RE: Questions about Colombomas

[Guest guest]

How often do children with Charge get Endocrine evaluations? If I saw the

same symptoms in the numerous children with optic nerve hypoplasia ( another

midline abnormality) some one would have ordered a endocrine evaluation.

Kristi

[Guest guest]

Very good questions. CHARGE is unique as a syndrome in that asymmetry is

common whereas most other syndromes the problems and features are

symmetrical. Good of you to pick up on that with this little boy. It seems

to me that any child having a coloboma and hearing loss should be evaluated

for possible CHARGE. There is a nice article by Blake et al that discusses

the major and minor characteristics of CHARGE and the current diagnostic

criteria. The information can also be found in the CHARGE Manual from the

CHARGE Syndrome Foundation. Perhaps this article could be shared with the

pediatrician. Perhaps with that new information he would be inclined to

refer to a geneticist.

On questions of the middle/inner ear: A CT scan of the middle ear can be

highly diagnostic when ruling out CHARGE, since some of the middle and inner

ear structural differences, such as undeveloped cochlea and semi-circular

canals, fused middle ear bones etc. can only be picked up via the CT.

These findings are highly predictive of CHARGE.

Does this child have other issues common with CHARGE, such as difficulty

swallowing, poor balance, low tone of the upper body, facial palsy, kidney

problems etc.

In my opinion, stress issues, such as ability to self-regulate emotional

state; how to screen new information for meaning and degree of threat at a

neurological level, how to make organized neural connections etc. seem to be

impacted, even in those kids who are highly functional. This can lead to

physiological responses to new stimuli, to pressure to stop a ritual, to too

much information coming in, or even to a change to the routine. For my

child his eyes become bloodshot, he gets an irregular flushing pattern, he

often gets cold sweats, and if the stress persists, he often gets migraines.

If the child has CHARGE or not, paying attention to his responses to minor

changes, keeping the environment calm and free of extraneous auditory and

visual stimuli, and giving him downtime for processing new information might

help him in the short term.

Kim Lauger

Mom to Dylan 7 CHaRGE, Kayla 12, Tyler 15

> I don't post very often but lurk in the background and read all the posts. I

> work with visually impaired 0-6 and currently serve a few families with

> CHARGErs. I wanted to run a question past all you experts.

> I saw a 3 1/2 year old today that I don't think has Charge but

> definitely has some Characteristics and I have some concerns and am not sure

> where to

> direct Mom since the Ped. wont refer her out to a specialist. The little guy

> has bilateral colombomas and one eye is extremely misaligned and small, he had

> a major speech delay and a hearing loss only on the left (this is also the

> side of the microthalmic eye). Ever since infancy Mom report extreme

> sensitivity

> on this side and recently he has numerous bouts of ear infections all being

> unilateral on the left. These ear infections or at least the fever with are

> coming almost instantly and in just a very short time the fever is going to

> 104

> and he is going into seizures. Meds are not bringing it down until he takes

> enormous doses of antibiotics. That is the history here are the questions.

> Since Colombomas are a mid-line problem how often do just colombomas get an

> Endocrine Evaluation I am wondering if he has a stress problem as he is always

> ill?

>

> How many kids have ears that appear normal looking on the out side but have

> structural problems on the inside?

>

> Sorry for such a long post,

> Kristi

>

>

>

[Guest guest]

Kristi-

One of the big " take-home " messages from the conference was -- " If your child

doesn't already have an endocrinologist-- get one! " Dr. Kim Blake was adamant

that our kids all need to be followed by endocrinology for many issues -- growth

and hormones -- puberty -- bone density -- etc. Even if our kids don't turn out

to be growth hormone deficient, issues with hormones are likely to interfere

with normal puberty, calcium and bone development, etc. She suggested that all

of the kids have an endocrinologist evaluate and follow them from as early as

possible then throughout life. This is all somewhat new knowledge based on Dr.

Blake's recent studies of adolescents with CHARGE so you won't find it

documented -- unless you got her session handouts from the conference.

We haven't been to an endocrinologist yet, so I don't know much. But I do know

that an evaluation is warranted. What is holding us back is locating a

knowledgable doctor who is worth going to. As you know, going to an

uncooperative, uninformed doctor can be a waste of time.

Michele W

mom to Aubrie (6 yrs) CHaRgE and (12 yrs)

Re: Questions about Colombomas

How often do children with Charge get Endocrine evaluations? If I saw the

same symptoms in the numerous children with optic nerve hypoplasia ( another

midline abnormality) some one would have ordered a endocrine evaluation.

Kristi

[Guest guest]

I don't know (have never been told) that 's ears are " abnormal " on the

inside, but they certainly look normal to me on the outside. My

sister-in-law, in peds, went with me to early med appointments ( is now

19); when the doctors talked about low-slung ears (or whatever), she thought

to suggest that they look at the rest of the family. Believe me, this wasn't

a way for her to say that there was a familial problem but rather that their

medical tendencies made them look endlessly for certain things (i.e., low

ears apparently can signal kidney difficulties).

