Today we share with you the story of Giuseppe's recovery, who went from a diagnosis of autism to being a functional teenager thanks to his mother's tireless search to find him a treatment.

Story told by Giuseppe's mother.

At Natalia's request, I decided to tell the story of my son's recovery, in the hope that it will be of some contribution to health professionals, and families, who seek a better understanding of this phenomenon that they decided to call autism.

Giuseppe was born by cesarean section, from a planned and enjoyed, happy pregnancy; I had never felt so good. 

At the hospital, she only had my colostrum for a few days. He cried a lot, for hours, on weekends, until he was almost 3-4 months old. My mother, who was visiting, held him, pale, and told me that she had never seen such strident crying.

Your dad and me we turn to a pediatric gastroenterologist from the Las Condes Clinic, in RM de Chile, who told us that it used to happen that the intestines of the newborn were not fully developed. He sent us back home with luftal drops, which didn't seem to help at all. Upon returning, he decided to do images and an allergy test, both with alterations. He had a lot of gas, the specialist told us. Additionally, he was allergic to cow's milk protein. He gave him goat's milk, and he was still sick. Then, synthetic milk, until a year or so later, when he was discharged, and then cow's milk again.

He walked at 11 months; always very restless but, with a look and milestones considered normal. At about 2 years old, I remember that, on a trip to the United States (USA), his diaphragm seemed to sink, and his breathing was shallow and rapid. The emergency room diagnosed him with otitis media, with antibiotics as treatment.

It was very selective, therefore, he accepted his carrot porridge with orange, and vegetables, but little cow's milk, always. He slept well, but his head was sweating a lot.. He needed a towel wrapped around the pillow, to contain all the sweat, while he slept.

At 3 years old

We had already been transferred to the US, He was a very restless, hyperactive child, but his pediatrician always told us that this was normal. Very anxious, he couldn't stand being in the crib or in the stroller. Mom's arms were her refuge, all day long, or strong cries would come to us. And, of course, it was the mother's fault, for having such a "spoiled" baby, they told me.

His bowel movements were normal, and we continued to notice a lot of attachment to me. More than other children, in general.

We started a program called “Puddle Jumpers,” where there were activities and those of us from the neighborhood got together. Everyone very tuned in; but not my child. I noticed that he needed more of me to concentrate. and remain coordinated. 

At 4 and a half years old, our first attempt to send him to school and, two days later, the principal calls us: «Your son is not ready, yet. Come look for him as soon as possible, because he is very upset«.

When you no longer reach for him, They already had a refund check for us for the payments made for the year and, of course, his packed backpack. He had wet himself all over himself and was shaking, inconsolable, in front of the other little boys. He told me that he missed me and that's why he was crying.

A year later, with great attention, I found him an English teacher, with a unique charisma and, finally, we gradually managed to leave him in a pre-kindergarten, where everyone was 1 year younger. He seemed to identify with those children more than with those his age. There he learned to read and write, all before he was 5 years old. He enjoyed playing and made friends. Always anxious, when entering class, but already tolerating being without me for 4 hours a day.

At that time, some memories come to mind; the 9 immunizations they gave him, distributed between Monday, Wednesday and Friday of a week, for the process of our citizenship; and the many tick bites, of numerous afternoons spent playing, among the trees, with friends from the neighborhood. 

I remember that We lived nights with a high fever, and his pediatrician's instructions to alternate between acetaminophen and Ibuprofen. And so it was, until I no longer have memory of when it got better. But, they were periodic, unexplained fevers. I mention them, because we do not know what implications there could have been, if anything they influenced his future regression.

My memory of his childhood changes. I already knew that something was not right

Since then, my memory of his childhood changes. I already knew that something was not right. Distracted, lethargic, with many sensory problems, he did not wear clothes that were not comfortable; he didn't let his hair be combed; nor bathe, nor cut hair; He screamed in fear when he went to the pool; and everything in his environment was demanding, different. Many trips to the pediatrician; pharyngitis, otitis, tonsillitis, rhinitis, skin rash, molluscum contagiosum. It was a constant going back and forth to medical appointments.

The first time a teacher called me was in her first grade. He told me that he noticed that my son hardly responded to commands. He wasn't concentrating. A psychiatrist asked us to give him a stimulant, under the presumption that he had ADHD, which was a total disaster, as he developed horrible facial tics. We got so scared that We did not seek professional help again. And the teachers kept calling us. 

Very distracted; very pampered; well behind the average in development. That I had to teach him to be more independent. That I, that I, that I...

In April 2017, one afternoon, he comes home from playing with friends and has a rage attack in front of me.  I think that afternoon marked our destinies for him forever.

My son was no longer present. One being, another, yelled at me that his friends didn't play what he wanted, and that he hated them (a word we didn't use at home). From there, he grabbed his dog and put him in the middle of the room and told me not to take him out because the tornado would take him away. 

