From the beginning

We are so fortunate to have so many friends and family who have supported and followed us through all of Avery’s health issues. With all the recent medical interventions she has had lately and with big decisions coming up I thought it was time to have a place that I can dedicate to keeping you all up-to-date as well as a way to express and release all the feelings I have about the years of watching her, and my whole family, suffer.

This is Avery’s story:

Avery was born on time as a seemingly healthy newborn. Around 6 weeks old she began to experience trouble nursing and reflux. While medication helped the symptoms of her reflux, the coordination of breathing and eating got worse with time and by the time she was 9 months old she had undergone two surgeries to remove her adenoids and a blockage in her nasal cavity followed by a sub-total tonsillectomy with removal of a granuloma that had formed as a result of her first surgery. At this point her coordination of eating and breathing was finally resolved but instead of seeing her really begin to thrive she actually kept dropping farther and farther down the growth charts.

The doctors became concerned at around 18 months when she began to drop a pound here and a few ounces there. She was experiencing other weird things like episodes where her lips and mouth area would turn blue for hours at a time, extreme fatigue and lack of wanting to participate in normal childhood activities (I remember her 2nd Christmas laying on my lap instead of opening gifts) and the day after her 2nd birthday she experienced a frightening episode which was her first seizure. Within the next year we were sent on a wild goose chase around the children’s hospitals of Chicago being bounced from one specialist to another and having test after test to figure out exactly why she was “failing to thrive” and the cause of her other symptoms. In that year, we saw a cardiologist, gastroenterologist, neurologist and endocrinologist at Hope Childrens. When that didn’t turn up anything, we saw a second GI out of Lurie Children’s, which was an absolutely awful experience, followed by a 3rd GI who was at Loyola. He is the one who suggested a geneticist because he thought we should look at her body as a whole as opposed to each of these specialists trying to look at their own specific area of expertise. He was right on the money and, although he was never able to help Avery with her GI issues, I am forever grateful to him for starting us on that path.

A few months after beginning to see two geneticists out of RUSH, Avery was admitted for a work-up and we finally had an answer and the cause to her growth failure. On November 7, 2014, Avery was diagnosed with Russell-Silver Syndrome (RSS) and was also found to have pituitary hypoplasia on an MRI of her brain. The symptoms Avery experiences related to her RSS are right-sided hemihypotrophy, mild clinodactyly of her pinkies, reflux, constipation, speech delay, a head circumference in the middle on a regular growth chart but both height and weight significantly under the charts, low muscle tone, and delayed bone age. We were so happy for her to be diagnosed because now we had a name to put to this and we began to search for everything we could about the syndrome. We quickly joined the MAGIC Foundation and Facebook support groups for RSS and began seeing a new endocrinologist out of RUSH to begin treatment with growth hormones (GH). We felt like we had a good handle on things and, although we knew there would be challenges for her, most children respond well to GH and can live relatively normal and healthy lives.

Our excitement began to fade when a couple months after getting out of the hospital Avery began to experience very frightening episodes of rectal bleeding. I am still traumatized from the shocking image of watching straight blood streaming out of her bottom and filling the toilet bowl. It would literally take my breath away and a wave of panic would wash over me. It was almost impossible to hide my fear, but with me looking into the toilet and her looking at me, I was forced to smile calmly and reassure her that she was okay not really knowing for sure if she would be. The doctors had no explanations for the bleeding, but we found that if Avery ate high fat foods she would usually have an episode after. For months she would wake up covered in poop and blood at least once a week and then she would go a month without an episode only to have another flare up. The cycle continued for more than a year (to date she hasn’t had any bleeding since November 2016!!). During this time Avery was failing to gain weight and she barely grew in height. She was on nightly growth hormone injections for a year with literally no growth. Her endocrinologist decided to take her off the injections until we could get her GI problems resolved.

Having been given a diagnosis for her small stature, we began to focus more on the growing distention of her abdomen. While we had always noticed it, it began to grow larger and she began experience abdominal pain a couple days per week. We saw a 4th GI doctor who literally “wrote the book” (okay, maybe just the GI chapter) on GI issues in kids with RSS. We spent the good part of 2016 with this specialist trying different medications, herbs, supplements, diet changes. This kid was take off of gluten, dairy, corn (this was by far the hardest one, go check the labels and see how much of your food contains corn starch or corn derivatives!), nuts, shellfish, and soy for more than 6 months with no improvement at all. In fact, she was quickly getting worse.

Around September of 2016, Avery began to experience severe abdominal pain and distention every day. The pain and distention would get worse throughout the day to the point that at least 5 out of 7 days a week she was crying out and doubled over in pain. There was nothing we could do to help the pain. Most nights she was (and still is) laid up on the couch with a heat pack on her stomach asking to go to bed, just wanting the day to be over. When we spoke to her GI doctor with our concerns over the increasing frequency of both the pain and distention he suggested some herbal supplement. Clearly he was not understanding the extent of her pain. So we had been hearing about a new motility clinic that had recently opened at Lurie Children’s that was being led by a very well-known doctor who had a lot of experience treating children with complex GI motility disorders. We had explored every route related to GI issues except for motility because it is such a rare and not well-studied area of medicine and until last summer there was no one in the Chicago-land area that specialized in motility disorders.

We called to request an appointment in September of last year and it was like I was requesting to get Avery into an Ivy League college the way they responded to my request. She had been to Lurie Children’s several times before to see an orthopedic doctor for her leg length discrepancy, have surgery to repair an inguinal hernia that decided to pop out in 2015 just because we were having a quiet time medically-speaking and that just wouldn’t do, and we were even in the GI department already and had sent all the her medical records from all the other hospitals on more than one of those occasions. I could literally write a book on the amount of time and effort, tears and frustration it took to finally get Avery a simple appointment to see this motility specialist, but I think it speaks for itself when you hear that we didn’t get her in until February 14 of this year. Six months may not seem like that long to get in with this specialist who is so well sought after, but it was excruciating to sit by and watch Avery struggle and suffer and to see her already poor quality of life get worse and just take so much of her from us.

While waiting to get in to see what would end up being her 6th (and hopefully last!) GI doctor, we started to see her 5th GI specialist out of RUSH in November 2016. He started running his own battery of tests and by January he, too, started to wave the white flag in defeat. That is when we began to beg this GI doctor to get us into the new motility clinic and why, when I finally got her first appointment with him, which happened to be on Valentine’s Day, I knew he would figure her out. He had to.