Alena Galan is a happy 16-year old girl full of life and wise beyond her years. She can light up a room with her quick-witted charm and energetic personality. She loves to sing, dance, play guitar and violin, and like most teenagers, enjoys spending time with friends. Alena has a deep-rooted appreciation of life and cherishes every moment – all with good reason.
On January 24, 2002 Dr. Robert Marion, director of Children’s Evaluation & Research Center, Albert Einstein College of Medicine diagnosed Alena with mucopolysaccharidoses VI (MPS VI) or Maroteaux-Lamy syndrome, a rare inherited lysosomal storage disorder. Individuals with MPS VI do not produce the enzyme that carries all the impurities out of their body. This causes thickening of the bones, breathing difficulties, and ceases normal human growth and development. Symptoms gradually worsen over time, and individuals with MPS VI usually do not survive past 25-years old.
The news devastated Marcia Galan, who adopted three-year old Alena from a Russian orphanage just seven weeks earlier. At the time, Alena – who remarkably resembled Marcia – seemed to be healthy and happy. They immediately bonded as mother and daughter. Shortly after bringing Alena home to the U.S., a pediatrician who specializes in Russian adoptees observed several abnormalities, including a heart murmur, which led to further evaluations and the MPS VI diagnosis. read more >
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.
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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