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mucopolysaccharidoses (mps) is a group of genetic disorders characterized by the deficiency of an enzyme responsible for breaking down a specific types of sugar molecules called mucopolysaccharides, according to johns hopkins medicine . without these enzymes, the sugars are stored improperly and can begin to build up throughout the body — including in the brain, organs and joints.
hurler syndrome is the most severe form of mps. children with this condition may experience skeletal abnormalities including a warped spine, carpal tunnel syndrome, joint stiffness and coarse facial features; an enlarged liver or spleen; retinal degeneration and/or blindness; difficulty breathing and intellectual disability. children with hurler syndrome have an average life expectancy of under ten years, however, bone marrow transplants may stop further damage from taking place and translate to long-term favourable outcomes, as donor cells will carry the missing enzyme.
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we were kind of lucky because he was scheduled for an mri. i can’t really remember the reason for the mri, but when we got there, the nurse was asking many questions such as does he snore? does he always have his mouth open? does he sleep well? does he eat well? does he walk well? at what age do you start walking, talking, being seated? we didn’t know what was happening back then. the radiologist came back to us and said that we couldn’t do the mri that day, that we had to go through a pre-op, which is meeting with a nurse, a doctor and an anesthesiologist before doing the mri.
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i think he’s stable now. but there are a lot of things that he can’t do. for example, with covid, he hasn’t been to school, so for him, it’s hard to always be here with me at home. you can see that he is anxious to go back to school because he likes seeing new people. i don’t think he’s mad, but we can’t really communicate with him because he has an intellectual disability. he’s seven years old, but mentally, he’s between one and two. so, i can’t ask him, are you happy today? we don’t really know, but i think generally speaking, he’s ok. but we can’t wait to give him some kind of a normal life.
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