Diagnoses

I have been meaning to update for over a week and somehow the hours keep ticking away and there just hasn't been a moment.  We are all incredibly exhausted and still trying to recover from the hospital.  That being said, I wanted to fill everyone in on what they found while we were there.

As I had mentioned previously, one of the biggest things that Dr. P had brought up and wanted to look into was the colon function.  Oftentimes if the colon is full it will send signals to the stomach that there is no more room and to therefore not empty any more contents, thus delaying the gastric emptying process.  This is something that no other doctor had either mentioned or looked into before.  The first thing Dr. P wanted to do with Charlie was to clean out her colon by starting a regime of laxatives, which I had mentioned previously.  It has taken several months to find the appropriate dosage for her, the one that gets her bowels moving consistently since she is chronically constipated as a result of all that is going on with her.

When scheduling this last round of tests it was incredibly important that we have her at the right dose and that she was "going" regularly (although forced with laxatives).  It made for, as she said, "the best circumstances instead of the worst."

With all that being said, everything that we had originally thought to be wrong with Charlie we have now to come find out is not quite the case.  Her original diagnoses of Gastroparesis is not what is actually wrong.  Each test she had that definitively proved that she had Gastroparesis was a result of her colon not functioning properly and being too full, therefore sending those signals to the stomach to stop emptying.  What she does have is called "Neuropathic Small Bowel Dysmotility."  It is an incredibly rare motility disorder, especially in children, and one frankly I still don't fully understand.  What I do know is that it is quite the opposite of Gastroparesis but with many of the same symptoms.

In a healthy individual with normal motility the Small Bowel (which is your small intestine) goes through three different phases.  The first phase is the resting phase, which occurs between meals/digestion.  The second phase is the mixing phase where the food is churned up so that it can be digested and pushed down towards the large intestine.  Lastly, there is the recovery/housekeeping phase where remnants are pushed through along with any added secretions.  Charlie's intestines only go through one phase, which is the second phase.  There is never any rest and never any recovery.  In addition, the contractions that she does have in that second phase are arrhythmic and incredibly frequent and strong.  This is true for the contractions in the stomach as well (strong and frequent.)  Therefore, Charlie's small bowel (intestine) is extremely hyperactive, irritable and incredibly inefficient.

For the time being we now need to change the course of treatment.  We have taken her off of the Erythromycin as that was incredibly counterproductive.  It was forcing stomach contractions in a child who was already having forceful contractions.  We have now been prescribed some new medication to try which will work at hopefully slowing down the signals from the nerves and therefore slow down the contractions.  We have decided to give her body a bit of time to bounce back on its own from that last medicine.  She has never had a chance to solely be on the Miralax and we want to know what kind of an effect that will have first.  We will reevaluate her in a few weeks and determine when we need to start her on the new meds.  It is most likely not going to be a matter of "if" but a matter or "when."  Unfortunately, this diagnoses can be a very painful one for Charlie.  The strength of the contractions and the fact that there is no rest is most likely why Charlie feels pain when she eats, and therefore does not want to eat.

The last component to all of this is that the belief now is that the true underlying cause of all of this DOES lie in her colon.  She most likely has a hyperactive stomach and small bowel because she has a hypoactive colon.   For the time being she can be managed on the Miralax and then she could potentially need to go back and have the colonic version of this test repeated in the next year or two to see if they can determine what the underlying cause is in all of this.  Could there be something there that is bigger?  Or something that could be fixed, etc.?

So, there you have it.  We now have a solid diagnoses.  Different from where we started, not sure if it is better or worse, but it is a real answer and we can stop looking and work on moving forward and making her comfortable.  This has been an incredibly exhausting week beyond words, but at the end of the day we can thank our lucky stars that we went through all of this to get to where we are.  How we got lucky enough to find this amazing doctor in our own backyard we will never know.  Our fingers are crossed that now that we know what is truly going on we can stabilize her eating situation, help her put a little weight on, grow a little and help her to stay comfortable.

