After your child is born and they come home with you from the hospital, the last thing you think about is that they may have been born with a rare genetic neurological disorder that has been undiagnosed. However, if your child has Niemann-Pick disease, type C, this is exactly what may have happened. Get to know more about Niemann-Pick disease (NPD), type C, so that you can handle the diagnosis and provide your child with the care and support that they need.

What Is Niemann-Pick Disease?

Niemann-Pick disease is a set of rare neurological and metabolic disorders that affect the body's ability to process lipids (an important component of cells and a nutrient that a person consumes in their diet). There are currently four types of Niemann-Pick disease, referred to as types A, B, C, and D.

What Is Niemann-Pick Type C?

NPD type C is a serious health concern. When a child is diagnosed with this type of NPD, it means that their body is unable to produce specific proteins needed in the body, known as NPC1 and NPC2 proteins.

The lack of these two different proteins makes it so a person's body cannot break down lipids (fats) or cholesterol. Because of this these lipids and cholesterol remain whole in the body and can build up in the liver, brain, and spleen in particular.

How Is Niemann-Pick Type C Diagnosed?

Until recently, there was no blood test that could be used on a newborn before they go home from the hospital to detect Niemann-Pick type C. However, a test was recently developed that can accurately screen newborns for the disorder. As of right now, the test has gone through trial stages and is being prepared for wider use.

Before the screening test was developed recently, diagnosis relied on the presence of neurological symptoms. A sample of skin or blood tissue can be taken and analyzed to determine whether or not a symptomatic person has NPD type C.

What Are The Treatment Options?

As of yet, there is no cure for Niemann-Pick type C. However, with the new screening test, early diagnosis and disease management is becoming possible. In recent years, a drug known as miglustat was studied by the FDA to help manage the neurological symptoms of the disease. These symptoms include the control over eye movements, the legs and arms, swallowing, and several other cognitive functions.

While miglustat is not a cure, it can help to improve a person's quality of life and help them to function better on a daily basis. Research is also constantly being done in the effort to improve treatments and management of the disease. Currently, the studies are leaning toward reformulating an existing drug to treat NPD type C by increasing the production of one of the proteins (NPC1) that is lacking in people with the disease. The hope is that by increasing the presence of that protein, the body's ability to break down lipids and cholesterol will increase as well.

Now that you know more about Niemann-Pick type C, you can better care for your child if they have it, and if you know you are a carrier, you may be able to get earlier screenings and treatment for your children in the future.