RARE DISEASE DAY --- ALONE WE ARE RARE. TOGETHER WE ARE STRONG.
If we had not been thrown into the rare disease world on August 20, 2010 when we learned that Ethan had PBD-ZSD, I probably would have never learned or even heard about PBD-ZSD and Rare Disease Day.
PBD-ZSD is just one of thousands of rare diseases. Tomorrow is dedicated to uniting the rare disease community, because while "ALONE WE ARE RARE. TOGETHER WE ARE STRONG."
Rare Disease Facts (globalgenes.org)
- In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans.
- Rare and genetic diseases affect 1 in 10 Americans (30 million people in the US) and 300 million people globally!
- Over 7,000 distinct rare disease exist and approximately 80% are caused by faulty genes.
- The National Institutes of Health estimate that 50% of people affected by rare diseases are children, making rare diseases on of the most dealdly and debilitating for children worldwide --- 30% of the children with rare diseases die before the age of 5!
- 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 EveryLifeFoundation, 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.
Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) is a rare, genetic, metabolic, terminal condition affecting all major systems of the body.
- PBD-ZSD includes a wide range of phenotypes that were formerly classified into 3 groups: Zellweger Syndrome, Neonatal Adrenoleukodystrophy (NALD), and Infantile Refsum Disease (IRD). As the understanding of the wide spectrum of this disorder has grown, there has been a movement away from the original classifications of NALD and IRD and now a greater acceptance of the terminology Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder (PBD-ZSD). The terminology Zellweger Syndrome is still typically used to describe infants that display the characteristics of the most severe phenotype of PBD-ZSD.
- Children with PBD-ZSD commonly experience sensorineural hearing loss, vision loss, hypotonia, seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency.
- PBD-ZSD is inherited in an autosomal recessive manner, and the prevalence of PBD-ZSD has been estimated at approximately 1 in 50,000 live births.
- Approximately 80 children are born each year in the United States with PBD-ZSD. However many of these children will never be diagnosed properly.
- Nearly half of all children with PBD-ZSD die before their first birthday, many live for just weeks, and the majority of children will not live past the age of 10 (although there are a handful of children who live into their teens and beyond).
I had never expected to be part of the rare disease community and the GFPD, and to be honest I wish I wasn't. I wish that Ethan was healthy and that PBD-ZSD wasn't impacting every aspect of his and our lives, but that just isn't our reality. However, I have to say that I have met some of the most amazing, strong, and faithful people along this journey. We share the hope that someday treatments and a cure will be found for the rare diseases that impact the ones we love. Until then we are diligently involved in raising awareness for our specific disease(s) and for the rare diesease community at large.
Many of the members of this new family share my faith in the Great Physician and know that while our children may not be cured this side of heaven, that there is indeed HOPE. We are not hopeless, although there are many times that this journey feels that way, particularly when the path seems to be filled with more rocks and bumps than any person should ever have to endure, but we don't even in the midst of the darkest days forget that the Lord loves us.
We hold on to the promise found in Romans 8:28 (NIV), "And we know that in all things God works for the good of those who love him, who have been called according to his purpose." We may not understand why things are the way they are but we know that we serve a God who is bigger than these diseases and that He is on this journey with us.