Glut 1 Deficiency - Could it be? Part 5

We went on working with our naturopath, early intervention services, and developing a home therapy program for Liam, intervening in any way we could. We hired a young woman named Katie, who was one of Liam’s day care providers, to be a “nannypist,” someone who would act as both a nanny and a therapist. Katie proved to be a wonderful addition to our lives. She was so dedicated to Liam. She read all of the books that I suggested and was just as driven to learn about autism and help Liam as I was. She was one of the only people in my life that I could really talk “on par” with about Liam, for she really understood what and why we were doing what we were doing. I trusted her implicitly and Liam adored her. We hired an ABA consultant who helped us develop an ABA home program. I began to work part time and Katie watched Liam and worked with him on the days that I was at work. Katie and I developed an eclectic program that we rotated throughout the day, including various interventions such as ABA, Floortime, and sensory integration. Most of our programming was pretty grass roots with Katie and I reading about how to do these therapies and just diving in, doing the best that we could. We couldn’t afford much in the way of consultation and, at the time, only had twice monthly meetings with our ABA consultant. I know that, should we have been able to afford more guidance and should I have understood Liam’s needs and the difference between all of these various interventions, our program could have been much stronger and more effective. Hindsight is always 20/20 and I know that. Despite this, I felt good about what we were doing and Liam definitely benefited.

Katie had some long days with Liam and we decided to enroll him in a gymnastics class and began taking him to the pool and the park to break up the day and allow them to get out of the house. One day I came home to find Katie feeling a little blue. “It’s just so hard to see Liam with all of these other little kids and to realize all of the things they can do compared to him” Katie said through tears. It was hard to hear these words from her – feelings and thoughts that I lived with, spoken out loud. It was hard for me to comfort her because I was fighting hard to conceal my deepest feelings about Liam. I still felt that in some way if I spoke these feelings out loud I was somehow betraying him. In that moment I also felt closeness to Katie that I don’t think I felt with anyone else in my life at that time; someone who loved Liam like a mother, someone who felt and was willing to speak about the pain I lived with each day. Katie and I also shared some joyous moments that I don’t think anyone but us could have really understood. We both knew Liam intimately. We knew things about him that no one else could possibly know. When Liam was about three years of age I pushed his early intervention team to evaluate him for Apraxia, a motor-based speech disorder. I had done a lot of reading about Apraxia and felt that Liam demonstrated many of the symptoms. In particular, Liam really couldn’t repeat anything we said. He would try, his mouth would move but nothing or the wrong thing would come out. He was really much better at self-generated speech. At times, words and sometimes whole phrases would pop out of his little mouth. I was stunned one day to hear this little child say, “dive da cah” as he pushed a little car around. This from a child who never even said mama or dada had just said a whole phrase that was appropriate to what he was doing. We never heard that phrase again. I tried to get it out of him, but nothing. On another occasion, Liam said, “More bubbles” when Katie was blowing bubbles with him. We stood and looked at one another shocked. We were working on him saying “buh.” Just as before though, we couldn’t get him to do it again. In fact, it would be many years before I would hear Liam actually put two words together. Katie and I shared these little victories together as well as the pain of not being able to get there again with Liam. Other symptoms of Apraxia that Liam showed were not having a consistent word for something. For example, for the word “open” Liam would sometimes say “Oh,” other times it would be “Oh-pah,” and yet at other times it would be “Oh-pah-pah.” It was maddening. He also dropped the endings of words and could not say a lot of vowel sounds. He couldn’t stick his tongue out in imitation or move his mouth, or any part of his body for that matter, on command. So on this day when Liam was three, Katie and I were there for his long awaited Apraxia evaluation. In my inexperience and naiveté I thought that if Liam were deemed Apraxic we would somehow get some type of speech therapy that would change the struggle we were in to help him learn to talk. I had mixed emotions about this evaluation. I hadn’t been too impressed with the speech therapists that had been working with Liam largely because he wasn’t making any progress and they didn’t seem to have an explanation for this or a plan. Some of them could not even get him to cooperate and participate in the session. I was desperate to help him develop verbal communication and I was angry, maybe unfairly at times, that no one seemed to have a strategy or plan for how we were going to get Liam talking. To my elation, the speech therapist that came to do this evaluation was amazing. She got Liam to sit in a chair, imitate her, and move his tongue. He made more speech sounds in that hour than I think I had heard come out of him over the past month. She also got him to lick a dumb-dumb sucker. Now if you can imagine two grown women (Katie and I) clutching one another, holding our breath while watching all of this. We were both thinking “oh there is no way Liam is going to lick that sucker.” Liam wouldn’t touch candy and believe me I had tried to get him to lick a sucker. I was thinking, “This woman doesn’t know what she’s up against with Liam. Most kids will work for a sucker but not this one.” To our great surprise there he was LOVING this sucker and working hard to move his tongue up, down, side to side, in and out. Katie and I were quietly jumping up and down cheering “Oh my gosh! I can’t believe he’s doing it! Way to go Liam.” We didn’t want to distract him and end this magical moment, but we were bursting inside. We were in total awe of this woman and what she had accomplished with Liam on that day. We were celebrating Liam big time and my belief that he could learn to talk was reaffirmed. We just needed the right therapist and the right therapy. I can honestly say that Katie is one of the few people in my life that I have shared this kind of simple, somewhat strange, joy with. It truly takes a special person and unusual circumstances to get that excited about a child eating a sucker.
Liam was tentatively diagnosed with Apraxia from this evaluation, but it really didn’t change anything about his actual speech therapy. I fought the school system and paraded him around to one private speech therapist after another until finally giving up and home schooling him at age 5 under the guidance of Emily, an amazing savior who brought Verbal Behavior into our lives, which was the first intervention that really worked for Liam’s speech development and gave him his voice.

