| In the United States, an orphan or rare disease | | | | make it work. For example, the slippery joint fluid |
| occurs in less than 200,000 individuals. Also, there are | | | | that lubricates your joints contains |
| some diseases that only affect that many individuals | | | | mucopolysaccharides. The rubbery resilient cartilage in |
| in the entire world. Than there are those diseases | | | | your joints is another good example. All bodily tissues |
| that are widespread in certain parts of the world but | | | | have some of the substance as a normal part of |
| are rare in others. And there are some diseases that | | | | their structure.The modern word for |
| are truly one-of-a kind, usually due to a genetic | | | | mucopolysaccharides is glycos-amino-glycans or |
| defect. The United States Office of Rare Diseases | | | | (GAG), which stands for sugar-amino-sugar polymer |
| (USORD) list over 6,000 diseases considered rare in | | | | or long repeating sugar chains found in these |
| the United States; Hunter Syndrome is one of those | | | | materials. These sugar chains are submicroscopic and |
| diseases.Historical Background: The National | | | | cannot be seen with the naked eyes, but can be |
| Mucopolysaccharide Society (MPS) described Hunter | | | | studied using special scientific instruments and |
| Syndrome as a mucopolysaccharide | | | | analytical methods.To understand how GAG |
| (muco-poly-saccharide) storage disorder that is also | | | | accumulate and cause MPS II, it is important to know |
| called Mucopolysaccharidosis II (MPS II).Hunter | | | | that in the course of normal life, there is continuous |
| Syndrome is named after Charles Hunter, a professor | | | | process of constructing new mucopolysaccharides |
| of medicine of Manitoba, Canada, who first described | | | | and breaking down old ones; a recycling process. |
| two brothers with the disorder in 1917. Two types of | | | | Interesting enough, this ongoing process is necessary |
| Hunter Syndrome have been identified, mild and | | | | to keep your body healthy. This process of break |
| severe. However, there are individuals with | | | | down and recycling requires a series of special |
| intermediate severity who do not fit neatly in either | | | | biochemical tools called enzyme. In order to |
| the severe or the mild forms of the disease. Studies | | | | successful break down GAG, a series of enzymes or |
| have clearly shown that current understanding of the | | | | tools work in sequence one after another to split the |
| enzyme and its gene demonstrated that MPS II | | | | GAG into pieces. Each enzyme in the process has its |
| comprises a broad spectrum of severity that | | | | special purpose in the body and does just one special |
| individuals may be diagnosed from severe to mild | | | | function; like a screwdriver works on screws and a |
| Hunter with many individuals falling somewhere in | | | | hammer works on nails.According to several studies |
| between.Researchers concluded that all individuals | | | | individuals with MPS II are missing one specific |
| with Hunter Syndrome have a deficiency of the | | | | enzyme called iduronate sulfatase, which is essential in |
| enzyme iduronate sulfatase, which results in the build | | | | the process to break down certain GAG called |
| up of mucopolysaccharides, more recently called | | | | dermatan sulfate and heparin sulfate. The |
| glycos-amino-glycans (GAG). The accumulation of | | | | incompletely broken down dermatan sulfate and |
| GAG is responsible for the many problems that | | | | heparin sulfate remain stored inside cells in the body |
| affect individuals with MPS II.So far, there is no cure | | | | and begin to build up, causing progressive damage. |
| for individuals affected with these disorders. | | | | GAG itself is not toxic but the amount of it and the |
| However, there are means to manage the challenges | | | | effect of storing it in the body leads to multiple |
| that the individuals will experience, and assist them to | | | | physical problems. Babies may show little sign of the |
| live a productive life. Several treatments had been | | | | disorder, but as more and more GAG accumulates |
| tried with limited success. Such as bone marrow | | | | symptoms begin to appear. Sugar or other foods |
| transplantation with poor results. Currently, enzyme | | | | normally eaten will not affect weather there is more |
| replacement therapy is being studied, which may help | | | | or less build up of GAG.Individuals diagnosed with |
| some individuals affected with MPS II. Researchers | | | | Hunter Syndrome almost always have neurocognitive |
| continue to look for more effective method to treat | | | | degeneration with progressive and profound mental |
| these disorders, and hopefully those affected will | | | | retardation. When the diagnosis is made in children |
| have more and better options available in the near | | | | younger than three years old a progressively severe |
| future.Even with stem cell transplant or enzyme | | | | decline in intellectual functions occurs. Children with |
| replacement therapy, individuals with MPS II continue | | | | MPS II typically have the skeletal changes referred to |
| to have significant muscular and skeletal disabilities, | | | | as dysostosis multiplex. These individuals also exhibits |
| more commonly involving the spine, hips, knees, and | | | | progressive coarsening of facial features, short |
