a photo to Meg? I'll bet she can look at some photos and

either reassure you that is all CHARGE or confirm that there is

cause to look further. Either way may settle your stomach a bit.

I'm so sorry for your upset and angst. I hope you get good answers soon.

We don't drive 5 hours, but we do drive several hours in many different

directions for our specialists. It can feel like you are running like a

chicken with it's head cut off!

Take care, find a way to relax, breathe, and let us know how things

progress.

Hugs-

Michele W

Aubrie's mom 9 yrs

[Guest guest]

Chrystal:

Don't let the " change " in the eye diagnosis get to you. I've never heard of

a coloboma growing; but there can be retinal detachment. That is totally

different. We were told from infancy that " only has a small left

retinal coloboma that won't effect her vision " . We recently changed

opthalmologists, and he noted the left retinal coloboma, as well as adding

that she has a right hypoplastic (underdeveloped) optic disc and a miniscule

coloboma in that as well. She will be 15 in July and we've had routine

ophthalmology exams each year and these right eye issues were never noted to

us before, nor have they been in any written reports. I know the

right-sided issues have been there all along - a coloboma doesn't just

happen! - but they were never noted or reported on before.

It could be the medical professionals really feel they aren't sure of a

diagnosis - or they could be doing the ol' C.Y.A. (Cover you're a_ _.)

Either way, you know what Chrystine's problems are.and aren't! How many

times have we heard that the parent " diagnoses " their child? Unfortunately,

too many times. Whatever the medical professionals decide, know that you

are always welcome here to find the answers, support, fellow celebrants of

the little things, and shoulders to cry on whenever you need them.

I would send Meg Hefner a photo. When we went to the Portland conference,

didn't go; but I took her baby book with me. Dr. Davenport

(has worked closely with Meg on CHARGE) took one look and said that

's was " most definitely " an appropriate CHARGE diagnosis. I know

that Meg could settle the question for you.

We also went through the family not quite getting it. My in-laws even told

my husband that they thought I was LOOKING for things to be wrong! I was

being proactive to avoid getting hit out of nowhere with something new. (It

still happens: The getting struck from the blue!) My in-laws have changed.

Whenever I indicate something needs checked, they don't question any more.

I'd rather have something checked and it be nothing, than to ignore advice

and find I've somehow inflicted more problems on that could have

been avoided. And it is soooo nice to have someone tell you after checking

that there is no problem!

I wish you luck with the professionals. When they don't want to answer,

they are very good at side-stepping!

Friends in CHARGE,

Marilyn Ogan

Mom of (14, CHARGE+, JRA)

Mom of Ken (17, Asperger's)

Wife of Rick

oganm@...

[Guest guest]

sarah could tell us wat its called r u there sarah but i have colabomas that

u cant see with out dilating my pupils and drs who ont know like med

sutdents with out the pupils dilated will say its a cateract wich funnily

enough one med said it and my paed said no cateracts but a few years later

my eye drs found a small one bu i do know of chargers wit out the colabomas

doesnt mean they dont have charge and as for her kidneys that is a charge

thing to i acutlay have one lareger thean trhe other and have had bad utis

in the past hugs ellen soon to b 22

>

> Chrystal:

>

> Don't let the " change " in the eye diagnosis get to you. I've never heard

> of

> a coloboma growing; but there can be retinal detachment. That is totally

> different. We were told from infancy that " only has a small left

> retinal coloboma that won't effect her vision " . We recently changed

> opthalmologists, and he noted the left retinal coloboma, as well as adding

> that she has a right hypoplastic (underdeveloped) optic disc and a

> miniscule

> coloboma in that as well. She will be 15 in July and we've had routine

> ophthalmology exams each year and these right eye issues were never noted

> to

> us before, nor have they been in any written reports. I know the

> right-sided issues have been there all along - a coloboma doesn't just

> happen! - but they were never noted or reported on before.

>

> It could be the medical professionals really feel they aren't sure of a

> diagnosis - or they could be doing the ol' C.Y.A. (Cover you're a_ _.)

> Either way, you know what Chrystine's problems are.and aren't! How many

> times have we heard that the parent " diagnoses " their child?

> Unfortunately,

> too many times. Whatever the medical professionals decide, know that you

> are always welcome here to find the answers, support, fellow celebrants of

> the little things, and shoulders to cry on whenever you need them.

