Glut 1 Deficiency - Could it be? Part 4

Back on the medical front, Liam continued to struggle with weight gain, frequent illness, strabismus, and now had developed severe diarrhea. He would have diarrhea after anything he ate (which wasn’t much) and it often contained mucous and undigested food. It was foul. It could happen anywhere, anytime and we always had to carry extra clothing with us because it could explode out the top and legs of his diaper, making a huge, disgusting mess. We had switched from seeing the nurse practitioner to the pediatrician who had last consulted on Liam’s ridge at 9 months, as we believed that he recognized the problem and perhaps was more knowledgeable. He was the first doctor to bring up the possibility of Liam having an inborn error of metabolism. This meant that Liam’s body might not be able to properly break down and utilize food, resulting in him not making or absorbing vital nutrients. The doctor ran some tests. He told me they would be looking at Liam’s amino acids. “Amino what’s?” I said. He went on to talk some gobbeldygook about amino acids being proteins that are the building blocks of life. I still had no idea what he meant but was fully supportive of more testing. The results came back not quite normal, but not specifically indicative of any known metabolic disorder. Of course this was the case. Another anomaly. Great.

At meal times, if Liam ate anything, he would often end up staring off into space. Well, not space exactly. It seemed as if he was staring at something very specific, just something that we could not see. He would stare very intently and laugh and laugh. We would hold our hand up in front of his eyes and he would reach up and push our hand out of the way or look around it, staring fixedly at this unknown thing. We used to say, “Liam sees angles.” We thought this was cute. He was so quiet and serious as an older baby and, with this behavior, we tried to find some meaning in it – he was a little Buddha, a spiritual being. After I began my education in autism I came to understand that this behavior was more likely an indication that Liam was hallucinating. It is theorized that some children with autism have an inability to properly digest the proteins in wheat (gluten) and dairy (casein). The proteins are only broken down partially and become similar in chemical structure to morphine. I also learned how chronic infections such as ear infections are common in these same children with autism and that, due to these infections and subsequent overuse of antibiotics, these children develop yeast infections and an overgrowth of bad (not beneficial) bacteria. The antibiotics not only kill off the offending bacteria responsible for the infection, but also the beneficial good bacteria and this results in an imbalance of the gut flora so essential for healthy digestion and overall gut health. The improperly digested proteins in combination with the bacteria and yeast overgrowth can damage the intestinal lining making it porous. A healthy intestinal track only allows certain essential nutrients to enter the blood stream, keeping everything else in the intestines. When the intestines become damaged, things that should not enter the blood stream can leak out. This is known as “leaky gut syndrome.” In the case of improperly digested gluten and casein, as it is similar in structure to morphine which can permeate the blood brain barrier, so too do these proteins, which is why Liam would hallucinate after eating. Reading about this was a shock. This behavior that I found to be cute, spiritual like, was actually a serious problem and something that could be hurting Liam’s brain. It certainly was not helping Liam to connect with the real world or pay attention to things that are relevant. No wonder he could stare at the lines created by repetitively opening and closing doors and drawers with such focus and glee for hours, he was tripping. With Liam’s failure to thrive, extremely limited (almost non-existent) diet, and failing health, we had no qualms about trying the Gluten Free Casein Free (GFCF) diet. I couldn’t implement it fast enough. Within three days of no dairy products, Liam was suddenly free of his respiratory illness. No more coughing, runny nose, elevated temperatures, or ear infections (ear infections did return at age 4 – more on that later). It was amazing. Gluten takes longer (about 3 months) to get out of your system. With the removal of gluten we did see an end to the baby Buddha behavior and he seemed more “with-it.” He has remained GFCF ever since.

