They have only their childhood to experience a lifetime!
Tylor's doctor, Marc Patterson
The horror of Niemann Pick Disease is too great for most of us to imagine. This rare, deadly disease robs a child of our most precious gift-life. At the same time, parents must suffer through the gradual decline and certain death of their child.
Researchers have worked hard to learn as much as they can, but this is an uphill battle. NPD is dangerously unpredictable-it can take many forms and usually strikes without warning. Furth more, the symptoms are similar to dozens of other conditions.
Significant progress has been made, but this occurs slowly. Diagnosis is still difficult and a treatment has yet to be found.
You can help children and families facing NPD. Take a few moments to learn and understand. Have hope that researchers will continue to make progress. Offer support in any way that you can. These are important steps toward a day when researchers can diagnose and treat NPD with 100 percent accuracy and success. With your help, these families can put time back on their side.
Understanding the different types of Niemann Pick DiseaseNiemann Pick Disease is actually a small group of diseases. They all work at a genetic level, and most prove fatal at an early age, anywhere from three years to the late teens. There are three types of NPD that are most common.
Types A and B
NPD types A and B are caused by the deficiency of a specific enzyme activity within cells. Absence or improper functioning of this activity will kill cells, causing major organ systems to malfunction. Type A is more severe; it leads to neurological damage and death, usually by age three. Type B, caused by the same deficiency in enzyme activity, is different because it has little or no neurological activity. Type B patients survive into late childhood and even adulthood.
NPD Type C is a completely different variation. NPC is responsible for the buildup of cholesterol in such areas as the spleen and liver and for the accumulation of gangliosides in the brain. This ganglioside buildup results in eventual damage to the nervous system, causing neurological deterioration. Like the others, Type C is always fatal.
Transmission and Frequency of Occurrence
NPD is inherited. The mother and father each carry one copy of the abnormal gene without manifesting any sign of the disease themselves. Children who are then afflicted with NPD possess two copies of the abnormal gene. Each time carrier parents have a child, there is a one in four chance the child will have NPD. The chance that the child will be a carrier is one in two.
Signs and Symptoms
Diagnosing NPD is not easy because the symptoms apply to many other conditions. In addition, doctors can't use the patient's age to aid in diagnosis because symptoms may first appear anywhere from several months to several years. Even the rate of progression varies from patient to patient. Despite these obstacles, the following list of symptoms can be consulted with a fair amount of confidence.
Type AType A develops in the first few months of life. The majority of infants affected with NPA are of Ashkenazi Jewish ancestry. Symptoms generally include:
- Feeding difficulties
- An enlarged liver and spleen
- Progressive neurological deterioration
- Failure to thrive
- Progressive loss of early motor skills
Type BType B has a more variable course of symptoms and diagnosis. Symptoms may include:
- Enlarged liver and spleen in early childhood
- Pulmonary disease and susceptibility to respiratory infections
- Poor growth and development
- NPD Type B rarely involves neurological problems but symptoms may be chronic.
Type CType C most often strikes school-age children, but can also start during infancy or early adulthood. Patients experience a wide range or symptoms.
- Jaundice at or shortly after birth
- An enlarged spleen or liver
- Difficulty with upward and downward eye movements
- Unsteadiness of gait, clumsiness, problems walking
- Difficulty in posturing of limbs
- Slurred, irregular speech
- Learning difficulties and progressive intellectual decline
- Sudden loss of muscle tone, often leading to falls
- Tremors accompanying movement and , in some cases, seizures
Research is our only hope
Making accurate diagnoses and finding life-saving treatments is a long process. For types A and B, researchers have identified many of the molecular abnormalities in the gene that causes NPD. Still, significant progress won't be made until researchers understand the onset of Type A versus Type B from the same conditions in a cell. There are no treatments available for Type C. However, the primary gene that causes Type C has been isolated by researchers, clearing the way toward better diagnosis and a treatment that remedies cholesterol metabolism at the cellular level.
** Information taken from a National Niemann Pick Disease Foundation pamphlet **