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 >
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 >
Katie Thortenson of Chicago is a proud mother of two healthy sons: her eldest, Jake, is 6, and her youngest, Drew, is 2, but often mistaken to be younger. When people ask why he’s so small, Katie explains that he has Noonan Syndrome. “Most people have no idea what it is, so it’s important to raise awareness whenever I can.” 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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