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