>

> I would send Meg Hefner a photo. When we went to the Portland conference,

> didn't go; but I took her baby book with me. Dr. Davenport

> (has worked closely with Meg on CHARGE) took one look and said that

> 's was " most definitely " an appropriate CHARGE diagnosis. I know

> that Meg could settle the question for you.

>

> We also went through the family not quite getting it. My in-laws even told

> my husband that they thought I was LOOKING for things to be wrong! I was

> being proactive to avoid getting hit out of nowhere with something new.

> (It

> still happens: The getting struck from the blue!) My in-laws have changed.

> Whenever I indicate something needs checked, they don't question any more.

> I'd rather have something checked and it be nothing, than to ignore advice

> and find I've somehow inflicted more problems on that could have

> been avoided. And it is soooo nice to have someone tell you after checking

> that there is no problem!

>

> I wish you luck with the professionals. When they don't want to answer,

> they are very good at side-stepping!

>

> Friends in CHARGE,

>

> Marilyn Ogan

>

> Mom of (14, CHARGE+, JRA)

>

> Mom of Ken (17, Asperger's)

>

> Wife of Rick

>

> oganm@...

>

>

[Guest guest]

Chrystal,

Let me begin by saying that your feelings of frustration are completely valid.

You have every right to be upset about what is going on with Chrystine--here you

have been given and accepted a diagnosis, and now the rug is being pulled out

from under you with suggestions of a different one.

What does the ophthalmologist mean exactly when she says the coloboma has

grown? Is Chrystine's vision worse? Or does it physically look bigger? Are

there photos documenting the change? Is it the same practitioner who has been

evaluating her that decided they were changing?

As a professional (I am an optometrist), I have to admit that eye conditions

can look very different in different cases. I have not seen Chrystine's eyes,

so I can't comment specifically if her colobomas were mis-diagnosed or not. But

I can speak in general about how practitioners are trained to diagnose things.

In school, you learn characteristics of a disorder and you see pictures in a

textbook. But it is with the understanding that what you will see out in

practice can look very different. You learn to put together a list of potential

diagnoses, and then you pick the one that fits the best--the one that is most

likely. History (the description of the problem--includes the duration,

severity, which eye, any modifying factors) plays a huge role in making the

diagnosis. I would be lying if I said that I make it through a single day in my

practice where I was absolutely 100% sure about everything I saw or did that day

(and if you are thinking it's because I'm not a very good practitioner, my

residency mentor--who had been in practice for over 20 years and was an

excellent doctor--told me this very thing at the end of my first week as a

resident). Medicine is unfortunately not black and white--there are lots of

gray areas. Even something that seems as absolute as a lab result

has an associated uncertainty. Every case, every visit involves a judgment

call on the part of the practitioner--taking the peices and putting it together

in the most logical way.

Again, if in Chrystine's case there was a legitimate mis-diagnosis I am not

trying to defend these doctors. But I can almost imagine how the original

ophthalmology consult went: I can see the ophthalmologist getting a history of

an infant that has several features suggestive of possibly CHARGE Syndrome, and

the primary doctor wants to rule-out or confirm a coloboma. The ophthalmologist

looks, and the nerves do not look normal. Maybe not " textbook " for a coloboma,

but when the history is considered that is the diagnosis that fits the best.

I wish I had a good answer to give you. Do her doctors have the list of

diagnositic criteria from the CHARGE Syndrome web page? Maybe if they look at

all the major and minor features, she still has enough for the clinical

diagnosis. The lack of a CHD7 gene mutation doesn't mean she can't have CHARGE.

(mom to Evan, 23 months)

CJCRITES@... wrote:

Recently, I was told that after a year Chrystine's colobomas seems to

have

" grown " ?She has been seeing her opthamologist here in ton since age 4

months. I was floored, knowing that colobomas don't grow... She supposedly had

or HAS bilateral optical nerve colobomas. So, I decided to get a 2nd

opinion. I drove her to the Eye INstitute in town, WV. 2 more

opthamologists

look at me and tell me-you know-i don't know what it is. But, apparently the

anomaly is now noted in her retina as well. I'm taking her back to Cincinnati

Children's for a 3rd opinion. I already have to drive her 5 hours away for a

urologist, nephrolgist, cardiologist, geneticist, feeding team... I thought

at the very least, I could trust an West Virginian opthamolgist. But, I guess

I can't. She is saying, Well, I don't know what Chrystine's eye anomaly is.