Katie stayed with us until Liam was 3 ½. She left with her husband to travel around South America and then spent the next several years teaching English in China. As the days approached before her departure, I tried hard not to think about life without her. I couldn’t comprehend losing this person, she had at times been my life line, my confidant, my supporter and someone I trusted to carry out my almost fanatical desire to help him when I could not be there myself. When she left I suffered a blow. I felt like I had lost my right arm. I was lonely and felt isolated. I missed her deeply. How could I do this without her? Liam had lost his friend. What was he thinking about where this special friend had gone? After two weeks of crying and feeling sorry for myself, I dusted myself off and got back to work. Liam needed me to be strong and we would survive. We were off to new adventures, new special people that would grace our lives with their presence and bring new gifts in ways that I could not have anticipated.

Throughout these early years I felt that I was running a race against autism with the prize being Liam’s soul. I knew that I could be a fierce opponent if I set my mind to it … but there was one little problem. I was a mere mortal who got weary from time to time and needed to sleep and eat and work. Autism was a savage beast that needed no rest. I found it hard to rest. I stayed up reading until 2 am every night, researched by Google during the day whenever I had a free moment, and spent endless hours trying to play with Liam on the floor. I felt that I had to make up for the hours that I slept or took a shower or ate, otherwise Autism would win I would lose my child forever. There was no way I was going to let that happen, not to my baby. When I was home, no matter what I was doing, I was constantly observing Liam. If he began to engage in self-stimulatory behavior such as spinning a bowl, opening a door or drawer repetitively, or sticking his fingers in a register vent for all of eternity, I would get down on the floor and join him. There we would sit, Mommy and Liam side by side in the kitchen opening and closing drawers together. At some point Liam would notice me or my drawer and would briefly shift his attention to what I was doing. A connection! There it was. He noticed me. I would smile and tickle him “yeah little one, here I am buddy. It’s mommy.” Now that I had his attention, what could I do to keep it going, to make what I bring to the drawer more interesting? I would begin to open and close my drawer faster and faster, making silly sound effects. Sometimes he would ignore me and go back to opening and closing his drawer, but other times he would imitate me or just giggle and watch. The best times of all were when he would look up at me and smile so as to say “hi!” In those moments I felt like I was on top of the world. Liam was playing with ME! This was our version of patty-cake, albeit a little unorthodox, but we were interacting; I was playing with my distant little child. I viewed what I was doing as changing the way his brain was getting wired. I felt that I needed to get in there and make these activities social, interactive and to not let any opportunity go by if I was going to be successful at wiring his brain to be interested in the outside world. I knew that his behavior held some meaning to him (at the time I didn’t quite know what that meaning was) but I felt that if I didn’t intervene, it would never hold a meaning that he could share with others. It was hard for me to relax, socialize, to think about anything else. Time was of the essence and if I slacked off autism would pull ahead and I could lose him forever. That was not going to happen on my watch.

