Somehow, in that crazy, tumultuous time, we managed to bring another child into the world. One day I was nursing his newborn sister while Zachary played across the room. Without any indication of frustration, he walked across the room, bent over my lap slowly as if to nuzzle the baby, and bit her. I was stunned. Something was definitely wrong with my son.

We responded by making rules-not for Zachary, who was too young and couldn’t seem to understand simple directions anyway-but for the adults. The iron must never be out or turned on when Zachary is awake; all doors to the outside must have locks installed up high; all second floor windows must have window locks installed.

Only plastic plates for Zach, in case he doesn’t care for what is being served and would rather see it airborne. And the oven must never be turned on without two adults home as European ovens only have two panes of glass and easily get hot enough to burn toddler hands.

Despite all these precautions, Zachary sprinted for the not-quite-cool iron one day after waking early from his nap and managed to burn his hand badly. Terrified, I scooped up my silent boy and rushed him to the sink, running cold water over his hand for several minutes. When I peeked to see the damage, I discovered I had been rinsing the wrong hand. My stoic boy had never even whimpered.

Just as we were preparing to move back to the United States, Zachary stopped sleeping altogether. He would fuss and cry at nap time; nothing soothed him. At night, he was the first to be put to bed but the last one to sleep.

Any noise in the night jolted him awake, and despite three layers of curtains in his bedroom, he awoke at first light, sometimes as early as four o’clock in the morning. My husband and I took turns popping him in the car and taking him for pre-dawn countryside tours so that the rest of the family could sleep.

Zachary’s condition worsened upon moving back to the states. He was constantly on antibiotics for ear infections, pneumonia or both. We witnessed increasing tantrums and rage. He began to bite people several times a day. Exhausted, and still caring for a newborn, I decided I couldn’t care for him “24-7″ and put him in a daycare two days a week.

After a short honeymoon period, he began to bite at school, too. Fortunately, we knew the care providers at his school well, and they waived their strict “three bites, you’re out” policy as long as I continued to search for the cause of Zachary’s problems. Before long, they had referred us to their staff behaviorist.

One of the behaviorist’s first observations and recommendations about Zachary still stands out in my mind, “Any child this young who is having such difficulty adapting to the world around him needs a full pediatric workup.”

Although we visited the pediatrician constantly, he was usually more concerned with bringing down Zachary’s out of control fevers, treating recurrent fungal and bacterial infections, or managing Zach’s pneumonia well enough to keep him out of the hospital. We were in a constant state of upheaval.

Sleep deprivation is its own particular kind of torture, and because of it, my memories of this time are vague and fuzzy. Sometimes, it was hard for me to determine what was real and what wasn’t, what was normal and what wasn’t, and what I should or should not be upset about.

Kind strangers, witnessing Zachary’s obsession with a rainbow in a puddle, would compliment him, and me as well, unaware that we’d already been standing there for 20 minutes and that I was afraid of the tantrum I’d endure when I picked him up.

Car alarms and police sirens would send Zachary into a forty minute frenzied tantrum, even as polite neighbors in our new neighborhood insisted that Zachary’s behaviors were just “normal two year old stuff.” Our entire family came to circumnavigate him, primarily to avoid being bitten.

I started taking notes. I recorded everything I observed about Zachary in a little blue notebook: his sleep patterns, daily food intake, erratic behaviors, Jekyll and Hyde mood swings. Struggling to make sense of it all, I showed the notes to our pediatrician. He decided to refer us to a developmental pediatrician.

Not knowing anything about that subspecialty other than the (not very) descriptive name, I was elated! Finally, we would find the cause of Zachary’s missed developmental milestones and have a better idea where to look for answers concerning his constant illness and seeming discomfort with the world around him.

On the day of the appointment, Zachary was his typical self: semi-sick, on the move, into everything, reachable only by a few “bridges”: cars, wheels, food. He was compliant with her testing and surprisingly calm while she took his health history.

When she told me she thought she had some clues as to his true problem, my heart leapt! She turned and told me that my son had severe Attention Deficit Hyperactivity Disorder, and probably fell somewhere on the “spectrum.” 

That night, my husband and I actually laughed for the first time in a while. What perception! Such acuity!!

Our laughter continued as we pointed out what wonderful insights-what incredible thoroughness!!

We thought we had a diagnosis and could now have Zachary treated medically.