I haven't spoken on here lately, cause I am feeling so lost. It's that

funny feeling in my stomach before I found this home in Charge. They're talking

about Noonan Syndrome. I'm not convinced.

I'm from small town WV, of course. It was soooo hard to get my family and

friends to accept Charge. Around here,everyone knows everyone and new ideas

aren't easily understood. They figured that doctors didn't know what was really

wrong with Chrystine, so they named it Charge, but deep down most think there

is something more serious. I have had to literally fight a couple family

members to get them to understand that Charge is something broader than a word

or a label.

I can't accept that doctors could have been wrong and that every minute I've

devoted to learning and teaching about Chrystine's core syndrome was in

vain. I suppose there is a chance that docs in Cincinnati could confirm the

colobomas diagnosis-

I have had problem after problem with doctors since her birth. I'm scared

they'll lie and say it's anything to avoid a potential lawsuit. I have no

intention of suing, let me make that clear. But, WV is or was the leading state

where doctors were being sued for malpractice and I strongly feel that's the

reason that this state is lacking any suitable care and that the state's people

have little trust in their doctors.

So, what do I do? I'm starting to think that Chrystine's 3 West Virginian

opthamologists don't know (as the saying goes) their butts from a hole in the

ground. What if she doesn't have colobomas at all? Then, it's not Charge. And,

to me that's just WRONG. It's been over a year. I'm really hurt about this.

Chrystal

************************************** See what's free at http://www.aol.com.

[Guest guest]

sarah wish u were my dr though i am content with my man ive got but hes

kinda getting old lol

>

> Chrystal,

>

> Let me begin by saying that your feelings of frustration are completely

> valid. You have every right to be upset about what is going on with

> Chrystine--here you have been given and accepted a diagnosis, and now the

> rug is being pulled out from under you with suggestions of a different one.

>

> What does the ophthalmologist mean exactly when she says the coloboma has

> grown? Is Chrystine's vision worse? Or does it physically look bigger? Are

> there photos documenting the change? Is it the same practitioner who has

> been evaluating her that decided they were changing?

>

> As a professional (I am an optometrist), I have to admit that eye

> conditions can look very different in different cases. I have not seen

> Chrystine's eyes, so I can't comment specifically if her colobomas were

> mis-diagnosed or not. But I can speak in general about how practitioners are

> trained to diagnose things.

>

> In school, you learn characteristics of a disorder and you see pictures in

> a textbook. But it is with the understanding that what you will see out in

> practice can look very different. You learn to put together a list of

> potential diagnoses, and then you pick the one that fits the best--the one

> that is most likely. History (the description of the problem--includes the

> duration, severity, which eye, any modifying factors) plays a huge role in

> making the diagnosis. I would be lying if I said that I make it through a

> single day in my practice where I was absolutely 100% sure about everything

> I saw or did that day (and if you are thinking it's because I'm not a very

> good practitioner, my residency mentor--who had been in practice for over 20

> years and was an excellent doctor--told me this very thing at the end of my

> first week as a resident). Medicine is unfortunately not black and

> white--there are lots of gray areas. Even something that seems as absolute

> as a lab result

> has an associated uncertainty. Every case, every visit involves a judgment

> call on the part of the practitioner--taking the peices and putting it

> together in the most logical way.

>

> Again, if in Chrystine's case there was a legitimate mis-diagnosis I am

> not trying to defend these doctors. But I can almost imagine how the

> original ophthalmology consult went: I can see the ophthalmologist getting a

> history of an infant that has several features suggestive of possibly CHARGE

> Syndrome, and the primary doctor wants to rule-out or confirm a coloboma.

> The ophthalmologist looks, and the nerves do not look normal. Maybe not

> " textbook " for a coloboma, but when the history is considered that is the

> diagnosis that fits the best.

>

> I wish I had a good answer to give you. Do her doctors have the list of

> diagnositic criteria from the CHARGE Syndrome web page? Maybe if they look

> at all the major and minor features, she still has enough for the clinical

> diagnosis. The lack of a CHD7 gene mutation doesn't mean she can't have

> CHARGE.

