Uncharted Territory: My Journey of Mommyhood and Autism: Drug Trials and Tribulations

At last, a post dedicated to Nicholas' drug trial.....we've only be a part of it since May, so I've only procrastinated a tiny bit! I guess I should explain from the beginning, so here goes....

Once upon a time, not long ago, Nicholas had a primary diagnosis of Hypotonic Cerebral Palsy. This is basically a blanket term to describe his motor delays (like the fact that he didn't walk until almost age three, among other more subtle but notable things.) Now, when we first heard this diagnosis almost 3 years ago now, I was confused, but a little relieved because at the time I thought this explained ALL of his ~~issues~~ personality "quirks," and that this was going to be the end of our search for what exactly was going on with him. For example, he has a severe aversion to foods that are not familiar, he doesn't like to put his hands in a mid-line position, he likes to spin and hang his head upside down....etc. etc. etc. When he was a baby, he constantly arched his back, and had very low muscle tone, and had (and still does) an array of sensory issues. It was explained to me that these various "quirks" could all be a result of the CP because often the brain does not fire correctly, and this can manifest in a million different ways (despite the fact that his MRI showed no physical brain damage.) At any rate, we accepted this diagnosis at the time, and took the recommendation of the doctors to pursue physical, occupational, and Speech therapies for his various issues.

We did these things diligently for a little over 3 years, and during that time, his biggest accomplishment was finally learning to walk. It took a lot of our (and his) time and dedication, and along the way, I endured 2 pregnancies and births of new children in the midst of these hundreds of therapy sessions. It was a crazy ride.

Because CP (in our minds anyway) implied that most of his issues were to be physically related, walking was one of our main concerns, and we were elated when he began to finally walk on his own, learned to get up from the ground into a standing position, and do all of the things that he should have been doing related to walking in the previous two years. However, after the walking goal was achieved, my focus for him began to shift into teaching him to provide some kind of functional communication to us of his basic needs. My belief, at the time, was that the low muscle tone (related to the CP) was the reason he was not able to talk. I did not even let Autism enter my mind.....until we made our annual doctors appointment with our physiatrist. I will never forget the blow to my head and heart, when after he witnessed and celebrated Nicholas' new skill of walking for the first time, that he said bluntly to me, "I think you will find that most of his issues down the road will be less physical, and more cognitive." I froze....I couldn't even ask what he meant by that, because I was afraid of what his answer might be. As I had been told a million times before, there is no crystal ball to see where his future will lead, so we can't tell you the extent of his disabilities, and basically, good luck with that. It just plain sucked (and still does.)

After this visit, I started to read about Autism. Obviously, at the age of almost three, with no voice, this concern had entered my mind and I finally felt ready to acknowledge it. Though part of me had suspected this long before that moment, my feeling was that even if his diagnosis was Autism vs. CP, the therapists that he sees would treat the symptoms, not the diagnosis. (In fact, that's what they all told me when I would mention getting him evaluated for ASD.) In other words, I felt that we were already getting him all of the help that he needed, and further, insurance would cover it under a CP diagnosis, and unfortunately this is not true under and Autism diagnosis.

Fast forward to this May. Leading up to this point, my concerns about Nicholas' language had grown exponentially, and I had been reading non-stop about Autism and ABA Therapy, which is the only scientifically based therapy approach proven to help those with Autism. (this is not to say that other therapies don't help other kids, but just that this is the only one that has research and data to back its success.) There was no doubt in my mind that he fit the bill for the diagnosis. However, the evaluation for Autism is extremely expensive (sometimes in excess of $3000), and the therapy runs anywhere from $40,000 to $60,000 per year....and it is NOT currently covered by insurance. So, what were we to do???

