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 >
Genome editing is a process that involves cutting out mutations in DNA and replacing them with new genetic material. This is an exciting idea because if it can be refined to a level that is safe and effective, the prospect of eradicating genetic diseases is no longer science fiction. read more >
Genetic biobanks, storage facilities for DNA, genetic data and tissue samples, are becoming more prevalent in the rare disease community. The information and samples can be made available to approved researchers for clinical studies, but unlike clinical trials, there is usually no personal benefit or follow-up provided to participants. read more >
Whole genome sequencing (WGS) is the genetic test that determines the order of all 3 billion letters in a person’s DNA, and is a technology that has become well known to the rare disease community. It can reveal not only the genes responsible for production of an abnormal protein associated with a disease, but also the presence of other abnormal genes or variations in gene structure and regulation. Success stories describing the use of this technology to help some individuals with rare diseases overcome the “odyssey of diagnosis” have been widely reported (links below) with understandably great enthusiasm, and this technology holds enormous promise for continuing to uncover the underlying causes of rare diseases. 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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