Sometimes for a short child’s life falls more than some adults worried for several decades.
A year and a half ago, Sarah Machlokes noticed that her six-month-old daughter Mariana hard to swallow. The woman went to the hospital, where as a result of examinations and tests and the doctors gave the little girl a scary diagnosis — Niemann — pick disease type C, which is also called «childhood Alzheimer’s«.
The drugs that can cure the girl there, and her mother hoped that treatment at the children’s hospital in Los Angeles will help at least slow the deterioration.
«Children’s Alzheimer’s»
Niemann — pick disease is a serious genetic diseasecaused by metabolic disorders and the accumulation of fat and toxins in the liver, spleen, lungs, bone and brain. Most often, the disease manifests in childhood, at the age of 4-10 years, causing severe hepatic impairment, breathing problems, loss of coordination and blindness. The disease is always fatal and most patients die before 20 years.
Before heading to Los Angeles, Mariana was treated in Chicago. She is the smallest patient in the program, which includes a painful injection of the drug through lumbar puncture, so that the drug will reach the brain. This procedure allows cells to rid the girls from the fat that they accumulate.
Hope for the future
Mother Mariana says that progress is visible to the naked eye, because is unable to go before the baby can pass through the room. Thus the woman is fully aware that the experimental treatment will not stop the disease forever.
Family members Mariana has created a Foundation of Hope for Marianto spread information about the disease and to raise money for research in this area, which in the future may help some sick child who has done nothing to deserve such a fate.
