Rare Disease Day

On Friday 27/02/2015 I was invited to give a talk about Rare Disease Day & specifically Myasthenia Gravis.  I was so excited to do this in order to create awareness.  Below please find my speech & slideshow for this presentation:

Good morning everyone & thank you for inviting me to come talk to you about Rare Disease Day, & specifically about my rare disease, Myasthenia Gravis.  This is something I am very passionate about & I am so excited to raise awareness about this subject which is so very close to my heart.

I have a short clip that has been used as an advert for rare disease day so please sit back & enjoy.

What is Rare Disease Day?

Rare Disease Day is an annual global event on the last day of February to focus attention on rare diseases as a public health concern. It aims to raise awareness among the general public, patients and their respective families, the medical fraternity, and decision-makers about rare diseases and their impact on patients’ lives.

One of the continuing themes is that everyone knows someone affected by a rare disease. And, even though each disease is rare, together they significantly impact the public as a whole. For that reason, rare diseases are an important public health concern.

Theme for 2015

This year’s theme, ‘Living with a Rare Disease’, pays homage to rare disease patients and their respective families and caregivers whose lives have been impacted by rare disorders. The campaign advocates solidarity and togetherness and encourages the community and broader public to partake in collective action and adopt a ‘Yes we can’ approach.  People with rare diseases need to know that they can be accepted by society, supported & their whole lives are not under dictatorship of their disease.

The complex nature of rare diseases, coupled with limited access to treatment & services, means that family members are often the primary source of solidarity, support & care for their loved ones.

This is also to pay tribute to the million & millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, & friends whose daily lives are impacted & who are living day-by-day, hand-in-hand with rare disease patients.

Jeans 4 Genes

Let’s join hands by participating in the “Jeans for Genes” project by purchasing a ribbon for only R10 which allows you to wear jeans today.  All funds raised from the sale of these ribbons go towards assisting rare disease patients to receive access to treatment & supportive care in South Africa.

You can also SMS ‘Rare’ to 38232 to donate money if you would like.

This initiative acknowledges the plight of rare disease patients and their respective families whose lives have been impacted by rare disorders and encourages the public to partake in collective action by purchasing and wearing a ribbon.

What is a Rare Disease?

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear.

Rare diseases are present across the spectrum of medical conditions, & affect about 10% of the world’s population. All but a few types of cancer are rare. There are also rare neurological and neuromuscular diseases, metabolic diseases, chromosomal disorders, skin diseases, bone and skeletal disorders, and rare diseases affecting the heart, blood, lungs, kidneys, and other body organs and systems.

Typically these are chronic & debilitating & have enormous repercussions for the whole family.

Individually rare but collectively common, these are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.

Living with a rare disease becomes a daily learning experience for patients & their families.  Though they have different names & symptoms, rare diseases impact the daily lives of patients & families in similar ways.

Who is affected?

Just some stats in regard to this:

It is estimated that 350 million people worldwide suffer from rare diseases.

80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear.

Approximately 50% of the people affected by rare diseases are children.

30% of children with rare disease will not live to see their 5th birthday.

Rare diseases are responsible for 35% of deaths in the first year of life.

Treatments

Many rare diseases still have no approved treatment. And many are not even being studied by medical researchers at this time as there are not enough people that suffer from these diseases. Increasingly, patients are experiencing reimbursement problems with insurance.

Medication needed & treatments that are available are usually extremely expensive.

Problems experienced by people with rare diseases

Difficulty in obtaining an accurate diagnosis.

Limited treatment options.

Difficulty finding physicians or treatment centres with experience in treating a particular rare disease.

Treatments are generally more expensive than those for common diseases.

Reimbursement issues related to private insurance, Medicare, and Medical aid.

Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease.  A lot of doctors do not know enough about rare diseases & contraindications involved & thus can prescribe something for e.g. flu that could prove fatal.

Feelings of isolation and of having been abandoned or “orphaned” by our healthcare system.

My Story

I have always been perfectly healthy, with no problems growing up.  I never had chicken pox, mumps or even flu.

When I was 15 I began to get weak & battled to swallow, smile, talk & eventually even get out of bed on my own.  I was taken to all different doctors who told me it was anorexia, then globus hystericus, then a dairy intolerance & finally I went to a neurologist who diagnosed me with Myasthenia Gravis.  At this stage I could only swallow a quarter of a jar of baby food daily, I slept majority of the day & couldn’t function normally.

I was hospitalised immediately for many different tests, scans & x-rays & had to take a whole year off school as I was in hospital so often.

And as you can see here, there is unfortunately no cure.  It can be controlled to a certain extent, but I will never be cured.

Myasthenia Gravis

Directly translated this means “grave muscles weakness”, although thanks to medical advances this is no longer as grave as it was in previous years!  It is a chronic neuromuscular autoimmune disease & pretty much means that the message between my nerves & muscles gets blocked by my own body so nerve transmission cannot take place.

This causes varying degrees of weakness of skeletal muscles, which increases after periods of activity & improves after periods of rest.  You can definitely see a difference at the end of the day compared to when I first wake up, with the muscles most affected being those that control eye & eyelid movement; facial expression; chewing; talking & swallowing.  It can also affect breathing, as well as neck & limb movement.

Facial Muscles

This slide is simply to show how my treatment can help me.  In the first picture you can see my smile is lopsided & my eyes are not open properly.

In the second picture this has improved after treatment, & in the third it is showing how I should look with my eyes fully open & my smile back to normal!

Plasmapheresis

This is my gummy berry juice!

They insert pipes just under my collar bone or into my neck that goes into my heart, & I am then connected to a “washing machine” whereby my blood is removed & spun around very fast to separate my plasma from my blood.  The antibodies that cause my MG are in my plasma so they dispose of my plasma, & then my blood is returned along with the replacement plasma.  I have to be in ICU throughout this treatment due to the high risks & the total cost is roughly R150,000 for 5 sessions.  

Surgical Procedures

2 months after I was diagnosed I underwent a Thymectomy whereby my thymus gland behind my sternum was removed.  This has been found to be linked to MG & often the antibodies are being produced here & these fortunate people can go into remission once they have had their thymus removed.

Surgery poses a huge risk for someone with MG due to your lowered immunity & there are huge anaesthetic risks.  Every time I have gone in for an operation I have been told there is a chance I may not wake up due to my muscles not being able to cope with being made weaker & put under.  I have ended up on a ventilator in a coma after once operation as I developed pneumonia & my body could not fight this.

Medication

These are some of the different options of medication that I have had.  They are all immune suppressants to try prevent my body from attacking itself.  Methotrexate is a type of chemo which I was on for 8 years, which of course has had long term effects on my body.

At one point I was taking close on 50 tablets a day, but luckily am down to only 16 currently which costs over R3,000 a month.

Conclusion

Thank you so much to each & every one of you for coming to listen to me today.  I really do appreciate your patience & time.  Please if you have any questions, feel free to ask & I shall answer to the best of my ability.

So please, if you have any questions of your own, please comment & I will get back to you as soon as I can!  Visit www.rarediseases.co.za for any further information - I have found them so helpful & understanding.  Definitely worth getting involved!