The New Beginnings

Our family is preparing for a lot of new beginnings. Putting an era behind us, something many families do. A move is a new start, right? Today we are leaving even more behind.

Today Angela had a swallow study. Let me give you a Reader's Digest version of the past  year.

Angela has always had trouble swallowing. As an infant and toddler she had a tube because she couldn't swallow liquids without aspirating them into her lungs. Then around age 7..or maybe 10...she was diagnosed with cricopharngeal achalasia. Lets just say, it is a really bad swallowing disorder. At 14 or so it got much worse and we had to seek treatment in Boston. (we live in MN).

We had 19 years of weird medical problems, manic behavior, aggression, seizures, stroke, TIA's. All chalked up to "well this can be part of Down syndrome." We swallowed that pill and always moved forward. Angela was on a slew of antipsychotic medications.

Then in April 2015 she developed aspiration pneumonia. Then again in July...and September. We did a video swallow, stunned to find she had lost the ability to swallow ANYTHING safely. Absolutely everything went into her lungs, and solid foods stuck right in front of her airway. Her swallow was completely uncoordinated and dangerous for her. We were devastated, and telling her she couldn't eat anymore was beyond hard.

In October she had a tube placed. She entered the hospital her peppy, sassy self, and left on her very special formula depressed. She stopped smiling and started sleeping all the time. We called it depression until one day she wouldn't wake up. We found her on the floor of her room, face down in the carpet. I thought she was dead. She wasn't, she was in a coma.

And ambulance ride. Can't get an airway. Intubated. Weird IV line thingy jammed in her leg (what the hell was THAT? It looks weeks to heal!) 24 hours and she was awake and smiling. Nobody knew why, but I suspected it was some kind of reaction to that amazing formula we put her on.

Two weeks. Another coma. Lots of head scratching and even some finger pointing (Maybe we drugged her?) I refused to take her home until they figured it out. I told them to give her that formula, there was a problem, I knew it. A call to metabolic specialists lead to the first ammonia test, which was the super fast ticket to the Intensive Care Unit and a rescue drug that would clear the ammonia from her blood....at the risk of killing her kidneys.

A whole new life of protein restriction because her liver couldn't process it. Crazy formula and drugs to the tune of $30,000 per month. Potential rare disease diagnosis (OTC deficiency) while we waited for the necessary genetic testing. More ICU stays. More confusion. No longer responding to the rescue drug. One smart doctor who never stopped digging, on a whim ordered a liver scan.

There it was. Abernathy Type II malformation. The rarest of rare liver malformations. Blood not going where it needed to go so the liver couldn't do its job. A move to a different hospital who would know what to do. They sent us home while they researched a possible fix. Consulting doctors all over the country to come up with a plan.

April 8th. An experimental procedure they've never tried before. It worked!!!! She is a whole new person!! Manic moods gone. Aggression gone. Seizures gone. Happy. Always smiling. A totally new person. Maybe her swallow was better too? Ammonia affects muscle tone and control, maybe it was the cause of the swallowing problems? It was a long shot. We started letting her eat more. Drinking liquids. She was doing it without developing pneumonias. No sputtering. No choking.

And then today. A new swallow study. Truly stunned.

She passed.

100% oral eating as of today. She is whole again.

She's not done. She has one more surgery that will be done in September. It will be the final fix for her liver, but it will be much less involved that the surgery in April. Her gtube will stay in place for a full year. She needs stay pneumonia free, and make it through the next cold and flu season without problems and then we can pull her tube.

It two days we will move to a new home. We are leaving far more behind us than this house. We're leaving behind the nightmare of the past many years. Two really. We have had two years of hell on Earth - cancer, comas, frequent and long hospital stays - and we're ready to leave it all and start over. Praising God for the miracles he has brought to our family.

The xray camera doesn't lie

....so she gets to the hosital via ambulance with a bottomed-out blood pressure. Long story short she had aspiration pneumonia again!! Ok, two bouts in three months is not a good sign. It was decided we would do another upper GI and a video swallow. At least those could get done here and not have to wait until we go to Boston. These are very routine tests. 

Angela is anything but routine. 

We did the upper GI first. Angela's nissen fundoplycation is still intact. She had the open procedure done at 11 months old. Amazing, considering they usually last 7-10 years. She did have distention at the base of her esphagus, and what appeared to be her hiatial hernia having enlarged a bit from previous years, but otherwise not a bad study. 

Next was the video swallow. This did not go so well. Oh, Angela did fine for the test, but the results were very bad. First, for comparison, you need to see what a normal swallow looks like. Sorry these are a bit tedious, but its easier that trying to explain.

This is a normal swallow in an adult.

video courtesy Neinia Ferguson

Now, here is Angela's swallow of thin liquids. It is easy to see where her airway is because the barium goes into it. You can also see the barium sitting in kind of a small bowl-type area just below her airway. This is the cricoid muscle that is so tight, it doesn't let all the liquid through. 

Next they would normally go to nectar consistency liquids, but we skipped that and went straight to honey thick. Not only will you see her aspirate, but you will also see that she has some residual stuck at the back of her throat. You and I would be coughing due to the sensation. Angela gives no reaction. 

