the long term impact of rare diseases challenges faced by...
TRANSCRIPT
The long term impact of Rare Diseases – Challenges faced by patients and caregivers.
What our year entails…
Specialist appointments
Cardiologist = 2Neurologist = 3Paediatrician = 6Endocrinologist = 2Gastroenterologist = 2Pulmonologist = 2
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
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)
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…
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…
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
The daily struggle….
Mom has a glass of wine whilst rocking quietly in the corner =365 days a year - 30 minutes
Emotional Impact
- How long is the race?
- Siblings?
- High Divorce rate
- Financial constraints
- Depression / Anxiety
- PTSD
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
HOW DO WE MOVE FORWARD??
Treatments
Education
Medical Aids
FriendshipsFamily
Marriage
Work
Siblings
AppointmentsExercise
Therapy
HOW DO WE MOVE FORWARD??
What did I think about palliative care?
What SHOULD it FEEL like?
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…
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
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
Bridging the Gap
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
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)
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?
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?
LIVING BEYONG phase = the dream!
- Increased life expectancy
- Reduced mortality
- No longer “acutely” ill
- Emotional Toll
WE MOVING FORWARD!
IS THAT THE PROBLEM?!?!?!?!
www.rarediseases.co.za