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. \u201cAround midnight on the day of my son\u2019s 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,\u201d Eliza reflects.<\/p>\n
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. \u201cAfter 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.\u201d<\/p>\n
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\u2019s pulmonary vasculature and heart, leading to a lack of oxygen (hypoxemia).<\/p>\n
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\u2019s 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.<\/p>\n
An autopsy revealed that ACD was the cause of Johnny\u2019s death. \u201cIt\u2019s difficult agreeing to an autopsy for your baby,\u201d says Eliza. \u201cBut we needed to know what happened to determine if it was hereditary and in case our results could prevent this from happening to another family.\u201d John and Eliza grieved while simultaneously becoming active in ACD awareness. \u201cWe began by learning more about the disease, and about the research going on,\u201d says John. \u201cWe want to raise awareness to gather support for continuing research.\u201d To gather this support, the Ristas organized a successful fundraiser for the NORD ACD research fund this past February. Falling right before International Rare Disease Day, \u201c$20 for the 20th\u201d honored the day that Johnny was born, and brought in $12,000 for various ACD research grants. \u201cNo parent should ever feel this helpless, or endure this kind of heartbreak,\u201d says Eliza.<\/p>\n
Through their fundraising and awareness efforts, the Ristas became close with the small, yet tight-knit community of those affected by ACD. \u201cIt meant the world to us to find comfort from other families that had walked the same tragic path,\u201d says Eliza. \u201cFrom initially holding your perfectly healthy baby, to watching him be put on ECMO, to losing him\u2026it\u2019s impossible to describe the complexity of emotions.”\u00a0These other parents made up a supportive community within which the Ristas could grieve, but they also provided a wealth of information.<\/p>\n
The Ristas learned that DNA testing of the FOXF1 gene on a blood sample may have enabled quicker and more conclusive results. Instead, the Ristas had to rely on sending tissue samples from Johnny\u2019s autopsy to a research lab for genetic testing. \u201cWe were able to determine that Johnny\u2019s DNA had no mutations, but we will never be sure if there was a deletion as the results were partially inconclusive, mainly due to the quality of the DNA without a blood sample,\u201d says Eliza. Hospitals may want to evaluate their protocol of taking post-mortem blood samples from infant deaths for DNA banking, especially for infants to be subject to an autopsy, to ensure the quality of the DNA for prompt and comprehensive results, and to provide a wider sample base for research into rare diseases such as ACD.<\/p>\n
In almost all cases of ACD, the genetic abnormalities found in affected infants are not present in either of their parents and thus the risk of having another child with ACD is very low. \u00a0\u201cWe knew we wanted to try to have another baby, but naturally, we were terrified,\u201d says Eliza. The Ristas were introduced to an excellent genetic counselor through their local hospital, and were comforted by stories of success from the ACD community. \u201cOther families who had gone through this reassured me that I could go on to have a healthy baby,\u201d says Eliza. \u201cIt gave us the courage to try again.\u201d<\/p>\n
Two months ago, Eliza and John Rista were a few doors down from the room in which Johnny had been born, with the same caring medical staff by their side. \u201cWe weren\u2019t 100% sure that this baby wouldn\u2019t have a deletion in her DNA,\u201d says John. \u201cAnd if she did, there wouldn\u2019t be much they could do.\u201d Thankfully, Grace Rista was born healthy, full-term, and with oxygen levels at 100%. The Ristas call her their \u201crainbow baby\u201d, a term common in the loss community, to represent a beautiful gift given after their son was taken too soon. John and Eliza Rista will continue to honor Johnny through their advocacy and awareness efforts toward alveolar capillary dysplasia.<\/p>\n","protected":false},"excerpt":{"rendered":"
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. … <\/p>\n