Here come the solids. You'll see her aspirate. You'll see her tuck her chin to protect her airway. You'll see the solids stick in her cricoid. You'll see A LOT of residual food sitting in her pharyngeal area. You and I would be gagging. Angela gives no reaction.

Last, we send down some honey thickened liquid to help push the solids through the cricoid. The doctor asks her to cough because there is too much residual sitting that Angela isn't reacting to and its not safe. But Angela has lived her whole life like this so it feels normal to her:

Angela was discharged labor day weekend, with an appointment scheduled to see the GI specialist just a few days out. It is clear that the Achalasia has progressed. Her swallow study is significantly worse than it was a few years ago. Not only that, but she cannot swallow *any* consistency safely, including her own saliva. The decision is made that she needs to go back to a gtube.

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?

They're just words

The words of my life:

Cancer
Down syndrome
cricopharyngeal Achalasia
stroke
epilepsy
narcolepsy
trauma
seroma
breasts
gastrostomy tube
PTSD
RAD
side effects
inframammary fold
tissue expanders
implants
chemotherapy
mammogram
MRI
PET scan

Twenty words or terms that carry so much weight, at various points of my life dictating daily activities. While these words have certainly been the roots and stones causing me to trip along life's path, they certainly do not dictate my direction.

As I encounter each of these obstacles I am reminded that God allows for life's lessons and learning to happen. It is my job to pay attention to what He is showing me. There are some lessons I will recognize in the moment, others that will take years and come to me in an "Ah ha!" moment. I am sure there will be plenty of lessons I struggle to recognize. In my head exists a list, and on the day I stand before the Lord I will whip out that list and say, "Umm God? Ok, you know that one day when I was standing in line at the grocery store and…? So yeah…Umm ...What exactly was the purpose of that little incident?"

What are the words of your life that cause you to trip and stumble?

Phone Calls

Today was about being on the phone, playing tag with various service providers.

First was the genetic counselor. I need to find out my risks for breast cancer, as well as whether or not I have the BRCA 1 and/or 2 genes. These are the genes that cause breast cancer as well as several other types of cancer. While talking with the nurse she mentioned "You will also be going over your stroke risks." Umm yeah. Significant family history of stroke. We'll be meeting on Monday next week.

Next up was Angela's insurance provider. You know, she is 18 now. Things change at 18. Who knew? She has been assigned a TBI/Stroke care case manager who will be coming out for a visit. I don't even know exactly what for. With all the changes that have been made to healthcare there are a lot of services being cut so I hope it is nothing related to that!

And then there was the call to Children's Hospital of Boston. If you're new here, we live in Minnesota but Angela sees a specialist in Boston to manage her Cricopharyngeal Achalasia. This is a very rare disorder and there is nobody local who will treat it so Mayo sent us to Boston. Anyway, Angela needs to be seen again. Because it is out of state, it takes quite awhile to get this all arranged so I'm starting on it now with hopes of having her there in October or so.

I also called Amplatz Children's hospital to get Audrey scheduled for her MRI. Axel has an upcoming check up with his spine surgeon at Shriners in Philadelphia, and we need to get this done to determine if Audrey needs to be seen at the same time. I'm hoping to get this done around the first week of August. If only I could have gotten it scheduled, but it never seems to be that easy. I should hear back from them tomorrow.

Last were my two surgeons. One is the surgeon who did my lumpectomy. I wanted to talk with him about a mastectomy and get all the necessary details so I can make a decision. I'm waiting for them to call me back with an appointment date. The other is the plastic surgeon to discuss options for reconstruction. I have had work done by her before and I really like her. I've also seen pictures of her breast reconstruction work on women who had radical mastectomies done and I like what I see. Especially considering if I decide on mastectomy it won't be a radical procedure, meaning I would have much "cleaner" site to work with as well as more skin.

The afternoon was spent with the kids at therapy and getting some much needed stuff done, but thats another blog post! 

AAAA's

Some people are confused about all the A's in our house, and who is who. Let me go back and tell you a little about each one. It may help, or possibly confuse you more! HA!

Angela - age 16

Named for the angels of faith who kept her alive during a very difficult pregnancy. Angela, turning 17 next month, is queen of all. She is a partying kind of girl and there is always excitement when she's around! She is her own best cheerleader and is usually whooping and hollering with excitement over something. Angela is NOT a girly-girl! She has never played with dolls. Angela has no fear and will often jump into a new situation head first. She is a story teller (and there is no way to know if what she's telling you is fiction or fantasy because she is THAT good!) and a drama queen. One of her favorite things is attending summer street dances where she can stand RIGHT in front of the speakers and "shake my booty". Angela has a few medical issues, the most complicated being Cricopharyngeal Achalasia, Anhidrosis, Reactive Airway Disease and a stroke disorder that is accompanied by TIA's. She also has a hearing loss and wears hearing aids in both ears.

