Re: Update on iel - suggestion

[Guest guest]

Hello Anita,

I feel your pain at docs who seem dismissive and don't even

condescend to read the chart prior to seeing a patient. At times

like these I often feel like raging against the machine - thank god

my husband is usually with me and reigns me in {LOL}. That being

said, even if iel doesn't have the appearance (asymmetry) you

should still pursue your concerns Re: RSS. Not all of these kids

have the same appearance - early on our doctors (endo and peds) were

fixated on the fact that did not seem to have asymmetry;

despite the fact that he has almost all of the other phenotypes that

describe the syndrome. At the very least iel falls well into

some category of SGA and needs to have special attention paid.

Persevere and good luck - you're a top notch mom to keep going back

to the drawing board!

Take good care

Charlene, mom to , 4yrs. RSS

>

> Well it's been awhile since I've posted. iel did have his

visit

> with the geneticist. It was quite frustrating. He only saw him for

> about 10 minutes ( because he had a meeting) and he didn't even

have

> his chart with him. So needless to say he had no reference point

for

> our situation. He then left me with the student and the genetic

> counselor. Before he walked out the room I said hey what about

what

> you think about him & Silver syndrome? His reply was why,

are

> you planning on having more kids? I said I don't know but I would

> still like to know. He then said let's wait for the GH stim test

> results. I was infuriated because those results are already back

and

> in his chart, if he would have waited til the counselor brung his

> chart he would have been able to see that. I attempted to address

all

> my questions and concerns with the counselor and med student but

all

> they could say was that's a good question you need to ask the

doctor

> about that( I thought that was what I came for!!LOL). She did

however

> say that she did not think he had it but she recomended a UPD7

test.

> She also said that the Geneticist wants a complete optical/visual

> exam done and results sent to him. I don't know what for. I am

> starting to feel like they are having me come in for no reason to

get

> the insurance to pay for these visits. Otherwise why are they

> prolonging telling me anything? We will see the Endo next month

and

> will probably begin GHT since he apparently isn't growing much.

She

> wnats us to see the Geneticist that works with her at the

children's

> hospital before we see her as well. At this point after following

> this listserve and getting to know a whole lot about RSS I really

> don't feel he has the look, even though he has some

characteristics.

> I however will still use the listserve as the recipes are great

for

> weight gain, and much of the other issues you all deal with we do

as

> well. Thank you all so much I mean it heartfeltedly, for all the

> support and for listening when noone else does. I will let you all

> know when we get a final diagnosis. Anita ( mom to iel 7y.o.

> 34lbs, 105.1cm)

>