Work with a doctor who specializes in lysosomal storage diseases, or LSDs. When children get a transplant before they're 2 years old, they might be able to learn better. These cells often come from bone marrow or umbilical cord blood. It can relieve most symptoms and slow the progress of the disease, although it doesn't help treat symptoms from the brain, like problems with thinking or learning.Īnother option may be a hematopoietic stem cell transplant (HSCT), in which doctors put new cells into your child's body that might make the protein their body is missing. It has changed the outlook for many kids with MPS I.
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How active the "missing" protein is in their blood or skin cellsĪfter doctors are sure it's MPS I, it's a good idea to let your extended family know about the gene problem, too.A lot of a specific sugar in their urine.If the doctors can't find another explanation for your child's symptoms, they'll test for MPS I by checking for: Has anyone in your family had similar symptoms in the past?.Does anything make them better? Or worse?.Getting a Diagnosisīecause it's a rare disease, doctors rule out other medical conditions first. Some kids might lose their ability to speak. Severe MPS I can also affect intelligence and learning. The more severe the disease, the more of these problems your child is likely to have. They typically have a normal intelligence and can do many things other people do. People with the milder form of the disease usually don't have as many physical problems. Your child might not have all of those symptoms. Hernias, which look like a bulge around the belly button or in the groin.Numbness and tingling in fingers or feet.Breathing problems and airway infections, including runny nose, sinus infections, and sleep apnea.Eye problems, including cloudy eyes and a hard time seeing in bright light or at night.MPS I can show up in a lot of different ways: Short, broad hands with curving fingers.Thick lips, widely spaced teeth, and large tongue.Shorter than average, with stocky build.
They might never grow taller than 4 feet. They're often big when they're born and grow quickly for a year, but then stop by the time they're 3. People with this form, attenuated MPS I, probably can make a tiny bit of the protein, which is why their symptoms are milder and the disease moves very slowly.Ĭhildren who have the severe form usually start to have symptoms while they're still infants. For those with less severe MPS I, symptoms show up later in childhood. Many babies with MPS I don't show any signs of the disease at first. You could pass the gene to your children, though. If you get one normal gene and one "bad" gene, you won't have symptoms of MPS I. But you get it only when both parents give you a broken gene. Now they talk about a range between two forms: And even for people with more severe MPS I, there are treatments to help ease their symptoms and slow down the disease.īecause it affects people in so many different ways, doctors used to separate MPS I into groups: Hurler, Hurler-Scheie, and Scheie syndromes. Many people with milder MPS I can go to school and eventually work and have families. People who have this disease can have problems with how their bodies grow and work, as well as trouble with thinking and learning. These sugars build up in cells and cause damage throughout the body. People with MPS I can't make a specific protein called alpha-L iduronidase, which is needed to break down sugars. You can't "catch" it - it comes from your genes. MPS I stands for mucopolysaccharidosis type I.
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