Axel - age 12

Named for my grandfather, Axel Lundgren. Axel will be 13 before we know it! Axel was adopted from Serbia in December 2010 and has been with us for 2 1/2 years. When he came he was wearing a size 5 and now he is as tall as Angela! Axel is the "strong and silent" type. He is very funny and very affectionate. He loves to brush my hair,  or anyone's hair. He is gentle and kind. He is a bit timid, often needing a lot of encouragement to try new things! Axel had AAI and subsequent spinal fusion 2 years ago on May 16th 2011. He was in a halo for three months, then three months in a neck brace. He has no other health problems.

Abel - age 10

The newest member of our family. Named for Adam and Eve's "good" son, Abel just turned 10 years old last month while were there to adopt him from Serbia. He has been with us 3 1/2 weeks. Abel is a very busy young man! He is super smart and quick to figure out how things work. (Dean and I can often be found getting Abel busy doing something out of sight so we can lock a door or put new batteries in something!) Abel loves to climb, and run, and just be ALL BOY! When we take walks he is usually kicking stones along the way. As far as we know, Abel doesn't have any serious current medical issues. I say "current" because we know he had an ASD at one time, as well as something with his mitral valve. He does have rumination syndrome that seems to be diminishing a bit. We start all his appointments this week to get all systems checked out.

Asher - age 8

Asher, from Genesis 30:13, was adopted from Serbia in December 2011. He has been with us over a year and a half and has changed SO MUCH! Asher is a total clown, with a sense of humor that never stops. He loves to climb up, in and under everything that is possible. He is constantly hopping, working to perfect the skill now that he can get both feet off the ground! Asher has AAI but so far does not need surgery. We are supposed to have a check up in June but since I haven't gotten it scheduled yet (I'm waiting to get Abel's X-rays done) I don't think it will happen until August. He does not have any other medical problems. 

Bravo!

Bravo! Bravo!

You've heard that before, right? Well, I'm not shouting it in excitement, or to express my positive opinion on a performance I've just seen.

Remember a few weeks ago when I was freaking out about having an endoscopy done? Well, the doctor was able to rule out esophageal cancer (Thank you, God!) but among the few things found in my esophagus, it was suspected based on my symptoms that I have Laryngopharyngeal Reflux, or LPR. If you read the symptoms listed on that link, I have every single one of them, the most bothersome being chronic throat clearing. I'm talking about every 50-90 seconds...twenty four hours a day. It even wakes me from a sound sleep. Many nights I've been sleeping in the recliner because 1) I wake up choking when I'm laying down and 2) Dean needs his sleep too! Needless to say, neither Dean nor I are sleeping very well, and living life in general is not very fun right now. The thought of sitting in a classroom in a couple weeks is really making me nervous. Because I can't do it. I can't not clear my throat because of all the crud that builds up in there every few seconds.

So yesterday was my follow-up visit from my endoscopy. The doctor told me, "based on your level of throat clearing (since I did it 4, 238 times during the visit) you have one of the more severe cases of LPR that I've seen, but lets get the Bravo testing done to verify that's what's going on."

So what's the Bravo business? Well, in Thursday I'll have a Bravo ph monitoring device placed in my esophagus. Now, with an endoscopy they sedate you. I had initially been freaked out that they wouldn't be able to relax me enough and I'd remember everything, but those doctors just happen to know what they're doing, and all went well. In fact, I'd do it again tomorrow since it gives me license to nap the rest of the afternoon. LOL But yesterday at my doctor appointment he told me they don't sedate for this test.

 Ummm...did you watch that video? First of all, I won't be able to NOT clear my throat long enough for them to put it in and secondly, HELLO! Anyone ever heard of a gag reflex????

So that's on Thursday.

Then on Friday I have a video swallow test done, along with an esophagram, both tests that Angela has had done about a thousand times. They're pretty simple, painless tests, that involve just drinking some barium, and swallowing some cracker also laced with barium. These tests are being done because of the difficulty I've been having swallowing the past few months, including food getting caught near my larynx on the way down. (similar to what happens with Angela's achalasia as seen during esophageal manometry testing which was done at Boston Children's. )

So what will we find out from all of this? Well, since my esophagus shows only a few changes indicative of Gastroesophageal Reflux Disease (GERD), yet I have chronic throat clearing and a feeling of constant phlegm in my throat, the Bravo testing will give a definitive answer.  With LPR, it's pretty common to not have symptoms of heartburn, so it's often referred to as "silent reflux". Funny...Angela had horrible silent reflux as an infant which, along with repeated bouts of aspiration pneumonia which are what led to her having a nissen fundoplycation when she was 11 months old.

I'm anxious to get this testing done. This problem has gotten so bad that it's hard to even carry on phone conversations, much less sit in a meeting or a class.

International Adoption Clinic

Yesterday Axel had an appointment at the University of Minnesota International Adoption Clinic.

FUN! No...really....it was very interesting!

First of all, it's in the Pediatric Specialty Clinic at at the U of M. I have been there plenty of times with Angela, particularly in the last 18 months as her local GI Dr. is there. (Angela has Cricopharyngeal Achalasia ) We have NEVER been treated quite the way we were yesterday. The nurse coordinator came out to the waiting room to introduce herself, and to let us know someone would be out for us in just a minute, and "sorry for the long wait". Umm...we'd been there all of 5 minutes!

