Mothers are often encouraged to trust their instincts, especially regarding their children's health. But for Tiffany Young, getting others to take her concerns seriously proved challenging when her daughter began demonstrating unusual symptoms at 12 weeks old.
"Cece was a very sweet, chill baby," Young told Newsweek. "She laughed a lot and was so happy." However, by the time Cece was 3 months old, Young began to worry that her daughter was not hitting the expected developmental milestones.
"It seemed like she was in her own little world. She didn't respond to her name, and I even worried she might be deaf," Young said. Despite these concerns, medical tests consistently returned normal results. This led one of her friends to suspect that Young's worries were rooted in postpartum depression rather than a genuine health issue.
"She felt I had it so bad, it might be causing me to be delusional and diagnose my baby with a rare genetic disorder that she probably didn't have," Young said.
Understanding Angelman Syndrome
On August 7, actor Colin Farrell opened up about his son James' life with Angelman syndrome, a rare neurogenetic disorder that affects about 500,000 people worldwide. According to the Angelman Syndrome Foundation, this condition typically becomes apparent between 6 and 12 months of age, and it is often characterized by developmental delays, difficulties with walking and balance, gastrointestinal issues, seizures, and limited speech. It is common for people with Angelman syndrome to be misdiagnosed, as symptoms can resemble those of autism, cerebral palsy and Prader-Willi syndrome.
Early Symptoms and Diagnosis
Young, a journalist in San Diego, said that when Cece, whose real name is Charlotte, was about 6 months old, "She started hand flapping and making rocking motions."
"She also made humming noises and stuck her tongue out in ways that seemed neurological to me," Young continued, adding that as a first-time mother, she initially assumed these were typical behaviors in a developing baby.
However, Young noticed that Cece did not follow her with her eyes during games of peekaboo, and a family member even remarked that Cece didn't seem to recognize her mother.
"She couldn't sit independently, no babbling, and at an appointment, her head circumference was measured small," Young said.
When Cece was 10 months old, her doctor ordered an X-ray after noticing she was unable to bear weight on her legs. At this stage, Cece could sit up but struggled to do so on her own, and she could not crawl. Initially, Young felt relief when the doctor discovered a fracture in Cece's leg, thinking it explained the delays.
"I thought a broken leg was the whole reason she had all these delays and I could go get it fixed, and we would just move on with our lives," she said.
When a follow-up scan showed no further issues, Cece underwent a battery of tests to check for infectious diseases, hip dysplasia and other potential causes. The results all came back normal. As they were leaving the hospital, another doctor suggested that Cece see a geneticist.
"My heart sank. I didn't want to ask her what exactly it was that she saw, and I don't believe she could've answered me," Young said.
That night, Young spent hours researching online and came across Angelman syndrome, sometimes referred to as "happy puppet" or "happy baby" syndrome because of the characteristic joyful demeanor of affected children. "My heart dropped," Young said, adding that she knew immediately that this was the condition Cece had. "I felt sad and crazy at the same time," she continued.
Despite her growing certainty, when Young met with a geneticist, she was told that nothing about Cece's appearance suggested any abnormalities. The geneticist believed Cece simply needed more time to catch up. However, Young persisted, and in May 2021, five months later, the family returned and requested a specific genetic test. The test confirmed that Cece had Angelman syndrome.
Young's experience underscores the importance of parental intuition in the diagnostic process, especially when it comes to rare conditions such as Angelman syndrome.
Navigating Life With a Rare Disease
Now, almost five years later, Young, a single mother, has dedicated her life to caring for Cece, but it has not been without challenges. Lack of awareness about Angelman syndrome among the public and health care professionals has made it difficult for her to secure the necessary support. Young said she had to make a court appearance to increase her respite care from 30 hours per month to 120 hours.
She added: "When Cece has seizures that require us to go to the emergency room, doctors and medical professionals have either never heard of Angelman syndrome or have never seen a patient with it in real life. I feel very alone at times.
"I'm also dealing with service providers who tell me my child doesn't have the cognitive ability to learn new skills and make any significant gains in life, which is not true at all."
"Sometimes, in my day-to-day life, I feel like a robot who gets up, cooks food for my kid, cleans, maybe takes care of an errand, and then I become a chauffeur in the afternoon to take my daughter to her appointments. We are going somewhere every single day. I desperately need a break," Young continued.
"As a single mom and sole caregiver, I feel everything so much more because there is no one beside me experiencing all the things I'm experiencing. However, this has made me into the person I am today, which became a gift. It's a unique situation, which is why I started to post on TikTok in hopes I'd connect with others and not feel so alone," she said.
TikTok
Using the handle @encinitasmom, Young regularly shares content about her daughter, including videos of her defying the odds and learning how to walk and swim. Two years ago, Cece's diagnosis story went viral. It has received more than 3 million views.
"Mothers intuition.. I was called crazy when I had concerns about my son. Turned out I was right.. you're doing great mama. God bless you both," one viewer commented on the TikTok video.
Other users asked about the condition, while some said they had family members with Angelman syndrome.
"My baby brother has Angelman they are the most lovable happiest people ever," a user wrote. "I love that about him, nothing hurts him. Your baby is beautiful."
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