Slowly, however, we found ourselves back at square one: even if Zachary was “ADHD,” why was he sick-really sick-so frequently?

Why had he been on antibiotics 10 times in the past year? Why had he had pneumonia twice in eight months?

And why, even if he was completely hyperactive, did he eat so constantly and voraciously while maintaining his position at the 50th percentile for weight?

Even as we used her diagnosis as a tool for beginning the process of obtaining early childhood intervention services for Zachary, we dismissed her diagnosis entirely. It was simply not a meaningful waypoint along the path of finding out what was really wrong with Zach.

At home, I retrenched. I had thought that our referral to a developmental pediatrician would be the key to unlocking this mystery. As I thought it through, I decided that no one-no matter how skilled-was ever going to figure out what was wrong with my son during a 15-minute office visit. Somehow I knew that in order to find out what was really wrong with Zachary, I needed to start coming up with some educated guesses of my own.

My husband called each guess the “Diagnosis of the Week.” Obsessed, I thought about Zachary’s situation every moment of the day. When Zachary was home, I didn’t dare leave him alone even for an instant. I once turned around from scrambling eggs for dinner to witness him with a fistful of his baby sister’s hair in his hand, banging her head rhythmically between the back of the highchair and the tray.

But when he was at daycare, I stopped by the computer between chores to Google various childhood disorders: Intussusception, Cystic Fibrosis, Hyperinsulinism. Each time, I would spend a day or so thinking about whether Zachary’s situation fit, calling the pediatrician or hospital to obtain Zachary’s latest blood test results.

Our big break came on Halloween, or rather, the day after Halloween, when Zachary was 3 years, 4 months old. We had crafted Zachary’s costume out of a box. Using red spray paint and overall style suspenders, he was the Chief of his very own fire truck.

I decided I was going to loosen my usually strict attitude toward candy consumption, and Zachary took full advantage. Soon, he wasn’t wearing his costume anymore, and was unable to stay with the group. But he was happy, dipping into his candy bag at will. I had left our usual grocery sack of snacks at home.

I don’t remember that night as any better or worse than other nights, but Zachary was in a particularly foul mood on the way to daycare the following day. He got mad at me for something, and declared that he would run away from school. About 11:00 that morning, his school called and asked me to come pick him up immediately.

His panicked teacher met me at the door. Apparently, Zachary had attempted to scale the 6-foot privacy fence surrounding the playground, and had nearly succeeded. At the moment the teacher saw him, he had one leg over the fence, and was not far from getting the other leg over.

Alarmed, I called the pediatrician for an urgent visit that day. Armed with my notes, I offered a hypothesis: perhaps Zachary wasn’t metabolizing sugar correctly. I had done some research, and I postulated that Zachary was the opposite of diabetic: perhaps he was over-metabolizing sugar, and that, in turn, was causing the extreme hunger, energy spikes, and mood and behavior problems. The pediatrician wrote a referral to an endocrinologist.

Two weeks later, the Chief of Endocrinology at a very reputable hospital evaluated Zachary and postulated that his problems were strictly neurological – Zachary was ‘on the spectrum’ (there’s that term again…) somewhere most likely between Asperger’s syndrome to full blown Autism.

Pausing to let this information sink in, he looked over Zachary’s medical history once more and asked, “One thing really bothers me about his history, though. You say he has never had a formed stool?” No, not ever. They really never changed from the mustardy, breast-fed poops characteristic of a newborn.”

And he always has this severe diaper rash going on? I’d really like to send him over to Gastroenterology today.” Of course, Gastroenterology had no openings that day, and so I got to navigate my hour-long Capitol Beltway drive home with a pit in my stomach and a new set of unanswered questions.

Back at home, I was disappointed, but had some new information to consider. Once again, consulting the “University of Google,” I began to search for information on autism and gastric difficulties. One of the first things I encountered was a book written by Elaine Gottschall called Breaking the Viscous Cycle.

In her book, Elaine seeks to help people suffering from intestinal problems such as Irritable Bowel Syndrome, Crohn’s disease, and Celiac disease, among others. Almost as a side note, her work mentions that many children with Autism also experience gastric difficulties, and that sometimes, her diet helped to lessen gastric symptoms and autistic behaviors at the same time. I immediately ordered the book and began to contemplate how we might go about changing Zachary’s diet.

