Our Path to Diagnosis Part I: Early Signs

If you Google “Early Signs for Angelman Syndrome,” you’ll find this:

For Cami, we didn’t recognize these symptoms until she was 6-months old. But, I knew when I was pregnant that something wasn’t quite right.

I began worrying about Cami’s health at her 20-week ultrasound. Until her 6-month appointment, my concerns were met with versions of “Don’t Worry!”

I understand why her doctors weren’t concerned. I had a healthy pregnancy, it was a healthy birth, Cami’s vitals were strong, and she was putting on weight well. Several people have asked, “So, how did you know!?”

Here is what led me to research, ask questions, and advocate (hard) for answers:

#1: Intuition

“Mom Instinct” is REAL! Trust it!

At Cami’s 20-week ultrasound, I remember asking, “Is she moving enough?” To my untrained eye, she seemed strangely still compared to my first child’s ultrasound.

She’s probably just a calm and relaxed baby, lucky you!

At every following appointment, they asked if I could feel the baby move. I always answered with hesitancy - yes, but not as I would expect. It wasn’t until 32 weeks that she really began moving (remember, this was my 2nd baby). When she did, it was with intense, strong movements you could literally see through my belly.

This may be normal for some, but throughout my pregnancy something about her movement gave me a nagging feeling that something wasn’t quite right.

#2: A Stressful Start

Cami’s first few weeks of life were ROUGH. She seemed scared, tense, and distressed. Her fists were often tightly crunched and she rarely relaxed.

She didn’t sleep well. I broke every safe sleep rule I knew to catch only 45 minutes of zzz’s some nights. She didn’t focus on a particular toy or person for long - it was as if she was searching the room for something to bring her relief.

She had reflux and horrible belly problems. She cried… all the time. One of the hardest parts, for me, was that she seemed uncomfortable with being touched - I couldn’t soothe her.

Some babies are just fussy, it may be colic.

At 8 weeks, we learned she had a lip and tongue tie. We saw incredible improvements after her revisions (more on this another day!) and were hopeful this was the answer to our concerns, but the reflux, GI issues, and sensory sensitivity continued.

Exotropia is a form of strabismus (eye misalignment) in which one or both of the eyes turn outward.

#3: Eye Alignment Issues

At Cami’s 3-month appointment, her pediatrician expressed concerns that her eyes still weren’t aligning well and recommended we visit a specialist. A few weeks later, she was diagnosed with exotropia, an early sign of muscle weakness.

#4: Initial Delays

At 3-months, Cami was doing age-appropriate things - but she wasn’t doing them well. She HATED belly time (is there a stronger word?), she couldn’t lift her head well, she didn’t coo as much as you’d expect, and the way she engaged with toys was strange… if she was laying on her back she could hold a toy, but if she was upright her hands couldn’t grasp anything. In hindsight, these were early signs of communication and motor delays.

Every baby develops at their own pace.

I’ve connected with several other AS mommas on this and learned my experience is not unique. Many knew something wasn’t quite right well before they felt heard by their doctors. We don't all share the exact same list of “early signs,” but there was much overlap in a general set of symptoms:

• Early signs of hypotonia (low muscle tone) or muscle weakness such as a poor suck reflex, feeding issues, eye alignment problems, head control, and motor issues

• Early signs of GI issues such as reflux, vomiting, and constipation

• Early signs of sensory or reflex issues

• Others included early signs such as suspected albinism, sleeping issues, and extreme temperaments such as constant fussiness or no fussiness
  

LESSON LEARNED: Trust your gut! If you are worried about your baby’s health, ask questions and advocate for yourself and your family until you feel heard and are receiving the support you need.