When My Son’s Life-Threatening Disease was Misdiagnosed as Autism

When My Son’s Life-Threatening Disease was Misdiagnosed as Autism December 26, 2017

Over the course of my child’s life, I have been an advocate for his health and development. My son is a blend of medically fragile with developmental delays. As he grew his processing delays increased and his social skills deteriorated. In May of 2017, he was officially diagnosed with Autism Spectrum Disorder. When we received the diagnosis, I remember feeling a sense of relief with a tinge of doubt. While he fit the description of Autism on paper and clinical presentation, there were aspects of his “Autism” that just didn’t fit the spectrum.

Over the course of 4 years, I watched him lose skills in his development. Therapists chalked it up to “Autism Regression.” He had once been a good eater. He would try just about anything, touch all kinds of foods, and would eat with enthusiasm. Then he started to vomit, choke and stopped wanting to try new foods. We were told his feeding issues were behavioral in nature. His oral skills deteriorated, and he was unable to chew most foods. When he started to lose weight, they labeled him “Failure to Thrive,” and he was given a feeding tube. I knew there was more to it than behavior but I didn’t know WHAT it was at the time.

He had been verbal at age one, but by age 18 months he had lost all oral skills. He was given a diagnosis of Apraxia of Speech. His fine and gross motor skills were poor and well behind his same-aged peers. Neurologists told us he likely had Global Dyspraxia a common co-morbid diagnosis with Autism Spectrum Disorder.

He became increasingly irritated by noise and sound, and he became resistant almost violent to being touched in any capacity. We were told that he had Sensory Processing Disorder. Initially this made sense, but no amount of therapy seemed to improve his seeking or avoiding behaviors.

In the midst of all of these “behaviors” or “developmental delays”, his health was also starting to decline. He was born without a pituitary gland, and he had a complicated medical background. However, over the course of four years, his health slowly decreased, and there were times I honestly felt like I was watching him die.

We added doctors to our lists of specialists. We grew from having a pediatrician to seeing more than 12 doctors across numerous specialties. We added Neurology, Neurosurgery, Gastroenterology, Cardiology, Genetics, Endocrinologyogy, Pulmonology, Palliative Care, Complex Care, ENT, and Developmental Pediatrics. Our days were spent driving from one clinic to the next, having labs done, and doing various tests to diagnose various diseases.

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My house started to look more like a hospital than a home. We had IV poles, feeding pumps, feeding bags, Feeding tube formula, syringes, medications, nebulizers, pulse oximeters, stethoscopes, and nurses became a staple in our home.

His social skills deteriorated. He at one point had been engaged with the world, eager and interested in people around him, and I watched him become a shadow of his former self.  His mornings were spent laying on the floor, complaining of fatigue and pain, and uninterested in playing with toys.

We had been followed by a neurosurgeon for more than two years monitoring a Chiari Malformation Type 1 and Ventriculomegaly which was thought to be benign in nature. After we met with other members of his medical team, we all agreed that we needed to revisit the neurosurgeon to discuss his symptoms.

As we sat down with his surgeon, I outlined a list of symptoms:

Headaches

Fatigue

Nausea

Gagging

Retching

Back Pain

Neuropathy in his hands and feet

Pain in his legs and arms

Dysautonomia

Sensitive Gag Reflex

Lost interest in eating

Irritability

Difficulty sleeping

His surgeon and I couldn’t seem to agree on the root cause of his symptoms. After our initial visit, she sent us off to numerous doctors to go over symptoms. We needed to rule out all other possibilities before she would consider brain surgery. When we completed her list of appointments, we met her back in our office and discussed our next steps. We agreed we needed to check for high pressure in his brain.

We scheduled a surgery for that following Friday. A plan was made to measure pressure, check for symptoms, and we discussed the possibility of a shunt being placed in his ventricles. The day of surgery arrived, and we were nervous but hopeful. At no time during this process did I even consider, that hydrocephalus could be the root cause for his developmental and social delays.

On the second day in the hospital, after an External Ventricular Drain was placed in his brain, it was clear he was suffering from high pressure. His team came into the room, and we were given a pamphlet on Hydrocephalus and discussed the shunt. It was then I googled symptoms of hydrocephalus and stumbled upon the list of learning disabilities and social deficits of children with Hydrocephalus. I remember reading through the list, and my mouth dropped wide open:

Children perseverate or repeat themselves over and over. Sometimes they exhibit echolalia.

Children can be hyperverbal and have large vocabularies, talk non-stop, and ramble on and on.