Let me back up a bit. She called me two days before to see if I had any specific questions for them. Actually, I did. "Could you get us a referral to peds. cardiology so we can get his echo done ASAP, and...even more important...can you get him into radiology for his AAI screening? We need that done right away before he can be sedated or put under anesthesia, and Special Olympics, and cardiology he needs to be cleared before he can have dental work done." The nurse practitioner wasn't familiar with AAI, and they don't have a lot of kids with DS who come through, and the ones who do are MUCH younger (usually too young for the screening) I had her call down to the U of M DS clinic to specifically ask how to order the xrays, and where to send us that is familiar with doing them.

So back to the waiting room....

Not two minutes later Axel's name was called. First we saw the OT. (Occupational Therapist for those new to the lingo in the disability world.) This is not just any OT. She is an OT the specializes in working with kids who've come from environments causing severe sensory deprivation, such as orphanages and institutions. She did a quick assessment, but not super in depth only because I'd already done many things at home with Axel and gave her my input.

Still, it was interesting to hear what she had to say about those things, particularly the fact that at 10 Axel has not yet developed handedness. (ie, preference for left or right hand dominance) I have been just trying to figure out which side seems stronger to me, and encouraging him to use that side. She told me to wait. (ok, she practically begged.) Because he hasn't had exposure to large or fine motor experiences, 1) he hasn't had a chance to build enough strength and 2) his brain hasn't yet determined dominance. Well DUH! That makes a lot of sense! She gave me lots of suggestions on things to do at home to encourage him to use BOTH sides, particularly crossing midline since that's an issue for him. The difficulty will be with school and encouraging THEM to not force him to pick a side.

That done, the resident Dr. came in and took what little health history we had. Really...it's very little. I know he had an echo at birth and it was clear. (which means nothing in the world of DS. Angela's was clear too, and at 12 weeks old was discovered to have a HUGE ASD!) I know that he hasn't had any vaccines since he was a year old to 18 months old. I know that his foster family has never had to take him to the doctor. He DOES have a small scar on his belly that looks surgical, is exactly at midline and runs vertical. It is only about an inch long. NO CLUE what it is! It reminds me of a scar from a laparoscopic procedure.

Then THE Dr. came in. Her name is Dr. Kang, and I really liked her. (and I am choosy about my doctors, since we see so many of them!) Axel went right up to her to show her what he'd drawn with the OT, and she was very quick to bring him back over to Dean saying, "Lets bring it to Papa. Papa? Is it OK if I look at Axel's drawing?"

In other words, she was encouraging him to NOT just go to everyone, and that EVERYTHING needs to go through mom and dad. This is a bonding issue, and is HUGE! So many kids with DS will go up to anyone for hugs, etc. (if your child is 2 and doing this, please discourage it. It is a very difficult habit to stop and is NOT cute when they're 6 or 7 in school! Been there/done that with Angela, STILL WORKING ON IT at 14!) Between the tendency that so many kids with DS have, plus the un-attachment to specific people that Axel has, we have our work cut out for us. The good thing is, he DOES look to US for approval for things. When someone is obviously talking to him, he looks to us in a "checking in" sort of way. Some of that could be because we're his only source of communication right now, but it also has to do with the fact that we're his security. This is a good thing. She did give us some other suggestions to do to encourage bonding and discourage indiscriminate interactions with others, stuff that Dean and I knew, but we really need to be more insistent on it with family and friends.

Then she did the physical exam, not finding anything that was surprising to me. She also pointed stuff out to the resident (like his rotting teeth) so she could see things that are common to children who have been institutionalized.

Next it was time for blood work. Dean came along just for this! LOL Well, ok he wanted to be part of the whole thing, but I was worried about having to hold Axel for the blood draw so Dean came along to help with that. They took 12 vials of blood! They test for just about every parasite under the sun, particularly those known to exist in the country he came from. They also test vitamin levels (particularly Vitamin D) looking for deficiencies common to orphans. And then there are the titer tests to determine which vaccines he has/has not had. Axel does have chicken pox scars on his face, and he has a small pox vaccine scar on his arm so those should be clear. Axel did VERY well for the blood draw, as well as the TB puncture. He wasn't thrilled, but it wasn't like battling the spider monkey like at the dentist. I think that was only because he had no idea what was coming!

From there we went to Peds Radiology for his neck xrays for AAI. He was very good for those as well, and it took longer to get the paperwork done than it did to do the xray series.

We left with referrals to peds. cardiology and ophthalmology. Having the clinic get these appointments set up means getting into the other specialists MUCH faster than if I set it up on my own! He'll be seeing both of them at the end of this month, plus the ENT next week. That means we can get all necessary specialists in so we can coordinate the ones who will need to do work under sedation when he has his dental work done.

So, we're moving right along! The upcoming medical appointments, combined with school assessment means the month of January and early February are going to be very busy!

21 Things about Angela

1. We did not know prenatally that Angela had DS. It was a surprise to the doctors, and mostly to us. But the week before she was born, I knew something was up, and so when I was told the news I wasn't surprised at all.

