Blogging about life in Minnesota, raising our six kids with Down syndrome while battling Breast Cancer.

Be the kind of woman that when your feet hit the floor in the morning the devil says, "Oh shit! She's up!"

Thursday, June 25, 2009

You never want to hear....

You never want to hear a doctor at Mayo say, "I have only 6 other pediatric patients with this disease, and I've NEVER seen it in a child who has Down syndrome."

Let me go back the the beginning. A couple months ago we tried to put a Palate expander in Angela's mouth. Unfortunately her oral motor skills are such a mess that it was a DISASTER! It ended up that she was on a 100% liquid diet for that week, and was miserable. Finally we took it out and decided to really push oral motor therapy over the next year, then try in again. In the meantime we did start her with her braces.

Her speech therapist wanted to try Vital Nerve Stimulation, which is putting tiny electrodes on the muscles of the face to stimulate them, and kind or re-teach them to respond. I decided to give it a try, but in the meantime also decided I wanted her esophagus checked out at Mayo. Her regular GI doctor had suggested doing this 3 years ago, because he was stumped. But Angela was "ok", so I decided not to persue it any further. Now that the ST wanted to try something new I figured it would be a good time "just get her checked out."

I should have known better!

June 25th, meeting with Mayo Ped. GI specialist:

Achalasia in adults is about 1/100,000, but is extremely rare in the pediatric population. Angela has "Cricopharyngeal Achalasia", which is the most rare form of Achalasia. It has only been seen in a handful of children. The pediatric GI specialist we saw today said she only has a few pediatric patients with  regular Achalasia, that is Achalasia of the LES, and all but one of the patients she's seen with it have had a nissen fundoplycation done. NONE of them had Cricoparyngeal Achalasia. It is a "luck of the draw" kind of thing. A very rare potential outcome of a nissen. Nobody knows for sure, as there is no way to tell, but her theory is that at the time the nissen is done, the vegus nerve (the one that controls the major organs, including ganglion cells in the esophagus, and also the colon) is caught up in the wrap and subsequently damaged. This could also be why Angela is not only constipated, but doesn't know when her bladder is full either.

Over the next couple of weeks we'll be doing lots of different tests to see just where Angela's esophagus is at. Achalasia is a disease process...that means it gets worse, not better.

There are a couple of options:

1) Undo the nissen, and do a partial wrap, and cut the LES. (the sphincter muscle at the base of the esophagus. The only thing we don't know is if, when we undo the nissen, will she start refluxing like crazy again. Her nissen is 12 years old. While we did see what our regular GI thought was reflux on her last scans, this GI believes it was actually residual barium that couldn't get through the nissen. This does make more sense.

2) go in endoscopically 1-3 times per year and give the UES a shot of botox to relax it, allowing her esophagus to open easier.

That's all I know for today.

Update Friday 6/26:

Today was not a good day, as I really didn't expect to see what I saw. Angela's esophagus is in far worse condition than I imagined.

So today Angela had an upper GI with small bowel follow through. This is a barium swallow test. So, Angela starts out drinking the barium. The barium moves down her esophagus. In a normal barium swallow, you'll see boluses of liquid shoot through the esophagus. In Achalasia, you see the esphagus fill up with barium instead. In Angela's study, initially the barium went through ok. You could see where the nissen was, but it was basically ok.

Then we added ONE BITE of a barium laced cookie. Angela doesn't usually chew very well, but this time she was watching herself on xray so she chewed really well. LOL She swallowed it, it entered her esophagus, then about an inch down (about the level of your adams apple) it SAT THERE. It didn't BUDGE. This was CHEWED food, what happens when she DOESN'T chew well? She had another bite of cookie to see if it would all move down with more weight. NOPE! Now she has TWO bites of cookie there.

Ok, so we had her drink more of the barium to wash the cookie down, only it NEVER MOVED! Instead the liquid just went around it. THEN, the barium stopped moving through her esophagus, and it just started filling up, and up, and up, until we stopped because the risk of aspiration was too high. Finally the liquid moved through, but the cookie was still up at the top of her esophagus. SITTING RIGHT IN FRONT OF HER AIRWAY!

The doctor ordered the test stopped at that point. So we went to the waiting room for 20 minutes, then back to make sure the cookie had cleared. UM NO! It was still in the exact same spot! We waited another 10 minutes and it was STILL there! OMG! All this time Angela's only reaction was a tiny bit of throat clearing, and she patted her chest once like she does when she tells me she has something stuck. The radiologist was shocked she wasn't in pain. I said, "Ummm...she's been like this for YEARS, this is NORMAL for her!" Angela doesn't show pain. If she was any other person, this would have been dealt with years ago because it would be unbearable. For her, she doesn't know any different. How sad is that? Solid food is NOT moving through. I'm guessing once her esophagus is full of food, eventually the bite she eats now is pushing the one she ate 5 minutes ago into her stomach. This is a recipe for disaster, and the radiologist couldn't believe she hasn't had aspiration pneumonia time and time again.

