Ella in the playroom at McMaster Children's Hospital

Rett Syndrome: a 1 in 10,000 diagnosis

Sabrina Millson works as a clinical researcher at McMaster Children’s Hospital (MCH). She knows more than most people about the many different illnesses and conditions that can affect children. But she had never heard of Rett Syndrome. Until her daughter was diagnosed.

A stall in her development

As a baby, little Ella developed typically, despite being a bit behind her peers. She responded to her parents’ gestures, smiled and made eye contact, and had a vocabulary of about 50 words. As she neared her third birthday, things changed.

“She stopped sleeping throughout the night and started having recurring tremors,” Sabrina, recalls. “Her behaviour changed dramatically.”

Ella was diagnosed with Autism Spectrum Disorder and Global Developmental Delay. Her symptoms mimicked early signs of these conditions. But Ella continued to regress, and it became very clear to Sabrina that something different was going on. After turning three, Ella lost all fine motor skills, and stopped walking and talking. Her parents rushed her to the emergency department at MCH.

A rare diagnosis: Rett Syndrome

A group of doctors reviewed Ella’s symptoms and ordered further tests. Dr. RamachandranNair, who specializes in epilepsy, determined Ella was having seizures. “Seeing her constellation of symptoms, we began to consider Rett Syndrome,” he says. Dr. Jennifer MacKenzie, a pediatrics genetics specialist, was called in to consult on Ella’s case. “Ella made good eye contact and had some repetitive hand wringing, both suggestive of Rett syndrome in a girl with Ella’s symptoms,” she says.” Genetic testing confirmed the diagnosis.

“It was absolutely devastating,” says Sabrina. “In my professional role, I am in the room when parents receive bad news and it’s absolutely heartbreaking, but being on the other side of that conversation was harder than I could have ever imagined.”

Rett Syndrome is caused by a mutation in the MECP2 gene. This gene helps to make a protein needed by the brain and nervous system. When the gene is mutated, it doesn’t create enough healthy protein to support normal brain function. Most cases include apparently normal development up to about 18 months, followed by a short pause in development, then a rapid loss of skills over a few years, then, typically, a plateau in symptoms. Rett Syndrome results in severe impairments, affecting almost every aspect a child’s life, including their ability to speak, walk, eat, sleep, and even breathe easily. Repetitive hand movements, like Ella’s, are a hallmark feature.

The syndrome occurs almost exclusively in girls and is very rare, affecting one in 10,000 girls under age twelve. Up to 90% of females with classic Rett Syndrome also experience seizures.

Caring for a child with a rare disease

“Caring for a child with a rare disease is very challenging,” says Sabrina. “Because few people know about Rett Syndrome, they don’t often understand it. There is a lot of unknowns, and it makes you feel alone.”

Sabrina says she has been able to find support online, and through her dedicated healthcare team at MCH. While there is no cure for Rett Syndrome, Ella sees a number of specialists to manage its effects, including pediatrician, Dr. Iman Shbash, neurosurgeon, Dr. Sheila Singh, ophthalmologist, Dr. Kourosh Sabri, orthopedic surgeon, Dr. Sarah Burrow, and Dr. RamachandranNair.

“staff are invested in children and that’s the best feeling in the world”

“We are fortunate to have a children’s hospital in our home town,” says Sabrina. “You know when you come here that staff are invested in children and that’s the best feeling in the world.”

Sabrina and her family are focused on helping Ella enjoy life. Their little girl loves swimming, socializing and playing outside. She has regained a few words, including mom and dad, and will soon begin learning to communicate using an eye gaze system. As the parent of a child with a rare disease, Sabrina tries to balance appreciation for her daughter’s individuality with the desire to raise awareness about Rett Syndrome. Above all, she wants people to see Ella as lively little girl who is unique not only because of her rare disease, but because she has the ability to teach us so much without saying a word.