Niemann-Pick diseases are a group of rare inherited storage disorders that can affect both children and adults. There are three bands to this disease A, B & C. Please see the NPUK website for more information.
We here at the brave little soldiers are here to raise vital funds for NPUK's ongoing research and for their support in helping not only our own family but those of others also affected. All monies raised by us will go directly to NPUK.
Take a look at "Our Story". This is our inspiration and motivation behind our fundraising.
Harvey was diagnosed with the rare neurogenetic disease Niemann-Pick Type C (NP-C). This is a very rare progressive disorder characterised by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of the cells. This leads to an abnormal accumulation of these substances within various tissues of the body, including brain tissue. The accumulation of these substances damages the affected areas.
Signs and symptoms
Individuals with NP-C can have an onset of symptoms at different ages and they can vary from person to person. It is important to note that affected individuals will not have all of the symptoms listed below and that every individual case is unique. Parents should talk to their child's doctor about the specific symptoms and overall prognosis.
Jaundice at (or shortly after) birth
An enlarged spleen and/or liver
Difficulty with upward and downward eye movements- to compensate, they may blink their eyes or jerk their heads
Unsteadiness of gait, clumsiness, problems in walking/ drawing and writing
Difficulty in posturing of limbs
Slurred, irregular speech
Learning difficulties and progressive intellectual decline
Sudden loss of muscle tone which may lead to falls
Tremors accompanying movement and, in some cases, seizures
Swallowing problems- eventually a feeding tube may be required to maintain adequate nutrition.
There is currently no cure for Niemann-Pick Disease Type C (NP-C), although patients benefit from palliative treatments (individual medications that will help to treat the symptoms related to the condition). Occupational therapy can be used to help with posture, speech and movement.
The incidence of NP-C is widely reported at 1 in 120,000, although recent evidence suggests this may be an under-estimate.
At present there are currently only less than 100 patients in the UK and only around 500 cases known worldwide. A child with NP-C will often experience quick and progressive mental and physical deterioration over the course of several years- similar to Alzheimer's disease hence its nickname childhood Alzheimer's.
Like Alzheimer's, NP-C currently has no cure and leads to death. What makes this particular disease so difficult to diagnose is the symptoms are non-specific to the disease and will vary from person to person.The age of onset and rate of disease progression can vary greatly from person to person; for example some children develop neurological symptoms early in childhood, whereas others may remain symptom free for a number of years.
NP-C is an extremely scary and uncertain disease which unfairly affects our most vulnerable- children. However in recent years, thanks to the hard work of individuals and charities such as NPUK, there is more research than ever happening right now!
There are a number of clinical trials currently taking place investigating new therapeutic options for patients with NP-C. This is the driving force behind our fundraising as these medical trials could not take place without vital funding. NPUK do NOT receive any funding from the government and rely solely on kind donations and successful grants.
Meet Professor Fran Platt who is a professor of bio chemistry and pharmacology at the university of Oxford. Here she speaks of research into Niemann-Pick Type C and the progress that has already been made over the last two decades since NPUK was formed back in 1997. Her research would not be possible if it wasn't for the vital funds raised.
"It's a long journey....but i think we are in the nearer now where there is such rapid progress that we will start seeing combination therapies, moving into clinical trials and hopefully in 5 years time have a completely different profile for patients with this disease. We will be significantly slowing disease progression and improving quality of life for the patients and their families"
Meet Professor Marc Patterson who is a professor of neurology, paediatrics and medical genetics.
Meet also Paul Gissen who is a honorary consultant in paediatric metabolic diseases at Great Ormand Street Hospital.
In this video they both explain in detail what Niemann-Pick Type C is from a medical point of view.