Mille’s Secret World: Living with Rett Syndrome
9-year-old Mille has Rett syndrome. A rare, congenital developmental brain disorder that cannot be cured. In the documentary 'Mille's Secret World' we follow Mille and her mother Susanne Byrialsen, for whom her daughter's diagnosis has turned everything upside down.
As a baby girl, Mille looked like every other healthy baby. Babbling and attentive, smiling and playful. She seemed less physical and less lively than her older brother, but Susanne Byrialsen and her husband had written it off thinking; “well, kids are different."
Still, something was nagging Susanne: Mille wasn’t able to get up on her feet, and she did not crawl. Mille and Susanne saw a pediatrician, who after careful examination came to the conclusion that perhaps Mille was a little behind her age, but that everything seemed to be alright.
Nevertheless, Mille was referred to the Children's department at Aalborg Hospital – just to make sure.
At that time, Mille already had trouble sleeping, she would have cold hands and she wasn’t making progress verbally. By the end of 2013, Mille suddenly started clapping involuntarily while wringing her hands. This was a turning point for the family, as Susanne Byrialsen suddenly recognized the symptoms from an internet forum for relatives of patients with Rett syndrome.
Soon after, Mille was diagnosed.
The grief and shock of the bad news struck the family like lightning. But as years have gone by, it turns out that life with Rett syndrome also has it positive sides: Mille is eager to learn and experience life, she laughs and smiles with her eyes, she gets help to cope with everyday life and she has learned to answer and communicate via a special computer device. She goes to school, and she really likes horseback riding.
It all helps to think about when the difficult thoughts and big questions wash over Susanne and the rest of Mille’s family.
Documentary: Mille’s Secret World
Pioneering work on Rett syndrome
In 2020, The Brain Prize was awarded to Professor Huda Zoghbi and Sir Adrian Bird for their fundamental and pioneering work on mapping the genetics of Rett syndrome, establishing the importance of epigenetic regulation in both brain development and the maintenance of normal adult brain function, whilst also pointing to novel opportunities for treatment of this and other neurodevelopmental disorders.
More about The Brain Prize 2020 and Rett syndrome:
They have mapped Rett syndrome, a rare neurological disorder that primarily affects girls during their early childhood. Their research...
About Rett syndrome
Rett syndrome is a rare, congenital neurological developmental disorder that primarily affects girls, since males typically die during pregnancy. In the rare cases in which boys survive, they are usually more seriously affected by the disorder than girls.
The syndrome was first described by Austrian doctor Andreas Rett in 1966, and almost simultaneously Swedish Dr. Bengt Hagberg discovered the disease in his patients, and with his scientific publication on the discovery, he named the syndrome after Rett. But the syndrome was not widely known until 1983 when the scientific journal Annals of Neurology published an article on the disorder. Shortly after this, Huda Zoghbi diagnosed her first Rett patient, a five-year-old girl, at Texas Children’s Hospital.
Rett syndrome is caused by a mutation in the MECP2 gene. The disorder results, to varying degrees, in mental and physical disability. During the first years of their lives, the children seem to develop normally, although they are often described as ‘easy and quiet’. However, once they reach the age of one to two, their development stagnates. Among other things, they begin to show signs of autism and to make involuntary movements with their hands. The condition eventually stabilises and the child can then slowly begin to develop but will remain developmentally disabled for the rest of its life.
Patients also often have trouble breathing and sleeping and may suffer from epilepsy and scoliosis. Around 50% of sufferers are unable to walk.
Rett syndrome is an extremely rare disorder. Only two or three girls a year are born with the syndrome in Denmark, and Danish experts know of 118 girls or women, and three boys or men, living with the syndrome today.
In Denmark, everyone with Rett syndrome is treated at the Centre for Rett Syndrome at the Department of Paediatrics and Adolescent Medicine, Juliane Marie Centre, Rigshospitalet.