Two words I hate: Cricopharyngeal Achalasia

I need you to go back on my blog several years. Six years, to be exact. You'll want to read this post, particularly the last two paragraphs. Then come back here.

Key word: Cricopharyngeal Achalasia = CA

I'm not sure what I thought six years ago when we sat in the office of Dr. Nurko at Boston Children's hospital. I remember him telling me, "Well, she's doing really well right now..." and we discussed plan of care.

About a year ago I noticed that Angela was having more episodes of food getting stuck in her esophagus, and just some subtle changes to how she was swallowing. Things like tucking her chin, which I knew she was doing to protect her airway. I started getting my mind prepared for the fact we would need to head back to Boston soon.

Then in April Angela had a very bad case of aspiration pneumonia. Actually her lungs didn't look too horrible on x-ray but she was having a tough time managing her airway. She had to be on oxygen for several days and her blood pressure kept tanking. Getting to Boston was discussed, but the doctors at St. Paul Childrens Hospital had never seen a patient with CA before. Gee, surprised surprise! NOT! Nobody has seen it. There are currently only three kids in the entire USA right now who are living with CA.  Angela is the oldest. Two are treated by Dr. Nurko in Boston. There was another person with DS who had the disease, but at the time we saw Nurko 6 years ago she had already passed away from complications of the disease. If I remember correctly she was 14 or 15 years old.

Let me tell you a tiny bit about CA.

There are three types:
1): acquired CA: Usually happens to elderly stroke victims and is not progressive. Most people with acquired CA die from complications from either the stroke that caused it or aspiration pneumonia. Acquired CA is not progressive.

B: congenital CA: It is not uncommon for newborns to have CA. It is not progressive, but the newborns need to have a myotomy (cut) in the cricoid muscle so they can swallow safely.

C: CA of unknown etiology. There is no known cause, and it is a progressive disease process. It is EXTREMELY RARE. It is NOT related to Esophageal Achalasia which is significantly more common. Again, it is a progressive disease.  This is where the last two paragraphs of that other post become important.

Now back to Angela's pneumonia back in April. She had one really bad bout and got over it. Summer marched on and we put it behind us. In the meantime I started working on getting Angela back out to Boston. One round of aspiration pneumonia in a person with Down syndrome isn't completely shocking. It happens and you move on.

On the August 30th Angela started coughing, which is not unusual for her. By morning her cough had changed a tiny bit. Around noon there was a shift. Her cough was sounding wet. I called the pediatrician's office who said they could get her in at 3:00. At 1:00 I put her in the car and headed for the peds office anyway. Its only a few minutes away. On the way there she said her chest hurt, and thats my indicator that we're headed for trouble. Her chest hurts because of how she's breathing. As always they put us right into a room and took her blood pressure right away. She was low, but not so bad that that she was going to crash on us. We did a chest xray and the tech showed it to me. Oh man...yuck...her lower right lobe was a mess. The doctor got all Angela's paperwork ready for me when I said, "Nope. I want her transported this time. Last time she tanked on me in the parking lot." Looking at how Angela was in that moment the doctor thought transport was a bit overkill but followed my lead anyway. Two young male paramedics walked in and Angela declared, "Oh, you're smok'in hot! I'm riding with you guys!" The paremedics seemed a bit confused that this very with it young lady was going to ambulance. I was following the ambulance when we came to a yellow light about four miles from the hospital. The ambulance made it through, but I did not. As the cross traffic started to move in front of me, the ambulance turned on its lights and sirens. CRAP! CRAP CRAP!!
I got to the hospital just a couple minutes after them. Angela's blood pressure had bottomed out in the ambulance.

Ok...that's about enough for this post, huh? I'll continue with another post so you can rest your weary eyes.

The week that Dean left town

Audrey and Abel had their surgery on April 7th.

On Saturday I took Angela shopping for her prom dress.

On Sunday Dean went down to Arizona. His parents own a condo there and that's where they spend their winters. Dean was helping them pack up then help them navigate the airport and fly home.

