What Is Hurler Syndrome?
MPS I (historically known as Hurler, Hurler-Scheie, and Scheie Syndromes) is an inherited lysosomal storage disorder caused by the deficiency of an enzyme called alpha-L-iduronidase.
Hurler Syndrome is passed on to a child from two parents who are carriers of the disease. About 1 in 160 people are carriers, which results in about 1 in 25,000 chance for two carriers to meet. Because the Hurler gene is recessive there is only a 1 in 4 chance that a child of two carriers will suffer from the disease. Thus, only one out of 100,000 children are affected with this rare inborn error of metabolism.
(photos are 1, 6, 8, & 11 months old)
As Max grows older, you can see the changes in his appearance as the disease progresses. Hurler children are said to have "coarse" facial features, including widely spaced eyes, depressed nose bridge, bushy eyebrows, turned up noses,short necks and large heads.
Children with Hurler Syndrome are born without an enzyme called alpha l-iduronidaise. This enzyme's purpose is to break down a particular sugar in the body. Because it is not broken down, the sugar accumulates in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness. Sadly, if left untreated, the life expectancy of a child with MPS1-H is only 5-10 years.
Physical characteristics of Hurler children may include larger foreheads, droopy eyes, slightly turned-up noses, clouded corneas, small, chubby hands and feet, and a gibbus, or curve, in the lower back (kyphosis). They often experience repeated ear infections or have chronic runny noses. Some children with Hurler breathe loudly or snore when sleeping. Before diagnosis, some symptoms may progress in certain children. Some may show more heart valve trouble or some may show more orthopedic issues.
Everyone's experience with this disease is different, but there is usually one thing in common: it is usually diagnosed only after many other conditions have been expected. One of the goals of this website is to continue to grow the community of those affected by this disease, and to share our story with those who may have children still undiagnosed but with similar symptoms.
There is no cure for Hurler Syndrome. To date, the only treatment is a stem cell transplant. If a child undergoes a successful transplant, many aspects of the disease are halted. However, proof of stabilizing the disease in the bones still remains to be seen. The oldest Hurler survivor of a bone marrow transplant is in his early twenties. It has been noted that the younger a child is who gets a transplant, the better off he or she will be long-term. For those children whose diagnosis came too late in the progression of the disease to be eligible for transplant, there is still some hope in a newly approved enzyme replacement therapy (ERT). The additional enzymes do a lot to help slow the symptoms in many areas, but much research and work remains to cross over the "blood brain barrier" as it does not yet help neurological regression and atrophy.
More personal information on how we came to learn about this disease with our son can be found in Max's Story.
More information on the different MPS orders, and current news regarding research can be found at the National MPS Society.
Most of this information taken directly from Miss Molly B's website.
Hurler Syndrome is passed on to a child from two parents who are carriers of the disease. About 1 in 160 people are carriers, which results in about 1 in 25,000 chance for two carriers to meet. Because the Hurler gene is recessive there is only a 1 in 4 chance that a child of two carriers will suffer from the disease. Thus, only one out of 100,000 children are affected with this rare inborn error of metabolism.
(photos are 1, 6, 8, & 11 months old)
As Max grows older, you can see the changes in his appearance as the disease progresses. Hurler children are said to have "coarse" facial features, including widely spaced eyes, depressed nose bridge, bushy eyebrows, turned up noses,short necks and large heads.
Children with Hurler Syndrome are born without an enzyme called alpha l-iduronidaise. This enzyme's purpose is to break down a particular sugar in the body. Because it is not broken down, the sugar accumulates in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness. Sadly, if left untreated, the life expectancy of a child with MPS1-H is only 5-10 years.
Physical characteristics of Hurler children may include larger foreheads, droopy eyes, slightly turned-up noses, clouded corneas, small, chubby hands and feet, and a gibbus, or curve, in the lower back (kyphosis). They often experience repeated ear infections or have chronic runny noses. Some children with Hurler breathe loudly or snore when sleeping. Before diagnosis, some symptoms may progress in certain children. Some may show more heart valve trouble or some may show more orthopedic issues.
Everyone's experience with this disease is different, but there is usually one thing in common: it is usually diagnosed only after many other conditions have been expected. One of the goals of this website is to continue to grow the community of those affected by this disease, and to share our story with those who may have children still undiagnosed but with similar symptoms.
There is no cure for Hurler Syndrome. To date, the only treatment is a stem cell transplant. If a child undergoes a successful transplant, many aspects of the disease are halted. However, proof of stabilizing the disease in the bones still remains to be seen. The oldest Hurler survivor of a bone marrow transplant is in his early twenties. It has been noted that the younger a child is who gets a transplant, the better off he or she will be long-term. For those children whose diagnosis came too late in the progression of the disease to be eligible for transplant, there is still some hope in a newly approved enzyme replacement therapy (ERT). The additional enzymes do a lot to help slow the symptoms in many areas, but much research and work remains to cross over the "blood brain barrier" as it does not yet help neurological regression and atrophy.
More personal information on how we came to learn about this disease with our son can be found in Max's Story.
More information on the different MPS orders, and current news regarding research can be found at the National MPS Society.
Most of this information taken directly from Miss Molly B's website.
posted by Mike Ciacciarelli
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