Children can have poor eye contact.

Children can have difficulty reading non-verbal cues, gestures, or understanding emotions.

Motor skills in walking, talking and eye-hand coordination are delayed.

They are literal and have a difficult time picking up tone and sarcasm.

They can have incredible memory with no context of understanding what they know.

I could not believe what I was reading. My son was not Autistic at all. Hydrocephalus was not only causing his health to decline slowly, but it had also impaired his brain so much that he had been diagnosed with Autism by mistake.

A massive wave of emotion came over me, and I tried to make sense of what I was reading. Everything I thought I had known about my child was not true. He wasn’t dealing with neuro differences – he was dealing with high pressure and brain injury. My entire life shattered at that moment. I thought I was an “Autism Mom” – and I had worn that badge proudly. Now I was a parent of a child with Hydrocephalus, and high pressure and brain injury were causing my son to appear Autistic. I lost a community I had grown to love and entered a world where I honestly knew nothing.

We were doing all this therapy that never seemed to work. I was told to stick with it because he would eventually “get it.” In that moment, I realized why none of it worked. No amount of therapy was going to fix his ability to learn. The only fix was surgery.

I thought back to all the times I embraced the “there is no cure” for Autism. I thought back to all the times I was critical of moms talking about their kids “coming off the spectrum.” It hit me like a ton of bricks. He was misdiagnosed as Autistic, was not on the spectrum, and came off the spectrum with a single surgery to his brain.

My mind raced thinking of all the parents that might have gone through this same situation. We had been given a clinical diagnosis of symptoms, but my son had a medical reason causing those symptoms. After his surgery, the changes in his skills were profound and rapid.

My son went from making no eye contact to sustained eye contact with every person.

He started to ask questions about the world.

He was able to have sustained and appropriate social interaction and conversations with people.

His coordination and clumsiness seemed to disappear overnight.

His imaginary skills exploded.

He wanted to eat more food by mouth (but remained g-tube dependent)

His memory and retention improved

He was engaged with others

He no longer complained of pain

He slept through the night

He played all the time versus laying on the floor exhausted.

He was a different child.  He had been living with undiagnosed hydrocephalus and had been living with high pressure for most of his life. It had impacted every aspect of our lives and had stolen skills, health, and energy from him daily. The high pressure had damaged his autonomic system and caused permanent nerve damage.

My son had been misdiagnosed with Autism. His medical symptoms were classified as developmental delays. The only reason we ended up with his diagnosis of Hydrocephalus was that I refused to give in and watch him die. I refused to believe that his regression and lack of development was rooted in an unknown cause. I advocated for him fiercely, got into arguments with doctors, and at the end was told it was my fight that made them listen. My child was never on the spectrum. My child was suffering from a debilitating disease that would require a lifetime of surgery and maintenance, but we had finally gotten to the root of his decline. For some children, medical reasons do cause clinical symptoms that appear to be Autism. I never in a million years thought my child would be one of them. Here we are now, off the spectrum a place we never really should have been, to begin with, had his disease been discovered sooner.

Tell us:

Has your child ever been diagnosed with Autism and then it was discovered to something else?

 

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  • Cathryn

    As a home health RN, I took care of a boy that was felt to have ‘become’ autistic at age 6, and was diagnosed with multiple learning disabilities. It was until age 11 that he was properly diagnosed with a fatal type of leukodystrophy. It was too late for him to have a chance at a cure. He died at age 11. It was an honor to care for him.

  • Aliyahsmom

    Thank you for sharing your story. Misdiagnosis is so hurtful. Thanks for reminding parents that doctors don’t know their children best – parents do. Wishing health and healing for you and your son.

  • Nikki

    My son was born with the vein of galan and had 3 embolisations before his 1st birthday. At 2.5yrs he was diagnosed with autism. We’ve tried most therapies over the years without many gains. Since digging further a recent MRI scan revealed my son had a stroke after his first embolisations, something we were never aware off. His also having enough discharges in his brain his neuro want to treat with an AED med. we were discharged from gosh after his last exit embolisations at 11months. Since discovering his stroke I contacted gosh as I wanted answers, we met recently and I was told my son had his stroke shortly after his first embolisation and that all children that have been treated for vog at gosh has an additional diagnosis of autism. I questioned this and they agreed it was due to the damage to the brain that caused similar behaviours which fall under the autism umbrella.
    I will continue to research and do everything possibly can to help my son, unfortunately he is very affected by his embolisations and I believe his in pain a lot which in turn display as behaviours. But until his happy and painfree I continue my battle x