again/SDS diagnosis, etc

[Guest guest]

had 3 endoscopies and ph one or two.... Be sure that they not only

do a biopsy for Celiac, but ask them to do a polysaccarhidease test to see if

the brush cells are secreting the proper enzymes and all. This will save you

some grief later if there are any questions about what it is he has. I was

lucky enough to KNOW when we went for ph's scope to ask for it-- it is

rather

rare (but the GI did it anyway). Also, have they ruled out Renal Tubular

aAcidosis? That was the first thing they looked at for , then it was CF,

then Celiac and then SDS. Have they done blood counts? How are his

neutrophils?

(neutropenia is the most common hematological abnormality in SDS) Usually

to diganose SDS they do two blood tests-- one is called a serum isoamylase

(but to be accurate they wait until the child is over 3) and they also do a

serum

trypsinogen....And a 72 hr fecal fat to measure the amount of fat

malabsorption (pancreatic insufficiency) ... if the serum values are low and the

child

has bone marrow dysfunction, chances are they will diagnose with SDS. If the

fecal fat is abnormal and they have signs of bone marrow dysfuntion

(neutropenia, leukopenia, anemia, problems with platelets, etc) chances are

they will

dignose with SDS. Of course they have found the gene for SDS, BUT they have

only

isolated a few mutations-- there is a company that you can order the test

from here in the US-- it is listed on the SDA web site(see my sig line) --

there are some kids with SDS that have not had any of the common mutations and

they have had to have a transplant b/c of SDS! SOoooooo...it is very hard to

diagnose. They can do a pancreatic stimulation test to test pancreatic

function, but the trouble is that in order for the assay to be accurate the

patient

has to have lost over 98% of pancreatic function...i.e. someone with only 2% of

their pancreas functioning can still have a normal Pan stim test. ph

having an abnormal isoamylase clinched the diagnosis for us. <A

HREF= " http://www.shwachmandiamondamerica.org/phpbb/viewtopic.php?t=10 & sid=2125fb\

def205421a3a597dc1d97fd12c " >Hello/ Our SDS

Story</A> here is a link to our SDS story.... I assume that your son's fecal

fat

was already abnormal since they are going ahead with the celiac test and they

had already done the CF sweat test? Do they have him on enzymes?

They put on Periactin for a while to increase his appetite..... is this

what they started him on? never had problems with appetite-- we had a

psycho GI who thought we were lying about how much he ate -- a long story.

There is a product called scandishake-- it has 600 calories per 8 oz serving.

It also contains MCT oils which are the most easily digested fats there are

(medium chain triglycerides) -- you can get your pharmacist to order it or you

can order it on-line at <A

HREF= " http://store.axcanscandipharm.com/products/scandishake.html " >Axcan

Scandipharm Inc.</A> it is made for people with

CF and SDS...of course many otehrs needing to gain weight use it.

Also....check out the link to the weight gaining recipes in my sig line at the

community

message board on the SDA website. There are ideas people have put down how to

help their children gain weight-- most are SDS parents.

I am sending this to the list and to you so that the links come through in a

*clickable* way.....

~Pattie~

Mom to age 9 (healthy), age 7 (Shwachman-Diamond Syndrome), and

ph age 6 (Shwachman-Diamond Syndrome)

for more information on Shwachman-Diamond Syndrome:

<A HREF= " http://www.shwachmandiamondamerica.org/ " >Shwachman-Diamond America</A>

Have a child that needs to gain weight?:

<A

HREF= " http://www.shwachmandiamondamerica.org/phpbb/viewforum.php?f=8 & sid=874b6f0\

76bb965f3d7b42f85d0f3a39f " >Weight Gaining recipes</A>

to read the latest article on chronic neutropenia:

<A

HREF= " http://www.shwachmandiamondamerica.org/phpbb/viewtopic.php?t=248 & sid=5c36b\

e6039c76ea5984b078122aa0aa1 " > Molecular basis & therapy of disorders associated

with chronic neutropenia</A>

> No, I did not know there was such a thing-- he goes back to the infectious

> disease doc for more blood tests on wed, aug 20th- was re-given his Prevnar

> vaccine to see if it takes(didn't before)and to further along the CVID

> diagnosis, I will ask for that blood work to be done also.

> Just went to pedi gastro on Monday and undergoing flex sigmoid and

> endoscopy on aug 28th to look for lesions-?celiac and Swachman diamond, etc,

> then upper and lower gi series to look for structural problems and the cause

> of his GERD. Then I was told he probably has Metabolic disorder, that can

> only begin to be tested when he catches another viral stomach virus and gets

> dehydrated- so they can compare metabolism when he is flacid and flat on his

> back with IV to when he is bouncing off the walls like a hyperactive

> chicken!

>

> Also waiting the nutritionist to phone today to do a dietary calorie

> challenge and to be placed on prescription liquid, high calorie supplements.

> He was just placed on an appetite stimulant at bedtime- that makes him walk

> like a drunken sailor in the 1 or so before bed! After all, this 20 month

> old child has been 30 inches high and weighed 18 lbs 6 ounces for 5 months

> or so!

>

> This is beginning to get overwhelming! His med list is getting to the

> point that the one page typed list, will soon become two pages--

>

> Just looking for SOME answers!

>

> How is the Swachman Diamond syndrome diagnosed?? Anyone??

>

> Mom to 20 month - GERD, CVID, Asthma, Allergies, ?celiac/Schawman

> Diamond,Failure to Thrive, Ezcema, Chronic Thrush, Chronic Sinus and Ear

> infections--Also being accessed for multiple Gastro problems