The Rest of the Stay

We are finally home, trying to get some rest.  The last two days at the hospital were definitely better than the first.  It was hard to keep Charlie in bed for the test.  She was still groggy from the anesthetic and hating the fact that she had a tube in her nose and IV's all over her hands.  Overall, I think the pictures can tell how the last two days there unfolded better than I can....

The nurse came in on Thursday morning to connect the sensors and begin the test.  They also ordered an Xray to check again that the sensors were still in place.  Xray came to the room, did it on the spot and we began.  

During the test Charlie got to play doctor with Mr. Potato Head when Grant came by to visit.

Then she got to check on daddy's heart beat.  After all, she had her vital signs checked so often she should have a turn to do it herself.

During the manometry testing (and throughout our stay), she watched the "soothing sounds" video of the underwater scenes which included activity on a coral reef, fish swimming by, dolphins playing, etc. on REPEAT!!! It was hysterical.  She would yell for the "pishies" as soon as it would end so we could start it over.  Thank goodness for this kind of television.  Maybe she has a future as a scuba diver.

Forty-two hours after her last meal she was finally able to eat.  She was actually excited! We ordered her some macaroni and cheese, a milkshake and vanilla pudding.  It was needed for the testing.  She had 20 minutes to get down 400 calories (which is why they had to order calorie rich food.)  She made it in the knick of time.

We even set up her baby doll (who was also equipped with a tube coming out of her nose, an arm splint to cover up all of the IV ports and a pulse ox monitor on her toe) to eat with her.  She fed her some of the meal as well.  It got messy!

 In order to keep her still we let her do some dot art....

and play with her doctor bunny.  By late afternoon the test was over and we got to take the nose tubes out.  We asked that they unhook her IV's for a few hours so we could let her get out and about.  The hospital has a little playground for the patients so we took her outside to play.

 She only lasted a short time but she did love the slide.

 She also loved just being able to walk in the halls not attached to any other devices.

The next morning we had to wake her up and start all over.  They loaded her in a wagon to take her back to Radiology.  She loved rolling by this animal mural in one of the hallways.

This burrito wrap was used to hold her down, which she definitely did not enjoy.  She complained of being hot.  She could not move for several hours.  She did get to watch Elmo, however.  She eventually gave up the fight and fell asleep on the table.

 When she was all done we got to wheel her back up to the room.

Once we got back, her doctor came back by to check her out again.  She was not entirely thrilled that her fish video got interrupted but she still let her check her out.

Before they would let us go home they needed to draw blood to test for some different things, give her a flu shot and remove all of her IV's.  As you can see, she was NOT happy.  

We did get to meet with the doctor and speak extensively about what they found.  We can home from the hospital late yesterday and are now trying to recover from an incredibly emotionally and physically exhausting experience.  Hopefully, this weekend will be filled with lots of rest and sleep for ALL of us.  

Yesterday

We had our pre op appointment for Charlie on Tuesday and it was DISASTROUS!!!  We showed up and they sent us to surgical admitting to have a routine appointment (check vitals, listen to lungs, go over medical history, blood work.)  We met with the nurse first and then we waited FOREVER for a doctor to come in!!!  Finally someone came in and informed us that they had sent us to the wrong place and that we should have gone to the radiology department for the appointment since that is where the procedure was being done.  We needed to head over there and start all over.  While walking over there someone came running after us in the halls yelling at us to stop.  When we did she said there was another mistake.  They actually needed to admit us then!!! She said that there was a mistake in the system and that we were told about the appointment incorrectly.  This was actually the time for us to be admitted and not a pre-op.  We both panicked.  I needed to be back at work and so did Judson.  We needed to get Levi from school, finish packing, etc.  She took us to radiology to find out what was going on and they confirmed the plan.  I frantically called my mom to help.  Then they took us back to the admitting department to call the GI floor to get the bed ready and go over all of the instructions.  There was a lot of back and forth, explanations, etc.  Then they decided to take us back to radiology to go over everything and discuss the next steps and admit us.  When we walked in a lady said, "So today we are going to do your pre-op and then you can come back at 6:00 tomorrow morning." While this is going on a Jonas brothers look alike came in to the waiting room with his guitar to sing "Twinkle Twinkle"  Seriously, straight out of a movie.  If you are having a hard time following, welcome to our world, it was seriously that crazy and hectic!  At that point we were royally confused and pissed off.  No one knew what anyone else was doing.  We called the GI floor ourselves and got on the phone.  They confirmed that they decided we could go home but we needed to be back in the morning.  So, we went with it in hopes that it was actually the right thing to do.  We went ahead and did the pre-op and the blood draw.  She didn't even flinch.  Instead, each time they took a vile she said, "All done!"  Judson and I both left as fast as we could to get back to work so we could wrap up before checking in yesterday......

