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Autism and Sanfilippo Syndrome: a Heart-Wrenching Journey to Diagnosis

January 16, 2024

Marisa DiChiacchio shares the story of her son Connor’s Sanfilippo syndrome diagnosis in an effort to raise awareness of this serious condition, which often masks itself as autism.

Autism and Sanfilippo Syndrome: a Heart-Wrenching Journey to Diagnosis

My son Connor had autism. Actually, he still does, but we found out something else from the doctors.  Something shocking and unexpected. I hope that sharing my story might help other parents looking for answers for their child.

When I found out I was having a boy, my first child, I was ecstatic! In June 2008, I gave birth to a bright-eyed beautiful baby. Connor was our first child and the first boy in the family; the first grandchild for my parents. Needless to say, everyone was thrilled and excited when he arrived. Very early on, he was a totally typical child. He hit all his milestones. But, before age two, we started to see that his communication skills were a bit delayed. The doctor diagnosed the speech delay and, looking back, that was the first red flag.

Slowly but surely, we also began noticing a social delay. These concerns also led to occupational therapy and physical therapy. At this point, my mother’s intuition kicked in. I started to believe something else, something larger, must be going on that’s causing this in Connor. So I kept pushing for answers.

Receiving Connor’s autism diagnosis

But even by age 3.5 years old, the developmental pediatricians couldn’t come to a diagnosis for Connor.  It wasn’t until age five that Connor received the autism diagnosis. While Connor was already in most of the therapies he needed, having an official diagnosis did open the door for additional school therapies. It also introduced us to the wonderful autism community, with resources and parent support. We had the answer: autism. (We thought)…

The diagnosis did cause me to wonder if some of the hopes I had for Connor’s future were gone. The hopes and dreams like any typical mom. Would I see him graduate college and go on to get a job he loved? Would I see him walk down the aisle, and have a wife and family? Would I have a grandchild to hold?  As the years went on, I realized this might not be the case for Connor. I realized he might be living with me forever. And I was fine with that, but it’s not what you envision for your child.

We knew the autism spectrum had a wide variety of impact, from black to white. We didn’t know where Connor would be, but we forged ahead thinking things would get better and he’d make a turnaround.  To be honest, it was really hard to think about the future, so I didn’t. I didn’t know what that future held. I didn’t even know what tomorrow would be like. I was just living day to day and doing everything I could to keep Connor as happy and healthy as possible.

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New red flags appearing

With the autism diagnosis, we and the doctors really thought we had finally “hit the nail on the head”, and we had certainly come to accept this…we even got comfortable with it. But in third grade, during his annual IEP and some IQ testing through school, new red flags appeared. Connor went from having an IQ of 100 to just 60 in a couple of years. Connor had regressed intellectually. This news floored us. We had no idea. Admittedly, we hadn’t really thought of his IQ as going up, but we thought he was more on a plateau. Trying to figure out why this was happening led us back to genetics. We originally went to genetics when he was three years old, but nothing had been found in the screening they conducted. 

Now, many years later, we were headed back. We thought this was just going to be another dead end.  We had blood and urine testing, and then enzyme testing. Two weeks later we got the phone call that turned our world upside down: A diagnosis of Sanfilippo syndrome. I had no idea what they were talking about. I was trying to Google it as the doctor was sharing the news on the phone.

Receiving Connor’s Sanfilippo syndrome diagnosis

It was worse than we could ever have imagined. Sanfilippo syndrome is a fatal and rapidly degenerative brain disease in children. And the children usually pass away in their teens. No cure, no treatment. This couldn’t be. Not my baby boy. Not Connor. He has autism. There must be a mistake! But there wasn’t, and everything in me collapsed. I dropped the phone and sank to the floor in tears. 

I’ve since learned that many children with Sanfilippo syndrome first receive a diagnosis of autism. The genetic disease Sanfilippo is what causes the “autistic” symptoms. Sanfilippo is the underlying reason.

Some of the common symptoms of Sanfilippo are:

  •   respiratory issues at birth
  •   speech/developmental delay
  •   hearing loss
  •   large head size
  •   recurrent ear/sinus infections
  •   thick eyebrows
  •   chronic loose stool
  •   hyperactivity
  •   poor sleep
  •   regression

In researching Sanfilippo, I began to wonder if other parents may be looking for answers beyond a diagnosis of autism. An answer to why, and if genetics is involved. In the case of Sanfilippo, the disease hides sometimes for years and years before this root cause is discovered. All the while, Sanfilippo is slowly clogging the child’s brain and body. Sanfilippo is a storage disease, meaning the child is missing an enzyme to break down natural cellular waste material. This toxic waste builds up, primarily in the brain, and begins shutting down every single one of the child’s critical life functions.

Coming to terms with Connor’s degenerative condition

Sanfilippo is often likened to being like late-stage Alzheimer’s, only in children. In the coming years, my Connor will lose his ability to talk and say, “I love you.” He will lose the ability to feed himself and even to swallow. He will lose all mobility, experience seizures, and endure incredible suffering before the end. Even writing these words is heart-wrenching for me. This is nothing a parent ever wants to hear about. Let alone be their reality. No parent and no child should have to go through this.

Connor is 12 years old now. I look at him and, to me, he is the same boy: beautiful, smart, funny, and full of life. Knowing this new diagnosis of Sanfilippo, I can now fight for him. We have time to fight now before things get very bad for him. His speech is already not as clear as it once was, and it’s frightening. And now his loving younger brother Keenan knows he has Sanfilippo. Keenan is just 10 and I don’t want him to have to watch his big brother go through all these terrible things. 

I’ve connected with the Sanfilippo community.  I’ve already seen too many children lose their battle and die from Sanfilippo. It seems every week we hear of another, and that’s just simply not right. 

A reason for hope – can you help?

Sanfilippo syndrome currently has no cure or treatment, but we do have reason to have real HOPE. Researchers think they’ve found a way to stop the disease in its tracks with gene therapy. The problem is that millions in funding are needed to conduct a clinical trial for children with Sanfilippo Type C (Connor’s type).  We are working with Cure Sanfilippo Foundation to fund the clinical trial and launched a very personal three-minute video and campaign called “Save Connor” at www.SaveConnor.com. Our goal is to raise the $3 million needed to get the clinical trial up and running. This is literally Connor’s only chance at life, and this can happen.

I wonder if the autism community would help me by sharing this article. This would not only help our efforts in spreading awareness for this genetic disease, Sanfilippo syndrome, but also might empower other parents who suspect there may be answers that lie beyond autism.

I am thankful to the autism community for letting me share my story.

To learn more about Sanfilippo syndrome, including a complete list of common symptoms and how to get tested, go to https://curesanfilippofoundation.org/what-is-sanfilippo/.

Photos by Taproot Photography.

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