Misdiagnosed with Autism & Apraxia

BEFORE DIAGNOSIS
It was clear at my son’s 2-year appointment, that he was not meeting his milestones. He was non-verbal, did not parallel-play, did repetitive play and movements, was in his “own world” and had temper tantrums that were more than what the terrible two’s should be. I was referred to the “Birth to Three” services in CT. My son was given speech and occupational therapy while he attended regular preschool. But by his third birthday, it was clear it was not an appropriate placement and he entered the Special Education Pre-School program. His behavior had declined even further. He ignored his baby sister; was not affectionate to anyone. He would scream if I walked him on the “wrong” side of the road, refused to go into certain stores, or used the “wrong” cup.
 
Looking over his medical files from this period of his life, he did have strep throat as a toddler. He was on antibiotics for ten days but clearly that was not enough to heal him. That round of strep throat might have gone but our life was PANDAS had really just started. After that he was sick often with many rounds of strep throat along with ear infections, colds and viruses. I joked with the Pediatrician that they were going to name an exam room after him.
 
Looking back, he definitely had OCD. He was also extremely hyper and impulsive. Worrying about his safety, I built a fence around my backyard because it was hard to keep up with him, especially with a newborn in tow. I call it his college fence because of its cost. At this point he had no formal diagnosis. Although he had many autistic symptoms/behaviors, his special education teacher thought it was not autism. Soon he was diagnosed with Apraxia and the belief was that his tantrums, repetitive behaviors, low muscle tone and inability to play with others were due a severe speech delay. During this time, there was a marked increase in behavioral issues: his tantrums were escalating and getting him into bed was extremely difficult. We basically stopped having play dates because of his behavior; we were becoming more and more isolated every day.

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In addition to these behavioral issues and speech problems, my son also suffered from severe asthma. When he was four years old, he got a bad cold and was hospitalized for a few days.  He was treated with high doses of antibiotics and steroids. We left the hospital and entered into the whirlwind of Thanksgiving and Christmas. During that short period of time he emerged; his autistic behaviors melted away. His speech improved rapidly, he potty trained, his temper tantrums reduced, he was engaged and affectionate and his OCD relaxed. By spring, he no longer qualified for special education; he was all of a sudden set to enter mainstream kindergarten without an aide. The special education teachers felt he was just maturing and the traditional therapy had worked. But in hindsight it was the IV antibiotics and steroids he received while in the hospital. I finally met my son. It was like he came out of the fog.
 
He was in complete remission until 4th grade. I was diagnosed with Stage 3 breast cancer and went through rigorous treatments. And low and behold, he had another bout of strep throat. Towards the end of my treatments, he suddenly started experiencing severe anxiety about his own health. He thought he had every disease and was worried that the food he ate was spoiled etc. I took him to the Pediatrician who recommended he see a Child Psychologist. We went to therapy for more than one year when if properly diagnosed we could have treated the underlying cause of these behaviors correctly. It helped a little bit but my son was still a prisoner of his own anxiety. He was attached to my hip! He needed constant reassurance that he was okay. It was so stressful. The Pediatrician and Therapist thought his stress about my cancer was manifesting itself in worries about himself. The next year, his grandmother passed away and his aunt who lived with us nearly died from a brain tumor.  His anxiety reached a new high.

DIAGNOSIS & TREATMENT
He also suddenly started having vocal and physical tics. I had a friend whose daughter had physical tics. I called her up and asked her what her daughter’s diagnosis was and she said PANDAS. So off I went to my computer and Googled PANDAS. WOW!!!!!!!!!!!!! The symptoms as well as the relapsing and remitting of these symptoms after antibiotics described my son.
 
My friend got me an appointment with an Immunologist who specializes in PANS. He prescribed Augmentin and once again, his symptoms melted away. His OCD, anxiety and ADHD reduced tremendously. After a long course of Augmentin, the Immunologist suggested we try to wean my son off. It was a disaster. He got two strep infections in a row and his PANDAS symptoms returned right away. He went back on Augmentin but he did not return to normal behavior. He was put on a second antibiotic that did not help either. Then he caught a stomach bug that winter and he was the worst he had ever been. He constantly had to pee and had extreme, debilitating anxiety. He was aware that he was “losing his mind”. He was begging us to take him to the emergency room because he thought he had numerous diseases. His Immunologist prescribed a steroid burst that reset my son’s system.  My son was not a candidate for IVIG as per our Immunologist who said his blood test results were in normal range.
 
It became clear that my son needed more help than our Immunologist could provide. He had flares on and off; I call it “teetering”. It is a scary place for anyone to live, good days and bad days and you never know which one you will have. Looking to stabilize him, we started to see a local MAPS Integrative Doctor. She tested for the MTHFR gene issue and he was positive. She put him on anti-inflammatory and anti-fungal supplements to fight his yeast and inflammation issues. He has improved greatly. Prior to these new treatments he was able to keep it together at school for the most part but he fell apart at home. After treatment, the behaviors seen at home were no longer a part of daily life instead he laughed, joked and enjoyed life again.
 
However, this summer he started to ‘teetering” again. He is in the midst of puberty. Plus he had a bike accident this summer that scraped him up bad, which caused another flare. Also he recently got braces which children with PANS often seem to react badly too; whether it is from the metals, harboring bacteria, or moving his bones/teeth, I am not sure. But we are looking into ways to help alleviate any problems caused by the braces. I am also ready to try Neurofeedback to see if it can improve his anxiety and reduce the effects of any future flares. It seems that with every flare it gets harder and harder to get my son to within a “normal” range of anxiety.
 
My son has been in and out of CBT therapy for the last few years to give him tools to deal with his flares and ongoing anxiety. While he does not have a 504 plan or IEP anymore, I have gotten him excused from health class these past two years. Any health related news report or article he sees sends him into a tizzy.
 
My son has had PANS since age 2. It was way too many years until he was properly diagnosed and thus too many years before he was properly treated for the underlying infections and inflammation.  This is why with each flare his symptoms seem harder to shake. I am sad that my son lost so much of his childhood due to this illness. I want to try and heal him so he does not have to endure this for years to come. I also know the emotional, physical and monetary toll it took on my family and me. Words cannot describe the heartache.
 
It is clear that not enough parents and professionals are educated about PANS. My Pediatrician apologized to me for not diagnosing my son properly. She said that the children in her practice that have PANDAS could not function at all and were curled up in a ball and could not go to school. She said she learned a lot since then especially that the symptoms can vary in severity and not all PANDAS kids have the same symptoms.
 
So let’s review how many professionals have seen my son and missed the diagnosis:
 
-        2 Pediatricians
-        School Psychologist
-        Special Education Teacher
-        Head of Special Education
-        Summer School Special Education Teacher
-        3 Speech Therapists
-        Vision Therapist
-        Preschool Teacher
-        Birth To Three Evaluator
-        Birth To Three Speech Therapist & Occupational Therapist
-        Special Education Aides in Preschool
-        Counselor in School (When I was sick)
-        School Teacher (When I was sick)