the long term impact of rare diseases challenges faced by...
TRANSCRIPT
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The long term impact of Rare Diseases – Challenges faced by patients and caregivers.
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What our year entails…
Specialist appointments
Cardiologist = 2Neurologist = 3Paediatrician = 6Endocrinologist = 2Gastroenterologist = 2Pulmonologist = 2
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What our year entails…
Physio appointments
NDT = 52 (once per week) – 45minOccupational Therapy = 52 (once per week) – 45minSpeech Therapy = 52 (once per week) – 30minFeeding therapy – as requiredCBT – 24 (2 per month) – 45min
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What our year entails…
Treatments
ERT infusions per year = 24 per year ( 5 hours long) Mixing regiment = 24 per year (2 hours long) Port access = 24 per year (15 min) Pharmacy trips = 12 per year (45min) Packing weekly meds = 52 (weekly) – 30 mins General stock take = 2 per year (1 hour)
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What our year entails…
Miscellaneous
Orthotics = 2 per yearDental = 2 per yearBone Dexa scan = annually Liver Ultrasound = annually Blood draws = 2 per year Brain MRI = annually Coordination of appointments etc = 1 hour per monthMedical aid claims – endless…
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What our year entails…
Miscellaneous
Orthotics = 2 per yearDental = 2 per yearBone Dexa scan = annually Liver Ultrasound = annually Blood draws = 2 per year Brain MRI = annually Coordination of appointments etc = 1 hour per monthMedical aid claims – endless…
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Almost 450 hours per year on providing medical care…
Before- Being a wife- Holding down a job- School and educational requirements/ meetings- Normal kids stuff (eating, parties, meltdowns)- Sibling rivalry - Being a mom to healthy kids (ballet, gymnastics, sports)- Maintaining friendships - Staying healthy – exercise / gym
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The daily struggle….
Mom has a glass of wine whilst rocking quietly in the corner =365 days a year - 30 minutes
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Emotional Impact
- How long is the race?
- Siblings?
- High Divorce rate
- Financial constraints
- Depression / Anxiety
- PTSD
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Global Genes & N.A.C Survey
• 1400 families impacted by Rare Diseases• Most respondents don’t relate to being a caregiver – rather a
mom / spouse • On average. 53 hours per week providing care vs 30 for
general childcare• 8.9 years on average • 74% struggle with sense of loss • 53% report feeling alone• 51% have difficult maintaining friendships• 94% have taken on advocacy role
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HOW DO WE MOVE FORWARD??
Treatments
Education
Medical Aids
FriendshipsFamily
Marriage
Work
Siblings
AppointmentsExercise
Therapy
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HOW DO WE MOVE FORWARD??
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What did I think about palliative care?
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What SHOULD it FEEL like?
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The WHO Definition
Palliative care is an approach
improves the quality of life of patients
and their families facing the problem associated with life-threatening illness,
through the prevention and relief of suffering…
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Approach: a way of dealing with a situation or problem
Improves: makes better/ increases
Qualities: standards
And: to be taken jointly
Prevention: to stop something
Relief: the alleviation of pain and discomfort
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Palliative care is an approach improves the quality of life of patients and their families facing the problem associated with life-threatening illness, through the prevention and relief of suffering
=Palliative care is a way of dealing with a situation, thatincreases / betters the standards of life of patients jointly with their families, through stopping of (suffering) and the alleviation of pain and discomfort
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Bridging the Gap
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Barriers to accessing appropriate care…
•Bias based on culture/race/age•Fear•Lack of awareness•Myths / Ignorance
•Available testing•Doctors knowledge & awareness•Lack of referral systems•Financial constraints•Logistic limitations
•Doctors knowledge & awareness•Lack of referral systems •Economic climate•Funding decisions in state/ private•Lack of treatment options•Unregistered medications•Clinical Trials •Insufficient Capacity
•Pioneering/new area•Economic•Fear•Transport•Compliance•Patient Education•Social
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Symptom phase
- Vague, mimic common issues- Can be aggressive, or can take years to manifest into something which requires attention- Symptoms are generally not life threatening = only accumulateInto overall condition which then becomes life threatening(if focusing on symptoms alone – doesn’t make strong case)
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Diagnostic phase
- 7,2 Years = stagnated care
- Lack of diagnostic facilities – Expensive, lack of capacity/ equipment
- Overseas testing? Confusion on what available in SA
- No confirmed diagnosis – no ICD code – no funding
- No diagnosis?
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Acute phase
- Cost of treatment – funding struggle- Treatment not available locally- Clinical trials – strictly regulated- Limited doctors knowledge on disease
- 95% of RD have no commercial treatment?
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LIVING BEYONG phase = the dream!
- Increased life expectancy
- Reduced mortality
- No longer “acutely” ill
- Emotional Toll
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WE MOVING FORWARD!
IS THAT THE PROBLEM?!?!?!?!
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