Yesterday was THE MOST TRAUMATIC yet!  We arrived at the hospital at 6:00 ready to go.  Charlie was in good spirits.  We went to admitting where they handed us the paperwork for the wrong child.  When we informed them that we were here for Charlie and not Tanya they straightened it out and sent us over to radiology to prep Charlie for her procedure.  It was a normal pre-op situation.  Sit and wait.  Vital signs, etc.  Doctors came in to explain everything, sign consent forms, etc.  Eventually it was time and they came to get us. Now let me preface this next part by saying that Charlie has been under general anesthesia several times before.  Each time they have given her a little something to calm her and they would take her from us after saying our goodbyes.  This time they had us take her to the OR.  It was just as you would picture, large sterile room, monitors everywhere, cold, people buzzing everywhere and she was instantly freaked out.  She was clutching me for dear life.  We were trying to calm her down until at one point the anesthesiologist asked me to lie her down.  She was pissed.  Flailing about and screaming.  They put a mask over her face and within seconds she was gone.  I'm not sure what I was thinking they were doing, but I was not mentally prepared to see her being put under.  It was hard to see the eyes rolling back and her gone.  We didn't get to kiss her goodbye and reassure her, etc.  We were asked to leave so they could intubate her, etc. and they would call us when they were done.  So, it began! 

We were called about an hour later to come to the recovery room.  When we got to the door you could hear this blood curdling scream.  She was beyond pissed.  The tubes they had placed were making her miserable, she was in pain.  It was rough.  She kept looking down at her hand and all of her IV's and would start to cry all over again.  At one point about an hour in she looked down at her hand and muttered her first words, "OH NO!"  We couldn't help but laugh.  

Eventually, they moved us up to our room and hooked up all of the sensors to start the testing.  It was pretty evident from the start that there was a problem.  They called in the doctor to come and take a look.  Of the 8 sensors placed from the esophagus down through the intestines, five were not reading.  They called for an X-ray to look at the placement (yay, for more radiation!)  At one point they thought they had it working and let it run for an hour so.  The doctor came back up to check and decided that they were indeed not working.  They needed to send us back down to the OR to have Charlie go back through the procedure again.  The sensors were not set right and they needed to be advanced down through her intestines further.  This would be her second general anesthetic of the day and she hadn't fully woken up from the first one.

They called down to prep the room, called for transport and took us right away.  We got down there and took us back in.  This time I was better prepared to be there when they put her out.  They told me how long it would be until she was unconscious, and then she was out.  This time the recovery room called the second they wheeled her out so we could be there when she opened her eyes.  It made for a much better recovery.  When she woke up they took us back to the room and did another XRAY to confirm everything was in place, which it was.  They then hooked her up to the machines to make sure the sensors were reading.  At this point it was too late to run the tests so we needed to wait to start until today.  It was about 5:00 and she had not had anything to eat or drink since dinner time on Tuesday night.  They decided to start IV fluids to prevent dehydration and run them through the night.  She would only be able to have clear liquids (but only water and juice) so that the tubes and sensors did not get disrupted or displaced again.  

Charlie was rather uncomfortable for the good part of the day yesterday and night last night.  She HATES the tube in her nose and is incredible lethargic.  She never made an attempt to go anywhere, move about her bed, get up, etc..  We sat her up briefly and that was really it.  It was very sad.  Crossing our fingers that today is a better day.  At this point, we are waiting for them to come in and get started for the day.  We will definitely be here for an extra night, which is a bummer on so many levels.  Another night being away from Levi, Judson is now having to miss his most important night of work for the year, and we are emotionally and physically exhausted.  Hoping to be home tomorrow evening! Another update will come soon.