2. Angela was born at 4 lbs 4 oz. Since that day her nickname has been "Peanut". All of her brothers, her dad and I still call her that.

3. Angela loves stripes. That's all she wants to wear is stripes, and the wider the stripes the better. Rugby type shirts are her favorite.

4. Angela's favorite area to shop is the boy department of any store. See number 3 for the reason!

5. Angela's favorite show on TV is "The Middle" followed VERY closely by "Modern Family".

6. Angela is a better dog trainer than most adults. It has never occurred to her that a dog might not listen to her, and because she expects a response from them, and she has no reservations and is all business, they do respond! That is exactly how I wish dog owners in my classes would be with their own dogs. (this can also get her into trouble with a dog she doesn't know!)

7. Angela's most favorite person in the world is her "Big Guy Dean". If we go somewhere, she always introduces us as, "This is my mom (like she HAS to say that part) and This is my big guy Dean!" (and fawns all over him! ROFL)

8. Angela is a "dual diagnosis" kid. She has Down syndrome/Traumatic Brain Injury. Sometime right after she was born she suffered a stroke or two, which in Minnesota counts under the TBI category. (in other states only an external blow to the head counts as a TBI) Then in December 2009 she was also diagnosed with complex partial seizures, which are also considered under the TBI label.

9. Up until a year ago, Angela was an extremely aggressive child. I mean, extremely agressive! She could never be around small children or animals without direct 1:1 supervision. Because of that we couldn't even consider adopting. I always questioned if it was truly a behavioral disorder or some type of seizure because the behavior was unprovoked. Finally one day her neurologist saw an episode in his office and said, "Is THAT what you've been seeing? Because THAT is a seizure!" She was started on a specific kind of seizure drug that day, and since then she is a completely different kid! She has had 3 or 4 breakthrough seizures since then, but they are short. Because they don't look like a seizure, we're like, "Where the heck did that mood come from? Oh yeah! Bet that was a seizure!" We get her medication levels checked and sure enough, she needs a dosage adjustment.

10. A year ago Angela told me, "Mom, I have bad news. I'm moving far away and you're not coming." I think it's safe to say she will NOT be living with me forever!

11. Angela has had 22 major surgeries, and at least that many minor procedures. Often with several things done at once. (like ear tubes, tear duct cleaning and tooth extractions all at once.) We call these "tune ups"! LOL Most of her major surgeries have been GI related.

12. When I shattered my wrist a couple years ago Angela was in 7th Heaven! She got to play nurse FOR REAL! As soon as my doctor made me stop wearing my brace, Angela claimed if for herself and wore it for several weeks.

13. When Angela started preschool at 3 years old, she was only able to say a few words, but she signed more than 600 signs. She had more, but that's where we stopped counting. I was a Sign Language Interpreter for almost 25 years, so the signs were all in my head and I didn't have to look anything up. I was able to sign naturally with her.

14. Angela has Cricopharyngeal Achalasia. It is very rare, and is unrelated to Down syndrome. This is a progressive disease, and extremely rare in children. In December 2009 she had surgery in Boston to improve her ability to swallow but it didn't work. We were supposed to go back to discuss much more invasive thoracic surgery. We haven't gone back. Angela has horrible problems with wound healing and I just can't stand the thought of putting her through this horrible surgery. It will be FAR WORSE than any surgery she's ever been through. Right now she's stable, so we're just waiting. I'm trusting God to tell me when it's time to start looking at this again.

15. Two years ago we switched from windows operating systems to Macs at home. Angela taught Dean and I how to work our computers. LOL She's still showing me how to get to some things.

16. Angela is willing to try every sport there is to try. Really, she's willing to try anything, since she has no fear.

17. Angela has 4 older brothers. Rob 24, Noah 23, Tyler will be 22 soon, and Bryon 21. She also has a step brother Aaron 21. Is it any wonder she's not a "girlie girl"? LOL

18. Angela has the best sense of humor ever. Seriously, this kid can work a crowd! Dean and I are pretty immune to it but some people are pretty entertained by her. (I don't think her brothers are. LOL)

19. Angela hates breakfast food. When she gets up in the morning she asks for lunch because she hates all typical breakfast foods and would rather have a sandwich or lunch type foods. I have to get pretty creative to get her to eat before school. (She is my polar opposite. I prefer breakfast food over anything else. LOL)

20. Angela loves to watch Dean league bowl every Thursday night. The waitress there knows exactly what to bring her for a drink and brings it for her before Angela even makes it to the table. Angela knows every person on the league, I think. (and there are a lot!) She cheers for every bowler and gives them high-five's for all their strikes and spares.

21. Angela loves unconditionally like the rest of us should. She forgives quickly like the rest of us should. She's never afraid to try new things, like the rest of us should do. Angela is the most amazing person I know.

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!

Impending something

My blog post title today says it all. I don't feel a sense of impending doom, but it's close to that. All is not at rest in my soul.

I'm very worried about this trip to Boston. It seems every time we see a new specialist we find out things are worse than we thought, and I expect the Boston testing will end up no different.

