Be Kind Everyone You Meet is Fighting a Hard Battle – Especially those on The Journey of Care Fighting a Rare Disease

You may have heard the term “Orphan Disease” and wondered what in the world could that mean? Unless you were able to research the term and take some time to read about it, or unless you know someone who lives with an Orphan Disease, you still may be curious. Orphan Diseases are rare diseases that affect fewer than 200,000 people in the United States. Many are often chronic, progressive, debilitating, and life-threatening. Most are genetic in origin, thus they disproportionately affect children.

There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day due to advances in our understanding of the human genome and commensurate advances in our ability to diagnose genetic disorders.
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population. Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases. If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country according to the Global Genes Alliance in Rare Disease web site.
In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease.

Here are some additional facts about rare diseases publish by Global Genes, The Kakkis EveryLife Foundation, The National Institutes of Health and Pharmaceutical Research and Manufacturers of America:
• 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
• The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
• According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
• During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
• According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
• Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
• The National Institutes of Health estimates that 50 percent of people affected by rare diseases are children, making rare diseases a particularly deadly and debilitating concern for children worldwide. Rare diseases are responsible for 35 percent of deaths in the first year of life and 30 percent of children with a rare disease will not live to see their fifth birthday.

The RARE List™ is comprised of approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide. Additionally, here is a List of Genetic Disorders published by About Kids Health. Therein you will see diseases that may be less familiar to you like Batten Disease, Duchenne muscular dystrophy and Neurofibromatosis among many others.

Many families that are on The Journey of Care, with a child who has a rare disease, are left to fend for themselves. Found with very little support in some cases due to less mature condition-specific support network development, little information is available and in many cases these families must raise significant funds through their own efforts as they grasp for every opportunity to help their child. In a recent Charity Miles interview, Gen Gurkoff talked with Julia Vitarello in Boulder, Colorado. Julias daughter Mila has Batten Disease, a rare and fatal neurodegenerative disease. The description of Julia journey in this interview is at times very difficult to listen to but very enlightening. Her description of the experience her family went through — from concern, to shocking diagnosis, to their hunt for a treatment and fund raising effort is inspiring.

They have a ray of hope because, they were able to get a clinical trial approved through Harvard University in Boston Children’s Hospital and are in the process of raising the money in order for the trial to go forward. If you’re as moved by their story as I am, you may want to visit their GoFundMe Page. They need to raise $700K by December 20th to make this happen for Mila and they are getting very close to their goal.

If you know someone on a similar journey it may be helpful to point them to the list of Medicines in Development for Rare Diseases.

Tom Nieman is a Founder and President of The LIV Foundation and a financial services industry veteran. The best place to reach Tom is active on LinkedIn or you can email him at

If you want to learn more, need help or know someone who needs help check out the following resources:

The Children’s Hospital of Philadelphia Department of Social Work and Spiritual Care:

The LIV Foundation:


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