Where to begin - manometry results and surgery

Oh where to begin.  I feel as though this blog has basically turned into medical updates for Ellie.  I apologize for that.  Please do not think there are no positives in our lives. There are!  How about I start with some of the fun, exciting things?

Ellie is trying to talk.  We don't always understand what she wants and if Drew doesn't get it he says "go ask mama".  If Ellie doesn't know the name of something, she says "ish" [this].  Usually she is pointing in the general direction and we have no idea just what "this" is.  The other day she said as clear as day "help please"!  She also has this flashcard with a clock on it.  Guess what she says?  Come on, guess?  Cock!  I shouldn't laugh, but well, it is funny.

Ellie is a big fan of bubble baths.  She constantly says, a clear as day,
"MORE BUBBLES"

Now that summer is underway, Ellie will be starting swim lessons.  We go to this amazing instructor. She teaches children who have special needs as well as their siblings in her backyard pool on a 1:1indiviaual basis.  Ellie made more progress in her first lesson last summer than in 6 weeks at group Y lessons.  She always wants to swim, but gets scared when the water goes above her waist.  I may have flashed a few people at a kids pool party when Bear clung to me like a spider monkey and pulled my suit down.  Whoops!  Not everyone wants to get a full show of my saggy boobs.

Horse therapy has been moved to earlier in the day to avoid the hottest time of the day.  Her beloved horse, Charlie, has been retired as he is considered "elderly" in equine terms.  She has been riding this sweet horse, Jake, and it has been going well. Jack has been taking a break this summer from therapy sessions which means Ellie is rather reluctant at first to get on the horse.

Here she is trying to make the horse go "fast fast fast"!

Playdates!  The nice thing about summer is the flexibility and free time.  We have been aiming for weekly playdates with Jack and his sister, Maggie.  You all know how much the Bear loves her "Hack".  This also means I get a much needed coffee gab session with their mama and my dear friend, Sheryl.

Onward to the medical stuff.  Bear with me her as I try to explain this in layman's terms.  Recall that 2 weeks ago was hospitalized for a series of tests.  One of which was a colon manometry, which looks at the motility (movement, peristalsis) of the colon.  Another was an upper GI which looks at the esophagus, stomach, and duodenum (upper portion of the small intestine).

Upper GI:
She continues to have esophageal gastritis, which is inflammation of the esophagus and stomach.  The biopsies revealed she is more inflamed that what was seen by the naked eye during the endoscopy.  She has been started on carafate (for ulcers) and will continue her protonix.  Here's the not so exciting part, the carafate's #1 side effect is. . . you guessed it! Constipation!  Yes, I am not kidding.  Consti-freaking-pation.  Because, you know, she needs more of that.

The biopsies again ruled out: celiac disease, lactose intolerance, and H. pylori.

Colon Manometry:
Basically test this looks at the colon contractions without food in the gut, after eating, and after stimulant laxative administration.  You can tell if it is nerve related or smooth muscle related.  Ellie's  manometry showed that she has low-amplitude decreased contractions.  Essentially, the smooth muscle of the colon wall doesn't not contract enough.  This means that her colon has trouble pushing stool forward and as such allows more water to be reabsorbed into the gut thus causing the stool to become harder.  Eventually, with chronic constipation, the colon stretches out which makes it even more difficult to push out stool.  Essentially, chronic constipation worsens constipation.

We learned that Ellie's colon has absolutely no response to the stimulant laxatives.  This is explains why all the medications she is on do not really help.  Before getting the official results of the manometry, we were to do a trial of high dose SennaLax (she was on a 1/2 dose before) to see if it would work.  It did not.  She was in so much pain on Tuesday and Wednesday due to being unable to go.  Crying, moaning, and clutching her stomach along with having a fever.  Perhaps a bit of colitis secondary to constipation?  It was the worst I had seen her in a long time and I was ready to take her to the ER when I couldn't get the enema fluid in at first.  I finally got the enema in and it helped, but we cannot keep violating her like that.

Anyway, when the doctor called with the results, we were referred directly to pediatric surgery.  Three surgical options were discussed, but both GI docs and Drew and I went with the one that would be most appropriate for our family.  (As in an ileostomy would not work because Drew wouldn't change it and Ellie would remove the bag getting liquid poop everywhere.  I'd be performing 24 hour surveillance.)

We are going with the Malone Procedure or ACE which stands for antegrade colonic enema. Antegrade means "above".  Enemas traditionally go through the rectum and only clear out the lower portion of the colon and do not affect higher up.  This doesn't truly treat the constipation.  By shooting an enema at the beginning of the colon, the colon can remain flushed and clear.  Plus, Ellie could come off all her laxatives and perhaps her urinary retention would be resolved. To do this, the appendix is brought to the surface of the abdomen and a button is placed (called an appendicostomy).  A saline enema is administered through the button It is scary, but we have learned that all the laxatives in the world, dietary measures, natural remedies, and behavior management are not alleviating the constipation.

Photo: www.nationwidechildrens.org

At this point, we have been referred to a different urologist to the one that we already see.  He is the one who will perform the surgery.  His medical assistant has been out all week and they are not sure if they can work her in.  Their first available appointment is in nearly 2 months.  Then who knows how long before surgery is booked.  I was really hoping to have this done before school starts, but it isn't looking that way.