We began seeing a naturopathic physician who was well known in the community for utilizing the DAN! Protocol with autistic children. She helped us navigate further treatments for Liam such as vitamin and mineral and fatty acid supplementation, all aimed at restoring the imbalances in his body and helping to repair his damaged gut. We found a super supportive nutritionist who formulated a GFCF formula replacement for Liam that was a combination of fortified rice milk, gluten free rice protein powder, brown rice syrup, and flax oil. We would mix up a big batch of this for Liam every day and to our amazement he would gulp it down. Unbelievable. Liam still wasn’t eating solid food well so we mixed up a big bowl of rice cereal with pureed meat, vegetables, and fruit and threw in all of his supplements (vitamins, minerals, cod liver oil, etc.), gave it a whirl, and fed it to him with a spoon. We called it glop. Liam loved glop. It makes me chuckle to think back to those days and how Gary and I would ask one another “Did you give Liam his glop yet?” We didn’t want to overdose him on supplements by accidentally giving it to him twice. Liam did enjoy gluten free waffles. Gary invented the “waffle pizza” which was ground meats and veggies mixed with dairy free butter substitute and spread on a waffle. If we cut the waffle pizza up in pieces and presented it to Liam “spread” side down, he would eat it without objection. It always seemed strange to me how Liam would eat these things happily but Popsicles, juice, Cheerios, pasta, bananas, candy were responded to as if they were poison. We got really creative over time it became sort of an obsession for me and I spent many hours in the kitchen whipping up various ways to sneak calories into Liam. We were happy to finally have some support and to finally get some nutrition into him. He made it back onto the weight chart, only to the tenth percentile, but he was on it and that was confirmation that we were on the right track.

Solving Liam’s gastrointestinal issues proved to be much more difficult. No matter what we did, Liam would still have explosive diarrhea, often multiple times per day. Changing his diaper was always a major chore and, in retrospect, we should have bought stock in baby wipes because we sure went through them like wildfire. We requested that Liam’s pediatrician test his antibodies to gluten to rule out the possibility of Celiac Disease which can produce the symptoms that Liam was experiencing. I didn’t really feel that Liam had Celiac because the treatment was removing gluten from the diet, which we had already done, and Liam still had major diarrhea. The test results were interesting, but not likely suggestive of Celiac. I won’t get too technical by explaining the difference between IGG and IGA antibodies, but this test showed that Liam’s body was producing sky high IGG antibodies to gluten, which is not normal. His IGA antibodies were low (normal). In Celiac, it is usually the IGA antibodies that are elevated. Nonetheless, we were referred to a gastroenterologist for further evaluation. We were not able to get an appointment with this specialist for six months, so we had to wait. Finally, the big day arrived. We were so hoping to get some help for Liam, some kind of treatment for his diarrhea and poor growth.

This appointment was a major disaster and the beginning of a deepening understanding of the stigma that surrounds children with autism and their parents within the medical community, especially when it comes to the concept that “leaky gut syndrome” and the speculation swirling around childhood immunizations, in particular MMR, may be implicated in this condition. Being unaware of how we might be viewed, I openly shared with her our observations, theories and interventions thus far. In response to our story, her demeanor suggested that she was judging us to be parents who were being “taken” by vulturous charlatans who preyed upon desperate parents seeking help for their un-helpable children by offering unsubstantiated theories and treatment. She didn’t really seem curious about Liam or our experiences. In addition to consistently calling him by the wrong name, referring to him as a “she”, and talking about another patient with one of the nurses in front of us (major HIPPA violation) she had already made up her mind that there was no reason to do any testing and that we should put Liam back on gluten. She did say that if we wanted to test him for Celiac we would need to put him back on gluten for three months and then do a colonoscopy to test for Celiac. She couldn’t really say if she felt there was a chance he did have Celiac (which would be important to know). I did know that I wasn’t about to put Liam back on gluten because he was doing so much better off of it – he was actually eating, had gained some weight, was no longer hallucinating at mealtime. Part of me was a little mad that we weren’t seen in a timelier manner because at the time we were referred to this specialist we had just taken Liam off of gluten. We could have done the test for Celiac at that point rather than risking feeding him gluten again. I didn’t trust this doctors interest in Liam anyway, and I certainly wasn’t going to go back to a gluten containing diet under her suggestion. I may have been more persuaded if I felt that she was interested in Liam’s case and truly wanting to partner with us to help our son. She also bluntly stated “Well, if his height to weight ration gets any worse we’ll have to tube feed him.” “Tube feed him! Why?” I didn’t understand her willingness to stick a tube down his nose but resistance to actually investigating the source of his diarrhea. No way was I going to jump to tube feeding as an intervention, not until all of my efforts to understand what was wrong and remedy the underlying problem had failed. Her final “recommendation” was to enter Liam into her research study for failure to thrive. This study was looking at the hunger center in the brain and how it may or may not be implicated in failure to thrive. She admitted that there would be little or no benefit to Liam himself by being part of this study, but that his contribution may add to medicine’s understanding of failure to thrive. Being part of this study meant hospitalizing Liam 3 times throughout the year for several days. No thank you. I felt that Liam was hungry and that his poor growth and diarrhea was much better explained by the autism literature than something to do with hunger. I certainly wasn’t going to put Liam through any evaluations and separations from home for this woman and her interests. We left, never to return and I’ve never regretted our decision.