Let me put this into perspective a bit. Achalasia, which is the name for a lack of paristalsis in the esophagus along with a malfunctioning LES and the subsequent stretching of the esophagus that comes with it, is rare. Fewer than 1/100,000 adults have it. Of those who have it a small percentage need surgery for it. The rest manage with dietary changes and endoscopic dilations. I have found a few blogs, and a list serve for people with Achalasia. There are a couple of parents of teens on there.

But the type of Achalasia Angela has, Cricopharyngeal Achalasia, is even more rare. This happens at the TOP of the esophagus, causing food to get stuck right in front of the airway. ( The fact that Angela is still alive is pretty much a miracle. The fact that her lungs haven't been severely damaged by daily aspiration is nothing less than a miracle.) I have found MENTION of C.A. in reports online. And I have found mention of it in studies. I have found descriptions of it on medical journal sites. I have yet to find someone who actually HAS it. Those of you who know me, know that if it's to be found, I will find it! I have spent countless hours rooting around the internet and I'm just not finding these people!

I have not gone into all the details here about the possibilities for Angela. I'm just not claiming those things for her, and I prefer to live believing a less-invasive option will help her. Until the doctor tells me something different, I'm going to keep my rose-colored glasses on.

And yet, how can I ignore the possibilities? So, I'll lay it all out here on the table.

First, if the problem is found to be *just* the UES (upper esophageal sphincter ), then while we're in Boston she'll have either a myotomy (removal of that muscle) or she'll have it dilated and injected with botox to help it relax. This is the outcome we're praying for!

If the problem is found to be with the vagus nerve, then we have bigger problems. The risk of Angela developing Barretts Esophagus (cancer of the esophagus) is extremely high. The fact that Angela's esophagus is just completely slack and really does *nothing* is of huge concern. If myotomy (separation of the muscle) isn't an option for her, eventually her esophagus will need to be removed.

Yes, you read that right.

Some people who have their esophagus removed have it replaced with a section of their own small intestine. Some just have their esophagus shortened, stretching the fundus, or top part of the stomach up to meet it. But in Angela's case, it would be her ENTIRE esophagus. And, given her history of poor wound healing, this is just NOT something she could tolerate. Not just the removal part, but the putting back together of various bits and pieces! Her scarring abilities are crappy, to say the least. Her surgeon here, who I absolutely adore, said he'd never want to touch her again unless there were no other option. Her last round of surgeries 6 years ago, which should have been a one-week stay in the hospital, landed her there for four and a half months!

So, when you remove the esophagus, how do you eat? Well...that all depends upon how things are put back together! Some people, once everything is reconnected, are able to eat and are pain free for the first time in their lives! It can be a real blessing to have it removed or shortened. Some people end up using a gtube instead. In Angela's case, since using her own intestine really isn't an option, she would end up on a gtube. THAT doesn't scare me, since she's had a gtube before. And really, she's old enough she could do most of the gtube stuff herself now. The problem, once again, goes back to wound healing. When she did have her gtube before, the stoma kept breaking down and stretching out. Pretty soon it couldn't hold a tube in place and every couple of days we'd have to take it out and let it shrink down a bit. More than anything it was just a pain in the ass to deal with. But, maybe now that she's older, things would be different??? I don't know.

Have you ever seen Angela eat? Have you seen her enjoy every last morsel of a plate of french fries? Have you seen her chug a root beer? Have you seen her at Applebees (or any restaurant for that matter) and seen her in heaven with food? It's not something I want to take away from her.

So, that's what I laid awake thinking about all night. All these things coming up. What will they find, and how will they fix it? I'm also dreading that Dean isn't going along to Boston. I don't want to be alone if they give me bad news. It will be up to me to stay composed with Angela sitting there, and I just know I won't be able to do that.

............sigh.............

Just being real

This is me, and this is me being real....

I was going back over my blog posts the last couple of weeks, and most of them are negative in some way or another. I guess I'm in a funk! And then I realized why. It has been a very long couple of weeks with Angela.

I have no idea what is going on, but she has been absolutely horrible. There are a lot of factors contributing, I'm sure, hormones being one of them. But the rest? It's a mystery. Some of you reading know Angela personally, and have seen her when she's in her worst moods, so let me just clarify, THIS IS FAR WORSE! I haven't seen this level of aggression in a very long time. I won't go into all the details, but let just say WE ARE AT OUR LIMIT!

Not only have I been in tears every day, but I've gone to bed in tears because I either feel horrible about the day, or wonder how I could have handled various situations differently, or because I'm worried that I'm going to wake up to more of the same the next morning and have to do it all over again. It doesn't help that the only break I can really count on is when she goes to her dad's, and he's bailed on my the last couple of weekends. When all I'm doing is struggling to make it to the weekend when I know I can get a break, and then it's pulled out from underneath me. No, this does not go over very well in my spirit.

So yeah, this whining is all about me, me me me me me me. But what about Angela? She can't be happy. Why isn't she happy? Why is she so miserable that she's determined to make everyone around her miserable. Why is she SO ANGRY? No kid should be so angry. Is this just what happens when a kid can't communicate her displeasure with the world like a typical teenager can? I have been through some very rough teenagers, and believe me, this is FAR WORSE!

