Re: re previous post of quetion from a new member

[Guest guest]

Ann,

Abby's head is a little large for her body but not normal size from what I'm

told. This may be the one trait that prevents the RSS diagnosis because RSS

kids are supposed to have a head that is normal size for their age with a

small body. I'll let you know what Dr. H says though. She has every other

trait except asymmetry which occurs in approx. 65-80% of RSS kids, and her

pinkie is only very slightly curved.

As far as a diagnosis, the Endo or the geneticist will most likely be the

ones to diagnose but you should know that different Drs disagree. if you

can look back to some old posts, we had a long conversation in which I

suggested that there are actually a few variations w/i the RSS diagnosis.

One study I read suggested syndrome and Silver Syndrome be two

classifications. There may be 3 or 4. The similarities suggest to me that

they are on the same chromosome or from similar circumstances. Our

geneticist thinks that in 5-10 years we'll know where it comes from. For

now though, the diagnosis depends upon who you see and how much or little

they know. I feel though that despite a few variations, our kids are

similar enough that they, for now, all fall under the RSS diagnosis-until

that diagnosis branches off into 2 or more categories. Don't know if that

made sense. That's just my take on it.

I just have my messages come through e-mail.

Take care!

Kathleen (Mom to Abby--15 mos, 12 lbs. 12 oz, 25 in., not officially

diagnosed RSS yet)

re previous post of quetion from a new member

>From: AKnight322@...

>

>Hi everyone!

>I recently raised a question to the members of the list

>as to whether or not I should share the web site addres

>with Blair's Dietician,ie. health care provider. She is

>a very sweet person and wants to learn more about RSS, as

>she has had no experience with anyone with that diagnosis-

>however I tend to agree with Kathleen's remarks about how

>it might intimidate members from being as verbal about

>doctors and other health care providers. Therefore, I will

>take Kathleen's advice and simply share pertinent infor-

>mation with the Dietician that I think will be helpful to

>her. Keep in mind now that Blair does not have a diagnosis

>of RSS as yet. However, the more I read your stories and

>experiences, the more I see my Blair being described.

>Especially when it comes to the feeding situation. As far

>as I am concerned Blair has a very poor appetite, except

>perhaps when it comes to her formula. She is still on

>Nutramigen, more concentratd so as to increase calories.

>My mother(Blair's great-grandmother also sees this as a

>problem. But when I speak to Blair's mother, she sometimes

>reports that Blair is really eating now. I do think that

>she is somewhat in denial about this though. In case you

>are wondering, Blair is my son's child and he and the mother

>are not together. To refresh those of you who may not have

>seen my very first post: The characteristics of RSS that I

>notice in Blair are: a small chin, IUGR, poor growth since

>birth, poor appetite, high energy, and I was told the pedendo

>says she notes incurved 5th fingers. Oh, and also she had

>severe reflux when younger, and she has had quite a number

>of ear infections. Based on all of this information, do you

>guys think it is reasonable to at least suspect RSS. But, even

>our geneticist commented that " She just may going to be petite. "

>Her father is of average height, and her mother is approx. 5'10 " .

>One thing I haven't heard any of you mention is a small head

>circumference. Blair's is quite small, although it looks quite

>proportionate for her. I think this may just be inherited,

>because her Dad has a relatively small head circ. Blair is

>very low on the growth grid for height, and well below the 0

>percentile for weight for her age(even adjusting for 4 weeks

>prematurity)

>Can some of you tell me who usually actually makes the diagnosis

>of RSS? Is it usually the endocrinologist or geneticist?

>One more unrelated question---Do most of you post your

>messages by going to the web site and selecting post, or

>do you use your e-mail program. I'm just wondering because I

>had a little problem with the way my original post shows up

>in the Digest for that day. Well, I've gone on for long enough

>I guess, so I'll go. Thanks for any and all input. You guys are

>great! Ann(grandmother of Blair,16 months old today and

>approx. 15 pounds 12 ounces,not diagnosed with RSS)

>

>

>---------------------------

[Guest guest]

Kathleen,

It all makes perfect sense to me. Thanks for sharing. Ann(grandmother of

Blair)