He started checking light switches; all the lights on. And very aggressive, He yelled at me that I didn't understand him, and hit the walls hard. Opening holes.

The mothers in the neighborhood told me that they didn't understand why he had become so sensitive to everything.

Along with the molluscum on his skin, and his erratic attitude, we realized that his little friends began to reject him and, of course, at school, too.

Bullying took hold

You They hit me in the bathroom one day; which culminated with our departure from the city, trying to give him perspectives for treatment and a new life, after the departure of the school principal, who “retired” early, soon after our complaint to the superintendent. A letter, left by my son, to the boy who hurt him, that he wanted to kill him, was enough for us to get scared and seek professional help. 

From there, it started with some noises, sounds, something that I didn't understand. They were like little screams, with an unusual flickering of the eyes. A neurologist later diagnosed him with Tourette Syndrome. He sent us to a specialized therapeutic clinic, who diagnosed him with ADHD, generalized anxiety, separation anxiety, and obsessive-compulsive disorder. 

Within a few days, from the beginning of his symptoms, he was already urinating on his clothes, and seeing images that had him in panic. They used to appear in front of him, when he opened his eyes, or on the sides of his eyes, as he explained to me years later.

What hurt me was the change in personality; seeing a docile, happy, kind child transform into an aggressive child, almost unrecognizable, at certain times of the day.

With established therapies, they asked me to evaluate him. There were two days of tests and interviews. The psychologist called me to tell me that, despite his fluttering and jumping, which had just begun, along with the tics, which He wouldn't give him an autistic diagnosis, Well, he saw it very present, as if something was hindering his development, but how borderline. That he did not yet have 100% security enough to diagnose ASD.

His deterioration was noticeable every day

Already, his wings flapped for hours a day. Very pronounced dark circles, academic deterioration, many verbal and motor tics, which did not allow him to pay attention to the class. I couldn't write anymore. He had regressed neurologically, before my eyes. We were living a nightmare.

It was when a neighbor asked me if I had heard of a syndrome called Pandas..

An integrative pediatrician evaluates him, and comes out with high ASLO, and high Mycoplasma Pneumoniae IGM. He also had high C4a, high IgG1, and his Cunningham panel was positive for anti-Tubulin and CAM-Kinase II. Oh, also the IgE to animal milk protein was high. Not IgE to casein; but, the IgE for milk protein. I make space for that information, since I see food allergy panels that only check for casein.

The Pediatrician calls me and tells me: "your son has Pandas and Pans." From that moment on, he started taking azithromycin and amoxicillin clavulanate, but his behavior did not change at all.

I read a lot; He asked many doctors for help. My life had become an endless search for information and help. It was when I discovered the page of a Brazilian psychiatrist, called "Eneida Mattarazzo", with videos of children she helped. His book also mentioned a Brazilian doctor, Dr. Zerballos, a Pathologist, Dr. McPherson, from the University of Texas here.

I looked for them. Dr. Eneida was already retired; Same McPherson. But, not Dr. Zerballos. And he answered me on a Sunday morning. I tell that, because it may also have made a difference in Giuseppe's recovery.

Dr. Zerballos told me that he and Dr. McPherson had advised Dr. Enenida to remove her patients' tonsils and adenoids before treating them.. This is because these tissues harbor a large number of pathogens, which could hinder treatment, even if there was no positive result for an infection when analyzed with swabs.

I took it to heart and, even though the pediatrician did not support us, we managed to get an ENT doctor to help us. My son's tonsils and adenoids are removed in the hope that his Strep infection will stop and his tics and physical agitation will improve.

Soon, After surgery, they gave him Dexamethasone, to be taken on Monday, Wednesday, and Friday, for relief of postoperative inflammation and, we noticed that all his symptoms were gone. For a week. 

According to her immunologist later, Dr Harumi Jyanouchi, It was a demonstration of Neuroinflammation. The tics went away as the inflammation went down.

His infections, however, especially tonsillitis and pharyngitis, continued. Along with constant headaches, stomach pains, constipation, and skin rash. His tics were constant. And I couldn't go to school anymore. It was a mix of shame, because the tics were perceived by everyone, and the neurological deterioration. He was already walking with less confidence, and writing was painful, he said.

We tried the GAPs diet, and integrative treatment, where they gave him DesBio deworming kits. Both, the worst decisions we have made. Today, I had a child in front of me who drooled, bit himself, ate ice all day, bit clothes until they made holes, and was so disconnected from everyone that anyone who didn't know him would come into the house and I wondered if he was autistic. His health was beyond my control, and my despair only increased.

Dozens of specialists were consulted, and all they told me was that my son was autistic., and that, most likely, had gone unnoticed by everyone. That this was level 1 autism.

July 2019

On July 2019, We decided to fly to California, and consult with a pediatrician who believed that treating children with similar regression with antivirals, diet and serotonin reuptake medications and others could help children with neuroinflammation. 

