Re: goes to the Geneticist - Very long rant. Sorry

[Guest guest]

Hi Conny,

Sorry to hear about your experience with the Endo. I really hate it when we

go to a Dr, and they are condescending like that. The comments have a way of

frustrating you like nothing else ever would.

I would find a way to go and see Dr H. She can usually tell, just by

looking, if a child is RSS, or not. But even if isn't, she would be

able to give you some sound advice.

Pat (g-ma to , RSS, 24 months (TOMORROW!!!), 20# 5.2oz, 29 " ,

Prevacid, Zantac, Singulair, GT)

[Guest guest]

Sorry for such a bad experience at the Geneticist. Could you get a

second opinion? I would never go back to a DR that tells you what he

thought just by looking at . It sounds like he didn't even

listen to you, those who know your child the best. One thing I've

learned is to stand up for my child. I understand how frustrating it

is. It took me many DR visits where all I could do is cry trying to

tell them they weren't listening to me and my opinion, but know I

just tell them how it is and what I expect them to do for my child.

A few of her DR has commented on my new attitude. I'd get a 2nd

opinion!

Team Lapish

Jenyfer, Dan, Tully & Pippin (13monts in 7days RSS)

> 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

[Guest guest]

Dear Pat,

I know. That is the plan. We just don't have much in the way of

financial resources and the fact that this guy says he is not RSS

probably means that Medicaid would not pay for an office call to Dr.

H, so I suppose we have just got to find a way to get to convention.

Perhaps I can rally our extended family to send and I.

Thanks for caring.

Conny

> Hi Conny,

> Sorry to hear about your experience with the Endo. I really hate it

when we

> go to a Dr, and they are condescending like that. The comments have

a way of

> frustrating you like nothing else ever would.

>

> I would find a way to go and see Dr H. She can usually tell, just by

> looking, if a child is RSS, or not. But even if isn't, she

would be

> able to give you some sound advice.

>

> Pat (g-ma to , RSS, 24 months (TOMORROW!!!), 20# 5.2oz, 29 " ,

> Prevacid, Zantac, Singulair, GT)

[Guest guest]

Connie,

If the insurance will allow a second opinion, I would suggest you try

to see Dr. Kukalidge through Cook's children's in Fort Worth. That is

who we see, and we really like her! Although, all the Geneticist does

is make the diagnosis, all the actual treatment comes from the

Endochrinologist! (That's what Dr. H is!) although, she is much more

than JUST an Endo!

I hope this will help you! RSS or not, your little guy still deserves

to be treated for whatever is causing his lack of growth!!!

Hang in there!

Carmen, Mom to Storm, 8y 4m, 50 pounds and 47 inches

[Guest guest]

Hi Conny

I was reading about your visit to the doctor and thought I should share our

stats with you. I live in Toronto Canada and seemed a LONG way away from Dr.

H.!!

My son, Adam is 11 years old. Our story sounds similar to yours very much.

Adam was born at 38 weeks weighing 5 lbs 3 oz. He was called " small for

dates " and that was that. He slept and slept and slept. His sucking muscles

were too weak to breastfeed and ended up bottle fed, which he couldn't

master that well either (he'd suck for a bit and tire and fall back to

sleep). He was using preemie nipples for months (even though he was not

preemie). I had to wake him every 3 hours for feedings. Doctors said he'd

" grow " soon and everything would be fine.

No feeding tubes, no special formula.....nothing. At 2 years I was concerned

he wasn't speaking in sentences yet and bugged our GP for a referral. That's

when I first heard there was something " wrong " with my guy.

At 21 1/4 months of age he was 20 lbs and 2 oz. A good weight for RSS??

Considering what your doctor said about .

Long and short of it was doctors would mention RSS in passing but nothing

really started happening until he was 7 years old and our hospital got a new

endo. He started GHT at age of 8.

So here is one kid, who was seen by Dr. H. in 2001 and definitely said to

have RSS by her, who had no speech issues, no OT, no PT, met all

developmental milestones on the low end of normal, no feeding tubes, no

special formula, was OK size at birth......

Just thought I'd share that with you. From my experience? I would strongly

suggest you don't give up. You know there is something to be looked at here,

keep going, find another doctor. I always suspected something was wrong but

I allowed the doctors to explain everything away as " nothing " . We lost

valuable years of treatment as a result.

Good luck and is lucky to have you in his corner.

Debby

goes to the Geneticist - Very long rant.

Sorry

> 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

>

>

>

>

>

[Guest guest]

Dear Carmen,

I have been so excited to hear about your new life and new challenges

and of course to know that Storm is doing so well.

Thanks for the suggestion. does still have an upcoming

appointment with a Pediatric Endocrinologist, which we will go to. I

am hoping that that doctor will take a different attitude.

Unfortunately, it seems that at Dallas Children's hospital, the

geneticist is also the one who deals with nutritional supplementation

issues for all of the kids, which makes sense except in this case. I

am not sure that needs more calories than he is getting, but

I sure wish I thought the doctor had even asked himself that question

and helped us address it. When I expressed my concern to 's

gastro doctor about how thin he is, she said 'Thin is relative.