Or, maybe she's just in PAIN? Anyone I've talked to with Achalasia says it's excruciatingly painful, and we know that it's progressive. We also know that Angela has started having more trouble swallowing over the past few weeks, so maybe some of this anger is coming from discomfort?

So there are lots of questions, and there are no answers. That's the hard part for me mentally and emotionally. That there is no end in sight. That we will probably have this for many years to come and it makes me exhausted just thinking about it. Angela is so smart, and so funny, and so CAPABLE, but this crap holds her back in so many ways. The other day her teacher was in a situation with her, and kept reminding herself that WE live with this. We don't get to send the kid home and then enjoy the rest of our day. That was both validating and sad, all at the same time.

So that's my "being real" post for today. I'm a person who likes to find the good in all things, and man, I am STRUGGLING with that right now!

Stress

I think it's safe to say Dean and I are stressed right now. Prayers would be a good thing.

There just feels like too much stuff happening at once. School is a HUGE thing on my plate right now, and I keep thinking "I've only been at this for 8 weeks. I have two more YEARS ahead of me!" And..umm...HELLO two of my classes are easy! (the just eat up time. grrrrr) But I know I'm supposed to be here right now. I know it. And I enjoy going to classes. The work hasn't been super hard (well Anatomy is!) The other night we were watching "Brothers and Sisters", and one of the brothers is in a REAL anatomy class (with cadavers. blech!) and learning "the hand", which we just finished. The hand and arm is grueling! Do you know how many muscles and nerves are in there??????? OMG! Do you know how many bones make up YOUR WRIST? UGH! And they all look the same. And every little bump on them has a purpose. But, I digress...

So, there is school. There are the dogs, which have been mud-soaked for 2 or 3 weeks now thanks to the fact Mother Nature seems to have a bad case of H1N1! Muddy dogs means a muddy house all.the.time!!!!

Of course, there is Angela's behavior, which is a constant. I've gotten "that call" from school every day this week. Except yesterday. Yesterday the phone rang at 2:59, and school was on the caller ID. When school calls at 2:59 it's because something happened causing Angela to miss the bus. They're swimming at school this week, so all of her behavioral problems have been related to that. It just so happens that swimming is their last class before bus time, so if Angela has an issue, she misses the bus. So yesterday I answer the phone at 2:59 with, "I'm headed to the car right now." Only I was wrong! Her teacher replied, "No! She's on the bus. It's just I've had to call you every day this week, so I wanted to be able to call with something positive!" Then proceeded to tell me how swimming went WELL because of an extra script they've added to help Angela make it through the transition from pool to locker room.

So her Thursday may have been good, but the rest of the week not so much. I have a TON of homework this weekend, so was looking forward to Angela going to her dad's so I could work uninterrupted while Dean is trying to get fall outdoor projects done. Only someone named "Harold" is sick at her dad's work, and for some reason when "Harold" is sick, it means her dad can't take his weekend with is kid. Ok, I'm going to keep my mouth shut and not say anymore on the topic! Those that know the story know this happens on a REGULAR basis. Today there is no school, and I'll be trying to right a final paper for one class, that is due at 4:00 this afternoon. Say a prayer, will ya? LOL

Then, of course, there is the whole medical mess that is Achalasia. I spent most of yesterday on the phone (when really I should have been doing my paper that is due today!) with either the U of M, Boston Children's, or the state of MN. And every time I watch Angela eat, I want to cry.

And then there are "other stresses" that I'm not going to mention here. They just exist, and they put a strain on everyone in the house. They're normal things, but we have too many abnormal stresses so the normal ones seem bigger I guess.

Ok, no more downer posts! Blech! Pooey! Wrong way to start the day.

Update on Dr. visit

The specialist at the U of M is writing an "Emergent" letter of recommendation to the state of MN stating that Angela MUST go to Boston for highly specialized testing ASAP. She's also calling Boston to have them schedule her asap as well. One of her many questions was, "How soon can you travel?" We could go as early as the end of next week, or it could be a month from now. It all depends upon how fast the state of MN and the Boston clinic can work things out.

She did say that Angela also needs rectal manometry done, because chronic constipation often goes along with Achalasia, and it's important to find out the cause of Angela's constipation. It could be she has nerve damage there too. So, she'll be having that testing done next week on Weds. Please pray for her, this is horribly embarrassing testing to go through at 13 years old, and she'll be completely awake for it.

We're also trying to figure out how Dean can come along on the trip. I really need him there with me, and Angela will be thrilled that he's coming along as well. (he rates far higher than I do! LOL)

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!

How did you get here?

