Inherited diseases are one thing that people have to consider before they have children together. Two carriers of a gene for a specific disease can manifest as a full-blown form of such a disease in the children of the two carriers. Niemann-Pick disease is a painful condition that cuts the sufferer’s life expectancy drastically. The disease does not have a known cure at this time, but researchers continue to perform tests and studies on it. Four types of the disease exist, which are A, B, C1 and C2.
About Niemann-Pick Disease
One in every 250,000 people has Niemann-Pick disease, according to the U.S. National Library of Medicine. Many of the people who develop this disease are of the European Ashkenazi Jewish descent. The disease seems to manifest in one person out of every 40,000 of this descent. Therefore, they must carefully watch if they plan to have children.
The A type of the disease usually manifests in infants before they are six months of age. Such children rarely make it to their third birthday. They suffer from symptoms such as frequent lung infections, neurodegeneration and more. The type B disease manifests in children a bit later and its progression is not as fast as the progression of type A is. Type B sufferers are likely to have issues with their livers, spleens, and lungs. They may not develop the neurological problems that type A sufferers develop, however.
Type C1 and C2 sufferers usually start manifesting symptoms during their childhood. Some of the symptoms that they may experience are symptoms such as liver disease, lung disease, muscle tone issues, speech impediments, difficulty swallowing, seizures and more. Patients with type C1 and C2 versions of the disease are much more likely to live until they are adults than other sufferers are.
Carrier DNA Tests For Niemann-Pick Disease
People inherit Niemann-Pick disease in an autosomal recessive way. That means both parents must be carriers to pass it onto their children. Partners are encouraged to get screened for Niemann-Pick traits before they have children. A blood test can display the potential for the disease. Hospitals also run tests on newborn children to see if they have the disease but the goal is to find out if two potential parents are carriers beforehand. That will at least let them know so that they can make an educated decision about whether to have a family or not.
Specialists can test the blood of suspected carriers and gauge the white blood cells’ ASM activity. Blood tests are highly accurate for exposing Types A.