-maltase--enzymes RE: Re: re enzymes

[Guest guest]

Hi Pattie!!

You asked if they have done biopsie on Blake?

YES they have.

Brush Cells...yes this was mentioned & researched. We even had a

dietician tell us tha tthe " brush cells needed to be awakened in

order for the digestion of Sucrase Isomaltade Enzymes to

work.....HELLO!!!!! I probably can not begin to count the biopsies

done on this boy.

They did the first biopsy when he was 4. this is when he was DX'e

dwith the Sucrase-Isomlatase Deficiency.

We were referred to Dr. Treem at DUKE. he was the Top Pediatric GI

they had at the time. he agreed just by " looking " at teh test

results. Then he asked for the actual " frozen tissue to be sent to

him. It took him 3 weeks from the time he got them til he finally

answered questions for the Dr.s in SC. he afgreed that Blake DID

indeed have the Congential Sucrase-Isomaltase Deffect.

Now mind you he was looking at " frozen " tissue. But i still had my

doubts as did Dad. We had researched what they were telling us & did

not see this with Blake. Evidently neither did the Pulmonary Dr. She

kept referring to Dr. Durie's testing & had more belief in those &

that DX than anyone else.

When Blake was 6. More Immune Studies were done on Blake as was

testing for Celiac Disease as well as Chron's. Blake DID fit all of

the crieteria for these. Finally when the Pulmonary Dr. was told by

the " Immuno " we had in Col. that no one should be using blake's

immune system as an illness, did everyone start saying, " Hey, Maybe

he DOES need to go to DUKE if for nothing more thatn toget in the

Immunology Dept. The Pulmonary Dr. Blaek has, had a Fellowship at

DUKE for 5 yrs. so, it was the best thing we could do. She got in

touch with Dr. treem, told him all taht was happening & did hge

think Blake really had the CSID(intestinal enyme def). Worht a

look!! She also told him of the Immune issues that were presented &

would he get Blake in with Buckley/Myers.

So in November of 1998, Blake was admitted to DUKE under the GI

dept. he underwent 3 different days of Biopsies. One was definitley

to look to see if Blake genuinely had CSID. He also was doing

studies for Dr. Durie again to see if the Swhachman-Diamond-Bodian

Syndrome or Swhachman-diamond Syndrome was a major factor with Blake.

When the bllods work was done for the Immune System. Dr. laurie

Myers came & told us that Blake DEFINITELY had CVID & his T-Cells

were not functional at that point. Meaning.....Blake could very

well die if not treated correctly. She also told us that the Immuno

we were using in SC was not even a true Immunologist as of that

time. She had not completed what ever was needed to qualiify for

Immunology yet. She was however a bonifide " Allergist " who was

making good money from Blake by giving him the " allery " shots..he

was allergic to everything under the sumn so he was receiving shots

3 times a week!!!

Well needless to say, we Fired that Dr. Blake's Pulmonologist took

it upon herself to get Blake a good qualified Immuno.

Back to Duke.

Dr. Treem did tell us that Blake had less than 5 in Total. Dr. Myers

confirmed it. While there Blake happened to get a " nasty " bacterial

infection. it was in his blood & in his lung tissue(this was

biopsied after the bacterial was named). it was a " hospital germ " It

took 4 days of high fevers & the bed going across the room...(by the

way if you have ever had your child inpatient at DUKE, you know it

does not take much to say " across the room " it was a wonder that

anyone can even turn around in the rooms!!!)for the tests to say it

was Gram Negative & 2 more days to say it was M. Serratia. this is a

germ that once in the lungs can cause great damage!!! Blake went

from only being in for testing to last 3-5 days to 3 weeks & he was

fighting for his life during this time!!!!

The Biopsy for the enzyme Deficiency came back telling them that

Blaek DID NOT have CSID!!! He did have the Maltase Deficiency & was

confirmed for Disacchridease Deficiency.

So, when we left DUKE 2 days before Christmas in 1998 this is what

went home with Blake:

Disacchridease Deficiency

CVID with Complete T-Cell Dysfunction

IV Gentamycin, IV Rocephin & IV Tobramycin

M. Serratia with Lung Tissue Damage

Maltase Deficiency

Severe Asthma

GERD

Failure to Thrive

feeding pump & a new formula for the Enzyme Def.

New meds. to treat teh Enzyme issues

Hope that all of this was going to be put behind us & a definiative

DX would just be wrapped in a nut shell!!!!

