The following is taken from the National MPS Society ...

MPS I, along with six other MPS diseases is a mucopolysaccharide disease that is relentlessly progressive and potentially fatal. MPS I has also been called Hurler, Hurler-Scheie  and Scheie syndrome . Hurler takes its name from Gertrude Hurler, the doctor who described a boy and girl with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about some of his patients who were more mildly affected. Individuals who seem not to fit clearly in either the severe or the mild end of the disease were said to have Hurler/Scheie. The specific disease names have been replaced with the designations attenuated (diminished severity) and severe MPS I.

There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause.

What causes this disease?
Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.

"saccharide" is a general term for a sugar molecule (think of saccharin)

"poly" means many

"muco" refers to the thick jelly-like consistency of the molecules

There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with these diseases are missing an enzyme called alpha-L-iduronidase which is essential in breaking down the mucopolysaccharides called dermatan sulfate and heparan sulfate. The incompletely broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.

Which disease does my child have?
MPS I (Hurler-Scheie) is a continuum of severity based upon the symptoms, ranging from severe to attenuated. There is a great deal of variability of symptoms among individuals with MPS I, often making the specific designation difficult. Generally, severe MPS I will present within the first year of life while less severe (attenuated) forms present during childhood. Although individuals with attenuated MPS I have normal intelligence, they may have a variety of symptoms that can range from mild to severe.

How common are these diseases?
It has been estimated that in British Columbia, 1 in 100,000 babies born would have Hurler. The estimate for Scheie  is 1 in 500,000, births and for Hurler/Scheie it is 1 in 115,000.

There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.

How is the disease inherited?
We all have genes inherited from our parents which control whether we are tall, short, fair, etc. Some genes we inherit are "recessive," that is to say we carry the gene, but it does not have any affect on our development. MPS I (Hurler-Scheie syndrome ) is caused by a recessive gene. If an adult carrying the abnormal gene marries another carrier, there will be a one in four chance with every pregnancy that the child will inherit the defective gene from each parent and will be affected with the disease. There is a two in three chance that unaffected brothers and sisters of children with MPS I will be carriers. They can be reassured; however, that, as the disease is so rare, the chance of marrying another carrier is very slight provided they do not marry a cousin or other close family member.

Is there cure for MPS I?
There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease. On April 30, 2003, the U.S. Food and Drug Administration (FDA) granted marketing approval for the orphan drug Aldurazyme® (laronidase). Aldurazyme is the first and only FDA approved ERT treatment developed through recombinant DNA technology for individuals with MPS I. For more information, visit the treatment website at http://www.aldurazyme.com. 

Our take on Hurler's Syndrome
From what we gathered from research, Hurler's Syndrome, also refered to as MPS I, is a very rare disease that affects every 1 in 100,000 infants. While there are numerous types of MPS, Hurler's disease is one of the worst. A child with Hurler's will have noticeable symptoms within the first year of life whereas other forms of MPS are noticeable as the child grows.

In a nutshell, Hurler's affects all parts of the body. The child stops developing after the third year of age and will most likely be mentally retarted. Hearing loss and Corneal clouding are common for kids with Hurlers. The corneal clouding gets to the point where the child will need glasses and will have night blindness. They have the possibility of having and enlarged liver, spleen and/or kidneys. Their bone structure will not develop properly: their ribs will not form correctly, their hand motions will resemble that of a claw and they would most likely have stunted growth, or dwarfism. They would easily get upper respiratory infections and would suffer from breathing difficulties and sleep apnea. If that weren't enough, there would be a decent chance that their teeth also would not come in normally. Finally, and worst of all, the child would most likely die between the ages of 5 and 10 due to heart failure.

In lamans terms ... children with Hurler's are missing a "cleansing enzyme." Normally, garbage will collect on our cells but the "cleansing enzyme" would go through the body and clean the cells. Since kids with Hurler's lack that enzyme, the collection of the garbage continues and eventually the garbage on the cells would damage their bone structure and organs.

There is no official cure for MPS. Treatments are available though. First is ERT, or Enzyme Replacement Therapy, which is basically like being given medication that has the enzyme which would clean out the organs. However, it doesn't fix any neurological damage, so if the MPS that a child has will affect their brain, ERT will not prevent their mental retardation. Another option is a Bone Marrow Transplant, but with kids with Hurler's it is almost always rejected and could actually kill them.

Another treatment that isn't really mentioned is an Umbilical Cord Blood Transplant where the child receives cord blood from a unrelated match. What will happen is that the child will get chemotherapy to reset their immune system and then they will receive a blood transplant that will contain that missing enzyme. The hope is that the new blood will take and that the body will actually start to produce that enzyme. If that happens, then 95% of the damage that the Hurler's would cause will stop. In some cases, the enzymes will actually go back and repair any damage that may have been caused. The only thing this treatment doesn't fix is any damage done to the skeletal system. (In our case, Logan's pelvis is a little deformed.)

The road to the transplant is not a quick and easy one. Our doctor told us that there is a 10% chance that a child receiving this transplant may run into fatal complications. The entire process can take up to a year. Two weeks for evaluations, nine days of chemotherapy with the blood transplant on the 10th day, then about seven months of monitoring to make sure that his immune system is picking up steam and, most of all, the missing enzyme is being reproduced. The child will spend the first two months post-transplant in the clean room for daily monitoring then they will be taken out of the hospital but still monitored as their immune system continues to strengthen. If it's successful, then yearly checkups are needed after the transplant is considered a success.