Before members of Congress pack up and go home for the holidays in December, there’s one important thing they need to do: Complete the reauthorization of the Newborn Screening Saves Lives Act.
At the start of this Congressional year, reauthorization of this very successful legislation appeared to be a slam-dunk. The value of the Newborn Screening Saves Lives Act has been well documented.
Both the House and Senate passed reauthorization bills with little fanfare. But now the legislation has become stalled in the Senate, and it is not at all certain that the impasse will be resolved before the end of this Congressional season.
To leave this critically important matter in limbo would be a disservice to all Americans … and, in particular, to the rare disease community.
The Monaco family’s story illustrates why newborn screening is important. In 2001, son Stephen went to bed one evening a lively and precocious toddler. By morning, he was in medical crisis, his life forever compromised by a “silent” disease that no one knew he had.
Stephen’s sister, Caroline, leads a normal, active life today as a result of newborn screening that made possible proactive measures to protect her. In addition to the tragic loss of Stephen’s ability to fulfill his early promise, this story also has an economic component. Stephen will need a lifetime of sophisticated medical care, whereas a major part of Caroline’s treatment is simply a modified diet.
On behalf of all the Stephens and Carolines in this world, NORD is inviting everyone to join us in letting Congress know that newborn screening is important to us. We have sent a letter to Congress signed by more than 70 organizations and rare disease medical experts.
In addition, our policy team has drafted an email that you can easily personalize and send to your Congressional representatives today. Please consider joining us in this important effort.
Vanessa Devore’s father, Octavio Armenta was never diagnosed, and neither was her grandfather. Hailing from Guadalajara, Mexico, she represents a legacy of fighters against an unknown disease, as the pioneer in her family who received the first diagnosis.
Eleven years ago, Vanessa moved to Chicago, Illinois. While pregnant with twins, she began to experience some unusual symptoms. “I started to feel weird,” Vanessa recalls. Her severe fatigue, indigestion, and hot and cold flashes couldn’t merely be attributed to her pregnancy. “Sometimes, I had to keep three blankets on the bed to wrap myself in, in case I had to get up in the middle of the night.” Many doctors took note of her symptoms, and diagnosed her with either anxiety or depression, prescribing the appropriate medications. “I knew that’s not what was going on,” says Vanessa. “It was frustrating, having so many doctors dismissing my symptoms as something that simple.”
Vanessa’s search for answers came to an end when she visited the Division of Endocrinology at Northwestern. A genetic test confirmed that she suffers from multiple endocrine neoplasia type 1 (MEN-1). It’s a hereditary disorder, characterized by one of 1,300 possible mutations of the MEN-1 gene, which is involved in the production of the protein menin. Menin is responsible for controlling the speed and regularity of cell division, so the absence or malformation of menin can cause tumor growth, often benign, and in the endocrine glands. These tumors can cause hormone irregularities, which can lead to a wide range of symptoms, which can sometimes be regulated. However, MEN-1 has no cure, and is considered a rare disorder, affecting about only 1 in 30,000. read more >
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 >
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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