Last week, I shared the early signs (pregnancy through 6-months) that made my momma instincts fire hot red flags about Cami’s health. Yet, it wasn’t until Cami was 15-months old before we were sitting in front of a genetic counselor hearing “It’s Angelman Syndrome.”
Everyone’s path to diagnosis is different, but for us it was an emotional roller coaster of hopeful theories debunked by harsh realities.
Theory #1: She’s 8-weeks behind.
Cami’s first 8-weeks of life were ROUGH. She was tense, agitated, had horrible belly problems, and rarely slept. By 4-months, I began questioning delays but thought her first 8-weeks were so stressful that she didn’t have the capacity to develop normally. She was just 8-weeks behind! The theory seemed to stick with others, so I went with it. At her 6-month appointment, to my disappointment, her new pediatrician politely disagreed and pointed me towards Early Intervention.
Theory #2: It’s just hypotonia.
August 2018, my husband and I walked into Cami’s Early Intervention assessment. We were greeted with a team of lovely therapists who spent about 2-hours testing Cami’s skills and asking what felt like hundreds of questions about how she moves, communicates, socializes, plays, sleeps, and eats.
The Result: Cami’s adaptive and social skills seemed strong. Her gross motor, fine motor, and communication skills were delayed. There was concern for her cognitive development, but cognition is hard to test without motor and communication skills.
I spent the following weekend in what I now refer to as a “Google Spiral of Disaster.” I began worrying Cami may have Cerebral Palsy, a common misidagnosis for Angelman Syndrome because of similar symptoms including improper muscle tone, poor coordination, difficulties with gross and fine motor skills, and more. The moment doctors offices opened the following week, I demanded a referral to a neurologist.
In September 2018, Cami’s first neurologist completed his physical exam and brought me incredible relief when he shared that he did not see any evidence of cerebral palsy, muscular dystrophy, or other similar diseases. He did, however, diagnose her with something:
The Result: “Cerebral Hypotonia” which basically means that something connected to her nervous system is causing decreased muscle tone. Hypotonia is typically a “symptom” of more than 500 genetic disorders. When a root cause cannot be found, it may be considered “congenital hypotonia.” There is no cure for hypotonia, but it can be supported with therapies.
At this point, her neurologist assures me she shows no physical signs for a syndrome, that we should proceed with therapies, and we should expect a mildly delayed developmental chart - no big deal!
Theory #3: She’ll be sitting by 12-months.
Cami’s neurologist gave me a new milestone expectation - she should be sitting by 12-months. So, in September 2018, Cami began weekly physical therapy. Initially, her physical therapy focused on building strength through head control and belly time and focusing on sensory play.
In early December, Cami was 10-months and showing improvements but still not sitting independently so we added weekly occupational therapy as well.
Theory #4: Something is hurting her.
For months, I worried about a curve in Cami’s upper back. In a sitting position, she seemed uncomfortable lifting her head and in belly time - forget it! She screamed as if she was in pain and could barely turn her head side to side let alone lift it off the floor.
Around the holidays (almost 11-months) I hit a wall and decided I would not continue to put her through physical therapy until I knew nothing was causing her pain. We added a Rehab Specialist to the team and Cami had her first x-ray. The Result: Normal, the curve in her back is more likely associated with low muscle tone and muscle weakness.
Theory #5: Expecting a normal MRI.
Because Cami still wasn’t sitting independently at 12-months as the neurologist expected, we scheduled an MRI fully expecting normal results.
The Result: Slightly thin white matter. White matter is tissue in the brain composed of nerve fibers. A simple way to think about it: grey matter is the neurons in the brain and white matter are the fibers that move those neurons around. This helped explain the hypotonia and delays, but there was still no answer as to why this was happening.
Her neurologist assures me that while we hope for a normal MRI, this is the “best” version of an abnormal MRI we could expect.
Theory #6: She’s not having seizures.
The day after Christmas, Cami spiked her first fever. While in the urgent care lobby, Cami was terribly tired and desperate to fall asleep. You know the feeling that you’re falling from a tree right as you’re falling asleep? Her little body kept startling like that every time she was on the brink of sleep. I began questioning seizures. The urgent care doctor agreed with me - she was having seizures, but not typical febrile seizures. He immediately sent us to the ER by ambulance. In January 2019, Cami had a 1-hour EEG. The Result: Normal, no sign of seizures.
Theory #7: Sitting independently is hard work for a kid with low muscle tone.
In February 2019 at 13-months old, Cami does it! She’s sitting independently! Unfortunately, within days, I began noticing strange behavior that made me think she was having seizures more regularly. Sometimes it was a subtle eye roll, and other times she was falling from her seated position. It looked like this:
The therapy team and her neurologist weren’t convinced it was seizure activity. Instead, they questioned if 1) her muscles were tiring quickly when she sat for long periods, or 2) she was responding to acid reflux sensations that gravity is now keeping down more often.
Theory #8: Expecting normal genetic results.
Despite the theories, I was convinced Cami was having seizures and with the abnormal MRI results (thin white matter), Cami’s neurologist agreed to place an order for a genetic test. Her first genetic test was as simple blood draw called a Microarray. This test is used to detect thousands of genes.
To be honest, her doctor was so confident that she showed no signs for a syndrome that I wasn’t at all worried and even forgot to follow-up on test results. At an appointment with a different provider, the doctor says “so, I didn’t quite understand the results of the genetic test, what did the neurologist say?”
At that moment, my heart stopped and my stomach dropped - something wasn’t right. The Result: (No spoiler alert here!) Cami is missing a section of her 15th chromosome.
This was the moment that changed our family.
This was the moment that started giving us answers we never wanted and didn’t know existed.
This was the moment where theories became reality and where hope became heartbreak.
More to come next week!
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