An Ajax, Ont., family is, whose daughter has CHARGE syndrome, is looking to shine a light on the rare disorder and what families are going through.
Three-year-old Elena Foster is her parents’ world, but due to the syndrome, navigating that world has been tough.
For those affected, CHARGE syndrome — the name of which is an acronym referring to its various effects — presents a range of challenges. “She is deafblind, she cannot taste or smell anything, she cannot walk unassisted, she has swallowing difficulties, breathing difficulties and the list really goes on,” said Andreea Marin, Elena’s mother.
Elena has severe CHARGE syndrome and was diagnosed with the rare disorder shortly after birth.
“Every single task is 1,000 times more challenging than I expected. Sometimes we even forget that we’re mommy and daddy and we’re focused so much on being her physical therapist, being her occupational therapist, being an intervener for her,” said Marin.
Elena discovers the world through the sense of touch. Her mother explains they have limited ways to communicate with her and largely go off the sounds she makes.
“Every single day we find out there’s these things we can do to help our daughter and then we hit these road blocks, either within the medical community or just because we don’t have the financial means to provide that for her,” said Marin.
“Every single support will have suggestions,” said Risa Walker, retired deafblind educational consultant, who worked with Elena for about two years.
Walker says cases like Elena’s are not only taxing emotionally for families, but also financially.
“Amazing individuals, extremely intelligent children, high levels of frustration because they understand that they can develop skills, language but try to communicate with someone who doesn’t know how to communicate with them, it’s very challenging,” said Walker.
It was only during the pandemic that Marin felt comfortable opening up about her daughter’s rare disorder. Friends decided to launch a GoFundMe campaign to help not only raise awareness, but money for Elena’s treatment and a hearing implant.
“Our focus is on raising those funds so that Elena can have this chance to hear and improved quality of life overall,” said Florentina Stancu-Soare, a friend of the family.
Elena’s mother is concerned about the gaps in health care and her child’s long-term quality of life. She and her husband work full-time while caring for her.
“She’s becoming more and more curious and wanting to learn and we’re finding that we run out of ideas on how to keep her engaged,” said Marin.