Needless to say do you know what the last thing on our mind was....

what is Blake gonna get for Christmas??

It was too late for us to worry about this & Blake was in no mood to

celebrate!!! Any way Time has made up for thhis oversight

As for the SDS DX. we were able to speak to Dr. Durie over the phone

(don't ask how much the phone bill was because it was out of our

pocket range!!! in 1998) He told us that he DID believe Blake to

have Swhachman-Diamond-Bodian Syndrome. This is a little more

complicated that the regular SDS. He said to would be the only other

reason for the trypsin & trypsinogen to be deleated, or for Blake to

have such a complicated enzyme problem other than Cystic fibrosis &

Blaek by blood, biopsies & other testing did NOT have CF!! But he

also recommended for more studies with the bones & blood work. Blake

had some bone studies done with DUKE but we were told that the bone

issues were th least of our problems.

When Blake was inpatient in SC back in 2001, the issue of SDBS, SDS

came up again.

then again in 2003 it arose when the Osteoporosis was Dx'ed. But the

Endo. ddi not pursue the issue.

So, here we are again with the SDBS, SDS issue & now have the

confirmation that was being sought for so many yrs. What was

interesting about this Endo, he was more willing to contact Dr.

Durie & talk with him about Blake & they together cmae up with the

plan to treat Blake for the Osteo. he says we are already doing what

we can for everything else. I am glad that Dr. Durie was the one the

Endo. went to for some answers.

I just found it totally amazing that the Endocrinologist was sharp

enough to catch Swhach man Diamond with out us even telling him that

we had been researching this issues for the past 6-7 yrs.!!

Gotta run. bed time has come & gone & blaek is still awake &

Hungry....AGAIN!!!!

Julei

Mom to Blake 14, CVID with Complete T-Cell Dysfunction..IVIG evrey 2

weeks, Osteoporosis, Protien C & S Deficiency, Factor V Lieden with

Genetic Prothrombin Deffect(Blood Clotting disorders) Asperger's

Syndrome, Sensory Intergrated Motor Skills Delays, Asthma GERD

Loves Reading.....college level, Hates math & Thinks he Rukles the

roost!!!!)

http://www3.caringbridge.org/sc/blakester

Come & Experience the Greatest Adventure of MY Life Time!!!!

~~ Mom's Motto ~~ Don't argeu with a teenager!!!! They drag you down

to their level, then beat you with Immaturity!!!!~~

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

> PS-I wanted to mention that the exocrine pancreas (acinar cells)

only

> excretes pancreatic amylase (different than salivary amylase)

trypsin,

> chymotrypsin, carboxypeptidase, pancreatic lipase and nucleases.

Gastric

> juice has the enzyme pepsin and the saliva has salivary amylase.

So

> really, it has to be his brush cells that have the deficiency in

maltase b/c

> they are the only place it comes from. Is this what Blake has?

Just

> being curious and wondering if they have ever mentioned brush

cells to you

> before. ~Pattie Curran~

> Piedmont Triad, NC

>> That deficiency is likely coming from the brush cells. Did they

do a

> biopsy to test to see if the brush cells in the intestines are

excreting the

> proper enzymes? The brush border cells excrete maltase,

dextrinase,

> sucrase, lactase, aminopeptidase, dipeptidase, nucleosidases and

> phosphatases. The do a biopsy and a test called a disaccharidease

test to

> test for brush cell function. This can happen alone or in

conjunction with

> pancreatic insufficiency.. A few disorders include it. Both of my

boys have

> normal brush cell function as per their biopsy. Our first GI went

ahead and

> did the biopsy when the pancreatic stimulation testing was done to

be sure

> there were no questions unanswered. When ph was later

diagnosed and

> tested, I requested this test be done, even though the GI and I

both knew it

> was likely not a problem. I just figured while you are in there

doing

> biopsies, do this one extra and leave no stone unturned!

>

> Maltase breaks down maltose into glucose. Pancreatic amylase

breaks

> starches down into maltose and oligosaccharides, then the brush

border cells

> excrete the maltase (along with other enzymes mentioned above) and

break

> that into glucose that is more readily absorbed. I assume that

it may just

> be an isolated brush cell enzyme deficiency-there are a few

medical articles

> out there on these isolated enzyme (pancreatic and brush cell)

enzyme

> deficiencies. I'm not doctor-this is just what I know about

digestion..

> I'm sure you already know all of this yourself!

>

>

>

>

> _____

>

>

>

>