We are a Non Profit 501c3 Charity dedicated to Getting Treatments for Niemann Pick Type C out of the lab and into the patients, in time to save this generation of NPC kids. Our parents, supporters and many devoted volunteers raise thousands of dollars for research each year. We seek to educate, enable and empower our community members. We have no political affiliation, are non denominational and are honored you are interested in supporting our cause.
WHAT CAUSES NPC
One inherits a mutated chromosome 18 pair, one damaged chromosome 18 came from each parent (you have a pair of each chromosome in your body.) This happened because Mom and Dad each have one mutated chromosome 18 and one normal chromosome 18. In order to have Niemann Pick Type C you must have two mutated chromosomes. If you only have one you are unaffected and known as a carrier. In each pregnancy where both parents carry the defective gene there is a 25% chance the resulting bundle of joy will have Niemann Pick C. The child has a 50% chance of just getting one mutation and being a carrier and a 25% of not having either mutation at all. A decade ago there was no way to test in-utero for the disease, it is now possible. When a specific mutation is known, then it is possible for concerned family to be tested for the specific mutation. Genetic Testing is quite expensive and not all insurance carriers will cover preventative genetic testing (for lack of a better way to word it.) Thus far approximately 20% of the gene has been mapped. There are 300 known NPC mutations since the disease was discovered. Because there are so many different mutations and so many still unknown it is very difficult to determine how fast the disease will progress.
WHAT DOES NPC DO?
Unfortunately, a lot of things and they aren’t good. Not every person with NPC has the same symptoms and not every person with NPC experiences the same severity of symptoms. Below is a list of things that you can expect in the course of NPC progression.
Supra Nuclear Gaze Palsy: it sounds like a cool super power, but it has to do with the way an NPC child sees things. An early indicator of NPC is the inability for a patient to look upward without also moving their head in that direction. As the disease progresses it may be easier for children to see from their peripheral vision. To increase their comfort and prevent straining it may be best to have them sit or lie with their head in a preferred direction when watching something.
Splenomegaly: An enlarged spleen is an additional early indicator of an NPC diagnosis. Sometimes their spleens become so large and the abdomen becomes so distended it can interfere with breathing and eating. It is very uncomfortable for these children and restricts the clothes they are comfortable in and activities they can do. It is highly unlikely someone’s spleen will rupture (infarction) from day to day life but some physicians may want to discuss the possibility of splenic removal or splenic embolism. An embolism involves cutting off the blood flow to part of the spleen so the tissue dies off and is absorbed by the body. This reduces the size of the spleen. It is not standard practice to do this at this time in NPC but may be appropriate in some cases. The reason the spleen gets so large is due to accumulation of lipids and cholesterol in the cells. An important question that is on the table and being explored is: where else would these cells accumulate if an organ is removed? When we touch upon accepted treatment practices you will learn about gangosphingolipidosis and the spleen. Further consideration when contemplating splenic removal is the role the spleen plays in overall immune health.
Enlarged Liver: Another early indicator of the disease, an enlarged liver, can lead many physicians to look for additional diagnosis ahead of NPC. The broad Cholestatic liver disease, giant cell hepatitis and biliary atresia are diagnoses that are sometimes initially considered in these children. For many that are born with liver disease it mostly resolves on its own within the first few years of life, lulling some families into a sense of security that the scary part is behind them. Some children present at birth with severe liver disease and suffer with ascites and succumb within the first few months of life. In the event this is the suspected course NPC will take there have been families told they only have weeks with their children who have celebrated happy and full third birthdays against odds.
Low Tone: Some pediatricians will consider Cystic Fibrosis diagnosis or other neurological diseases with indications of low muscle tone. Children diagnosed in toddlerhood often don’t walk or stand on their own, their milestones aren’t appropriately hit. Parents frequently reporting sweaty children and since they are often besieged with colds and respiratory illness due to the nature of the disease the thought is a logical one. As the disease progresses some parents report thermoregulation issues, or trouble keeping them warm or cool enough in their environments.
Failure to Thrive: This label may be applied to children in their early years prior to an NPC diagnosis being made. These children are typically thin and unable to gain weight. Sometimes this is due to dysphagia, swallowing issues, that prevent adequate calorie intake. This is easy to address with NG, NJ, or Gastronomy tubes to insure nutritional needs can be met while being consious of aspriation risks in NPC patients.
Dysphagia: Swallowing difficulty, as the disease progresses NPC children will lose the ability to swallow. First they will have issues with thin liquids, aspirating them into the lungs. Thickners such as Allegra Medical's "Thickit" can we added to liquids to make them easier to swallow.
Aspiration: Liquids and food particles can get into the lungs, either from swallowing or reflux and cause pneumonias. This is very common in children with NPC