Latest news with #XLID98Foundation

Ottawa Citizen

Research yields hope a rare disorder can be treated, leaving Brockville mom optimistic

There are early signs that gene therapy can treat a rare neurodevelopmental condition, leaving a Brockville-area mother excited about the possibilities for her son. Article content 'It's more than good news,' said Kirsti Bakker, founder and president of the XLID98 Foundation, which hosted its first online symposium over the weekend. Article content Article content Hosted in Mississauga on Saturday, the eight-hour virtual conference brought together researchers, clinicians, and families affected by XLID98, an extremely rare neurodevelopmental condition. Article content Article content And its highlights included indications – albeit very preliminary – that gene therapy can prevent the condition's symptoms. Article content 'There is hope now,' Dr. Jagdeep Walia, a clinical geneticist and professor at Queen's University, said in an interview on Wednesday. Article content Walia is also the doctor dealing with Liam Bakker, 28, Mike and Kirsti Bakker's son, who was born with a rare mutation of an X-linked gene. The condition, once known as KIAA2022 but since redesignated by medical authorities as XLID98, stands for X (chromosome) Linked Intellectual Disability, the 98th of which has been categorized. Article content XLID98 has left Liam nonverbal, autistic, and physically disabled as well. While many XLID98 patients have suffered multiple seizures, Liam has only suffered two in his life so far. Article content Article content Over the years, the Brockville-area parents and their other children have put in the considerable effort required to allow Liam to live outside a group home, attend school and receive care at home. Liam currently lives in a granny suite in the family's home. Article content 'He's living and loving life, but I can tell you that it's always a struggle to maintain a full rotation of workers' who help support him, said Kirsti Bakker. Article content A 2015 article in The Recorder and Times about the family's struggle was discovered online by a family in the Netherlands, leading to a friendship with the Bakkers. From there, over the ensuing decade, the online community of XLID98 families has grown considerably. Article content As of earlier this week, Kirsti Bakker said, there were 296 people identified as having the condition, 178 females and 118 males, in 38 countries.