>

> (mom to Evan, 23 months)

>

> CJCRITES@... wrote:

> Recently, I was told that after a year Chrystine's colobomas seems to have

>

> " grown " ?She has been seeing her opthamologist here in ton since age

> 4

> months. I was floored, knowing that colobomas don't grow... She supposedly

> had

> or HAS bilateral optical nerve colobomas. So, I decided to get a 2nd

> opinion. I drove her to the Eye INstitute in town, WV. 2 more

> opthamologists

> look at me and tell me-you know-i don't know what it is. But, apparently

> the

> anomaly is now noted in her retina as well. I'm taking her back to

> Cincinnati

> Children's for a 3rd opinion. I already have to drive her 5 hours away for

> a

> urologist, nephrolgist, cardiologist, geneticist, feeding team... I

> thought

> at the very least, I could trust an West Virginian opthamolgist. But, I

> guess

> I can't. She is saying, Well, I don't know what Chrystine's eye anomaly

> is.

>

> I haven't spoken on here lately, cause I am feeling so lost. It's that

> funny feeling in my stomach before I found this home in Charge. They're

> talking

> about Noonan Syndrome. I'm not convinced.

>

> I'm from small town WV, of course. It was soooo hard to get my family and

> friends to accept Charge. Around here,everyone knows everyone and new

> ideas

> aren't easily understood. They figured that doctors didn't know what was

> really

> wrong with Chrystine, so they named it Charge, but deep down most think

> there

> is something more serious. I have had to literally fight a couple family

> members to get them to understand that Charge is something broader than a

> word

> or a label.

>

> I can't accept that doctors could have been wrong and that every minute

> I've

> devoted to learning and teaching about Chrystine's core syndrome was in

> vain. I suppose there is a chance that docs in Cincinnati could confirm

> the

> colobomas diagnosis-

> I have had problem after problem with doctors since her birth. I'm scared

> they'll lie and say it's anything to avoid a potential lawsuit. I have no

> intention of suing, let me make that clear. But, WV is or was the leading

> state

> where doctors were being sued for malpractice and I strongly feel that's

> the

> reason that this state is lacking any suitable care and that the state's

> people

> have little trust in their doctors.

>

> So, what do I do? I'm starting to think that Chrystine's 3 West Virginian

> opthamologists don't know (as the saying goes) their butts from a hole in

> the

> ground. What if she doesn't have colobomas at all? Then, it's not Charge.

> And,

> to me that's just WRONG. It's been over a year. I'm really hurt about

> this.

>

> Chrystal

>

> ************************************** See what's free at

> http://www.aol.com.

>

>

[Guest guest]

Heh, I wish you had my doctor over in the US. He can spot a coloboma from

anything and its hte first thing he notices if theres someone on tv or in

the newspaper with one

im sorry your going through this

" hugs "

>

> sarah wish u were my dr though i am content with my man ive got but hes

> kinda getting old lol

>

>

> On 21/06/07, Key Storrs

evansmomndad@...>

> wrote:

> >

> > Chrystal,

> >

> > Let me begin by saying that your feelings of frustration are completely

> > valid. You have every right to be upset about what is going on with

> > Chrystine--here you have been given and accepted a diagnosis, and now

> the

> > rug is being pulled out from under you with suggestions of a different

> one.

> >

> > What does the ophthalmologist mean exactly when she says the coloboma

> has

> > grown? Is Chrystine's vision worse? Or does it physically look bigger?

> Are

> > there photos documenting the change? Is it the same practitioner who has

> > been evaluating her that decided they were changing?

> >

> > As a professional (I am an optometrist), I have to admit that eye

> > conditions can look very different in different cases. I have not seen

> > Chrystine's eyes, so I can't comment specifically if her colobomas were

> > mis-diagnosed or not. But I can speak in general about how practitioners

> are

> > trained to diagnose things.

