I get asked all the time why I am so passionate about RARE Disease.  I get asked even more why I have volunteered for the last 8 years for rare disease, without pay.  Individuals who have not encountered rare disease, or really thought about it for that matter, truly become confused by my drive and dedication – especially when it comes without a paycheck. Yet, even during this economic instability we have been facing over the last couple of years, and my bare minimum income after a divorce – the answer to fight for rare disease is still a simple answer for me:

Because rare disease affects me and millions of others.  We need to raise awareness and start making it a priority.

The more we ignore the reality of what is occurring around us, the greater the difficulty to fix the problem later on.  

In my family alone, we have had countless disease and rare disease sufferers generation after generation.  And, it never occurred to me until now – how much it has affected my family – mentally, financially, and of course – physically.

Here’s the list:

My mom:   Diabetes, Graves Disease, COPD (Diabetes was once considered rare) Graves’ disease is a rare disease affecting the thyroid gland and often the skin and eyes.

Dad:  Multiple Sclerosis (Consistently battles his disease, with occasional liver/kidney/eye failure) Multiple sclerosis is a chronic neuroimmunologic disorder of the central nervous system involving the brain, spinal chord and optic nerves.

Great Uncle:  Neurofibromitosis (They called it Elephant Man’s Disease – he died at age 22) – Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. )

Aunt:  Alzheimers/ Dementia (Progressing quickly – She has Binswanger disease – a progressive neurological disorder)

Grandfather:  Severe Rheumatoid Arthritis (This is a rare disease in children – he died from complications of RA)

My Son:  Russell-Silver Syndrome (Has a fresh mouth at the age of 8.5 – but, managing his disease day by day)

Me:  Neurofibromitosis (I currently have a nerve sheath tumor in my left arm that needs to be removed.) (Still waiting for final confirm from Genetics)

My mom has struggled to keep herself and her husband healthy, through constant recurrences of MS attacks and recurring pneumonia – they have exhausted any financial gains they have acquired over the years and occasionally wonder if the next hospital visit is going to push them over the edge.

My Aunt took care of her mother to the age of 102.  Now, my Aunt struggles to remember where she is and why she is living with her daughter instead of relaxing in her own home (wherever that is).

My Great Uncle and Grandfather passed away at young ages – obviously, my grandfather old enough to have me in his life until I was 7 years old – but, they both suffered greatly.  Suffering from social disparity was just a small part of their pain – as their diseases were physically overbearing.

My son goes through stages of anger, denial, and self-doubt.  He wants to be a football player – and his doctors tell him NO.  With the disproportion of his head compared to his slight body frame – the danger of concussion and bone breakage is too great.  This recent news has deflated him and his desire to be “normal” is even more great.  My heart pours out for his tender ego and sweet heart.  I love him so.

For me?  Well, I choose not to have the tumor removed.  I’m too busy and I have more important things to concentrate on – taking care of everyone else.  Besides – I am currently without health insurance and could not afford the $40,000 or more that it would take to have such delicate surgery of the nerve.  I’m not ready to take the chance of having loss of any feeling in my arm – AND – really, the financial aspect is the biggest drawback.  No.  My arm rarely hurts and the tumor is not going anywhere.  I’m fine.

So, we have addressed the physical burdens of rare disease.  The emotional drawbacks.  The financial dependence and inability to pay for much of the treatments necessary to follow-through with maintenance.

It’s disappointing, to say the least – we as a society are so focused on so many things that only focus on our immediate wants, needs and desires – that we are failing to focus on the future.  We have failed to integrate technology, politics, education and patient centered care (for the most part) toward a much needed cause – RARE DISEASE.

For me, I find happiness in knowing that even if I make a difference in the life of one person with rare disease – I am effectively making a difference for my family too. And I will do anything to make it to the top.

Heather Earley
Global Genes volunteer