On Monday morning Angela got up from school very pale and running a low-grade fever. She's had a bit of "Monday-itis" several Mondays in a row, only she is truly not feeling well. (Its very odd and makes me wonder if there is something in the house she's reacting to.) Anyway, I kept her home and she ended up sleeping all morning. About 10:00 Axel's teacher called and said he wasn't feeling well, and neither was his interpreter. Around noon Angela woke up saying her head and neck hurt really bad, and she didn't want to turn her head at all. She also didn't want to wear her glasses, I think because of the migraine. It was time for us to visit Dr. Mary.

On the short drive over Angela started acting very strange. She was moving her hand in front of her as if she was wiping off a window, "My eyes is foggy." she kept saying. I took this to mean her vision was blurry. Then she started talking NONSENSE and doing a weird shaking with her head. I asked what she was doing. "I don't know. I'm shaking my head but I don't know why."

When I got her out of the van we started walking to the clinic door when she dropped to the pavement. I tried telling Axel to run in and get someone to help but he didn't understand what I wanted. After a few seconds she was able to stand back up though I was supporting a lot of her weight. I waived at the receptionist and said, "We're going straight to a room!" and kept walking.

In the exam room we got her up on the table so she could at least lie down. Her temp was still 101 with Tylenol and still she complained about her head and neck. We did some blood work and a strep test, which was clear. However, the doctor looked in Axel's throat and he had a real mess going on in there. He tested positive for strep. Given Angela's history the doctor wanted me to take her to the hospital, and she called ahead to let them know we were coming.

She was in bad shape when we got there. Her blood pressure was down to 60/40 and she was extremely dehydrated. (The ER doctor later told our ped. that we should have been transported by ambulance but her blood pressure wasn't that low in the clinic.)

We ruled out all kinds of things, including leukemia since her white count was at 28,000, in order to arrive at doing a spinal tap to test for Meningitis. Although three doctors had listened to her chest by this point, and all said she sounded clear, the ER doctor decided to do a chest X-ray to rule out a sneaky case of pneumonia.

And he wins the prize!

Unfortunately that hospital had no beds open so Angela was transported by ambulance to the partner hospital. Angela is all about medical stuff, and ambulances, etc so she was thrilled to get a ride!!! When I arrived there a short time later two doctors were in her room. That's when I was informed she not only had pneumonia, but a quarter size "pocket" of something they could not identify. It did not look like a mass, but some type of fluid. They asked if she had been exposed to anyone with TB. They also asked how long Audrey had been home. It was one year last month. Both doctors exchanged looks then wordlessly left the room. When they returned a few minutes later they were fully gowned, had face shields, gloves and booties. They didn't *think* she had TB, but it was possible and they weren't taking any chances.

So let me recap a bit: Angela is admitted to the hospital at what ended up being 2:00 in the morning. I had four kids at home, one of whom tested positive for strep. Dean was out of town. Luckly of all the kids to be hospitalized it was Angela this time. The one who always says, "Just drop me off at the door" and is disappointed when she doesn't get admitted!

As it turned out all the kids ended up testing positive for strep. I had my pre-op physical and begged my doctor for antibiotics so I wouldn't have to cancel my upcoming surgery. Dean came home in the early morning hours on Friday. On Saturday Angela was very disappointed to discover she had missed her prom, and on Sunday she came home.

The final verdict of this hospital stay is this was a bad episode of aspiration pneumonia. Angela's swallow has gotten MUCH worse, and we need to get her back to Boston to visit Dr. Nurko. He is the only doctor in the country who will treat Angela and her Cricopharyngeal Achalasia. The pulmonologist here, who works with people who have achalasia of the LES, doesn't want to touch her because she is high risk. The Pulmo here, who trained under Dr. Nurko and now has a manometry clinic here said no, Angela needs to back to Boston. ASAP.

Insurance says no.

I spent the past week both recovering from surgery and arguing with the insurance provider about getting Angela back to Boston. Guess what I'll be doing more of this week?