| hands. These are rarely life-threatening, but | | | | stature, joint stiffness, hepatosplenomegaly, and |
| frequently limit the individual function, activity, and | | | | hernias as common presenting signs and symptoms. |
| quality of life issues. Surgical intervention is often | | | | Individuals inflicted with MPS II may have popular skin |
| required to optimize long-term function. The timing | | | | lesions that are ivory in color and located on the |
| and type of surgical intervention may vary among | | | | upper back and the lateral upper arms and thighs. |
| individuals and surgeons. Still, early evaluation is | | | | Other skin lesions are hypertrichosis and thickened |
| important in determining proper treatment, and to | | | | skin. And extensive Mongolian spots associated with |
| optimize quality of life for those affected with MPS | | | | Hunter Syndrome have also been reported. These |
| II.How Hunter Syndrome is Inherited: Hunter | | | | individuals tend to have severe mental retardation |
| Syndrome has a different form of inheritance from all | | | | and deafness. Other symptoms include cerebral |
| other MPS disorders. Hunter Syndrome is a sex-linked | | | | ventricular dilation. The facial features of Hunter |
| disorder, meaning that it is transmitted on the female | | | | Syndrome are coarse, but the children still have faces |
| X-chromosome from mother to her children. In which | | | | that resemble other family members.Mildly affected |
| case, the syndrome is most often seen in males. | | | | children may behave in a normal manner and they |
| However, rare female cases have been reported. | | | | can be quite affectionate with a sunny nature. On |
| Hunter Syndrome can occur in any ethnic group; but | | | | the other hand, they can become short-tempered |
| a higher incidence has been reported in the Jewish | | | | when frustration sets-in due to physical limitations |
| population living in Israel. Hunter Syndrome may occur | | | | which often make life very difficult. Children who are |
| as frequently as one individual per 65, 000 births to | | | | mildly affected with MPS II should be encouraged to |
| as rarely as one individual in 132, 000 births.As stated | | | | be as independent as they can; since many adults |
| above, girls may be the carriers of the disease but | | | | with Hunter Syndrome lead a relatively normal and |
| except in the rare case, only boys will be affected. | | | | enjoyable life.According to one study done by the |
| For example, if a woman is the carrier for MPS II | | | | National MPS Society, many mildly affected Hunter |
| disorder, there is a 50% risk that any male child born | | | | adults have found productive employment as a |
| to her will be a carrier for the disease. It is very | | | | teacher of the deaf, a marine architect, and another |
| important to remember that not all women with only | | | | a sergeant in the army. As for education, it is |
| one MPS II child will be carriers of the abnormal gene. | | | | suggested, that some MPS II children could benifit |
| For instance, if only one individual in a family has MPS | | | | from having a mainstreamed education enjoying the |
| II, the carrier status of the birth mother cannot be | | | | social interaction with peers. However, it is very |
| definitavely determined. However, if additional | | | | important that parents and caretakers work closely |
| affected individuals are known, than the mother of | | | | with professional educators in the school system and |
| an MPS II child is assumed to be a carrier.The sisters | | | | develop the best Individualized Education Program |
| and maternal aunts of a person with Hunter | | | | (IEP) for children with Hunter Syndrome and other |
| Syndrome may also be carrier of the disorder and | | | | rare diseases.Finally, I believe that families, caregivers, |
| would have a 50% chance of passing the abnormal | | | | and educators should go the extra mile to educate |
| gene to a son. It is strongly suggested that all | | | | themselves about Hunter Syndrome and other rare |
| families of individuals with Hunter Syndrome should | | | | debilitating diseases that inflict children at such an |
| seek consultation from their medical genetic doctor | | | | early age. However, too often, any developed thirst |
| or a genetic counselor before planning to have | | | | for knowledge in this area may be left unsatisfied |
| additional children. It should be noted that analysis of | | | | due to the lack of information about these diseases |
| enzyme level, in itself, is not a reliable method to | | | | available to the public. Nevertheless, this barrier can |
| determine MPS II carrier status for many | | | | be overcome with the advancement in technology |
| individuals.What Causes MPS Disorders? | | | | and more people are introduced to the Internet.Dr |
| Mucopolysaccharides are a long chains of sugar | | | | William Smith is a psychologist and consultant with |
| molecules used in the construction of bones, cartilage, | | | | many years experience working with individuals and |
| skin, tendons, and many other tissues in the body. | | | | groups. Dr Smith specializes in working with Adult |
| They form part of the structure of the body and | | | | Children of Alcoholics, and Survivors of Sexual |
| also give the body many of the special features that | | | | Trauma such as Rape and Incest. |