Dziecko z chorobą Pompego

Violet and her sister play GEORGIA, USA THIS FAMILY are living in agony after their newborn baby was born with a terminal illness “like a timebomb” so rare medics cannot predict with any certainty how long she will survive. Baby Violet Elmore (14 months) from Warner Robins, Georgia, USA was just nine days old when her family got the call that her newborn screening test had been flagged for Pompe Disease, and after extensive testing it was confirmed that she had the late onset version. Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells. The disease occurs when you lack a specific digestive enzyme called acid alpha-glucosidase (GAA). The condition causes severe muscle weakness and wasting. Without early detection and treatment, the disease can be fatal. Pompe disease is a rare genetic condition. In the United States, it affects about 1 in every 20,000 people. Without early detection and treatment, babies with infantile-onset Pompe disease (IOPD) can die of respiratory or heart failure People with late-onset Pompe disease (LOPD) are not as severely affected, as the disease progresses at a slower rate. However, it depends on the age of onset and severity of the disease Every person with this disease has a unique set of genetic mutations that affect the body differently, which means the disease will show up at different times for different people and there’s no way to predict when symptoms could show. “Violet inherited two genetic mutations that led to her Pompe Disease, one from me, and one from her father,” said mother Meigan. “These two particular mutations have never been seen together. “Sometimes, it's possible to guess a timeframe for when symptoms will show if the mutations are commonly seen together, as there are many other case studies to go by. “However, Violet's particular mutations have not been seen together, so the family have no idea when symptoms could present themselves. It could be one year from now, five years from now, there's just no telling.” This means that her parents Digital Producer Meigan Elmore (30) and Chemistry Teacher CJ Elmore (30) will have to monitor their daughter the rest of her life, because at any point it could be determined by her physical markers that muscle damage has reached a point where she will need to start treatment. The treatment for Pompe Disease is a six to eight hour long infusion therapy that she would need to receive on a regular (bi-weekly to monthly) basis for the rest of her life, or until a miracle cure is found. Violet is currently healthy, all of her test results are coming back within a normal range and she is meeting her developmental milestones. Violet’s family explained how after receiving Violet’s diagnosis she rushed to look up the condition online, with devastating results. “The first thing I read after Violet was diagnosed was that it was fatal within a year,” Meigan said. “I remember my world crashing around me as I held my seemingly healthy newborn baby girl who was nine days old, and tried to imagine only being able to spend a year with her. It was awful. “Google is the worst place to go to first because it is full of outdated information on Pompe Disease. “Instead try to go out and find your community, there you'll find more truth.” Fortunately, Violet does not have any symptoms. She is currently being monitored by a team which consists of Genetic Counselors, Geneticists, Physical Therapists, Cardiologist, and of course her Paediatrician. “She is closely monitored every few months to check on her physical development (to make sure she is meeting all of her physical milestones) as well as biological markers,” said Meigan. “Violet could start showing symptoms next year, or when she's 50+ years old. There's no way for us to tell, as her genetic mutations have never been seen together before. “My husband and I found out during the process of Violet's diagnosis that we both carry one genetic mutation each. “Because of this, each of our children has a 25% chance of having Pompe Disease, from inheriting both of our mutations, or simply being a carrier of the disease, by inheriting one of the mutations. “We had our older daughter tested shortly after Violet was diagnosed, as Pompe Disease was not added to the Newborn Screening Test until after our oldest was born. Luckily, she's just a carrier and will not show symptoms.” Despite a terrifying diagnosis and a level of unpredictability to her child's life no mother can imagine, Meigan loved being pregnant with Violet as she was actually their rainbow baby after suffering a miscarriage; and although in the start, accepting Violet’s unseen illness was difficult, the family feels it has actually made them stronger.