The Last Six Weeks

My goal when initially sitting down and starting this blog was to get everyone up to date on what has been happening with Charlie.  We are so often asked what has been happening, what is new, what are the next steps and how is she doing?  Oftentimes, it is hard to answer without the entire backstory.  Judson and I decided that writing this blog together would be the best way to inform everyone.  Although I began writing a month ago, the story really began when our "fishing expedition" began back in the beginning of April.  We knew then that THIS week was going to be a big week and it was my goal to have the blog up to date by now.  So, this post will be the last to fill everyone in on past events and from here on out it will all be current.  That being said, the last six weeks has been quite the roller coaster.  Something, we have come to find is quite typical when you have a baby with Gastroparesis.

The real problems began when she caught a cold which developed into what the pediatrician believed to be Viral Croup.  Now, ordinarily I would not have thought much about the Croup (granted, certainly not fun...Levi had it and we panicked) but we had been there and done that and knew what to do.  The problem was that Charlie who ordinarily does not want to eat or drink took that to a whole new level now that she did not feel well.  What we found was that we could barely get even the slightest bit of anything down her.  We were lucky to get her to drink three ounces in a 24 hour period.  We were on the verge of going to the ER on several occasions as she was getting dehydrated.  Just as we were making the call she would take a few sips, buying a few hours.  This went on for DAYS!!! The doctor told us that this was a sign of things to come: whenever she gets sick we will always need to be careful.  We also needed to stop the Miralax which threw everything regarding her pooping situation way off track.  The doctor mentioned that a low dose of antibiotics would normally be given to help the situation.  The silver lining to it all was that we didn't have to put her on any antibiotics since she is already on them daily :)

We did, however, make it through and did so with flying colors I might add.  Once she was better she actually began eating like a champ.  Like nothing we had ever seen her do before.  She had been eating two to three times what she would normally eat.  It was quite a severe turnaround.  We got the Miralax up and running and found the right dosage and dare I say, everything was as good as it has ever been.

Two weeks later we went in for our next appointment with Dr. P, the motility specialist at CHLA.  Charlie had gained an entire pound since the last appointment.  I must say that we were in shock!  It was awesome.  She explained that oftentimes after being sick and dehydrated that these little bodies can respond in just this way, putting on this large amount of weight.  She confirmed that the whole "disease" is very much a roller coaster and that it could change and turn at any moment and to not necessarily expect the weight to stay on or the eating habits to stick around for long.

The rest of the appointment was spent discussing our upcoming manometry testing.  This Wednesday, Charlie will be admitted to CHLA for a very specialized motility test.  They will use cameras, sensors, etc. to watch Charlie's stomach and upper parts of her small intestine from the inside.  Our hope is that we will find out more about what is going on.  Is she taking the right medication, dosage, could there be another underlying cause, etc?  They will also repeat the Gastric Emptying Scan as an inpatient, we will meet with a nutritionist and HOPEFULLY leave with a lot more answers.  Unfortunately, Charlie will need to go under another general anesthetic while placing all of the tubes, lines, cameras, etc. which will then run up and out through her nose (yep, should definitely be fun trying to manage that situation.)  To add insult to injury we will need to keep an incredibly active 21 month old little girl as motionless as possible for the duration of this test. This becomes increasingly risky because of the previous bronchospasm.  Our fingers are crossed that this one will be smooth sailing.  If all goes well, our hope is that we will only need to be admitted for two days.  If however, they need to collect additional data or there is another problem that arises that could get extended.  We will be updating everyone on the blog throughout our stay!!!!

Firestorm

One new task that we were given at that last appointment was to document every bit of food that Charlie put into her mouth.  We were also to log every time she went to the bathroom, including the details...definitely a fun job!  This would help us to truly count calories and recognize a pattern between the pooping situation and food intake.  If we did not notice a change we would need to increase the amount of laxatives we were giving her.  We were leaving shortly to head out to Idaho and her appetite had never really "returned."

