Battle of Rare Disease Underdogs February 21 2015

At the time my father-in-law was diagnosed with Amyloidosis 25 years ago, my friends in the medical profession surprisingly knew about the disease by virtue of it being rare. It was something of a poster-child for rare diseases to those studying to become doctors. It is strikingly odd to me that it would be the representative disease knowing there are as many as 7,000 identified rare diseases.

In a weird way it brought some comfort to get a nod of understanding from friends practising medicine along with the compassion for what we were facing and what my father-in-law was tortured by. More often, our family was alone in the experience with Amyloidosis. Emotions come by the dozens when you are forced to deal with a rare disease. The disease isolates you with the feeling that you are the only one hit by it. At the same time, it binds you to a broader circle of people with other rare diseases who fight like underdogs to find answers.

Drawn to Rare Disease Community for Second Time

While I cannot relate directly to the feelings of a person who is suffering from a rare disease, 24 years after my father-in-law died from Amyloidosis, I have become part of the rare disease community for a second time. This time from a different perspective. My dread now comes from being a carrier to a disease that took some rehearsing to learn how to pronounce – Metachromatic Leukodystrophy – simplified by the MLD acronym. The gene is also carried by my two children.

Worse than being a carrier is watching my sister’s granddaughter gradually lose all of her abilities to move, talk, and eat and knowing she will likely succumb to MLD within the next three years. The wave of emotions come and go between an effort to remain strong, supportive and even positive, as all concerned cope with the sadness and daily challenges. As a collective family unit we endeavor not to dwell on the inevitable, but to stay focussed on bringing joy to young Hailey and easing the struggle for her parents where possible.

Earlier this week I joined a Twitter Chat following #abcdrbchat about rare diseases. It was a prelude to Rare Disease Day on February 28. I was surprised at my own mix of emotions reading through the flurry of chatter. I felt a bit numbed by the host of voices. Much of the 140-character Twitter exchange touched on the basics of awareness of rare diseases and defining stats such as, fewer than 200,000 known cases of rare disease in the U.S. and 75% of rare diseases affect children. I was impatiently craving to see posts about progress and resolutions.

Hope for Progress

Not being directly afflicted by MLD, I often feel like a bystander – confused and baffled about how to act or help. Regardless of the effort I make, it never seems like enough. In truth, it is the collective effort that matters and the inspiration that we feed to one another to push harder that moves us forward.

There is a natural fascination with numbers stating how rare a disease is, but it is a double-edged sword. None of us would wish for more people to battle a rare disease for the benefit of more attention. And, logically, diseases that affect a high percentage of the population warrant the attention of funding to find cures and treatments. It is an undeniable dilemma. From time to time some rare diseases receive notoriety from unexpected places. Amyloidosis was a subject case on an episode of the House TV series.

For the most part, rare diseases are the underdogs with few champions to address the needs for early detection, medical expertise for treatment and research funding for cures. Progress is often achieved through grass-root efforts and dogged determination of select individuals who live and breathe by the four letter word “hope”. They are the drivers of success.

Today when you look for information and support for Amyloidosis, it takes minutes to find answers as opposed to weeks of searching that it took my sister-in-law (even with her Masters in Library Science) 25 years ago. The National Organization of Rare Diseases (NORD) is a great resource with their rare disease database. There are trials, treatments, detailed reports and encouragement to those newly diagnosed. The road to a cure is still a long one – for both MLD and Amyloidosis. We will get there sooner with more champions and supports pulling together. With the help of the internet and benefits of social media, organizations are gaining momentum, with a means of broad communication for initiatives such as the Rare Disease Day.

MLD has the force of Bethany’s Hope Foundation behind it in Canada. They are making great strides in research and are campaigning for 2018 to begin trials on patients. The fundraising by the Hailey’s Dreams Foundation has recently expanded to combine forces with Bethany’s Hope to bring greater strength to both organizations.

Action to Take on Rare Disease Day

My hope is for the Rare Disease Day to result in greater awareness that leads to concrete action and tangible outcomes.

My wish is for more people to make charitable donations to rare diseases and the foundations charged to combat them.

My dream is for my children to look back on the progress by the medical community on MLD with comfort that the gene they carry will not result in horror to coming generations of our family.

I will close with a list of options for you to take on Rare Disease Day and with gratitude for taking the time learn more about the subject.

  1. Buy one or more of the Hailey’s Dreams Princess books. The Princess of Freddy Beach is great inspiration for how a community can stand behind a family battling a rare disease. Princess Pinch Me is a beautiful children’s story of compassion told through the eyes of a seven-year-old. All proceeds from the books go to the Hailey’s Dreams Foundation
  2. Donate to Hailey’s Dreams through this website. You can select multiples of $25 to total the amount of your choice.
  3. Donate to the Hailey’s Dreams Foundation in any amount of you choosing and learn more about Hailey on the official website.
  4. Follow Hailey's Dreams on Facebook or check out our Princess Books page on Facebook and author on Twitter.
  5. Donate to Bethany’s Hope Foundation to help further the research for MLD.
  6. Donate to Amyloidosis Foundation.
  7. Donate to any of Rare Disease Day, CORD or NORD.
  8. Say thanks to the organizers of the Rare Disease Day for their efforts and accomplishments by sharing their video
  9. Say thanks to ABC News for their coverage and Dr. Richard Besser for sharing with his followers on Twitter #abcdrbchat @ABC and @DrRichardBesser
  10. Tell us if you find other ways to help people battling a rare disease.