A week ago, I had my surgery and it went well. The recovery period was only 3 days which I am relieved because I was told to allow up to 2 weeks.

So that's the big scoop.  Life is never dull in the Theurer household.



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Hospitalization and Procedure Update

Last week Ellie had her 3 day hospital stay.  It took a while to get to that point.  There was a lot of organization on behalf of 2 GI specialists, Infectious Disease, and Pulmonary.   Cigna denied coverage for the bowel prep and colon manometry stating that it was "experimental" and that even if it was covered, they would not consider an overnight stay.  Right. . . the bowel prep was needed to clear the colon for the colonoscopy and then the manometry gets performed the following day to allow the bowel "wake up" from the anesthesia.  There were appeals on my end and the doctor's end and panic. Fortunately, we have a Medicaid Waiver for children with disabilities program called MDCP.  Not many of our kids with Ds qualify anymore, but Ellie does and surprisingly, Medicaid approved her procedures.  So clearly not experimental.  The thing is, even if it wasn't covered, we would have found a way to make it work.  She needed those tests.

Disclosure: I know that there are a lot of new parents of children with Down syndrome who read this blog.  I do not want you to think that what is going on with my daughter is the future for your child.  Ellie's issues are unique to Ellie.  They are not related to Down syndrome.

I made sure to pack all the important things for a hospital stay!

Ellie did totally awesome during her stay.  As in she was well behaved aside from trying to yank out her NG tube and she stayed in bed for the entire manometry study (6 hours!).  She did great with anesthesia and she SLEPT!  Now I think the first night was because she was up late, had versed, and then was up a lot in the middle of the night.  The next night might have been due to post-anesthesia, and fentanyl.  At home, she is still continuing to wake all of us at 3am.  (It was 2:30am before the hospitalization). She is, of course, up for the entire day.  Yes, awake from 3am - 7pm.  That is another post entirely

Top right: you can see how distended her tummy is from all the GoLytely

So. . . we still don't really have answers.

Bowel Prep:
This was to prepare her for the colonscopy the next day.  An entire gallon of GoLytely was run through and NG tube and was, in theory, supposed to clear all the crap out of her intestines.  I say "in theory", because it took way longer than anticipated.  So long that she wasn't fully cleared out in time for her surgery!  Dr. S called it "good enough" and opted not to post-pone the procedures.

Brain MRI with Contrast: Normal!
This was performed because Ellie had a new finding of central sleep apnea on her repeat sleep study from March.

Blood Work:
10 vials, my friends.  Then it still wasn't enough so another vial was drawn.  We looked at Thyroid levels, Ha1c, CBC, metabolic panel, inflammatory markers, celiac, and IgG/IgM/IgA gammaglobulins, etc.
Of the blood work that is back, all is normal except for a mildly elevated thyroid stimulating hormone [TSH].  After a brief in-hospital endocrine consult, it was recommended that we repeat her TSH and free T4 in 2 weeks at the pediatrician's office.  I just love adding more doctor's appointments to our schedule. Hypothyroidism is very common in Ds and it is often said a "not if, but when" they get hypothyroid so I am not overly concerned.

She wasn't able to eat during the bowel prep until after her surgeries so 32 hours without food.
The donut was awesome!

Upper Endoscopy aka EGD:
Back at the end of January, we did an upper endoscopy to definitively rule out celiac and lactose intolerance.  All came back normal, but her esophagus, stomach, and duodenum (upper part of small intestine) were inflamed.  We stared her on Protonix which is a proton pump inhibitor for ulcers and reflux.  Last week, we did a repeat EGD to see if the Protonix worked.  I am happy to report that the esophagus and duodenum look good and her gastritis is now mild.  The doctor also took 8 EIGHT biopsies of the duodenum as opposed to the usual 2 to double check the celiac screen.

Someone was pretty excited when she found out the bed could move.

Colonoscopy: Normal!  No need for any biopsies either

Colon Manometry:
This was the big test to determine how Ellie's colon functions - think contractions or peristalsis.  Is she missing nerve ganglion in the colon, delayed transit, etc.?  So. . . it was mostly normal.  No absence of nerve cells or other motility stuff.  She could not eat anything for over 8 hours before the test.  She showed normal colon contractions at the beginning.  Two hours in, we gave her food.  Her colon showed an appropriate response.  An hour later, they gave her laxatives.  Her colon did not respond, at all.  Not a real shocker.  There is no explanation for her severe constipation.

Colon Manometry or Colon Motility Study set-up

So now what?
It will be another week or so before we get the biopsy results.  It will be another week before we get the full Manometry results.  In 2 weeks, we repeat the thyroid panel.  We are doing high dose stimulant laxatives (as opposed to her osmotic ones) for 2 weeks on and 2 weeks off.  You cannot do stimulant laxatives every day because the gut gets dependent on them.  We follow up in 1 month.  If not a big improvement, we have to make some big decisions.

Severe constipation is a huge deal.  It has lead to Ellie's weight loss.  There is an increased risk for gut infection, intestinal perforation which can lead to sepsis.  It is causing Ellie's chronic urinary retention, which puts her at high risk for UTIs and even kidney damage.  This is Ellie's life.  It is getting worse, not better.  We have tried everything natural, medical, and everything in between. I was really hoping for more answers so that we would have a "fix" a good treatment plan.







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