the long term impact of rare diseases challenges faced by...

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