A different Geneticist. (long)

[Guest guest]

I thought I posted this already, but i do not see it. It it is

repeated let me know.

today we went to the geneticist Bradley saw in the NICU when he was

11 days old. I did not mention that bradley was actually diagnosed

with RSS. I did however mention that he had seen another geneticist.

She examined him, took pictures, took them to compare to her other 5

RSS patients pictures (we did not see the other pics due to privacy

issues). She is in close contact with dr H in her practice, due to

her number of RSS patients. She suggested we try to get an

appointment with dr h next spring if we can. She did confirm the

diagnosis of RSS, and although he is on the regular growth charts

for weight and head, he is still under the height...26 inches at 8

months. He is in the 30% on height for weight, she said that was

too heavy as well. she said she will foward bradley's file to dr H

for another opinion, but she is 98% sure his diagnosis is correct.

so after 2 different doctors diagnosing this .......... I guess i

was hoping for a wrong diagnosis. I think i was expecting a miracle,

but becasue bradley is so darn big i think maybe he had a wrong

diagnosis. I mean he is not a little baby he is 16 p 7 o at 8

months, my friends baby was born a week later than mine weighed 11 p

13 o at birth and is tipping the scales at like i think she said 18

or so pounds. so mine is almost there. anyways...sorry i started

rambling, i love you all.

Paige

[Guest guest]

You are so lucky to have a geneticist that is so proactive and so

concerned for your son's health and wellbeing. It's also great that

she is in contact with Dr. H. and has a relationship with her.

I also understand that it is disconcerting to have your child have

something " wrong " with him. We all want our kids to be " normal " or

whatever that is these days, and having that label and worrying

about what lies around the corner is just something we don't want to

face. BUT for most, RSS is a condition that needs to be dealt with,

but is not nearly as bad as other things that your son could have

had. (All this from a mom whose son has had many, MANY

complications from RSS!! I remain optimistic.)

Just give your baby a huge hug and love him and enjoy him. You will

probably have to face some issues as he gets older, but at least you

have us to help you through. It's much easier now than when Max was

diagnosed 15 years ago and we had no one.

Keep us posted and keep up your spirits. We are all in this

together!

Jodi

[Guest guest]

Hiya Paige,

I'm le. Your story sounds a lot like my own. I have 4

children and my babies are twins. Coby is 1 of my twins and he has

RSS. His gene told us at just a couple days old that he believed

that Coby had RSS but he wouldn't say 100% because there was not a

100% test. Well as the months went on he was more and more convinced

that it was RSS. Finally in June he said he would make a deffinent

diagnosis of RSS. In July we took Coby and his twin sister Carlee to

the MAGIC Convention and wow I was in shock. Everyone that I saw and

that saw Coby just couldn't believe that there was any way that Dr. H

would say that Coby had RSS. Coby has always had a huge appetite.

In July he was 9 months old and 13 lbs and 26 in long. Oh and he

only weighed 2 lbs at birth so 13 lbs was HUGE. He had only had 1

episode of low blood sugar and he just didn't seem to look rss.

I was so hopeful that I was going to find out that after all the

months of thinking he would not live while I was pregnant and then

his whole life dealing with the thoughts that he was going to be

special I really thought we were going to hear that he was " normal "

and that he was just little due to being a twin. Although I was just

as scared to find out that it wasn't rss and then going back to not

knowing what was wrong. I think I can deal with anything as long as

I know what it is that I'm dealing with.

Dr. H confirmed the diagnosis. Coby has very slight traits of RSS

but he has them all. Coby and Carlee just had their 1st b-day and it

has been an emotional roller coaster. But what an exciting ride it

turned out to be. I believe that we must go through all our

emotions, the good and bad, to adjust to our new lives. As hard as

it seems one day it will be that wonderful the next so we just hold

on for the next day.

Hope this lets you know you're not alone. We all understand. Please

stay in touch and take care.

le, mom to:

ShyeLynn 8, Brock 6, and Coby (rss) & Carlee 1