What we know we don't know

Today started out with an early appointment with the Pre-op team at Boston children's, and meeting with the anesthesiologist who will be doing Wednesday's surgery. Well, the appointment was SUPPOSED to be early, except that when I set my alarm on my Ipod, I forgot about the time change. I set the alarm for 5:45, and since Angela was NPO (aka nothing by mouth) sent Tyler down to sneak breakfast in the lobby. I got out of the shower and happened to glance at a small clock I hadn't noticed before......7:00!!!!!!! We were supposed to BE at the hospital at 7:00! I quickly called and they were really nice about it, just told us to get there as soon as we could.

We made amazing time, and walked in for our appointment at 7:29. That series of appointments took until 10:00, and I debated what to do for the 3 hour wait until the next appointment at 1:00. Whatever it was, I had to keep Angela away from food! We finally decided just to go back to the hotel and play Playstation. Ok...Angela played PS, and Tyler and I napped. ;-)

The next appointment was interesting because what they were planning on doing wasn't going to give them any information about what's going on. It would let them see some of her structures though. And, she did aspirate one swallow of the barium. Interesting, as we haven't seen aspiration in YEARS. So, now we know liquids are still a bit of a problem. For those who are new here, Angela had a gtube until she was 3 1/2 because of her inability to swallow liquids safely.

That done, it was time to EAT. By this time it had been 19 hours since Angela had eaten. Unfortunately the place we found to eat IN the Children's hospital, didn't have kid food! I don't know if there's another cafeteria here (I'll scope that out tomorrow.) but this place was not kid friendly at all. The only thing that had that Angela would touch was bread and Mac & Cheese. Only when we got to the table she wouldn't touch the mac & cheese. Finally I tasted it and discovered why. It had curry in it. Yeah..umm...not something Angela will eat. She ate half of my very tasty turkey wrap instead. (mmmm...I can still taste it, it was awesome!)

3:00 was the appointment we've been waiting for. Our meeting with Dr. Sam Nurko. First of all, what a very nice man! I guess you have to be if you're going to be working in a children's hospital, but still.

I had a whole list of questions with me, and found out the majority of them were irrelevant. Why? Because I haven't found anyone to talk to who has Cricopharyngeal Achalasia (which is caused by problems with the Upper Esophageal Sphincter, or UES) The only people found have Achalasia caused by the LES (Lower esophageal sphincter). While the disorders have similar names, they are completely unrelated. The risks of the two are very different.

So, for Angela, she has no greater risk of Barret's Esophagus (cancer of the esophagus) than anyone else.

Cricopharyngeal Achalasia is usually seen in very young infants as a birth defect of the cricopharyngeal muscle, which they usually outgrow. Or in elderly patients after a stroke or other neurological event. Angela's case is highly unusual BECAUSE of her age. While we believe she's probably had this since she was very little, why hasn't she outgrown it? Which leads the doctor to believe it was caused by whatever "neurological event" Angela has had.

Botox is often used in the achalasia of the LES, but they don't like to use it for Angela's form because it can affect the ability to swallow.

This problem was NOT caused by the nissen! Damage to the vagus nerve would have affected the LES, which is smooth muscle. The UES is striated muscle tissue, and controlled by the special swallowing mechanism, and not any one specific nerve. Very different from what the doctor at Mayo told me.

Tomorrow's manometry testing will tell us alot! First, she'll be sedated, and they'll place the manometry probe nasogastrically (through her nose then and down her throat into her esophagus.) then they'll wake her up. Once awake, I'm not sure exactly what they do, but the sensors will tell us exactly what area isn't functioning right when she eats solid food.

Assuming it shows what we expect it to, she'll have dilitation on Weds. She'll be put to sleep, and they'll go down with an endoscope, then use a balloon device to stretch out that area. Then she'll be woken up, and will stay overnight in the hospital so they can watch her eat and make sure A) the problem is improved and B) she doesn't have some new problem. If the dilitation works, it will last anywhere from a couple of weeks to a few months before it will need to be repeated. There's a "thee strikes" rule with this procedure. Three times and it doesn't work, and it's time to move on to other treatments.