Elaine Gottschall’s theory, boiled down to the essentials, is that some people cannot digest anything but the very simplest carbohydrates, or “monosaccharrides”. When complex carbohydrates are ingested and the body cannot break them into usable parts, the gut turns these undigested carbohydrates into toxins, essentially various products of fermentation.

She advocates a “Specific Carbohydrate Diet (SCD)” that essentially sidesteps this fermentation/toxin process by eliminating the offending foods from the diet. While I waited for the referral to Gastroenterology, I decided to take matters into my own hands and try the diet.

It took several days to prepare for such a drastic dietary change. On November 13th, I started the diet, after having completely overhauled the pantry the night before. On the advice of the book, I kept Zachary home from school. I wanted not only to control what foods he ate, but also to monitor his reactions. According to “The Vicious Cycle,” things would get worse before they got better.

Although I was completely prepared for what happened next, it was overwhelming in its intensity. After the initial tantrums of not being indulged with his favorite breakfast foods (Quaker Dinosaur Eggs), Zachary eventually got hungry enough to try the scrambled eggs I offered him. As the day wore on, his malcontent over his new food choices was replaced by a rapidly spiking fever.

He became very lethargic. Soon, he began stooling almost constantly, and was flu-like in his demeanor. At one point, I simply put him into the empty bathtub because I was unable to keep up with his toileting needs and needed to contain the mess. Apparently, Zachary was experiencing the Herxheimer effect: his radical change of diet was causing the death of many types of bacteria in his colon.

The associated release of toxins was occuring faster than his body could process them through the kidneys and liver, and the overall effect turned him into a very sick kid. Had I not read Elaine Gottschall’s book, I would have stopped the experiment or called the pediatrician for advice.

But armed with knowledge, I decided to wait things out a bit. Although I was tending a very sick preschooler, inside I was singing! This was exactly what was supposed to happen! I was hopeful that once this part was over, I would finally meet my son.

By the next day, we saw dramatic differences in Zachary’s behaviors. Although he was still hungry all the time, he had acquiesced to his new diet and started to forget about old favorites. For the first time, he paid attention to our requests and commands. He began to behave much more predictably.

Day by day, he improved, and everything began to feel more normal. He started to take naps every day! He went to bed willingly and slept through the night for the first time! By Thanksgiving, less than two weeks after beginning his new diet, he was potty trained (the first half, anyway!) and sitting for books and movies, something he had never done before. My husband was amazed, and summed it all up in his description to his parents: “It is as if the fog has lifted.”

Sometime in early December, our referral to Gastroenterology came through. In the meantime, I had done a lot of research on digestive disorders in order to make Zachary’s 15-minute appointment as productive as possible.

The more I researched, the more one disorder kept striking me: a digestive disorder called Congenital Sucrase Isomaltase Disorder, or CSID. As I read more information, I somehow knew that this, and not any of the other disorders, was what was wrong with Zachary.

Congenital Sucrase-Isomaltose Deficiency, or CSID, is a metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase in the small intestine. These two enzymes, sucrase and isomaltase, assist in the breakdown of table sugar (i.e., sucrose) and certain products of starch digestion (dextrins), and their eventual conversion to glucose, the basic fuel for the body.

Undigested sugars accumulate in an affected person’s intestine where they ferment and cause numerous physical symptoms such as chronic acidic diarrhea, abdominal distension, abdominal pain, gassiness, irritability, and severe diaper rash. Left untreated, this disorder can also lead to malnutrition and failure to thrive.

Yet, even with this information, I still had some doubts. For one thing, many digestive disorders result in exactly the same symptom set as Zachary had experienced and is suggested by a CSID diagnosis. More troublingly, no digestive disorder-CSID or any other that I could find-suggested that a child would have autistic tendencies and symptoms.

CSID is usually thought of as an inherited disorder, though there are some cases of acquired CSID. In order to inherit the syndrome, both parents must carry the recessive genetic code for the disorder. In some literature, CSID has been nicknamed the “Viking Disorder” because although still rare, it is far more prevalent in people from more northern regions of the world.

As it turns out, fruits that grow in northern climates, such as blueberries, cherries and apples, are naturally sweetened with fructose; whereas tropical fruits, such as mangoes, papayas and pineapple, are sweet due to the amount of sucrose they contain.

Doctors think that these northern clime peoples simply lost the biological adaptations necessary to digest sugary foods. Our ancestry is suspect: I have a Norwegian and German lineage, my husband a strong German and northern European descent.