A NeuroSpect showed that my son's lateral lobes were hypoperfused. That is, little blood/oxygen passes through those areas. And his frontal lobe was hyperperfused (lots of blood activity). Hyperactive. I still remember seeing my son, moving, disconnected from reality, during two hours of consultation. 

The treatment attempt was a failure. We couldn't get the diet to be observed, as my son used to act anorexic whenever we restricted his food. Until that day, we do not know if the treatment failure was due to that, Or if he really needed something else.

Back to reality, I decided to pay for a new psychological evaluation, when COVID and quarantine hit, and my son was no longer going to school. ADOS II was applied and the psychologist diagnosed him, with her literal words, without a doubt, as autistic level I.

From that moment on, I was already convinced that this would be the case. But, Seeing him suffer with so many comorbidities was very difficult. He felt "hot needles" pricking his hands and feet at night, and saw a man eating a live dog at night. He couldn't calm down. Already, The stereotypes lasted for hours, every day, and our life had been limited to the three of us, alone in the house. He didn't agree to go out, he didn't eat well, he didn't sleep well, he didn't concentrate much more than a few minutes on anything. Lost between his flapping and jumping, headaches and stomachaches.

“THAT IS NOT AUTISM!”  I screamed, on a Sunday afternoon, while crying, seeing him suffer.

I decided that I was going to continue seeking help. It was when we decided to look for a pediatrician who said that treatment would cure tics and neuropsychiatric symptoms.

That lady, after listening to us, did a test from the Igenex laboratory, which came out with active infection, IgM, positive in the IFA method for a protozoa, a parasite, called Babesia. Also positive, with active infection, IgM, for a bacteria called Anaplasmosis and, finally, antibodies against the bacteria that causes what they call "Tick Borne Relapsing Fever." My son had been infected and had Lyme disease, probably for years, a big scare for everyone.

The Pediatrician was not a specialist and we soon consulted with a doctor who was dedicated to that. A very aggressive treatment. We'll start by attacking the protozoa, he said.

After a week of preparations, we gave him azithromycin. On the first day of Malarone, to attack the parasite, my son jumped without rest for a whole day. I was very scared and, crying, I told my husband that I no longer wanted to continue doing that treatment. 

If it weren't for my husband's strength, my son would not be recovered. He told me that we should move forward. That we trusted the doctor. So it was. 

The next morning, my son woke up calm and happy. As if he were cured of everything that bothered him. All. 

His recovery made us persevere and continue the treatment for 6 months. And we thought he was cured. Of everything. 

After about three months without medication, his symptoms slowly returned. It was then that my desperation made me return to his pediatrician, the same one who had found those infections, and beg him to help him. So it was.

The pediatrician diagnosed him with a specific deficiency of anti-polysaccharide antibodies, after his poor response to Pneumococcus, prescribed a treatment immunoglobulins.

First infusions with immunoglobulins

On the day you receive your first infusion, your search to turn on the lights in the house, and check water traps, closing doors, everything is gone. We no longer noticed those behaviors. 

Even with eventual throat infections, which, when the dose of his immunoglobulins was increased, completely disappeared.

His symptoms improved with each infusion and remained that way, until the next infusion. 

Today, we have been receiving monthly intravenous infusions for two years., in doses of almost 1 gr/kg, and my son, while receiving his infusions, no longer knows what it is like to feel headaches, stomach pains, hands and feet pains, or night terrors. His stereotypies calmed down; his tics too. He went back to school. He has friends. We go for a walk. He wrote again without pain; and enjoy life.

I am dedicated to helping families looking for answers. I know that not everything that looks like autism is autism, as described in the literature. 

And what is autism?

How to understand that this improves with treatments for infections and immunodeficiency? 

Some say that was never autism. Well, And why did tools developed for diagnosis, such as ADOS II, diagnose it? And what other condition makes you flap for hours, every day, and have your sensory system affected, too? 

And if that's autism, When did it start? When he cried, with colic, at birth? Years later? 

ANDWhy did he go so many years without a diagnosis?, even though so many specialists evaluated it? There were more than 40 professionals. 

¿Why were you diagnosed with Tourette Syndrome?If the tics went away with corticosteroid? In Tourette's, that doesn't happen.

¿Why label them with a syndrome that is also a beginning and an end?, since none of what helped my son is authorized treatment for autism?

I wish we could, one day, put autism aside, and look at them as sick. And making autism an initial diagnosis, which calls for much more than risperidone and ABA, as forms of treatment.

As Dr. Jennifer Franckovich, Pediatric Rheumatologist, said, it seems that autistic children improve autistic symptoms when treating autoimmune diseases.

¿Could it be that my son has something autoimmune?, and that is why IVIG, even in immunological doses, helps you so much? 

¿Could it be that the antibodies that IVIG delivers are the ones that manage to reach your central nervous system and defend it from Lyme infections?, since these microorganisms do not allow one's immune system to respond properly? 

All questions that time will answer… Yes, we continue looking for answers.