Amelia and Makenzie Kahn Twin sisters with Batten disease Country: USA

Biography of Amelia and Mackenzie Kahn

Amelia and Mackenzie Kahn are twin sisters who suffer from a rare and incurable disease called Batten disease. This condition threatens to cause seizures, vision loss, and paralysis before the girls reach their teenage years. Amelia was only one year old when she was diagnosed with autism. At the age of six, she began experiencing serious vision problems. Her parents, Dave and Karen from Scottsdale, Arizona, did not anticipate that Amelia could be affected by a more serious condition than autism. Just a few weeks ago, doctors announced that Amelia has Batten disease, a rare inherited neurodegenerative disorder. There was almost no doubt among the doctors that Amelia's twin sister, Mackenzie, also suffers from this deadly disease. The last hope for the girls is to slow down the process of nerve cell degeneration through a new clinical trial. However, serious funds are needed to participate in the program. Dave and Karen, eager to create a complete family, turned to in vitro fertilization (IVF) after several unsuccessful years of conceiving naturally. Amelia was barely a year old when her unusual behavior for her age ultimately led to the discovery of autism. When she turned five, her preschool teacher recommended that her parents take Amelia to an eye doctor for an examination. At that time, the doctor claimed that Amelia's vision was perfectly fine. But a year later, the parents received a similar recommendation. Concerned, Dave and Karen decided not to ignore the advice. Amelia underwent an electroretinography (ERG) test, used to detect abnormal retinal function. An ophthalmologist was forced to admit that Amelia had macular dystrophy, a rare genetic eye disorder. Macular dystrophy seriously affects vision and sometimes leads to blindness. Shortly after, Mackenzie also began complaining about eye problems. "She couldn't see words at all when we started reading," Karen said. Research showed that Mackenzie also suffers from macular dystrophy, but in a less severe form. A few days later, Mackenzie was also diagnosed with Batten disease. "Dave and I are not public people, and it was difficult for us to share our situation with the public after the girls were diagnosed," said Karen. "But we had to step out of the shadows to get help." "We were thinking about what our future will look like in 15-20 years. It makes no sense to us if our children are not with us." Known as neuronal ceroid lipofuscinosis, Batten disease is a rare and deadly genetic disorder that begins in childhood. It is characterized by the accumulation of fatty substances in the cells of the nervous system, resulting in neurodegenerative effects such as vision loss, seizures, personality changes, and motor difficulties. The disease inevitably progresses, and over time, the affected individuals face serious symptoms such as loss of mobility, difficulty swallowing, and eventually death. However, looking at Amelia and Mackenzie, you would never think that they have serious physical and mental health problems. According to their parents, Mackenzie does not give any cause for concern, except for occasional falls, which can be attributed to the clumsiness of a seven-year-old girl. Unfortunately, Amelia has difficulties with speech. Karen says, "She has always struggled because of autism. At some point, her speech disappeared, and Amelia has been undergoing therapy since she was two years old." Overall, Amelia is "progressing in the wrong direction," but it is difficult to determine whether the difficulties are caused by autism or Batten disease. It is likely that this will never be definitively determined. Around the world, about 14,000 children suffer from Batten disease. Diagnosis is challenging primarily because doctors, let alone parents, have never heard of neuronal ceroid lipofuscinosis. Neither Dave nor Karen knew that they both carried a mutated gene. Since both parents are carriers, Amelia and Mackenzie had a 25% chance of developing the disease. Currently, there are no known treatments or clinically approved medications for Batten disease. However, there is hope for new clinical trials aimed at halting or significantly slowing down the degeneration through gene therapy. Today, Dave and Karen are trying to ensure that Amelia and, most likely, Mackenzie are included in the trial. The parents are collaborating with the Batten Center at the University of Rochester in New York, one of the leading clinics for lysosomal storage diseases. In the near future, the family plans to travel to a well-equipped medical center in Texas that deals with Batten disease. Since the diagnosis, Dave and Karen have created a crowdfunding page on 'GoFundMe' to raise money for clinical trials and the trip to Texas. Currently, $88,145 has been raised out of the required $100,000. Additionally, Amelia and Mackenzie's parents have joined Facebook, where they share the latest news. Dave said, "We are incredibly grateful for creating a community that helps us as much as possible. We need help to send our daughters to clinical trials. Any donations are a huge support, but it could all be in vain if we can't participate in the new program."