While in Idaho her appetite continued to deteriorate.  She ate so little we found ourselves in the pharmacy for the first time needing to buy Pediasure to supplement and ensure that she was getting SOME calories each day.  We also decided it was time to increase her laxatives.  As many of you have heard by now our trip coincided with the wildfires in Sun Valley.  Not only did the fires burn to within yards of the house but we were there with the kids.  After a long night of evacuations and drama we found ourselves in a diner for breakfast awaiting our flight home.  Charlie SCARFED down an entire pancake.  Everyone at the table had their mouths on the floor.  It was like she couldn't eat fast enough.  And then, within moments of finishing she started hitting her stomaching and yelling "OW, OW!"  Well, we did it!  We let her overeat.  A portion that any toddler would have no problem with was incredibly painful, and for the first time she was verbalizing the pain she was feeling.  We tried to get home on a flight that day but due to the fires and smoke we had to drive....For 15+ hours!!!!! Charlie was still sick and in pain and wouldn't eat, we ran out of her medicine because we should have been home and the poor thing moaned the entire drive.  Poor baby!!!

After getting home, it was time to call the doctor.  We were not seeing the desired results from the Miralax.  She wasn't eating and we were getting nervous about her overall caloric intake and what her output "looked like."  They called back and ordered an abdominal X-ray to be performed at the next appointment.

We took her in and they performed the X-ray.  It was incredibly sad.  Charlie is beginning to dread the entrance to the hospital.  She knows what a person in a white coat means and is fighting back when we need to strap her down.  Every wiggle means more radiation.  The X-ray ended up providing loads of information, however.

They found that on twice the normal daily dose of Miralax her bowels are still completely backed up.  They needed to once again change her dosage for the following month.  She was able to gain back the weight she had lost the previous month but nothing more.  The doctor was very impressed, if I don't say so myself, with my excel spreadsheets and would be sharing them with the nutritionist who she also wanted us to meet with.  There was definitely a correlation between her caloric intake and her output.  For the first time the possible need for a feeding tube was brought up.  Charlie has gained no weight over all in over three months and if we can not get her to gain several pounds by the end of spring then we are looking at a feeding tube.  Just having to have that conversation was rather difficult.

From this point we left awaiting the call to schedule her third gastric emptying scan and the manometry testing.  I was to keep at my excel spreadsheets and work hard at making sure that the pooping situation was controlled and consistent (hard work for sure.)  September was upon us, we were back to work and to school and life was moving ahead quickly....

July kicked our butts!

We now had a plan for Charlie.  Her 18 month check up was in the next few days and we were able to update Dr. M on what happened at Children's Hospital.  Besides these issues everything else looked good.  She got her shots and we were on our way.  He told us that she may possibly have a fever in the next few days as a result of the vaccines, etc. but nothing to worry about.  The following week we were headed to Georgia to visit Judson's family.  Two days before leaving she developed a decent fever.  She seemed as though she wasn't feeling 100% but there were no real symptoms.  We chalked it up to the shots and were not entirely concerned.  The fever broke and she appeared fine.  We had a playdate before we left and I saved packing until the last possible second.  With laundry and kids being awake I just never got to it.  If you know me, you know this is so unlike me!  I woke up the morning of our flight and went in to get her up.  I was limited on time, Judson was at work, I still needed to pack for the kids, do dishes, laundry, take care of all the stuff for the dogs, etc.  I walked in her room to find her covered in the craziest rash you have ever seen.  Would they even let me fly with her?  I called the doctor's office to see what we should do.  They paged him and we waited.  I finally called back and they said that we could be seen in a half hour.  Funny, because we live in the valley and the office is in Santa Monica.  It was 9:00 and I needed to get two kids who were in PJs out the door, in the car and to Santa Monica in morning rush hour on the 405 in 30 minutes.  If I didn't make it I would have to wait over an hour for his next opening and risk not making it back here in enough time to meet Judson to make it to the airport for our flight.  I think the traffic Gods were with me that morning.  I bribed Levi, got the kids in the car and made it.  My mom happened to be in Santa Monica and she met me in the parking lot and helped me unload the kids.  We ran in and made it just in time.

