Module: Perspectives of Complex Care in Adult Nursing
Module Code: AA0512
Module Lead: Jane Douglas
Student Number: 20019665
PT Group: PT18
Personal Tutor: Sue Tiplady
Submission Date: 19th May 2022
Word Count:2146
In Submitting this assignment, I declare that it is my own work.
, This assignment will analyse the role of the nurse in delivering key interventions for a patient
with complex needs. This assignment will be focusing on Niemann-Pick disease Type C in
adults, which is a rare progressive genetic disorder, fatty substances are prevented from being
efficiently broken down. This inability leads to rapid accumulation that damages vital organs
(Medical News Today, 2021). This rapid accumulation causes an abnormal build-up of these
substances within numerous tissues of the body, including brain tissue. Niemann-Pick is
variable, and the age of onset and specific symptoms can be different in every individual. It
can vary from being a fatal disorder in the first few months after birth to being a late onset
and being a chronic progressive disorder which may not be diagnosed until late adulthood.
(Rare Diseases, 2017). The role of the nurse will be that of community-based care, there will
be a variable degree of MDT involvement regarding the severity of the symptoms although
there may be a large number of different professionals involved to manage signs and
symptoms as there is no cure at present for Niemann-Pick. The impact on the patient and
family can be severe as from 1993-2002, 14% of patients to be diagnosed with Niemann-Pick
were over 20 years old (Vanier & Millat, 2003), this will mean a complete lifestyle change
for the patient as the symptoms of Niemann Pick can be life changing, it can lead to loss of
mobility, difficulty swallowing and eating, recurrent chest infections/pneumonia and dystonia
(excessive muscle contractions) (Patterson MC, 2016). The impact on family can be that they
become carers for the patient and may impact their jobs and the lifestyle they are used to. It
can impact the housing arrangements as they may need equipment such as hoists, a wet room,
wider door frames for their wheelchair if they need one. The author has personal experience
caring for a patient who is diagnosed with Niemann-Pick disease, this has related to the
authors professional development by providing skills such as tracheostomy, peg feeding,
communication needs and personal care. This is important for nursing as it allows nurses to
learn the impact on family, the patient, the art of noticing for different symptoms and needs
that the patient may need. The need for health care assistants in the community and the
community-based care can then avoid hospital admissions therefore alleviating the patient
from being in their own environment and takes pressure off the family if they are providing
care.
In adults, the signs and symptoms include ataxia which is the loss of muscle control in arms
and legs which can result in a loss of balance, coordination, and trouble walking (Hopkins
medicine, no date). Speech difficulties, abnormal eye movements, severe liver disease,
enlarged liver and spleen, and difficulty feeding. These are caused as the build-up of lipids as
well as the cell dysfunction results in cell death, which causes tissue and organ damage.
Cellular build-up of the unmetabolized products is displayed as polymembranous cytoplasmic
bodies, numerous other physical fluctuations are present in many neurons although the
pathogenic cascades leading to these changes are indistinct. Neurofibrillary tangles (NFTs)
which are irregular build-ups of a protein called tau that gathers inside neurons which directly
correlated with neuronal dysfunction, are regularly seen in NPC disease and Alzheimer’s
disease. NPC is known to have a noticeable neuro-inflammatory component which is
comparable to numerous neurodegenerative diseases. Although many neurons are capable of
surviving myriad morphological changes and cellular insults for years, neurodegeneration
does happen in NPC disease, the greatest prominent being the patterned cell death of NPCs in
the cerebellum. Individuals with Type C Niemann-Pick Disease are known to experience a
progressive deterioration in intellectual function and may survive into adulthood.
Speech difficulties can be caused which then may cause difficulty with swallowing which can
then lead to dysphagia, in a study done by Waterfang, Chien et al, it was found that 55% of
patients with Niemann-Pick disease, had dysphagia. Quantative data suggests that
Module Code: AA0512
Module Lead: Jane Douglas
Student Number: 20019665
PT Group: PT18
Personal Tutor: Sue Tiplady
Submission Date: 19th May 2022
Word Count:2146
In Submitting this assignment, I declare that it is my own work.
, This assignment will analyse the role of the nurse in delivering key interventions for a patient
with complex needs. This assignment will be focusing on Niemann-Pick disease Type C in
adults, which is a rare progressive genetic disorder, fatty substances are prevented from being
efficiently broken down. This inability leads to rapid accumulation that damages vital organs
(Medical News Today, 2021). This rapid accumulation causes an abnormal build-up of these
substances within numerous tissues of the body, including brain tissue. Niemann-Pick is
variable, and the age of onset and specific symptoms can be different in every individual. It
can vary from being a fatal disorder in the first few months after birth to being a late onset
and being a chronic progressive disorder which may not be diagnosed until late adulthood.
(Rare Diseases, 2017). The role of the nurse will be that of community-based care, there will
be a variable degree of MDT involvement regarding the severity of the symptoms although
there may be a large number of different professionals involved to manage signs and
symptoms as there is no cure at present for Niemann-Pick. The impact on the patient and
family can be severe as from 1993-2002, 14% of patients to be diagnosed with Niemann-Pick
were over 20 years old (Vanier & Millat, 2003), this will mean a complete lifestyle change
for the patient as the symptoms of Niemann Pick can be life changing, it can lead to loss of
mobility, difficulty swallowing and eating, recurrent chest infections/pneumonia and dystonia
(excessive muscle contractions) (Patterson MC, 2016). The impact on family can be that they
become carers for the patient and may impact their jobs and the lifestyle they are used to. It
can impact the housing arrangements as they may need equipment such as hoists, a wet room,
wider door frames for their wheelchair if they need one. The author has personal experience
caring for a patient who is diagnosed with Niemann-Pick disease, this has related to the
authors professional development by providing skills such as tracheostomy, peg feeding,
communication needs and personal care. This is important for nursing as it allows nurses to
learn the impact on family, the patient, the art of noticing for different symptoms and needs
that the patient may need. The need for health care assistants in the community and the
community-based care can then avoid hospital admissions therefore alleviating the patient
from being in their own environment and takes pressure off the family if they are providing
care.
In adults, the signs and symptoms include ataxia which is the loss of muscle control in arms
and legs which can result in a loss of balance, coordination, and trouble walking (Hopkins
medicine, no date). Speech difficulties, abnormal eye movements, severe liver disease,
enlarged liver and spleen, and difficulty feeding. These are caused as the build-up of lipids as
well as the cell dysfunction results in cell death, which causes tissue and organ damage.
Cellular build-up of the unmetabolized products is displayed as polymembranous cytoplasmic
bodies, numerous other physical fluctuations are present in many neurons although the
pathogenic cascades leading to these changes are indistinct. Neurofibrillary tangles (NFTs)
which are irregular build-ups of a protein called tau that gathers inside neurons which directly
correlated with neuronal dysfunction, are regularly seen in NPC disease and Alzheimer’s
disease. NPC is known to have a noticeable neuro-inflammatory component which is
comparable to numerous neurodegenerative diseases. Although many neurons are capable of
surviving myriad morphological changes and cellular insults for years, neurodegeneration
does happen in NPC disease, the greatest prominent being the patterned cell death of NPCs in
the cerebellum. Individuals with Type C Niemann-Pick Disease are known to experience a
progressive deterioration in intellectual function and may survive into adulthood.
Speech difficulties can be caused which then may cause difficulty with swallowing which can
then lead to dysphagia, in a study done by Waterfang, Chien et al, it was found that 55% of
patients with Niemann-Pick disease, had dysphagia. Quantative data suggests that