I don't have your post in front of me but think I can address a few more

issues. For years, was " always " ill with ear infections (a few sinus

infections, etc., but usually ear). It took years to put together behavior

logs and medical issues. To this day, when she has an ear infection, she

will self abuse, hit herself, etc. This can even occur before a dr. can see

an infection. This has perhaps been one of the hardest things we've had to

TRY to handle.

Antibiotics: many years ago, had a staph resistant infection. She

wasn't yet at Perkins (with Boston's medical facilities - though I now doubt

that would have made a difference). We saw her very well trained ENT who

after months gave me lessons in using an ophthalmoscope and an open script

for antibiotics (I'm quite certain that he'd deny the latter under oath). I

watched her ears many times daily and finally KNEW when the infection was

ebbing. I say it took 18 months; my husband would say less time.

I hope this doesn't sound only negative. I am firmly convinced that the

way to handle these issues is through education, etc. If we older parents

can help, great.

Pam, I promise I won't keep calling on you. However, you've seen

and others and perhaps have a larger view of the issues. Please jump in!

Please feel free to email me with questions. I truly know how hard the

infections, etc are. I would have given anything if we had had help from

people who had gone before us!

Martha

[Guest guest]

Michele

Thanks for the info on endo. that is what I was looking for.

Luckily this chills Ophthalmologist will listen and make a referral back to

primary so at least I have an avenue to go.

Do you have a way to reach Dr. Blake.

Another question: One of the CHARGErs I work with has DI any one have

experience with this?

Thanks for everyone's help!

Kristi

[Guest guest]

> Michele

> Thanks for the info on endo. that is what I was looking for.

> Luckily this chills Ophthalmologist will listen and make a referral back to

> primary so at least I have an avenue to go.

> Do you have a way to reach Dr. Blake.

>

> Another question: One of the CHARGErs I work with has DI any one have

> experience with this?

>

> Thanks for everyone's help!

> Kristi

>

>

>

[Guest guest]

> Michele

> Thanks for the info on endo. that is what I was looking for.

> Luckily this chills Ophthalmologist will listen and make a referral back to

> primary so at least I have an avenue to go.

> Do you have a way to reach Dr. Blake.

>

> Another question: One of the CHARGErs I work with has DI any one have

> experience with this?

>

> Thanks for everyone's help!

> Kristi

>

>

>

[Guest guest]

I don't have Dr Blake's info, but I know and some others do. ??

I don't know what DI is.

Michele

Re: Questions about Colombomas

Michele

Thanks for the info on endo. that is what I was looking for.

Luckily this chills Ophthalmologist will listen and make a referral back to

primary so at least I have an avenue to go.

Do you have a way to reach Dr. Blake.

Another question: One of the CHARGErs I work with has DI any one have

experience with this?

Thanks for everyone's help!

Kristi

[Guest guest]

Di is different from CHARGE. Not different, exactly, just added to it, I

guess. So most of our kids with " plain ol' CHARGE " wouldn't have the issues

had.

Michele W

Re: Questions about Colombomas

> Michele

> Thanks for the info on endo. that is what I was looking for.

> Luckily this chills Ophthalmologist will listen and make a referral back to

> primary so at least I have an avenue to go.

> Do you have a way to reach Dr. Blake.

>

> Another question: One of the CHARGErs I work with has DI any one have

> experience with this?

>

> Thanks for everyone's help!

> Kristi

>

>

>

[Guest guest]

Di is different from CHARGE. Not different, exactly, just added to it, I

guess. So most of our kids with " plain ol' CHARGE " wouldn't have the issues

had.

Michele W

Re: Questions about Colombomas

> Michele

> Thanks for the info on endo. that is what I was looking for.

> Luckily this chills Ophthalmologist will listen and make a referral back to

> primary so at least I have an avenue to go.

> Do you have a way to reach Dr. Blake.

>

> Another question: One of the CHARGErs I work with has DI any one have

> experience with this?

>

> Thanks for everyone's help!

> Kristi

>

>

>

[Guest guest]

Martha,

I am not sure I can add much--I think with as a perfect example of how

these kids can have problems that don't show up like in other people which can

cause havoc. , as well as others of our CHARGE kids, develop (and keep!)

ear infections forever, it seems. If you, as parents, and of course the

teachers,etc. can learn to recognize the early signals, then the kids can be

spared. Martha, as we know with Kate, her behaviors as a perfect signal that

something is happening long before the redness shows. It is the same with other

kids--they start to act in ways we don't expect (except when they are not

feeling well or they are upset), we don't always pay attention and just think it

is " bad mood " and it goes on for a few days, then, " Boom! " ear infection.

Getting treatment or at least letting the doc. know that you have seen this time

and time again (and remind him/her how many times you have called!!) and helping

him/her also become an advocate for our kids is the best defense. Does this

make sense???

Anyway, was there anything more specific Martha? Oh, I wanted to add, also,

that we have had several kids over the years who have ended up having

mastoidectomies because of the infections and how they affect the inner ear.

ONce they had the mastoidectomy, infections appeared to end! Perhaps one every

now and then, but not with the frequency prior to surgery. And... several of

the kids also seemed to " grow out " of their ear infections with no surgical

procedures--go figure!!

Now, I am rambling!!

pam