Two years ago I had the opportunity to spend time in Ireland volunteering at Barretstown – specially-designed camp that provides therapeutic recreation programmes for children with serious illnesses and their families. I was hooked! Barreststown, along with 30 other camps around the world, are members of the Serious Fun Children’s Network. This incredible network of camps provides seriously ill children and their families an escape from the day to day stress of living with a serious illness – all free of charge!
This spring I ventured to the UK to spend time in Scotland with Over the Wall. When I returned home from camp in May, I set my sights on making it to one US based camp before the end of 2014.
On February 20th, 2013, Eliza and John Rista of Huntersville, North Carolina were blessed with an uncomplicated pregnancy, and a healthy, full-term baby boy weighing 8 pounds and 6 ounces. “Around midnight on the day of my son’s birth, my husband and I were alone in our room taking turns holding our baby and marveling at how he could be so incredibly perfect, beautiful, and special,” Eliza reflects.
They were blissfully unaware that in a few hours, their baby would be fighting for his life in the neonatal intensive care unit. He was given oxygen, then a ventilator and nitric oxide, and finally extracorporeal membrane oxygenation (ECMO) before all options were exhausted. “After twelve of the most terrifying and beautiful days of our lives, Johnny was gently handed to us, wrapped in a blue blanket knitted by his grandmother, and we lovingly held him in our arms as he went to heaven peacefully.”
What could have compromised the life of a healthy baby boy so suddenly and unexpectedly? A microscopic lung disease, called alveolar capillary dysplasia (ACD). This rare genetic disorder is characterized by a malformation of the air-blood diffusion barrier in the newborn lung, and is often associated with a misalignment of pulmonary veins. This abnormal barrier causes developmental problems in the infant’s pulmonary vasculature and heart, leading to a lack of oxygen (hypoxemia).
This is most commonly a result of one of two general types of genetic abnormalities, the first being a mutation on the FOXF1 gene on chromosome 16, and the second being a deletion in the areas of chromosome 16 that regulate the expression of the FOXF1 gene. ACD is extremely difficult to diagnose, as it’s only confirmed through biopsy or autopsy, and perhaps in part because of that, there have been less than 400 recognized cases since 1948. Almost every case leads to an infant fatality. read more >
It’s truly amazing to hear everyone’s unique personal story on why medical research is important to them. Whether it’s a parent whose son or daughter is living with a rare disease, a grandparent who has an incurable degenerative disease or a wife or husband whose spouse is battling cancer, everyone’s life in one way or another has been touched by a serious disease without a cure.
This fact makes the following statistics even more baffling. Over the last ten years, the National Institutes of Health (NIH) has received stagnant funding, resulting in the NIH losing nearly 25% of its purchasing power to inflation. Budget cuts in 2013 resulted in 750 fewer patients admitted to the NIH Clinical Center, and 640 fewer competitive grants were awarded. These trends are forcing young researchers to rethink their career path in the U.S. After all, the NIH can only accept one-sixth of grant applications due to funding shortfalls, compared to one-third of applications before this downward trend started.
The importance of NIH research cannot be overstated. NIH research benefits the economy, as every dollar in NIH funding results in $2.21 in local economic growth. The NIH supports over 400,000 jobs across the U.S., generating nearly $60 billion in new economic activity. The U.S. has gained one year of life expectancy for every 6 years since 1990, due largely to NIH research. In economic terms, this increased life expectancy can be valued at $95 trillion from 1970 to 2000. Finally, NIH research on cancer, heart disease, stroke, and diabetes prevents approximately 1.35 million deaths annually. read more >
Patients who are prescribed orphan drugs often can only get them through specific “specialty” pharmacies. Why is that? What do these specialty pharmacies do that is so special for the patients who use them and for the pharmaceutical manufacturers that hire them? What has been the experience of patients and pharmaceutical manufacturers with specialty pharmacies? The panel I am moderating at the NORD Breakthrough Summit on October 21, 2014 at 4:15 pm will explore these and other related questions. read more >
Editor’s note: The following blog is being published to highlight Blood Cancer Awareness Month and MPN Awareness Day.
I was diagnosed with essential thrombocythemia (ET) at age 16 after collapsing in my high school cafeteria. At that time, lab results showed I had a platelet count of over 1 million and my world was forever changed. During the last 18 years, I have traveled along the highs and lows of platelet counts, treatments, and the emotions of this blood cancer. ET has created some of the worst fears I’ve had in my life, but has also given me more purpose than I could have hoped for at a young age. read more >
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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