He tested her for all kinds of things and then looked at her chart and did the math.  She was having a rare reaction to the MMR shot.  The shot was a measles like rash.  Nothing contagious or harmful just uncomfortable for her.  Because her immune system is a bit more compromised from the gastroparesis she was more prone to this.  We ran home, I threw clothes in suitcases and we took off.  We made it to the airport and then became THAT family on the plane.  Charlie was out of control, screaming the entire flight.  It was our own personal hell!

She was out of sorts for several days, not eating, drinking, etc.  When the rash was finally gone the gastroparesis symptoms where there in full force.  One thing we have found is that they really come in waves.  This was a particularly bad stretch for her.  We had a hard time managing everything while on vacation.  Judson's sister who is in college was our superhero.  She dealt with more than any 21 year old should.  In the matter of 24 hours she was thrown up on and pooped on and she took it like a champ.  Super Aunt for sure!!!

By the time we had made it back to LA Charlie had a pretty difficulty month and it was time to see the doctor again.  She had lost a half pound over the course of the month.  Not good by any means, actually rather concerning to us AND the doctor.  The miralax was difficult to manage and we were not getting the desired results. At this point we were going backwards.  The eating was awful, weight gain was negative and colon function was clearly very poor.  The doctor was going to be ordering some new tests to look in to this.  One of which we had done before (twice before), the Gastric Emptying Scan.  She wants to see what the change is once we have her on the right dose of the Miralax and the second will require a hospital stay.  It is a more invasive test that will take a larger more in depth look at what is going on inside (more to come on that.)

We left that appointment (in the beginning of August) feeling like we are now back to amping things up again.  Our quiet and calm times were over, back to frequent appointments and visits, tests, and now a hospital stay in the near future.

CHLA

July rolled around and I have to admit we were super excited for our appointment.  Kind of nervous to find out if we were actually barking up the right tree, doing the right things or was this all a bunch of hoopla for nothing and that she was actually fine.  We left plenty of time to get down there and met my cousin in the cafeteria for lunch.  He walked us up the the GI department and as we signed in they called us back.  They weighed Charlie, measured her, etc. and then took us back to our room.  Not a shock, but she still was not gaining weight.  The doctor came back virtually instantly.  Let's just say Charlie was not on her best behavior that day.  Lots of screaming and wiggling and paper ripping ensued.

We were able to go over the entire story.  Everything from birth until then.  Of course, we had all of the records from St. Johns but nothing from UCLA was ever sent even though we had requested them twice and even called to check on them.  We were able to tell her the results we knew and understood.  We talked about what we noticed, symptoms, etc.

She then mentioned something we had never heard before which was that oftentimes people who suffer from one type of motility disorder have problems with other functions.  Therefore, it would be likely that Charlie is actually having problems with her intestines and colon as well as her stomach.  We focused largely on her colon function at this appointment.  She explained that if the colon is not working properly and emptying as it should it can not send the proper signals to the stomach to empty starting a vicious cycle.  This only leads to increased slowing and delayed emptying.  If we could manage her colon function it could potentially increase the amount of food that could leave her stomach.  So, we needed to fix some of the issues in her colon, which at this appointment we learned were actually issues, something we did not previously realize.  We were to put her on an adult dosage of Miralax and monitor her closely.  We would be reordering all records from UCLA and meet back in a month to go over the progress we had made while on the Miralax.  Dr. P made no hesitation in completely agreeing with the other doctors.  Charlie DEFINTELY has gastroparesis.  We left feeling anxious, relieved and definitely overwhelmed.  The diagnoses was finally confirmed by someone who knows what they are doing.

We finally feel like we are in the right hands and with one of the few experts in this field.  Someone who could actually explain what is happening.  At the same time she had to tell us that this is incredibly rare, there is not much information out there about it, etc.  We don't know what life will be like for her.  Will it ebb and flow, get better, worse, etc.?  At that point,
we had a plan of action for the short term and were looking forward to an upcoming trip and hopefully some results from the new meds.