You may have noticed, on my right sidebar, I have a live feed that tells where people are coming from to get to my blog. Some people have me bookmarked, while others come via someone else's blog. But there are many that come via google search. Wanna know what they search? These are the most common, in order of frequency (with links to the post the search brings them to):

Dog nails : People have a lot of questions about their dog's toenails! Seriously I get 3-4 hits per day on this topic, which cracks me up. The biggest question is "does the quick grow?" one person wondered, "Will my child get sick if she eats dog toenail clippings?" Ummm....eeeeewwwww!!!! For those of you who searched, YES, the quick (or vein) in your dogs nail grows along with your dog's toenail. The longer the nail, the longer the quick. So if you've gotten behind on trimming your dog's nails, it's going to take awhile to get them trimmed down short. Each time you trim the nail to the EDGE of the quick, it causes it to shrink back a little bit. So, trim your dog's nails each week and before you know it he'll have tiny nails that won't be marking up your floors!

The Witch Tree : Yep, that comes in number two. I'd never heard of it before last year, but apparently it's quite popular. People from all over the country search for this thing. Can someone tell me, how did you hear about it? What shocks me even more is I get at LEAST 2 hits on this every day.

Palate Expander : Lots of people looking for pictures of a palate expander, and wondering how it works, and is it really necessary for their child. Unfortunately for us, it wasn't the best thing for Angela. Oh, she needs it! But her swallowing is too unstable for her to be comfortable wearing it. She was awesome about me cranking on it, and cleaning everything, but she couldn't eat at ALL while it was on. That was one very long week!

Narcoleptic Insomniac: You see, I have Narcolepsy (I was diagnosed about 12 years ago, as was my son Noah when he was then 12) and there are periods of time when I don't sleep. Thus, the title of the post.

Achalasia : Angela's palate expander causes us to find out exactly what IS going on with her swallow. This landed us at Mayo clinic, and getting lots more scary news. There will be an update on this later this week. By the way, Angela's specific type is called "Cricopharyngeal Achalasia". Which is the fancy way of saying the cricoid cartilage of the esophagus in the pharyngeal (upper esophagus) region, and "achalasia" which means difficulty swallowing. Put it all together and you have difficulty swallowing in the region of cricoid cartilage of the upper esophagus in the pharyngeal region. Aren't you glad you asked? Again, check back later in the week for updates about this issue!

"What causes Down syndrome?" : Well, October is a good time of the year to find that information, since it's Down syndrome awareness month! But this question brings people to my blog a couple times per week.

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!

Small Update

Yesterday I got to speak with the GI at Mayo who's following Angela. She said looking at the Upper GI that was done last week, it is NOT classic of Achalasia. It is "insert word here that I forget" Achalasia, which is more indicative of what they see in an older person who's had a stroke within the brain stem. It's possible we could try dilating the narrow area at the top of her esophagus during an endoscopy. If it works, it will probably need to be repeated every few months for the rest of her life. This makes A LOT of sense given Angela's history. AND...way back to her very first CT scan when she was somewhere around 4 months old. The one that was prompted by our EI PT who came to the house and noticed that Angela was not using one side AT ALL. That landed us in the ER, and the next morning having that first CT scan done, where they saw "a nickel size shadow on her brain stem." To which I said, "She's just 5 pounds, and her brain stem isn't really any bigger than that!" She did NOT want to change Angela's eating program until we have ALL the tests done, but also said, "It wouldn't hurt to have her on soft foods and liquids only until we have this sorted out." We really need to have her esophagus looked at to make sure there isn't any erosion happening, but I also don't want to change her diet then wait 2 months to have the scope done and have everything look ok BECAUSE we changed her diet. I'm kind of thinking...you know...she's been eating like this for 12 years, what's another few weeks? So, here's the schedule so far: Tomorrow (July 2nd) Meet with Genentics. I do tend to get impatient with genetic counselors, so I could use some prayer for patience with this one! LOL Monday, July 6th, 9:30: Intake with OT 11:00 Video Swallow with OT/ST 1:00 Meet with OT again 3:30: Meet with Dr. Freese (GI) July 23rd: Meet with Dr. Patterson, Neurology Still to be scheduled: Endoscopy w/biopsy Esophageal Manometry (Mayo won't perform this test on peds, still waiting to find out if Minneapolis does. Most likely they do.)

What would you do?

I'm feeling a little bit angry this morning. We were told almost 4 years ago that Angela had Achalasia, and that her GI doctor had never seen an esophagus like hers, and pretty much left it at that. I asked if we should go to Mayo, and he just kind of shrugged his shoulders.

Angela should NOT have gone this long without treatment. Plain and simple, her GI doctor should have sent us on to someone who HAD seen it before and knew what to do about it. At a bare minimum, she should have been having endoscopies and esophageal biopsies done every 6 months, because her risk of esophageal cancer is very high.

Then there is the fact she has been SUFFERING with this for all these years. HELLO!!!!! We have had YEARS of wretching, and her having food stuck in there. And, from reading the blogs of other people who have Achalasia, she probably has food that sits there for hours at a time (or even a couple of days!) which causes the esophagus to become weak and stare eroding. Angel hasn't had a scope in nearly 4 years, so we have no idea what it looks like inside there. Her tissues *could* be fine. Or, very worse case scenario, they are NOT and we're looking at much bigger problems. The point is, it should have been monitored and we shouldn't have been just left to wander around life thinking everything was ok.

What would you do? How would you handle that? I don't think it should be ignored, but I don't know what to do either.