> >

> > In school, you learn characteristics of a disorder and you see pictures

> in

> > a textbook. But it is with the understanding that what you will see out

> in

> > practice can look very different. You learn to put together a list of

> > potential diagnoses, and then you pick the one that fits the best--the

> one

> > that is most likely. History (the description of the problem--includes

> the

> > duration, severity, which eye, any modifying factors) plays a huge role

> in

> > making the diagnosis. I would be lying if I said that I make it through

> a

> > single day in my practice where I was absolutely 100% sure about

> everything

> > I saw or did that day (and if you are thinking it's because I'm not a

> very

> > good practitioner, my residency mentor--who had been in practice for

> over 20

> > years and was an excellent doctor--told me this very thing at the end of

> my

> > first week as a resident). Medicine is unfortunately not black and

> > white--there are lots of gray areas. Even something that seems as

> absolute

> > as a lab result

> > has an associated uncertainty. Every case, every visit involves a

> judgment

> > call on the part of the practitioner--taking the peices and putting it

> > together in the most logical way.

> >

> > Again, if in Chrystine's case there was a legitimate mis-diagnosis I am

> > not trying to defend these doctors. But I can almost imagine how the

> > original ophthalmology consult went: I can see the ophthalmologist

> getting a

> > history of an infant that has several features suggestive of possibly

> CHARGE

> > Syndrome, and the primary doctor wants to rule-out or confirm a

> coloboma.

> > The ophthalmologist looks, and the nerves do not look normal. Maybe not

> > " textbook " for a coloboma, but when the history is considered that is

> the

> > diagnosis that fits the best.

> >

> > I wish I had a good answer to give you. Do her doctors have the list of

> > diagnositic criteria from the CHARGE Syndrome web page? Maybe if they

> look

> > at all the major and minor features, she still has enough for the

> clinical

> > diagnosis. The lack of a CHD7 gene mutation doesn't mean she can't have

> > CHARGE.

> >

> > (mom to Evan, 23 months)

> >

> > CJCRITES@... wrote:

> > Recently, I was told that after a year Chrystine's colobomas seems to

> have

> >

> > " grown " ?She has been seeing her opthamologist here in ton since

> age

> > 4

> > months. I was floored, knowing that colobomas don't grow... She

> supposedly

> > had

> > or HAS bilateral optical nerve colobomas. So, I decided to get a 2nd

> > opinion. I drove her to the Eye INstitute in town, WV. 2 more

> > opthamologists

> > look at me and tell me-you know-i don't know what it is. But, apparently

> > the

> > anomaly is now noted in her retina as well. I'm taking her back to

> > Cincinnati

> > Children's for a 3rd opinion. I already have to drive her 5 hours away

> for

> > a

> > urologist, nephrolgist, cardiologist, geneticist, feeding team... I

> > thought

> > at the very least, I could trust an West Virginian opthamolgist. But, I

> > guess

> > I can't. She is saying, Well, I don't know what Chrystine's eye anomaly

> > is.

> >

> > I haven't spoken on here lately, cause I am feeling so lost. It's that

> > funny feeling in my stomach before I found this home in Charge. They're

> > talking

> > about Noonan Syndrome. I'm not convinced.

> >

> > I'm from small town WV, of course. It was soooo hard to get my family

> and

> > friends to accept Charge. Around here,everyone knows everyone and new

> > ideas

> > aren't easily understood. They figured that doctors didn't know what was

> > really

> > wrong with Chrystine, so they named it Charge, but deep down most think

> > there

> > is something more serious. I have had to literally fight a couple family

> > members to get them to understand that Charge is something broader than

> a

> > word

> > or a label.

> >

> > I can't accept that doctors could have been wrong and that every minute

> > I've

> > devoted to learning and teaching about Chrystine's core syndrome was in

> > vain. I suppose there is a chance that docs in Cincinnati could confirm

> > the

> > colobomas diagnosis-

> > I have had problem after problem with doctors since her birth. I'm

> scared

> > they'll lie and say it's anything to avoid a potential lawsuit. I have

> no

> > intention of suing, let me make that clear. But, WV is or was the

> leading

> > state

> > where doctors were being sued for malpractice and I strongly feel that's

> > the

> > reason that this state is lacking any suitable care and that the state's

> > people

> > have little trust in their doctors.

> >

> > So, what do I do? I'm starting to think that Chrystine's 3 West

> Virginian

> > opthamologists don't know (as the saying goes) their butts from a hole

> in

> > the

> > ground. What if she doesn't have colobomas at all? Then, it's not

> Charge.

> > And,

> > to me that's just WRONG. It's been over a year. I'm really hurt about

> > this.

> >

> > Chrystal

> >

> > ************************************** See what's free at

> > http://www.aol.com.

> >

> >