Our Journey to HADDS

Written by Margot Headings

June 17, 2026

Margot and Chris, parents of Addison, shared "Our Journey to HADDS" as part of the "Beyond the Diagnosis: Real Stories, Real Strength" at the Rady Children’s Health Orange County & UC Irvine Rare Disease Symposium & Family Conference earlier this year.

The Beginning

My pregnancy with Addison was mostly normal. She was breech from around 20 weeks, so we planned a C-section. But at my last OB appointment, just three days before her due date, they found I had low amniotic fluid and less decreased movement. That day, they decided it was time to deliver her.

Looking back, we now think this was the first sign of HADDS.

The birth went smoothly. Her APGAR scores were normal, even though she didn’t cry. Everything looked fine to the doctors, and we had a calm, quiet weekend in the hospital with our beautiful girl. Those days were the best of my life.

When she was about two months old, I started to get that sinking feeling that something was wrong. But I quickly doubted myself, thinking, You’re just a worried first-time mom. There’s no way anything is wrong

with her.

But there were signs. She wasn’t meeting milestones. She choked on breast milk and her own saliva. We were told it was probably silent reflux, but months later we learned she was actually aspirating on thin liquids. She had unusual body movements, which turned out to be stimming. Her legs were very stiff, but the rest of her body was weak and floppy. She was also very quiet. She probably cried only three times in her first few months. We called her our chill baby. Nothing seemed to upset her. She was always calm.

The Search for Answers

We had a wonderful pediatrician at Scripps Health in San Diego, though she has since retired. The first thing that worried us was Addison’s eyes. They kept crossing long after what’s considered normal. We were sent to ophthalmology, and they found that Addison had strabismus.

Then she began having these odd drooling episodes. She would get a strange look on her face and would stop swallowing her saliva, instead pushing it out of her mouth with her tongue. She looked uncomfortable and often tensed her body. We filmed a few of these episodes and sent them to our pediatrician. We did an EEG to rule out seizures, and she referred us to ENT and Gastro. Both specialists said the same thing when they watched the video: "Have you seen neurology?"

We got a swallow study, which confirmed she was aspirating. That was when we had to admit to ourselves that the strabismus, missed milestones, and aspiration weren’t just coincidences. They had to be connected. It was time to see neurology.

Addison’s brain MRI, EEG, chromosomal microarray, and Fragile X tests all came back normal. I was scared we would never get an answer. Living with so much uncertainty was overwhelming. I spent every free moment searching online for syndromes and disorders, comparing symptoms to Addison’s, and looking at photos of other patients for similarities. I was obsessed with finding the answer, but just as afraid of how serious it might be.

The Diagnosis

Our neurologist at Rady Children’s in San Diego, Dr. Sarah Wiegand, has truly been a lifesaver. At our first appointment, after introducing herself, she said, "I was looking through Addison's chart. Wow, you guys have been through a lot — how are you doing?"

Tears immediately formed in my eyes. I wanted to hug her. That one interaction made a profound difference in our journey. I felt safe, seen, and validated. She believed us. She shared our concerns, and she came out of the gate recommending Whole Genome Sequencing. When our insurance denied the request, she did a peer-to-peer review. She fought for us, and even though we didn't win that battle and ended up paying out-of-pocket, I am forever indebted to her.

On August 12, 2024, we received Addison's diagnosis of EBF3-related HADDS.

At first, I felt relief and excitement. We finally had our answer. The search was over, and now we could find others like us. We learned Addison was the third known case in San Diego. There was already a foundation and community, so we reached out that same day.

But that relief and excitement quickly turned into grief. It was real. This had really happened to us. I could no longer convince myself nothing was wrong, something I had done right up until her diagnosis. This was going to be our life, and I was scared I wouldn’t be strong enough.

Daily Life with HADDS

Since her HADDS diagnosis, Addison has also received a Level 2 ASD diagnosis and a hypotonic Cerebral Palsy diagnosis.

Addison has just begun to walk independently. She is non-verbal and uses AAC (Augmentative and Alternative Communication) and sign language to communicate. Her communication is still limited, and we’re starting to see some behavioral challenges because she gets frustrated when she can’t express herself.

Her aspiration has improved a lot thanks to VitalStim therapy at Rady’s. She can drink water now (yay!), though she still needs to be watched. Glasses and patching didn’t help her strabismus, so she had double eye muscle surgery in April. We knew this was likely, since it’s very common in kids with HADDS. The surgery went well and so far, her eyes look great.

In November, when she turned three, Addison finished the Early Start program with San Diego Regional Center and started a special preschool. Our school district, Carlsbad Unified, has a great program where half the students are typically developing "peer models" and the other half are special education students.

Addison thrived in her first year of school. She developed in ways we never expected. She loves being there, and it’s a joy to see her in that environment. She gets PT, OT, and speech therapy at school, and we continue ABA therapy at home.

Celebrating Milestones

Milestones are a big deal in our home, no matter how small they might seem to others. We feel so proud in these moments, and most importantly, she does too. These new skills bring her so much joy. She loves her growing independence.

We’re very lucky that all four grandparents live within 15 minutes of us. They are a huge support system, not just emotionally but also in the daily care of Addison. They give us breaks when we need them most. This journey has been deeply emotional for them too.

My husband Chris and I have had to become real experts on Addison. As her main caregiver, most of the responsibility falls on me, and it’s hard not to let it take over my whole identity. Balancing everything is a huge struggle, and I’m not sure I’ll ever fully master it. I’ve been living in fight-or-flight mode for three years, and even now that things have calmed down a bit, my body still can’t fully relax.

I suspect many of you reading this know exactly what that feels like.

What I’ve learned, and am still learning, is that different emotions can exist at the same time. Fear and hope. Exhaustion and excitement. Grief and joy. I celebrate the wins while still allowing myself to feel grief. I let both be there.

This isn't the life I thought we'd have.

But it is still so beautiful.

And she is my amazing little rare gem. 💙

Note from the HADDS Foundation:

One of the greatest strengths of the HADDS community is that no one has to navigate this journey alone. Whether you're looking for practical advice, shared experiences, or simply a place where others understand, there are many ways to stay connected.

• Follow Addison's Journey on Instagram for everyday moments, advocacy, and a firsthand look at life with HADDS.

• Join the EBF3-HADDS Foundation Facebook page for Foundation news, research updates, events, and community announcements.

• Connect with other families in the following Facebook groups:

  • Private HADDS Community – for individuals with HADDS and their immediate family members.

  • Public HADDS Community – open to anyone interested in learning more and connecting.

  • Private 10q26 Deletion Community – for individuals with 10q26 deletion syndrome and their immediate family members.

Wherever you are on your HADDS journey, we hope you'll join the conversation and become part of this supportive, global community.