ZiZi's Story: Two to Three Years

Just after ZiZi turned two, her leg muscles were noticeably different in size. Another bizarre symptom. She had also broken out in a weird rash on her leg and above her diaper area just a few days after the swollen forehead incident. The rash persisted (still does, to this day). She learned to compensate for her loss of balance and it was difficult for people to notice that she had any sort of balance disorder. However, she was in constant motion, rocking back and forth on her feet, because it was easier to control her balance while moving than standing still. As parents we noticed her catch her balance many times a day, although it came and went and there were good days with fewer / no catches and bad days when she would be quite frustrated. To friends and neighbors who couldn't see what we saw, we probably looked like we were after a phantom diagnosis for a kid who was fine, maybe just a little clumsy.

Although she continued to have ataxia, she had gained a little bit of height / weight on the GFCF diet. Her energy level had picked just enough for me to notice and by her 24 month checkup she was back on the height weight charts: 5th percentile for height and 3rd percentile for weight. This was wonderful news, although it didn't budge from those percentiles for a very long time.

However, bulldog that I can be sometimes, I wasn't satisfied. It wasn't as though she was suddenly thriving. She still needed an iron supplement and her coloring wasn't great. I kept looking. I cooked more / better. I implemented a Weston A Price approach to cooking in the household based on a cookbook recommendation (Nourishing Traditions) from our midwife.

Midway through the year we "upgraded" our diet again, this time to a gluten-free, casein-free, corn-free, soy-free diet. I had some allergy and inflammation testing done for myself and my nurse pointed out that frequently if gluten is a problem, corn and soy usually are as well (particularly with all the GMO crops in circulation - don't even get me started). So I put ZiZi on the same diet with me, all the while continuing to let Ani and Andrew eat gluten/casein/corn/soy snacks in moderation when ZiZi wasn't around.

Throughout the year we continued to have speech therapy and cranial sacral therapy appointments. At some point during my research we added omega 3s to the mix, along with wild blueberries which are a good anti-oxidant. At that point Zi's speech picked up suddenly and she had words. She didn't talk a lot but she could "read" her favorite book. She read it to the speech therapist and was released from speech therapy a little after age 2 1/2.

Search For A Diagnosis

Although the home cooked meals and therapies took time from our schedule, the real drain on our family's happiness was the continued search for a diagnosis for ZiZi's ataxia. It sometimes seems as though ZiZi lost her second year of childhood to being a lab rat. Virtually the entire year was spent going from specialist to specialist, test to test, searching for a diagnosis.

The neurologist was focused on the ataxia and the loss of physical skills that appeared with the strange forehead swelling. I was focused on the ataxia AND the diminutive stature she maintained. While continuing to test and meet with the neurologist about the ataxia I also set up an appointment with an endocrinologist, not so much to talk about the ataxia as about the failure to grow. The endocrinologist chided me for feeding her goat's milk instead of cow's milk and ordered a growth hormone test which turned up our first unusual lab result. ZiZi had plenty of growth hormone but basically no IGF-1. I went back to discuss results and he told me that the problem was with what I was feeding my child.

I was IRATE. If he had said something about malabsorption that would not have offended me. But to be told it was the foods I fed her, particularly when I was working my @$$ off feeding her a whole foods diet, was insulting. The note he wrote to our pediatrician's office even made our beloved PNP annoyed. She said it was a waste of the paper he wrote it on. We never went back to that endocrinologist but the seed was planted that perhaps something digestive was going on and was the cause for both the ataxia and the failure to grow.

After the fabulous assistance from the endocrinologist, I went up to Johns Hopkins for a second dose of medical expertise. "I see what you are talking about and I think it's something weird but not something horrible. Keep on your same path with Dr. T down in Richmond." Great. Thanks. So glad I took time off from work and dragged my husband up here to have you be too sleepy to even look at the videos before you poo poo our concerns.

