Glut 1 deficiency-Could it be? Part 1

Liam has had many medical “anomalies,’ little things that aren’t exactly “normal” but don’t quite add up to any identified medical syndrome or problem (not including the broad spectrum of autism). It really started before he was even born. During my 20-week ultrasound it was picked up that he had something called renal pyelectasis. At the time of the ultrasound we were sent home believing that everything seemed normal, “a healthy pregnancy.” A few weeks later while I was at work my OBGYN called asking if we had been told about the “abnormality” on our ultrasound. “Abnormality…no…what do you mean…we were told everything looked good.” My heart sank. I felt sick to my stomach. I couldn’t believe it. She went on to tell me about the renal pyelectasis, which meant something about his kidneys being enlarged and this being a “soft sign” for Down syndrome. I couldn’t breath. How could this be happening? I really had never thought something like this would happen to me, to my baby. I was shook up. We got set up with a neonatologist for a repeat, more sensitive ultrasound. This ultrasound was “normal.” His kidneys were normal size. “Maybe he just had to pee,” they said. “Had to pee! You mean you didn’t think of that before. You didn’t think to tell me of that possibility.” Okay, I had to calm myself. They were being cautious and I appreciated the follow-up and concern. Crisis averted. Move on. Looking back at this first experience of worry about Liam’s well being I wonder if this was a little warm up. An experience to sort of “pave the way” for things to come, to make all of the things that would happen during Liam’s first year of life less of a shock.

The remainder of my pregnancy was “uneventful” as they say. Liam was born three days after his due date a healthy 7lb, 8 oz baby boy. We were elated. He was so beautiful. Ten fingers, ten toes, perfect - no Down syndrome. I did notice this slight raised ridge running from the top of his head straight down his forehead. I wondered, “Is this normal?” No one seemed to be saying anything about it; I must be paranoid. “Stop worrying and enjoy your perfect little boy.” It seemed strange though. I’d never noticed something like that on any other baby’s head. Then I talked myself down again, “baby’s heads are supposed to look funny.” After all, he was just squeezed through a tiny space. Babies’ heads get squished during the birth process. In the hospital I never asked about the ridge. Later on I would wonder why. This was the first of many times that I suspected something wasn’t quite right with Liam, but didn’t ask. I think I don’t ask questions when I’m really not prepared for the answer. After Liam was born, I was so filled with emotion. The feelings of love and protection were so strong. I can’t imagine finding out in that moment that your baby has anything wrong with him, the pain would be unimaginable.

The next day Liam was examined by a pediatrician who gave his stamp of approval, “a healthy little boy.” He didn’t seem to notice the ridge on his forehead either. Again, I didn’t ask. I did note later that on his birth records “mild frontal ridging” was documented. Why didn’t anyone say anything? Did they not know what this was? Was it viewed as no big deal, a meaningless anomaly? I did manage to put it out of my mind for a while, as no one else seemed to notice (or so I thought). But as Liam grew, so did the ridge and it became hard not to notice.

A month or so after Liam was born I started to observe that his skin seemed darker than it had been. It seemed a little yellow. I took him to the doctor and she ran some labs including a liver function test. His bilirubin was normal but his liver enzymes were extremely elevated. I was told that they were equal to that of an alcoholic adult male. “How could that be? What does it mean? He’s just a tiny baby.” I was told that they did not know. “We see this sometimes and it usually resolves. We’ll keep an eye on it and retest in a few months” The reason for his coloring? Breast-milk jaundice. He’d probably have this jaundiced color for some time (turned out to be six months) but it is not dangerous. No correlation to his elevated liver enzymes. At the time I knew nothing about toxic overload or impaired methylation (a major detoxification pathway in our bodies). I didn’t realize that these elevated liver enzymes were possibly a clue that Liam’s body couldn’t efficiently rid itself of toxins and that his liver was likely overloaded. I didn’t know anything about the correlation between impaired detoxification and autism. I didn’t know anything about all of the toxins that exist in our environment, let alone in vaccinations. I didn’t even educate myself. I’m angry with myself every day for the cavalier way I parented Liam – not educating myself on the controversies surrounding such things as vaccinations, fluoride, pesticides, genetically modified organisms and our food supply, etc. I lived in a different world then, one where I was more trusting, less critical…safe.

