Hurler’s syndrome, also known as Mucopolysaccharidosis I, or MPS 1, is a genetic disorder that causes dwarfism, hepatosplenomegaly, or the enlargement of the liver and spleen, progressive mental retardation, restricted joint movement, an enlarged tongue,restricted joint movement, degenerated eyesight, hearing loss, very prominent eyes and and forehead, a recessed nasal bridge, and gapped teeth. Due to the deformities seen in the face, the disease has also been referred to as “gargoylism”. In addition to all of this, death by the age of ten years old is very common. The disease is quite rare, only being present in about one in one hundred thousand newborn babies.
The disease is genetically inherited and is a recessive. To be exhibited in …show more content…
Kourtaney Collins, a woman from Eastlake, Australia, turned 21 in 2010. This is exceptional because Kourtaney was diagnosed with Hurler’s syndrome at a young age. When she was two years old, Kourtaney underwent a bone marrow transplant. Though she is still heavily deformed, she has lived this long, and is believed to be the oldest person to ever have survived so long with MPS 1. What is truly the most exceptional about Kourtaney Collins, however, is the fact that she is not severely mentally handicapped. Kourtaney was able to graduate from high school, an incredible feat for somebody with Hurler’s syndrome. Kourtaney’s particular case inspires hope for others with the disease, and also shows that people with the disease can, with the necessary medical treatment, survive, and even have fulfilling …show more content…
As was mentioned previously with the case of Kourtaney Collins, a bone marrow transplant is one such way to treat MPS 1. Also known as a hematopoietic stem cell transplant. In this procedure, disease causing bone marrow is replaced with healthy, functioning bone marrow. Before the bone marrow is replaced the patient undergoes chemotherapy to destroy the defective, diseased bone marrow cells. Stem cells are then pumped into the patient through an IV, where they find there way to the bone marrow and replace the defective cells. Recently, developments have allowed doctors to perform such stem cell transplants by simply collecting them from the blood. Either way, the procedure allows the improvement of some physical characteristics, and can even stop the deterioration of the brain, which results in mental retardation. Another treatment for the disease is enzyme replacement therapy. In this procedure, rather than giving a patient new stem cell, the patient is administered the needed enzyme, alpha-L-iduronidase, for the breakdown of GAGs. However, hs method has been proven only to help with non neurological symptoms, especially with the pain caused by the disease. Fortunately for those suffering from Hurler’s syndrome, scientists are currently working on gene therapy for Hurler’s syndrome. For this treatment, scientists
The disease is genetically inherited and is a recessive. To be exhibited in …show more content…
Kourtaney Collins, a woman from Eastlake, Australia, turned 21 in 2010. This is exceptional because Kourtaney was diagnosed with Hurler’s syndrome at a young age. When she was two years old, Kourtaney underwent a bone marrow transplant. Though she is still heavily deformed, she has lived this long, and is believed to be the oldest person to ever have survived so long with MPS 1. What is truly the most exceptional about Kourtaney Collins, however, is the fact that she is not severely mentally handicapped. Kourtaney was able to graduate from high school, an incredible feat for somebody with Hurler’s syndrome. Kourtaney’s particular case inspires hope for others with the disease, and also shows that people with the disease can, with the necessary medical treatment, survive, and even have fulfilling …show more content…
As was mentioned previously with the case of Kourtaney Collins, a bone marrow transplant is one such way to treat MPS 1. Also known as a hematopoietic stem cell transplant. In this procedure, disease causing bone marrow is replaced with healthy, functioning bone marrow. Before the bone marrow is replaced the patient undergoes chemotherapy to destroy the defective, diseased bone marrow cells. Stem cells are then pumped into the patient through an IV, where they find there way to the bone marrow and replace the defective cells. Recently, developments have allowed doctors to perform such stem cell transplants by simply collecting them from the blood. Either way, the procedure allows the improvement of some physical characteristics, and can even stop the deterioration of the brain, which results in mental retardation. Another treatment for the disease is enzyme replacement therapy. In this procedure, rather than giving a patient new stem cell, the patient is administered the needed enzyme, alpha-L-iduronidase, for the breakdown of GAGs. However, hs method has been proven only to help with non neurological symptoms, especially with the pain caused by the disease. Fortunately for those suffering from Hurler’s syndrome, scientists are currently working on gene therapy for Hurler’s syndrome. For this treatment, scientists