To be continued

Diggers And Toast

I wake up at about 5:15 every morning on workdays. I like to capture at least a little morning time to myself, so the trick is to get up before Liam wakes up. It usually doesn’t happen. Liam can be in a deep sleep but he seems to have this extra sense. No matter how quietly I get up and no matter how seemingly dead to the world he is, he springs right up with one thing and one thing only on his mind:

Diggers.

I made the mistake once of showing him some You Tube videos of construction equipment and now it has become an obsession. He can sit and watch diggers, bulldozers, cranes, dump trucks, etc. for as long as we let him. And if we don’t let him, it sounds something like this: “Diggers? Diggers? Diggers? Diggers? I want diggers. Diggers? Diggers? Diggers? Hot dog? I want diggers. Diggers? Diggers? Diggers? Diggers? Diggers? Diggers?”
“Oh, you want diggers.”
“Yeah.”

So when Liam throws this digger mantra at his pre-coffee dad, what starts as an extreme annoyance quickly becomes an opportunity to grab a little “me” time as I pull out the laptop and get him set up with the You Tube diggers. Once he is in front of his diggers with an eager grin on his face I can grab at least one cup of coffee before my day starts.

The other thing that is important for Liam in the morning is that he eats fairly soon after he wakes up. If we wait too long to feed him, even if he doesn’t act hungry, he can get extremely agitated. If he is wanting his diggers he will not eat, but if he is watching his diggers he will gladly eat while he’s watching. I usually make him some gluten free toast (his system can’t tolerate wheat or dairy) with peanut butter and jelly on it. This is how we start the day; Liam watching his diggers eating peanut butter and jelly toast and me slowly waking up with my coffee to the sound of working diggers on You Tube, delighted giggles, and incoherent comments about diggers digging.

As much as this makes for an easier morning, there are a few drawbacks. Liam can’t keep his hands off the computer while he is watching and he just starts pushing buttons that mess up the computer in ways I don’t understand, so I sometimes have to spend some time trying to undo whatever it is he just did while he is screaming “DIGGERS?!” repeatedly in my ear. It is hard to disengage him from the digger videos but usually with a little advanced warning such as “One more and then all done.” We can get on with our day. There is always peanut butter and jelly on my keyboard.

After coffee I can usually grab a quick shower and get ready to walk Chester while Liam is still watching diggers and eating. The next big task is getting Angie up so I can get the dog out the door. She is not a good getter upper. This I don’t understand. I always tell her “It’s like taking off a band aid. Do it quick and painless and once you’re up it’s great.” She clearly does not see the wisdom in my method as she makes the process as slow and painful as possible.

So walking Chester is another way of grabbing a little more of the morning for myself. In the winter it is still dark when I’m out and it is a really weird but strangely satisfying feeling to be out and about at this time.

I get about 30 minutes of dog walking and then I come back to my favorite scene: The computer is off, Angie is on the couch trying to drink coffee with Liam, jelly faced, snuggled up against her giggling softly, putting her hands on his face, and loving every minute of this precious snuggle time with his mommy. It is clear that mommy time far outweighs any draw the diggers may have had just minutes ago. Although Liam will follow me around the house all day wanting to do whatever I’m doing, I do not have the kind of snuggle appeal that Angie has. She can sit still with him and he can sit still with her and they can enjoy each other that way. If it’s Liam and me he always wants to be doing something active with me (if the diggers aren’t on), not sitting still. I don’t mind this for the most part. I like that he sees us differently. It is just more evidence that he is distinctively engaged with the world and understands the different nature of different relationships, whether the relationship is with Mommy, Daddy, Claire, Chester, or diggers.