Diagnosis and Treatment

Mucopolysaccharidosis I is a rare disease, so doctors at community healthcare centers might want to rule out other conditions that can have similar symptoms first. The doctor would ask simple questions to understand the severity and frequency of the symptoms, as well as check the family medicine history as the preliminary step to diagnose the condition. The healthcare expert would then recommend a few tests to check the level of sugars in the urine as well as to find out the extent of protein deficiency in the blood and skin cells. After proper diagnosis, the doctor would derive a treatment plan to control the effects of MPS I.

The most common treatment recommended for MPS I is enzyme replacement therapy (ERT). This therapy uses a man-made protein known as laronidase to balance the low levels of alpha-L iduronidase in the body. The treatment effectively helps to relieve most of the symptoms of MPS I, as well as slows the progression of the disease. However, ERT is seen to be ineffective in treating problems related to thinking ability and learning.

Another treatment option recommended for MPS I is hematopoietic stem cell transplant (HSCT). In this procedure, the doctor would take cells from the bone marrow or umbilical cord blood in newborns to replace the defective cells in the body. This would help the body to produce the missing protein normally. Although this treatment would help to treat the cognitive problems and most of the physical issues, HSCT can sometimes be ineffective for bone or eye problems.

Taking Care of your Child

You should encourage your child with MPS I to be independent. Making friends and enjoying the company of others would help to keep him/her positive as well as work to ease the psychological effects of the condition. You should also keep an eye on other people’s reaction towards your child and inform your peers about his/her condition. Be sure to mention your kid’s interests and personality to the school staffs, as well as inform them of what he/she can and cannot do. If your child needs one-on-one attention, specify that to the school authorities as well.

You should take extra care to protect the neck and spine of your child. So try to talk positively to him/her about how dangerous it can be to indulge in contact sports or participate in gymnastics. Similarly, make the necessary changes in your home too in order to make it simpler for your kid to move around and take care of his/her daily routine with ease.

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    About the Author

    Dr. Ghassan M. Al-Jazayrly, MD

    A graduate of University of Aleppo Faculty of Medicine, Dr. Al-Jazayrly or, as he is colloquially known: Dr. AJ, is an oncologist and hematologist of a Complete Care Community Health Center (CCCHC) with more than 36 years of experience. In recent years, he’s been involved with a non profit organization known as Every Woman Counts (EWC) which provides free breast and cervical cancer screening and diagnostic services to California’s underserved populations in order to eliminate health disparities for low-income individuals.

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