About 50% of the time the dilitation doesn't work, and they need to do a myotomy (remove or separate the muscle) instead. That surgery is a BIG DEAL! And really...I think I'd have her go back to a g-tube before doing that surgery. We really didn't discuss this option any further, because we need tomorrow's testing, AND...I just don't want to go there right now. The biggest problem is this muscle works with the larynx. Remove or alter it and you will loose or seriously damage the voice.

For now, we're looking to tomorrow (Tuesday) once the tests are done, we're headed to the Boston Children's Museum for some fun time, while a friend of mine takes Tyler to the Aquarium. I'm sure both kids will have a lot of fun!

Two more weeks

Just two more weeks before we head to Boston, and it couldn't come at a better time. Dean and I have both noticed that Angela's swallowing has gotten more difficult. Weds morning before school she had something stuck (and I can't, for the life of me, remember what she was eating.) She ended up drinking 3 LARGE glasses of orange juice...one right after the other....to get her esophagus cleared. She would take several big gulps, the she'd stop and would make the throat-clearing type noise that she does. (that I can't duplicate, but it's not what you and I do!) Only to start guzzling her juice again. All for one or two bites of food.

It is awful to watch your kid go through so much pain and discomfort to do what she needs to do in order to survive....EAT! And yet, she never complains. I'm sure it's because she doesn't know any different. She doesn't know it's not supposed to hurt to eat. Needless to say, I can't wait to get to Boston!

I have the itinerary for her time at Boston children's. We'll arrive in Boston on the 13th. We're lucky that we're arriving in town early in the day, so we'll have the afternoon and evening to get together with some friends there. Some are my downsyn friends who we'll be meeting for the first time. I'm hoping we get a hotel with a pool so we can just have a pool party. Wouldn't that be fun? Not only would it be fun, but a good way to spend Angela's last night before a very difficult week. Now, if I could just loose 35 pounds between now and then. LOL

Then on the 14th we arrive at the hospital bright and early at 7:00 a.m. to meet with the anesthesiologist in preparation for later in the week. Fortunately Angela has never had any trouble with anesthesia, so I don't have any worries about this. At 10:00 she'll have an Upper GI and cookie swallow test (the same ones we did at Mayo last spring.) Then at 3:00 we'll be meeting with Dr. Nurko, the pediatric GI specialist. We're scheduled for a 90 minute consult with him (I'll be bringing the DVD player and a movie Angela has never seen! LOL) Then we're done for the day!

On the 15th she'll have an endoscopy with biopsies, and have the manometry probe placed in her esophagus. I'm not sure how long that stays in place, but she does have to eat with it in so they can see how well her esophagus contracts. (Our specialists here say little to none.) Once that test is done, we're done for the day so we'll have time to see some of the sights of Boston.

On the 16th she's on the schedule for another endoscopy, this time with dilation. This is where they try to dilate her esophagus to make it bigger. I'm pretty sure this is a "schedule it, because we can always cancel it" type of situation, hoping that Dilation will be the fix she needs! Once that procedure is done she'll stay overnight in the hospital to make sure she's swallowing ok, and that it did, indeed, help her. If it doesn't work, I'm not sure what comes next.

We'll scheduled to be on a flight home early on the 18th. I think it's going to be a long week! I'm not sure which part Angela is most excited for, sleeping at the hospital (without Mom because I've been ordered by her highness to sleep at the hotel! LOL) or the flights to and from Boston! LOL I've never met a kid excited about the hospital before. I guess that should be a good testament to the Children's Hospitals and Clinics system here in the Twin Cities. Obviously Angela is very comfortable with the hospital. She's had plenty of unpleasant experiences and surgeries, so their other services must far overshadow the bad stuff!