Well, I had heard of a local and well-known neurologist in the Autism community who often is involved in research studies for autism. I decided we would start there. Upon arriving, he did a full interview with us, and observed Nicholas for several minutes before making his recommendation. He said that his wife (Mrs. PhD) was currently conducting a drug trial on Autistic children between the ages of 2 and 6 years old. He felt this might be a good option for Nicholas, because not only would he have a full and very thorough evaluation for autism (at NO CHARGE to us!!), if they qualified him for the study by diagnosing him with Autism, the drug that these kids have been taking now for about 3 years (we were at the tail end of this study) has been extremely successful in the areas of social skills and communication, which are his two largest areas of deficit. Without boring you with too many of the details, the drug acts as serotonin (of which Autistic people tend to have low levels in various parts of the brain,) and helps to stimulate the specific neurons responsible for social behaviors, cognitive and communication abilities. Things like attention and focus improve, eye contact, and reductions in repetitive behaviors (like in kids who rock or flap) have been observed. The doctor even noted that in some children who had only two or three words before taking the drugs had begun speaking in full sentences within weeks of taking it. We sat in awe as we listened to the doctor. Sounds too good to be true, right?

This was, perhaps, the very first time in our entire journey that I left a doctors office filled with hope instead of drenched in tears and anxiety. I called the study coordinator immediately after walking out the door of his office, and we had him scheduled for his evaluation, which included the various standardized tests administered by a psychologist for Autism, as well as a full physical, blood work, and a PET scan. This was no joke! In fact, this was much more thorough than any eval we could have paid for. At the end of the 3 hour visit of evaluations, and our second half day visit to conduct the pet scan, the psychologist entered the small hospital type room where we sat with Nicholas, who was contently watching PBS on the television mounted on the wall. My anxiety was high....this was it. We will know once and for all what his diagnosis is, I thought to myself.

She chose her words carefully, and as she handed me the Autism Speaks "First 100 Days" kit, she confirmed what I had, yet again, suspected for months. I think she expected more of a reaction from us, but for some reason, in that moment, I simply took the thick packet of information about Autism from her, and nodded for her to go on. She explained his test scores, and said that he qualified under every test as having a diagnosis of Autism, and as a result, they would be happy to accept him into the trial. My emotions were very mixed at this point, but I think because of the hope that the neurologist had given me, to have a diagnosis such as this made at the same time as being offered a nugget of hope that a drug might be able to help, him changed my reaction significantly from what it would have been had we just gone to a clinic and been told "Yep, he's Autistic. That will be $3000 please. Thank you and have a good life." That is basically how I felt his diagnostic process had been up until this point. Short, sweet, and with no direction or hope.

The caveat to this story is that while Nicholas was accepted into the study, it is conducted in a double-blind fashion, which means that we do not know if he is receiving the medication currently. His possibilities were to receive one of two different doses, or a placebo. In the first weeks of the study, I (and others) did notice a significant increase in his ability to be attentive, and much improved eye contact. I still see these things, but since then, I have not noticed many differences since he began the drug. (He is definitely not speaking in complete sentences!) However, having begun his ABA therapy concurrently, I see drastic improvements in him in general, and perhaps it is because he is able to focus better due to the drug, and the one on one intervention of the therapy keeps him engaged long enough to learn. Or, maybe I'm imagining it all, and he's on the placebo. We may never know. However, beginning next week, the voluntary portion of the study begins, which means that he will definitely receive the drug (if he isn't currently already) and we just will not know his dosage. This phase will go on for 6 months, and you can bet I'll have my extra-sensitive eyes on him watching for any changes.

At the end of the day, I think that this is a great opportunity for our family to help do our part in finding a cure or at least a treatment for Autism symptoms. It was a difficult decision to put him in the trial, not knowing if he would even get the drug for the first six months. This was because the doctor who recommended us to this trial offered to simply put him on the drug under his care if we wanted to be sure that he was receiving it as soon as possible (rather than wait it out for the first six months of the study.) At his age, timing is critical, and the earlier the better in terms of receiving the drug (so says the doctor. ) But we opted to try and do our part for science, because it is important, and it is the right thing to do. Time will tell if this new phase of the trial will show marked improvements in his symptoms. It's just a wait and see game. And the fact of the matter is that there is no miracle cure for autism (YET! I will keep hoping!) Until then, we will give him his medicine twice a day as prescribed, and pray that someday, somehow, this will help him or someone else.