So we went back to our (wonderful - seriously I do love her) neurologist at MCV. Because of the IGF1 result she changed course. She had been pursuing a theory that ZiZi was suffering from mini-seizures but now she mentioned something called mitochondrial disease. She wanted to do a spinal tap. We balked. I didn't even have epidurals when I birthed my two babes. I wasn't sure I could put a needle into Zi's spine just to get the right name for a diagnosis. So we stalled out and said we needed to think about it. When talking about the spinal tap the neurologist said she was looking for something that was usually associated with autism. Not that she was calling my daughter "autistic," mind you. Just whispering the word.

Meanwhile, I kept researching on the web. I was driving my husband crazy. I was probably driving myself crazy too but I was too worried and busy to notice. I picked up a lot of tidbits along the way (thus the addition of the omega-3s and wild blueberries) which helped to tweak things here and there. I went back to our fantastic Pediatric Nurse Practitioner and told her I had a hunch that this was all "leaky gut" (a somewhat medically controversial term, thus the quotes). I thought it too much of a coincidence that I had gut problems worsened at the same time Zi's medical issues that continued to worsen. So our PNP mentioned a local autism specialist. Again, that word. She said that she was the one in town who knew the most about "leaky gut" and it would cost us nothing but money and time to get her input. Seeing as how we had already wasted a lot of both money and time and had nothing to show for it, why not?

So we went to the pediatric behavioral specialist. She examined ZiZi, asked some questions, and then asked very specific questions about my health and my family of origin. It was like she knew the answers before she asked the questions. She explained the link between metals sensitivity, leaky gut, neurological symptoms, and more. She also said something about mitochondrial disorder and autism spectrum. I am sure there are doctors that would argue with her approach and statements and others who would support it. All I know is that the conversation with the phrase "high functioning autism spectrum disorder" was extremely helpful to my research! She ordered a bunch of tests (blood, urine, poo, and hair testing) and put ZiZi on a number of supplements after she got results. She had us add epsom baths to our routine and complimented us on the omega 3s and GFCFSFCF diet. She said that it was her opinion that the reason it took so long to find out *what* was going on with ZiZi was that we had worked so hard to keep her so high functioning that she didn't present like other three year olds would have presented with her situation.

Diagnosis
So the spring before ZiZi turned three we had a phrase "highly functioning autism spectrum" to research, a GFCFSFCF diet, and a bunch of supplements + epsom baths to help recover our child. We did them all diligently and continued on with the cranial sacral appointments as well. ZiZi was released from speech therapy shortly before she was 2.75 years old so we were on a good track. Things were progressing, albeit slowly.

I began reading up on the collection of symptoms for ASD and realized a lot of ZiZi's strange behaviors that we had observed since she was younger actually had official terminology. She had a couple of "stims" or self-stimulating behaviors. One had developed when she was about 6-9 months old and the other had developed around age two. She was very particular, almost religious, about tidiness. If food / drink dropped on the table it had to be cleaned up before she could continue eating and she would freak OUT if we were going to leave it there. She hated getting dirty. Her room had to be clean before she could go to sleep. Oh, and the closet door had to be closed too because that is the way a closet door was supposed to be.

All the little quirks our cute, sweet daughter had displayed were covered in a listing on autism spectrum behaviors. When she avoided eye contact and would not participate in a gymnastics class? Spectrum. When she did the same thing over and over and over with an obsession that no other child in the class would match? Spectrum. When she flicked her fingers out of anxiousness? Spectrum. When she had difficulty finding the right words or communicating? Spectrum. Obsession with the swings and spinning? Spectrum. It was eye opening and in some ways a relief.

Some parents fall apart when they hear the word autism. I embraced it with open arms because I had lost over a year searching (in vain) for an appropriate direction to help my child. My attitude is that it is just a label and who cares? It is a label on an insurance form used to explain a collection of behaviors. It isn't what defines my child and it doesn't tell us what the future holds for her anyway. Honestly, there are days I think it isn't the "true" or ultimate diagnosis we will reach for her after she has had time to heal and there is (or is not) anything left to diagnose.

Labels do not matter one way or the other. They are available for our simple minds to categorize the symptoms so we can set our expectations for behavior and treatment. I was glad for the label in that it helped me to understand ZiZi's mind better and understand how to better support her recovery. Strangely, I am deeply grateful for the phrase "high functioning autism spectrum disorder." Almost as grateful as I was the day she "lost" the label.