Certainly, he is not chubby, but I have lots of patients much thinner

than he is.' So, maybe I just need to reevaluate my scale of

thinness. Perhaps the endo will have more of an open mind or at

least be willing to learn more. I am not sure whether we can get a

second opinion or not. We are at the mercy of medicaid. I suspect

it may have to do with how his pediatrician feels about this

evaluation. Unfortunately, the doctor we are with now is kind of

meek and willing to 'wait and see' a bit more than we are comfortable

with. I think we need to find a new one, but I was afraid that if we

moved before we had our referals in place, we would have to go

through another period of 'wait and see' before a new doctor would

become concerned about his 'failure to thrive'. Thank you for the

referral and I will keep her in mind. We may end up there, who

knows? Thank you for being there and caring.

Conny

> Connie,

> If the insurance will allow a second opinion, I would suggest you

try

> to see Dr. Kukalidge through Cook's children's in Fort Worth. That

is

> who we see, and we really like her! Although, all the Geneticist

does

> is make the diagnosis, all the actual treatment comes from the

> Endochrinologist! (That's what Dr. H is!) although, she is much

more

> than JUST an Endo!

> I hope this will help you! RSS or not, your little guy still

deserves

> to be treated for whatever is causing his lack of growth!!!

> Hang in there!

> Carmen, Mom to Storm, 8y 4m, 50 pounds and 47 inches

[Guest guest]

Dear Deb,

Thank you for understanding! That is exactly my concern. I can see

that is doing well now. He is healthy, although he catches

every bug that comes within a mile of him, but I don't want to loose

valuable time. If he is getting enough calories, he is almost old

enough to begin considering whether he should have GH. He is not

being tested for bone age. He is being treated as though there are

no ancillary issues.

And I knew I had read of other kids on the listserve who were about

his size or even bigger who are indeed RSS.

I love and his sister so much and I am happy that they are in

my home and in my life. They are a bit of a challenge since their

Mom moved out. I didn't expect to be parenting again at this point

in my life, and some days, it makes me feel very old! Their Dad is a

good father to them, but he is a Dad, not a Mom and he works long

hours besides. It is just challenging and 's issues are just

one more challenge. It would also have been a bit more comfortable

for me if the kids were not so close in age. At just 12 months

apart, we have climbing and jumping on the furniture and

Kristel days away from taking her first steps. It is physically very

demanding for me.

On the other hand, I feel uniquely qualified to fight for .

My oldest daughter is an achondroplastic dwarf and so, in some ways,

this is a familiar road to me. There are certainly differences and

different issues and yet some of the landmarks are the same. I have

to learn the medical issues, but the social and developmental ones

are not so unknown to me. And, I have dealt with doctors who do not

listen and I have dealt with doctors who think they know it all

because they have read two articles on the subject and have treated

one person with a syndrome. I just need to garner my resources and

come up with a new plan.

It is just so aggravating that we waited for seven months to see this

doctor and he was so condescending. GRRR!

Again, thanks for caring.

Conny, 's (and Kristel's) great-aunt

> Hi Conny

>

> I was reading about your visit to the doctor and thought I should

share our

> stats with you. I live in Toronto Canada and seemed a LONG way away

from Dr.

> H.!!

> My son, Adam is 11 years old. Our story sounds similar to yours

very much.

>

> Adam was born at 38 weeks weighing 5 lbs 3 oz. He was called " small

for

> dates " and that was that. He slept and slept and slept. His sucking

muscles

> were too weak to breastfeed and ended up bottle fed, which he

couldn't

> master that well either (he'd suck for a bit and tire and fall back

to

> sleep). He was using preemie nipples for months (even though he was

not

> preemie). I had to wake him every 3 hours for feedings. Doctors

said he'd

> " grow " soon and everything would be fine.

>

> No feeding tubes, no special formula.....nothing. At 2 years I was

concerned

> he wasn't speaking in sentences yet and bugged our GP for a

referral. That's

> when I first heard there was something " wrong " with my guy.

>

> At 21 1/4 months of age he was 20 lbs and 2 oz. A good weight for

RSS??

> Considering what your doctor said about .

>

> Long and short of it was doctors would mention RSS in passing but

nothing

> really started happening until he was 7 years old and our hospital

got a new

> endo. He started GHT at age of 8.

>

> So here is one kid, who was seen by Dr. H. in 2001 and definitely

said to

> have RSS by her, who had no speech issues, no OT, no PT, met all

> developmental milestones on the low end of normal, no feeding

tubes, no

> special formula, was OK size at birth......

>

> Just thought I'd share that with you. From my experience? I would

strongly

> suggest you don't give up. You know there is something to be looked

at here,

> keep going, find another doctor. I always suspected something was

wrong but

> I allowed the doctors to explain everything away as " nothing " . We

lost

> valuable years of treatment as a result.

>

> Good luck and is lucky to have you in his corner.

>

> Debby

>

> goes to the Geneticist - Very long

rant.

> Sorry

>

>

> > 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

> >

> >

> >

> >

> >