I started back to work when Liam was about three months old. My plan was to breast feed Liam for at least a full year and to use a breast pump while at work. Unfortunately, I could not produce any milk using this pump. I met with the lactation specialist. She came to our house. I tried visualizing Liam. I looked at pictures of him. Tried to feel him nursing. Nothing. The lactation consultant eventually said “I think you had better start supplementing him with formula.” “Formula! No way. That’s not in my plan!” At the time it felt like I would be poisoning Liam if I gave him formula. It seemed such an irrational thought, after all millions of babies are raised on formula and they do just fine, but I couldn’t shake this fear. I now think of this seeming irrational fear as mother’s intuition and I have learned to listen and trust in my gut feeling. I eventually broke down and bought a can of formula, whipped up a bottle and fed it to him. “There, I did it. He’s fine.” I believed my fear was irrational and Liam would need to eat while I was away from him.

At Liam’s four-month well child check-up the ridge on his forehead started to become something of concern. At the time, Liam was being seen by a pediatric nurse practitioner. She was a kind woman who was attentive and caring. She began poking and pushing, and measuring the ridge “Hmmm…it doesn’t feel like bone.” She brought in a pediatrician from the office to consult. Together they poked and prodded and commented to one another, clearly not sure what it was. They sent us to have it ultrasound. “Seems like soft tissue. Probably nothing to worry about, let’s monitor it and see if it changes over time.” And we did, every check up, another doctor would be called in to consult but still no answer.

After his four-month check-up my worry about his head was coming back. I started examining the paperwork we were sent home with that detailed his check-up. I noticed that Liam had dropped from the 50th percentile to the 10th percentile in weight from his last appointment. I called the nurse practitioner.
“Did you notice his weight? Is that okay?”
“He seems healthy and is developing well. He’s probably just settling out to where he will be. You are slender, he probably will be as well.”
“Okay. Sorry to bother you.”
Liam didn’t seem to be tolerating the formula too well. It made him constipated and he wouldn’t drink very much of it at any one sitting. We tried him on soy formula, but this gave him wicked diarrhea and horrible gas pains. Back to cows milk formula. We mixed it with prune juice and this seemed to help a little. He still seemed to be a healthy, normally developing baby. He met all of his early milestones (not that there are a lot of them) and was just the easiest baby.

By six months of age Liam had started to cough a lot, especially at night. He began to have frequent elevated temperatures and developed his first ear infection (one of many, many, many ear infections). I can’t remember exactly how many times Liam has had a ruptured ear drum, but I think it’s been about five. Liam seemed a little floppy. He couldn’t sit up very well in his high chair and wasn’t starting to sit up unassisted. At first it didn’t seem to be that big of a deal. Babies develop at different rates. Other babies just seemed a little stronger. Liam was kind of content to just hang out in his bouncy seat or swing; he didn’t seem to want to explore the world around him. I chalked it up to personality. As the months passed, Liam still wasn’t progressing in his motor skills. In fact, it seemed like he was losing motor skills. Due to Liam’s chronic cough and temperatures, along with slightly lagging motor skills, the nurse practitioner sent us to Dorenbecher Children’s Hospital for a cystic fibrosis test, called a sweat test. They put heat packs on Liam to make him sweat and then collected the sweat to test it for this genetic disease. I didn’t feel in my gut that Liam had cystic fibrosis, but I was still nervous about the possibility. Fortunately, the test was negative. I was relieved – another crisis averted.

By nine months of age Liam had dropped off the weight chart completely and his height was below the 10th percentile (also quite a drop). He still couldn’t sit up by himself. He was consuming very little formula, even though he seemed hungry. Liam would cry out in hunger and quickly accept about 1 oz of formula, after that, he would refuse to drink any more. He still nursed well, but was starting to bite a lot and once he got some teeth, nursing became too painful and stressful to continue. His 9-month check-up was a real turning point for us. We had yet another pediatrician come in to consult about “the ridge” and now, added to the list of consult worthy items was Liam’s newly diagnosed failure to thrive, hypotonia (low muscle tone), gross motor lag, and chronic upper respiratory infections. This new pediatrician examined Liam and he and the nurse practitioner poked and prodded the ridge. They then excused themselves from the exam room and were gone for what seemed like eternity. When they returned they had several referrals for us including a pediatric geneticist, neurosurgeon, plastic surgeon, and physical therapist. “Why?” I asked. “What’s wrong?” They told me that this was just a precaution, they didn’t know if anything was wrong, but it was time to see some specialists.

To be continued.




Liam and Mommy shortly after he was born. Such a beautiful baby! I was in love.




Liam at a couple months of age after a bath. Such a cutie.




Here Liam is at about 10 weeks. I was dancing and singing for him and he was looking right at me, entertained. You can see his eye gaze and his ability to hold his head up and push his chest up while lying on his tummy. Something that was hard for him to do at eight months.




This photo was taken at Thanksgiving when Liam was nine months old. You can really see the ridge on his forehead in this photo. It was more obvious in person, but once it started to become a more prominent feature even photos could not conceal this growing concern.