by Patrick Dunn, International Pemphigus and Pemphigoid Foundation
As many in the rare disease community know, one of the biggest challenges facing an organization focused on supporting patients is raising awareness. We build networks of support and information, but how do we reach people suffering through symptoms of a disease they don’t know exists? How do we ensure that medical professionals are knowledgeable about these diseases so that patients receive correct diagnoses?
For the International Pemphigus & Pemphigoid Foundation (IPPF), these questions are the basis of a new Awareness Campaign. The goal of this campaign is to reduce both the amount of time patients spend searching for a diagnosis and the number of healthcare providers patients see before receiving that diagnosis.
If you have supported NORD with a donation at any time during its 31+ year history, we thank you. The wonderful work that NORD has accomplished since 1983 on behalf of rare disease patients and their families wouldn’t have been possible without the support of many caring individuals.
NORD works very hard to be a careful steward of donated funds, keeping operating costs low so that 95 cents of every dollar goes directly to programs and services for patients.
We know that you receive many solicitations for contributions at this time of year, but we believe that NORD has earned a place at the top of your list through its history of dedicated leadership and service.
And we are excited to tell you about two unique opportunities to drive progress for patients in 2015: promoting state-based advocacy through NORD’s Rare Action Network™ (RAN) and advancing research with an innovative new platform NORD has developed for patient registries and natural history studies. read more >
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.
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 >
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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