How to live with Hunter Syndrome?

How can an illness change the life of a family, and what is the average prognosis for a person diagnosed with Hunter syndrome?

What difficulties can you face?

Babies with Hunter syndrome appear completely healthy at birth, regardless of the future severity of the symptoms. The first signs can be observed as early as 6 months of age. However, in some patients with an erased form, symptoms may not appear until late childhood and early adolescence. With this progression of the disease, some children may have near-normal life expectancy, while others may experience serious health problems, including mild learning difficulties.

It should be borne in mind that ⅔ people with this diagnosis have damage to the nervous system. The cognitive development and adaptive abilities of a child with severe illness begin to decline around age 4, with severe speech delay. Hearing loss begins around the age of 2 years, which also affects cognitive ability and speech formation. In addition, behavioral problems are characteristic: hyperactivity, impulsivity, begin at about 4 years of age.

The quality of life 

In 2019, a study was conducted in the United States to assess the quality of life of patients and their families. Previously published scientific papers highlight the continuing need for medical care in children with Hunter syndrome.

It is very important for children to receive enzyme replacement therapy weekly, without interruption. This allows you to improve the quality of life by reducing the rate of damage to all internal organs and systems.

In case of mild and moderate disease, enzyme replacement therapy has the most pronounced effect. This is clearly shown by a recent clinical case in the city of Irkutsk: a boy of 1 year and 8 months, due to frequent otitis media, wheezing, joint stiffness and changes in facial features, suspected mucopolysaccharidosis type 2. Soon, the diagnosis of Hunter’s syndrome was confirmed, and the child immediately began to receive ERT.

The child’s development did not suffer, and intelligence was also preserved at the time of diagnosis. As a result, within 4 months of the treatment started, the parents noticed that the child became more active and mobile, emotionally more stable, and acquired new skills. The attending physician noted an increase in mobility in the knee, elbow and hip joints, a decrease in the liver and spleen, which were previously enlarged.

To assess the effectiveness of therapy, one year after the start of treatment, a repeated study of glycosaminoglycans in urine will be carried out. But even after 4 months of treatment, the boy has a tendency to normalize these indicators.

The main factor is the timely started enzyme replacement therapy 

The doctors assessed the prognosis for the child’s life as favorable, because the timely started enzyme replacement therapy allowed starting treatment before more severe complications developed and significantly improving the boy’s quality of life.

A similar case of a longer use of enzyme replacement therapy was described by Romanian specialists: the boy began to receive idursulfase at 3 years and 3 months. During the year of treatment, the parents noticed that the child became more assiduous and calmer, this even allowed him to attend kindergarten and communicate with other children.

His sleep became longer and more uninterrupted. Parents managed to involve their son in all daily activities. The boy’s vocabulary expanded, and he tried to pronounce clear sentences in the first year of therapy. Despite the fact that ERT does not penetrate into the brain, cognitive functions may improve during treatment due to a decrease in the severity of symptoms from other organs and systems. Sometimes, due to general poor health, it is difficult to focus on learning something new and healthy person, without hereditary metabolic disorders.

Of course, the child’s illness leaves a big imprint on the whole family, increasing the moral efforts and material expenditures on frequent visits to doctors, on travel and flights for hospitalizations, on assistance in caring for the child. Only a third of children diagnosed with Hunter syndrome have a blurred or mild course. Then they can study independently at school and master a suitable profession.

We can say that the prognosis for life, social adaptation, family building and career depends on the degree of brain damage. So far, medicine cannot cope with the consequences of the negative effect of the disease on the brain, but with an early start of treatment, there are more chances for the most favorable prognosis.

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