In January of 2005, we met with a specialist who was doubtful that Zachary had CSID because of its rarity. He insisted that CSID was really atypical, and thought the chances that Zachary had it were slim. He also was hesitant to subject Zachary to a small bowel biopsy, the only definitive way to diagnose the disorder.

I was also reluctant to put my son under general anesthesia. What would it change, anyway? We were certainly never going to go back to Zachary’s former diet. I scheduled the surgical procedure with the thought that I might not follow through. I went home and sent a lengthy email to the only place I thought might have advice I could use: an online support group for parents of children with CSID: http://www.csidinfo.com/

While we waited for February 2nd, the date of Zachary’s upper bowel endoscopy, I began to feel a little panicky. What if it wasn’t CSID? We were still very new to the diet espoused by the Breaking the Vicious Cycle book, and I couldn’t decide which outcome would be better: finding Zachary did have CSID, and enduring a diet without sugar for the rest of his life, or continuing down the path of the Special Carbohydrate Diet.

One day, while still struggling with this decision, I received a call from the founder of http://www.csidinfo.com/, the online support group for children with CSID. For over an hour, this parent of a 13-year-old girl with CSID talked me through nearly every aspect of this disorder. I had emailed her a long list of questions, and she patiently and thoroughly answered each one.

She convinced me to go through with the endoscopy, mostly with the assurance that without it, there could be no definitive diagnosis, and without a definitive diagnosis, Zachary wouldn’t be prescribed Sucraid, a prescription enzyme replacement for CSID sufferers. “Don’t worry-you’re going to get your life back,” she promised.

On February 2nd, Zachary had his biopsy at Walter Reed. On February 28th, Zachary’s Gastroenterologist called to confirm our suspicions: Zachary’s diagnosis for CSID was positive. A month later, we started him on Sucraid, the enzyme replacement, and saw yet another wave of improvement in his attention span, behavior and general demeanor.

Overall, I breathed a sigh of relief. I had a brief period of melancholy, focusing exclusively on how Zachary’s diagnosis might limit his possibilities in life: he probably would never be able to herd cattle in Argentina! I spent a lot of time looking back over what had happened and trying to make sense of it all.

With the benefit of his diagnosis, it was fairly easy to understand why moving back the United States and my easy access to processed foods at Costco caused such a significant downturn in his life. But the early problems? Those took a bit longer to piece together. Over time, I learned that Infant Tylenol, which had given Zachary relief from his fevers, lists corn syrup as one of its principal ingredients.

I also discovered that the liquid vitamin drops-prescribed by Zachary’s Belgian pediatrician to combat Vitamin D deficiency common in infancy so far north-were essentially sugar syrup. Many facets of our early struggles became clear: when Zachary was about 6 months old, we spent a blissful week with friends at a ski chalet in France.

Zachary was calm: he slept through the night, he was cheerful during the day, and he played and interacted with the other children. Looking back, I realize I had forgotten to bring those sugary vitamin drops on our trip.

It’s hard to believe, but all this is ancient history now. Zachary’s diagnosis was nearly four years ago, and he has now spent more than half his life “symptom-free.” Day to day, his life is extremely normal, and birthdays, holidays and celebrations involving food are straightforward now: it just takes a little advance planning. Sometimes, however, I look back on that period and wonder how we solved it.

Through intuition, persistence and a lot of luck, we were able to navigate our way through the labyrinth of possibilities and emerge with our son. Each and every day, I am thankful for this outcome, and simultaneously hopeful that other families facing similar problems will see their way through, as well.

(Editor’s note) Thank you, Melissa, for sharing your story with Chic Mom. Thank you for advocating on behalf of your son, something for which only you could have done with such focus, intensity and unconditional love. You saved Zachary from a lifetime of incorrect diagnoses that could have made his life unnecessarily dreadful. You are a true hero and inspiration for mothers everywhere.

Join us next month for part II of this story to hear about the dietary overhaul this family underwent and how it changed Zachary’s life. Not only have these lifestyle changes given Zachary a normal life; the whole family has benefitted nutritionally. Once Zachary was diagnosed, the real education began!

The changes the family has made have led this chic mom to a new passion in her life, that of nutrition and the connection to the well-being of children, a path she never imagined she would take. She has become an advocate for all children and has been able to see this situation as a great blessing in her life.

For more information about CSID, please see:
http://www.csidinfo.com