After Chloe Storer from Derbyshire, UK, took a selfie with her son Jake Meikle, she noticed that the right side of his face looked limp and partially paralyzed. Worried that he might be having a stroke, she rushed him to the hospital, where he was diagnosed with an incredibly rare genetic condition.
Jake apparently was suffering from microduplication 1q21.1, a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally duplicated. The condition, which has only been identified in 200 patients worldwide, can cause developmental delays and intellectual disabilities.
Those affected with microduplication 1q21.1 may exhibit characteristics of autism spectrum disorder, such as impaired communication and socialization skills, and an increased risk of attention deficit hyperactivity disorder and other behavioral problems. Some patients can also develop psychiatric disorders like schizophrenia, mood disorders like anxiety or depression, or even epilepsy.
Storer, 34, who had taken her son for regular appointments after he was born five weeks early, says that Jake's development has been hindered by the condition. Now, 16 months old, he has only just started walking. "He sometimes struggles eating, and when he smiles, I notice his face — it's almost like it could be a facial nerve."
Given the fact that the condition is so rare, Storer has not found much support within the community, therefore, she has decided to form her own support group for children with chromosomal disorders. "I want Jake to find someone like him; most groups are five years and over, and I just wanted to find someone in my situation," she told Caters. "It would be a lifeline — there would be someone to empathize rather than sympathize."
Despite having difficulty in finding others who share the same concerns, Storer has received some guidance from a local organization. "The most help I've had has been through the charity UNIQUE who can answer some of my questions, and provide information and leaflets,” Storer says.
Although Jake has struggled, Storer says he is happy and unwavering in his determination. "He wants to do more, and he even exceeds what I expect from him. Nothing fazes him or me anymore," she says.
Unique, a registered charity in the UK, supports, informs and connects families and individuals affected by rare chromosome disorder. Founded by Edna Knight MBE in 1984 as the Trisomy 9 Support Group, group membership now includes 16,500 families, which represent over 18,500 individuals with a rare chromosome disorder or an autosomal dominant single gene disorder.
The organization has members in 100 countries worldwide with about 130 to 150 new families joining each month. Unique works to raise awareness of rare chromosome disorders or autosomal dominant single gene disorders and to secure grants to support families affected by these conditions.