Waiting for our ‘miracle from heaven’

**I wanted to share this very detailed story about Avery’s most recent journey so that people can fully appreciate the struggle to find a diagnosis and to understand that when you are dealing with a rare disorder it can take years to find answers and the medical trauma these kids are subjected to while in that search can take their toll on their physical and emotional well-being and on the entire family as a whole.**

I remember the first time I heard about the book “Miracles from Heaven” being referenced in regards to Avery’s health issues. It was a print out of an email sent from my Aunt to my mom and it now serves as a bookmark in my well-worn copy of that book. For those of you who haven’t seen it (I encourage you to!) it is about a very sick little girl with two rare, life-threatening and incurable GI motility disorders who falls down the shaft of a tree, hits her head and is miraculously cured. What a different meaning it has for me today than it did more than a year ago when I first read it. At the time (and still to this day) my mom would email me articles for ideas of what she thought Avery could have, and so when she told me that her and my dad had recently watched the movie “Miracles from Heaven” and it reminded her a lot of Avery I took it with a grain of salt. It wasn’t until a month or two later when my little sister called me up and told me how similar the whole story was to Avery’s that I finally went out and bought a copy of the book. While there were a lot of similarities in the book, I had never even heard of the conditions that the little girl Annabel suffered from: antral hypomotility disorder and chronic intestinal pseudo-obstruction. At that point I was still under the impression that Avery was simply just on the severe end of GI problems that are seen in kids with RSS. I posted pictures of Avery’s grossly distended abdomen on the RSS facebook pages in hopes that others would reassure me that this was a symptom related to her RSS. That was the first time that someone from outside the family suggested finding a motility specialist.

As we entered September 2016 things went downhill fast with Avery. Her pain became a daily problem and the distention was growing worse by the week. I was scared for her and didn’t really know what to think, but my family kept bringing up the girl from “Miracles from Heaven.” They suggested we see the movie version of the book to really “see” how similar our stories are. Joe and I decided to bite the bullet and rent the movie. We made it 15 minutes into the movie with me having 3 break-downs before we decided it was too much for us. When a movie is made based on a book, I am usually always in favor of the book. This was different. Maybe my subconscious mind created a more benign version of the story in the book and I sort of convinced myself that this didn’t really seem like Avery. But seeing it on the screen, there was no denying how closely it matched our lives. As the fall went on and Avery got worse I finally managed the courage to buy my own copy of the movie and steeled myself to watch it all the way through. That was a painful, but powerful night for me. The markedly distended belly, the pain, the NG-tube placement, the fighting doctor after doctor to get a diagnosis and help for your kid, the little girl sitting on the sidelines watching her classmates run and play, the clothes not fitting, the struggle with religion, it was my life on display for me to see right there in front of me. I was convinced.

That is when I started my quest to get Avery into the new motility clinic in Chicago. I researched all I could about motility disorders and while I didn’t think she suffered from the same debilitating conditions as the girl from the book, I firmly believed it was some sort of issue with her GI motility. After undergoing more tests at RUSH from November to January this year and receiving no real answers I began to reach out to well-known motility clinics in the US: Milwaukee Children’s Hospital, Nationwide Children’s Hospital in Ohio and as far as Boston Children’s Hospital. The waiting list and the process to get in seemed as long and challenging as Lurie Children’s and it was an incredibly frustrating and helpless feeling not being able to get help for my child. After finally getting that call to set up an appointment with Lurie Children’s in February of this year, we were thrilled and I began getting her medical records organized in anticipation. While I was arranging her most recent tests, one line, hidden somewhere in the middle of an MRI report, stood out to me. It stated that her ascending and transverse colon were redundant and severely dilated and her descending and sigmoid colon were collapsed. Collapsed? That didn’t sound good. A quick search on the internet and I found an article that described both this report and Avery’s symptoms exactly. The name of the condition was chronic colonic pseudo obstruction. I immediately knew in my gut that this was it. Through all of the other disorders that had been brought up and tested for I was never convinced that they were on the right track even if the symptoms “fit” exactly. This time, however, I just had this feeling about it.

They say on average that it takes 8 years from the onset of symptoms to receive a diagnosis of pseudo-obstruction and I can see why. The symptoms can be attributed to so many other, more common GI diseases and most of the tests used in the diagnosis of disorders of the GI tract will come back normal with pseudo-obstruction motility disorder. Avery had undergone so many tests related to her pain and distention that all came back negative: countless blood tests, too many abdominal x-rays (which did show markedly dilated loops of bowel with air-fluid levels, but no actual obstruction), two separate esophagogastroduodenoscopies (EGDs), a colonoscopy, a gastric emptying study, three different abdominal ultrasounds, an MRI of the abdomen and pelvis, biopsies of the esophagus, stomach, small and large intestines, a 4-hour hydrogen-breath test to rule out small intestinal bacterial overgrowth, and a partridge in a pear tree. Whoever thought that a negative test result would upset a parent, but each one was like a punch in the stomach. What that meant to me was more guessing, more testing, more suffering while we try one thing after the next, no name or diagnosis to research and find answers for our questions and support from other afflicted families.