The ramifications of this are HUGE! Next week we're meeting with two different neurologists (neurosurgeons? I forget.) and have more tests done, then finally meet with the GI doctor to go over everything again. I'm SCARED TO DEATH of what the GI doctor is going to tell me. I pretty much know, since the other surgery isn't an option for her. Either she's no longer going to be able to eat solid food (so liquid or soft food diet), or she's going to have to go back to a gtube.

The thought of the gtube doesn't bother me. (might bother Dean. LOL he's never seen one before. ) Angela had one for 3 years, and it wasn't a big deal. What IS a problem is the way her skin breaks down from it. And, lets not forget the fact that Angela ENJOYS eating. If you've ever been with her when she eats, you know she savors every bite. I can't imagine telling her she can't eat solid food anymore.

This is horrible. Yes, it could aways be worse. She could have developed Barret's esophagus, or a miriad of other things. She is ALIVE, active, and one of those "you'd never know by looking at her" what kind of secrets her body holds. So yes, it could be worse.

But right now, to me, it seems pretty bad. Angela has no idea what the next couple of weeks hold. A few more barium studies, and some meetings with doctors. She has no idea that when she sits next to me in an exam room watching a movie on the computer while I have a boring conversation with yet another doctor, that we're discussing her future, and the fact one of her favorite no longer an option.

So next we went down to the hospital cafeteria for lunch. As I watched her eat her turkey sandwich, I cringed as she swallowed. The thought of that ONE BITE of chewed up cookie stuck in now she's eating an entire sandwich.....can you IMAGINE what bread does in there? UGH! No wonder she doesn't like to eat bread all that much. So I thought about the other things she doesn't like to eat (there aren't very many) and all of them are things that would have A LOT of trouble moving through. Cereal, bread, lettuce (she loves veggies, but I bet lettuce sticks to the side of her esophagus like paper would!) and things like that.

Never again will I demand she eats her crust.


Courtney said...

Gosh, Leah, I am so sorry that you guys are going through this. {hugs}

e said...

Lordy! I saw your twitter and have spent the last hour or so trying to find your cell phone!!


text me...we're praying

poor baby...all this time!!

Courtney said...

My grandmother just got dianosed with this and had a nissen done. It was VERY scary for her when she started not to be able to swallow. I can't imagine becoming "immune" to that choking painful feeling...poor thing!

Molly C said...

oh man. oy. I really hope you have a better time talking to the neuro guys... Angela is a tough cookie!

Kathie Brinkman said...

Crap! Didn't you just tell me a month or so ago that you told Dean "Things have been going pretty good here for a while; I wonder what's coming?" I'm surprised Angela hasn't shrunk down to skin and bones if she can't get food down.

datri said...

oh my goodness. I'm speechless. I can't believe you guys have to go through this now as well. Big hugs.

Kristen said...

O.M.G. All of that stuff is very scary. Ethan has incredibly poor esophagus function as well. And, we were just denied for the program at CHOP...again. It's all very frustrating.


Beverly said...

so sorry for you both. so scary. Noah is the same way, you would never know he has something wrong with him, he just doesnt show pain. Praying for Angela and you!

Alyssa said...

Hey Leah..i'm just catching up on Angela...i'm so sorry to hear surprises me so much..when we had lunch she did eat every bite and i was so impressed. Oh I feel so bad for her if it was stuck there..ugh..I can't imagine. Many prayers for you guys..give me a call sometime if you want to chat.

msdee said...

I should check my blog more often. I just read your comment on my blog and followed the link you provided to this one. I just have to say that your description of your daughters achalasia has to be the most preecise I've ever heard from someone who doesn't have it themselves. I too became immune to the feeling so I know what your daughter is going through. I too appear to have nothing wrong with me if you see me but suffer on a daily basis.I do not want to get a tube even though I know that sooner or later i will need one but I'll wait for later when I can't anymore. I have begin forcing down the solids and have been dealing with the stuck feeling and then the final dump of the food getting through and reaching my stomach. I am determined to keep fighting this. I was in tears reading this blog because evrything was so familiar and so when I see it in someone so much younger than I it breaks my heart. Your daughter is so blessed to have a mom like you who understand andis her advocate. God bless you and your daughter and may He continue to give you strength to fight this darn disease.