Boston and Cricopharyngeal Achalasia

Have you ever dropped the ball on something? How about, if you're the parent of a child with a complex medical history, have you ever just gotten so tired of the constant unanswered questions that you just stop???

Well, last spring, when we discovered how bad Angela's achalasia really is, the doctors at Mayo suggested we see Dr. Sam Nurko at Boston children's. In order to do that, it had to be approved by the state of MN. The state denied the request, saying the University of MN can do the testing here, and that the doctor here had done her training under Dr. Nurko in Boston. IF the dr. at the U of M writes a letter recommending we go to Boston, then we can go.

Insert big fat sigh here

I already knew the U of M had the testing equipment. I knew because I had called and talked to one of the program nurses who told me they'd *just* gotten it, and were being trained how to use it. Yeah, that's a comforting thought! NOT! I had images in my head of a doctor with a big head, all excited they have new equipment and look! A new patient with a very rare disorder! WHOO HOO! Jackpot!

And so I just stopped pursuing it. Angela has been like this for 12 years and we didn't know it, and while she's had some discomfort here and there, she's ok.

But this past weekend was NOT ok. Angela had a lot of trouble with various foods. Monday morning before school was exceptionally bad. She'd had a breakfast pizza, and it took her forever, with lots of retching and discomfort, and about 2 hours of drinking tons of water to get it to move through her esophagus. I felt like a heal. But Mondays are crazy busy for me with school, dog school, and other stuff.

Yesterday rolled around, and I realized I had NO EXCUSE for not calling the U of M. Especially when you consider they usually schedule out weeks to months in advance. I couldn't put this off any longer. So I called, and got the Ped. GI nurse, and said, "I'm not sure who we need to see there. Whoever trained under Dr. Nurko. But to be honest, I don't want to see ANYONE there, I just want a letter saying we need to see Dr. Nurko."

The nurse on the other end of the line chuckled. "Yes, we're very familiar with your daughter's case. (apparently it's been discussed among the three doctors) Dr. G. will be more than happy to write the letter so you can get to Boston. Our motility clinic isn't even up and running yet, and won't be for quite some time. We're still learning to use all the equipment, and have to be proficient with it before we can even think about testing patients with it. But the state of Minnesota says we have to physically SEE Angela, so how about if you come in tomorrow at 2:30 for a quick appointment, and we'll send you on. "

Are you serious? I have stalled for THREE months...why???? OMG! I could kick myself.

Once we have that letter, things should move very quickly. Dr. Nurko in Boston has already reviewed Angela's records, and has a plan of treatment for when we finally get there.

1) Do a new endoscopy, and at that time place the probe for the esophageal manometry testing. Because she'll have general anesthesia in her system, the probe will need to stay in 24 hours before they can start the actual testing. This is to make sure all the anesthesia is out of her system so it doesn't skew the test results. Hanging around with the probe in the esophagus carries it's own risks, but I'm not too worried about it.

2) do the actual manometry testing. This will tell us if the problem is A) due to nerve damage or B) due to a problem with the Upper Esophageal Sphincter. The outcome of the test determines our next step.

If the problem is found to be a problem with the sphincter muscle, they will go back in for another endoscopy, surgically separate the muscle, and also inject it with Botox to make it relax. This would need to be repeated about ever 2 years, and we would ALWAYS go to Dr. Nurko to do it.

If the problem is due to nerve damage, there isn't anything we can do. We will come home, and we will continue on as we have been. Eventually Angela's esophagus will give out, and she won't be able to eat solid food anymore, and possibly NO FOOD, and be back on a g-tube. So far, the doctors are surprised this hasn't already happened. As it is, her esophagus is completely slack. There is ZERO tone to it. Take a COOKED spagehtti noodle and hollow it out, now hang it from your jaw line to about where your stomach is. That's about how much tone Angela's esophagus has.