During our first visit with the new motility doctor, however, things began to change. He initially ordered three tests I had never heard of: a sitz marker study, a contrast enema study, and anorectal manometry. The first two came back abnormal, we were getting somewhere. Although in the world of motility clinics things were moving at a relatively fast pace in regards to testing and getting results, it was impossible to watch Avery still in so much pain. The more frustrating part was that whenever we called to ask what else can we do while we wait to help ease her pain we were advised to give her more laxatives or an enema. Our biggest complaint with that is that most abdominal imaging of Avery shows markedly large amounts of gas in the intestines, not stool, so they were still assuming the pain and distention were coming from constipation.

My tipping point was on March 16 when we called once again to ask for something for her pain or a way to provide some relief. I told her how bad her pain had been, how she was having trouble in the evenings with her breathing being more shallow because she was so distended she couldn’t further expand her chest, how she literally just laid around and cried after dinner, and how it was impacting the entire family in a serious way. I thought she finally heard me. Then I received a call back a few hours later and her response from the doctors was to split her dose of Miralax from 17 grams once daily to 8.5 grams twice daily. Ummm…what?!? We were enraged! We took her to Lurie Children’s ER that evening and they were all concerned..until they learned that her abdomen was always that distended. The triage nurse showed concern but as soon as we got back to a room the first person to greet us was a younger-looking, dark-haired doctor who immediately said “sorry, there’s nothing we can do here for her.” (Another parallel to the movie if you remember the part where Jennifer Garner loses her shit on a young ER doctor when he flippantly dismisses her concerns). He said that looking at her chart she was too far beyond the scope of what they do in the ER and that she just needed to keep following up with the motility specialists. We asked about a way to relieve the pain or release some of the air that was causing her abdominal swelling. He restated that there was no such procedure and that he was an emergency medicine physician so this was not his specialty. The utter feeling of hopelessness was one I had literally never experienced to this degree. I guess I had always assumed that if things got too bad we could take her to an ER and they could help temporarily give her some relief. Now that hope was dashed. We literally had no place to go from there. A few more doctors came in to see her and were much more professional about things and ordered an x-ray just to rule out an obstruction. After seeing how dilated her bowels were they sent in a surgeon to talk to us and she seemed somber as she said that she had seen a few adult patients with this before and that she was sorry because it is a tough thing to treat because there is no cure and she sees how they just suffer from the pain. Gee, thanks. Then she told us to follow up with the surgical department to set up an appointment, and when we asked why she very simply said, “oh, she’s probably going to need her colon removed.” We couldn’t get out of there fast enough.

When Avery was in so much pain a few days later that she couldn’t even stand up long enough to help make her birthday cake, something she had been talking about and planning since February, I knew I needed to get loud with these doctors. I called the day after her birthday and told them how she didn’t open her birthday gifts and barely even lifted her head off my lap to see what her sister was unwrapping for her. That was how she spent her 5th birthday. I told them how we took her to the ER and no one was helping us. Things started moving much faster and they squeezed us in the next day to go over results and teach us a method of relieving intestinal gas using a rectal catheter 3 times per day at home. They also scheduled her for an antroduodenal and colonic manometry study for the following week.

During the 3 days of that hospital stay, Avery had an NG tube placed to run an adult sized bowel prep through her which is always traumatic for us all. Later that day she yanked it out while fighting the people trying to get an IV in her and I watched as she had to have it threaded down her nose and throat again while she gagged and coughed and choked. She had to go to the OR early the next morning to place the catheters for the manometry studies and by midnight when she still hadn’t had a single bowel movement we began what eventually became 4 separate trips to the procedure room at 12am, 2am, 4am, and 6am for rectal irrigations that lasted 20-30 minutes each time and were so painful for her that she screamed the entire time, every time. It was horrific and I think that is the point when I went numb and really haven’t started “feeling” things since. I am still having flashbacks to that night. The next day she came out of the OR with an even larger NG catheter and a large rectal catheter that remained there until the following afternoon. She was only allowed to eat and drink for 30 minutes once throughout the 36 hours of the test (that after having been on a clear liquid diet the day before) and couldn’t leave or even move around in the bed the entire time. At one point she had a reaction to something (they think anesthesia, but that was her 9th time under general anesthesia and she had never had a problem with it before), and she got really red and hot and swollen. She ended up being fine after a couple hours but it was a very challenging few days.

This whole story leads us to what we had been fighting to find for the better part of 3 years: a diagnosis! The results of the manometry studies showed that Avery has something called (you guessed it…no actually, I did!) chronic intestinal pseudo-obstruction of her entire colon. He said the part of her small intestines that they were able to test didn’t show a pseudo-obstructive pattern yet, but that the contractions were weak and disorganized. Thankfully, her stomach is still functioning normally. My biggest fear going into the hospital for that test was that it would be normal and we would be back to square one, and, to be honest, there really wasn’t any other motility testing beyond that point. There was so much riding on this that when the doctor finally confirmed that this was her diagnosis I felt a flood of relief. It wasn’t until a little later that it all started to sink in and the realization hit me that this diagnosis is chronic, progressive, incurable and without many treatment options. Hearing the only treatment option that is available to Avery is the reason why I have started this blog, and I am still struggling to come to terms with it myself and to find my voice so that I can advocate for Avery and begin to educate and inspire others to learn about this new way of life for her. It is taking me time, but I will get there.