Skip to main content

RARE DISEASE DAY --- ALONE WE ARE RARE. TOGETHER WE ARE STRONG.

World Rare Disease Day is tomorrow (February 28, 2013). This year's theme is "Rare Disorders without Borders! There are Rare Disease Day events going on throughout the United States and around the world sponsored by and affiliated with numerous organizations.

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.
PBD-ZSD Facts (www.thegfpd.org)
  • 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).

Thankfully PBD-ZSD is one of the rare diseases that has a disease specific foundation supporting and researching their rare disease.  The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD).  GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD.  Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. 

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.

Would you please lift up those impacted by rare diseases in your prayers today, tomorrow, and whenever you think of us? We need treatment options, we need cures. We need hope for a better tomorrow for those that we love who are impacted.

Comments

Popular posts from this blog

"God Chooses Mom for Disabled Child" by Erma Bombeck

I don't think this is exactly how it works, but I had to share anyway. I believe with all my heart that God does not make mistakes, and although I will fully admit that it hurts my heart that any child is born (or develops) disabilities and/or life threatening illness, I know that God is sovereign and that He has a divine plan (even when we don't understand it!). I believe that God brought Jeff and I together and that He knew Ethan even as he was growing inside of me. While this is not the journey we would have dreamed of or chosen, and there are going to be times (and have been already) when we struggle, stumble and fall  it is our hope that in the end that we will bring glory and honor to the Lord.  God Chooses Mom for Disabled Child Written by Erma Bombeck Published in the Today Newspaper Sept. 4th, 1993 Most women become mothers by accident, some by choice, a few by social pressures, and a couple by habit. This year, nearly 100,000 women will become mothe...

Faces of Peroxisomal Biogenesis Disorders

This Saturday we are hosting the first annual Pancakes for PBD benefit.  All the proceeds will go to the Global Foundation for Peroxisomal Disorders to help offset the costs for our family and others like us to attend this summer's 2012 Family Support Conference in Orlando, FL.  We hope that this will become an annual tradition and allow us to help raise awareness and money for peroxisomal biogenesis disorders. Here are just a few of the faces of PBD. 

Here we go again!

Yesterday, our family got to take another trip to the ER. Just a little after 7am, after I had fed Ethan breakfast and gave him his morning medications, he and I came into the living room to play before we had to get ready to leave for school. Ethan had 5 seizures, each lasting 10 to 15 seconds, back to back. Jeff had not yet left for work so I had him get the Diazepam, Ethan's rescue medication, and we gave it to him. The Diazepam is supposed to stop the cluster seizures, but it didn't. The seizures continued and didn't show any signs of stopping so the three of us packed up and headed off to the ER. By the time we arrived at the ER the drowsiness that is a side effect of the Diazepam was very evident, and although Ethan wasn't sleeping, he was definitely out of it. He had another small seizure shortly after we got to the hospital while we were being checked in. Once again his vitals were monitored and blood taken. The doctor spoke on the phone with our neurologist...