Friday, October 29, 2010

Children’s Alzheimer’s: Niemann-Pick Type C Disease

Twin 4-year-old girls Addison and Cassidy Hempel are similar to their contemporaries in many ways: They love nursery rhymes; "Humpty Dumpty" is the family favorite; they go to school and play house. But the identical siblings differ from other children in one major way.


The girls' world of childhood fantasy is haunted by a heartbreaking reality that they are fighting a disease that seeks to steal their memories. Like a pediatric version of Alzheimer's disease, Niemann-Pick Disease Type C (NPC), from which the girls suffer, causes patients to slowly lose their motor skills and then their minds. Rarely do children with NPC live past their teenage years. In fact, the National Niemann-Pick Disease Foundation says NPC always is fatal and the vast majority of children die before age 20 -- with many not making it to the age of 10.


Niemann-Pick Type C Disease as Children Alzheimer’s

While formally speaking, Alzheimer’s (AD) and Niemann-Pick Type C Disease (NPC) are absolutely different disorders, NPC is frequently referred as Children Alzheimer’s. In comparison with AD, which affects more than 5 million people just in USA, the NPC is much rarer. It affects currently less than a 100 people currently living in the United States, and about 500 cases have been diagnosed ever worldwide. NPC is described as a genetic degenerative neurological disorder that mostly strikes during childhood that stores fatty lipids in the brain, liver, spleen, and bone marrow because of the cells inability to metabolize cholesterol. Although uncommon, adult onset can take place with NPC. Outcome is also fatal with no cure.

Whether it is Niemann-Pick Type C Disease (NPC) or Alzheimer’s, they are extremely saddening to experience as a loved one. One affects mostly older adults and the other strikes predominantly in adolescents. Regardless, a main symptom in each disease is progressive Dementia along with similar pathological features that include the loss of intellectual function.

What is Niemann-Pick?

Although not widely known by the public and classified as rare by medical science, Niemann-Pick Disease (NPD) Type C has been the subject of worldwide medical research for many years because it is considered an important link in the battles against heart disease, Alzheimer’s, stroke & seizure disorders. Basically, an inherited biochemical deficiency results in the body’s inability to metabolize cholesterol properly. Consequently, cholesterol begins to accumulate in the liver, the spleen and the brain - a process which eventually results in serious neurological damage. The pathological effects of this disease were first noted around the turn of the century but, of course, its origins go back much further in time. In fact, a closely related variant of NPD-C (known as Type D) has been traced back to its originators in Nova Scotia in the mid- 1700’s. With the discovery last summer of the primary gene associated with NPD-C medical research has intensified worldwide, and at least one drug has been found which delays the onset of serious effects but it is not yet ready for clinical trials. Usually, the effects of Niemann-Pick Disease Type C (deterioration of motor skills, slurred speech, etc.) don’t appear until the early school years (although there is also a young adulthood onset type). Children seldom survive beyond their 15th birthday. In some cases, the prognosis is more difficult because of his early age, but serious effects could begin in as few as two years.

How it is Diagnosed?

Unfortunately there is no quick available test that will give you the answer. If foamy macrophages appear it is a strong possibility of a Lysosomal Storage Disease. The test can take up to 6-8 weeks to receive the results from the blood work and skin biopsy that is collected. When you are told that your child or children have a fatal disease, this time period turns into an eternity of worried thoughts.


There is no treatment for NP-C, but supportive therapies are available. These include medications to control seizures, abnormal posturing of limbs and tremors. Physical, speech and occupational therapy are also used to help with daily functioning. A low cholesterol diet and cholesterol-lowering medications do not appear to influence the course of this disease, and studies have shown no affect on the neurological progression. Currently a drug called Zavesca (Miglustat) which is FDA approved for Gaucher’s Disease Type 1 (the most common Lysosomal Storage Disorder) is only available by mail through Curascript and is being used in NP-C patients off label.  Off label basically means that it is prescribed for a purpose outside the drug’s original scope of approval. It has shown to help buy more time but the drug is not currently FDA approved in United States for use with Niemann Pick Type C Disease. This drug costs typically $159,000 per child a year.

Side Effects of NPC

When brain cell function is blocked NP-C children lose coordination (Gelastic Cataplexy), stumble, fall (Ataxia) and eventually need to be in wheelchairs, sleep in a hospital bed and utilize other adaptive equipment.  As the disease worsens other devastating symptoms develop including loss of the ability to speak (Aphasia), swallow (Dysphagia), laugh, remember (dementia), trouble moving eyes (Vertical Gaze Palsy) and often seizures occur.  The health of children with NPC deteriorates until ultimately, the disease claims the child’s life.

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