Obviously, we're hoping to find muscle problems! That's about enough info for now, huh? When I told Angela I was picking her up early from school today to see the new Dr. she was all excited that we were going on a plane to Boston today. LOL Whenever it is we go, we plan on being out there for a week. No time to DO anything there, just hanging out in the Children's hospital. I really want Dean to go along, but we really can't afford for him to go. It's not just his airfare, it's also paying someone to stay with the dogs.

So that's the update for today!

More from Mayo, and "stuff"

*For those who haven't been following the story, you might want to read HERE First, starting with June 25th when this whole mess blew up!

So today was our long-awaited appointment with the pediatric neurologist. We saw this same neurologist (along with a neurosurgeon) when Angela was just a baby and first showed evidence of a stroke. He's very nice, (And Gail, he has GREAT bedside manner AND even has the appropriate lingo down. LOL)

So first we went over the current issues. The seizures (new this past spring) the achalasia (that's been there for years, we just didn't know it was this bad, and how the GI dr. is convinced she's had a brain stem event because of the type of achalasia she has.

He did her neuro exam, and then we finally got to talk. I didn't really expect to learn much on this visit, but rather ruling out that she's had anything NEW happen. And, I was pretty much right.

First, he was impressed with how well she IS doing. He said what I always do.."You would never know by looking at her that her body holds all these secrets!"

We do have her very first CT scan done when she was 5 months old that shows a nickel-sized "shadow" on her brain stem. It could be just artifact, or it could be there was really something there. The brain stem is the most difficult area to study, of course. He doesn't feel that running any more tests would be beneficial unless there was something NEW going on...and there isn't. What information we *might* find would not alter what we're doing or planning to do for treatment. Based on her symptoms, and the swallow studies and old scans, he agrees that there was probably a brain stem event at some time, BUT..she did NOT have any problems swallowing until sometime after her nissen at 11 months old, and as far as we know didn't have problems stacking food in her esophagus until she was around 3, so he is guessing (and that's really all he can do is guess.) that this event happened sometime in toddlerhood and NOT at the initial stroke she had around 4 months old.

He's glad her seizures are well controlled with meds (as are we!) and says her left sided weakness is just has her regular neurologist describes: Very subtle...it's there, but if you weren't looking for it you might not find it. It is evident in her eyes as well, but today is the first time I've been told that. Also, her reflexes in BOTH legs are very minimal. Oh..and here's another odd thing. Just a couple weeks ago I told Dean "You know, I don't ever remember her commenting on smells." Like if you pass a dead skunk, or any other types of odors, she says nothing about the smell. Then like 2 days later she DID comment about a smell, only I didn't smell a thing so I think she was just talking to her herself talk.

Well, today he tested her sense of smell, and held up stuff right to her nostril. She SAID she smelled them, but he told me afterward that the smells he was holding up were VERY strong and should cause her to wrinkle up her face or turn away. She gave no reaction at all. Interestingly, that goes along with TIA's, which Angela has been having off and on for several years now.

So, we didn't find out anything exciting, but it was interesting to hear his perspective, especially about the sense of smell. Hmmmm....Anyway, we're hoping to be in Boston to see Dr. Nurko at the Pediatric Esophageal Motility Clinic sometime mid-late September. If the motility testing shows that it will be beneficial, she'll also have an endoscopy w/botox to the upper esophageal sphincter while we're there.

We are STRUGGLING with the soft diet. UGH! She's now started foraging the house for stuff because she's craving crunchy things. I think she's also going through a growth spurt (or is incredibly hormonal) because she's eating constantly.

Camp went very well. I did get a call on Weds about an incident, but they just wanted some insight as to what triggers the type of stuff they saw. I laughed, and said, "Wouldn't we all like to know?" Unfortunately sometimes her behavior is neurologically based, so it has NO purpose. It's not communication, it's just THERE. (other times there is definite will behind her behavior!) There is no predicting it. There is no trying to catch it before it happens. It's impossible, because there IS no trigger. That's the TBI (traumatic Brain Injury) component rearing it's head. The rest of the week she was just fine, and there were no further incidents. She LOVED camp, and can't wait until next spring when she can go again!