goes to the Geneticist - Very long rant. Sorry

[Guest guest]

Well, today was one of the most frustrating days of my life! GRR!

We finally got in to see the Geneticist after waiting since May. A

resident came in our room and took a VERY thorough history. So far,

so good. Then she went to talk to the doctor. He came in and asked

what he could do for us, like he was a waiter at Mcs. I told

him that we were hoping that he could diagnose and help us

know if he had RSS. We were also concerned about his nutritional

status and making sure that he is getting enough calories to sustain

his growth and brain development.

Anyway, he said that is not RSS. He said that at birth

was 5'6 " and that RSS children are like 2-3 lbs. He said

that is too big now. At 21 months, he is 21.5 lbs and 31.5

inches. (I realize that he is bigger than a lot of the severly

affected kids and that if he has RSS, he has it to a lesser degree,

but I also know that some of the other RSS kids are the size he is.)

He said that does not have enough symptoms of RSS. He said

that 's head is not 'lightbulb' shaped and therefore he is not

RSS. (By the way, the person who started us on the journey that led

to RSS was his Gastroenterologist, who asked us why 's lower

face was so small, why his chin was so 'elfish'. She is also the one

who said she thought he might be some sort of a dwarf.)

The Doctor also said that he thinks that is just a picky

eater. (Oh, that explains why his mom had to set an alarm clock to

wake him and feed him when he was a newborn. He is just a picky

eater.) He said that he thinks maybe we pay too much attention to

's eating and fuss over him too much when he doesn't eat. (He

did not base this on anything he saw or heard from us. He just

thinks it!) He said that is doing well because he can walk

and climb and hasn't been in the hospital a lot and because his

speech is developing so well. He told us to keep doing what we are

doing, although he wasn't sure I should keep putting cornstarch in

the night bottle because it might make the milk digest too slowly. I

told him that I couldn't see how that could be a problem when he will

go to sleep for 11 hours. Surely, it will digest in that amount of

time. He said that will eat when he gets hungry and that who

knows? Maybe one day, he will just grow. Oh, and by the way, he

said, no child ever starves themselves to death. WHAT A JERK!

is not the smallest child in the world. I am fully aware of

that. I know that some of your kids are much smaller but he is on

about the 6th or 7th percentile for height and considerably below the

chart for weight. How can this not be a problem? Even if his height

and weight were proportional, I could maybe think that things are as

he says and is just small. Also, if his head circumfrence

were not at about the 45th percentile. Hello! Something here is

different! Also, the doctor did not have some other rational

explanation. He just said that he did not want to put a diagnoses on

of RSS because then people might stop looking for 'other

problems' and just blame everything on RSS. Help! This doctor is

just not getting it.

We have just got to get to see Dr. Harbison. If does not

have RSS, fine. I just need someone to speak rationally to us.

I am sorry to go on and on about this, but what a rotten day. We

were just shell-shocked by this doctor's attitude.

The other bad news to me is that has been on Periactin since

July and he has not moved up the weight chart at all. He has gained

a little and grown a little, but he is still on the exact same growth

curve. So, he is not doing any 'catch-up' growth at all.

Thanks for listening to me. It is good to have people around who can

understand.

Conny, Great-aunt to , RSS or maybe not! 21 months, 21.5 lbs,

and 31.5 inches. Perictin