I was feeling optimistic. These interventions seemed to be working. Liam was beginning to comprehend some words and simple directions. He knew his name. He was starting to use some gestures to communicate. He was eating and growing better than he had been during his first year of life. There was still something that bothered me that stayed in the pit of my stomach and yearned for an answer. What had happened to my child? It seemed like all of the medical problems, “anomalies” if you will, could not truly be separate, unrelated conditions. I had never met another child with autism that had trigonocephaly and failure to thrive and strabismus. Many children on the spectrum had intestinal problems, ear infections, and seemingly weak immune systems. Those things seemed to be common, but Liam’s constellations of medical problems seemed unique to him. I had this deep intuition that Liam’s problems were related, that they added up to some known medical condition, and if we could just find out what it was, maybe, just maybe we could help him even more. Maybe we could save him. One day at work I had some free time and punched into Google “trigonocephaly and autism.” To my shock and horror up popped some hits. “Mild Trigonocephaly: Is it an Autistic Head Shape?” and “Trignoncephaly Associated with Symptoms.” There were a handful of articles on pubmed, a reputable site for medical journal articles. I was only able to read the abstracts as I didn’t have access to the full articles, but these abstracts described other children with mild trignocephaly who had language delays, motor problems, hypotonia, strabismus, hyperactivite, behavior problems, cognitive deficits, autistic features, and on and on. While they didn’t reference anything about failure to thrive or diarrhea, they otherwise described what we were experiencing with Liam developmentally. The articles described this head shape as a subset of autism and stated that there were known genetic defects responsible for this head shape. I felt sick. I couldn’t breath. I sat there motionless, in disbelief. I read the absracts over and over. My heart sank. Tears were coming and I couldn’t stop them. How could this be? We saw the geneticist and the neurosurgeon. We got the CAT scan. We were told, “mild forms of trigonocephaly were not known to be associated with developmental delays” that Liam’s development was not a result of this head shape. Here I was reading the exact opposite. There were other children just like Liam who also had mild trigonocephaly. Once again I could not understand how I, a mere first time mother, could find this information and no one else seemed to know about it. Once again I was mad at myself for not plugging both trigonocephaly and autism into Google earlier. How stupid could I be!

A Japanese doctor who began investigating children with autistic features, developmental delay and mild forms of trigonocephaly first published the articles in Japanese. This doctor had done spect scans to look at the blood flow in affected children’s brains and found reduced blood flow to the frontal lobes. He also did skull x-rays that showed raised intracranial pressure due to the narrowing of the forehead which puts pressure on the brain. He had performed surgery to release the closed suture in a handful of kids and these kids were showing some improvements. Liam was already two years of age at this time. Was it too late for him? Should he have this surgery? Would I want to put him through that? How could I not? I was overwhelmed with emotion. I quickly printed off all of the abstracts and drafted a quick letter urging his pediatrician to help us explore this issue. I faxed it that same day to every doctor we had ever seen. Our pediatrician did respond saying that it was “interesting” and “if we wanted he could refer us back to the neurosurgeon.” Hell yes we are going back to the neurosurgeon! I want an appointment ASAP! We got in quickly but the neurosurgeon said that this was new information to him, that “things are different in Japan.” He could repeat the CAT scan and we could see a different neurosurgeon in the craniofacial disorders clinic to follow-up because he was no longer going to be seeing craniofacial patients. He maintained that he would not operate on Liam. I don’t really remember what all he was saying because I was still feeling numb and uncertain of what I was wanting. What I heard was “blah, blah, blah, can’t help you. Blah, blah, blah, not interested.” We were on to a second opinion. I was not too interested in seeing another neurosurgeon in the same practice. What was the likelihood that this person would go against the first neurosurgeons recommendations, or lack there of? We were going to find someone from some other clinic and get his or her opinion.

We traveled to Seattle a few months later to see a reportedly well-known craniofacial specialist at Seattle Children’s Hospital to gain a second opinion. In advance I had sent him Liam’s medical records, the journal abstracts from pub med, and Liam’s CAT scan films. I waited in anticipation for this appointment, partly nervous that it would end like all the others, partly excited that this could be a turning point for Liam and for us. My hopes were once again dashed as he too said, “blah blah blah, can’t help you. Blah, blah, blah, not interested.” Again I don’t really remember what all he said, other than something about it being interesting, not his experience, and that there are no long term studies on the outcome of operating on a child with mild trigonocephaly and developmental problems to determine if the potential benefit outweighed the risk. We went home somewhat deflated, but somewhat relieved because it would be hard to decide to put Liam through such an invasive surgery. I was still mad, mostly at the situation. I knew that Liam’s trigonocephaly was related to his problems. In my mind there was no way it could not be related. It just pissed me off to realize that there was nothing I cold do about it, no clear path, and no previously charted course. I dropped it for the time being and went back to focusing on the things I felt I could do, the things that seemed to be working.

To be continued.