Parents: Linnéa & David
Year of birth: 2011
Hometown & country: Stockholm, Sweden
Atle was born in 2011 as our first child. The pregnancy was normal and full-term. He was however taken to the neonatal ward due to short breath and a hard time feeding. The doctors first thought it was due to one of his lungs not being fully developed, which later would be proven wrong. In Sweden, all babies have their eyes examined before they leave the maternity ward, but Atle did not open his eyes enough for the doctor to be able to perform the examination. Instead, they sent us to a specialist a couple of days later, who told us that our son had bilateral cataract and that surgery was scheduled at three weeks of age. However, at the operating table, the surgeon discovered he had microphtalmia, adhesions between cornea and iris, and bilateral coloboma, both in the fundus and the iris. He also had a somewhat cloudy cornea, which probably was mistaken for cataract. Our sons delayed gross motor development was explained with his bad eyesight and we were told by our son’s doctors to wait and see. At the same time, different chromosome tests were being performed but without finding any abnormalities. He was unable sit without support, nor crawl or open his hands, among other things. His speech was difficult to understand for people outside of the family, so he came up with a communication system of his own consisting of signs combined with directing his gaze to different objects. We also used pictures and photos and continues to talk and explain a lot to him, which we find is assisting our son in developing his speech.
In 2015, a full exome sequence was finally made and in April 2016 we received the answer: a mutation on the RAR-beta gene. Neither the geneticists, the neurologist nor we had ever heard of this and at first, he was wrongly diagnosed with a gain of function-variation. As many other parents to children with special needs, we googled a lot and found Dr. Michaud’s research. Neither of the subjects in his study had however the same location on the gene for the mutation as Atle, and some of the phenotypes was different as well. Atle has a loss of function mutation. He has no Chiari malformation or intellectual development disorder, but he is spastic to an increasing extent, partly vision impaired but manages without glasses. He is sensitive to strong light, possibly due to the eye surgery that was performed. He also has unvoluntary movements and a partial paresis on his diaphragm. We have been trying different treatments, including MNRI (short for Masgutova Neurosensorimotor Reflex Integration) and we perceive positive effects from our sessions, however it is difficult to attribute any particular treatment to our son’s development.
Today, Atle is a humorous, stubborn, considerate, and bright nine-year-old. He goes to a regular school with help of a personal assistant. He speaks good Swedish and English and anyone can understand his speech nowadays, given they are patient with his spastic-induced stutter. He can count in various languages, something he has taught himself on through children’s mathematics applications on his tablet. He is still not able to sit or stand on his own but moves with a manual wheelchair as well as an electrical one on his own. His gross motor skills are still underdeveloped. After a surgery last year, he can however stand shorter periods of time with support from someone else. He loves recycling waste (Swedes goes to great lengths to recycle waste), buses, his tablet, and his little brother who was born earlier this year.