Janna Carter, MFA, did her thesis study on autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) and created the website, with a corresponding Facebook page, to bring awareness to this fascinating yet tragic disease. The website reads like chapters in a novel, but the content is surprisingly real. On her website Janna presents the known facts about ADNIV, as well as the only two known case studies. There is also a video that simulates the loss of sight for a person with ADNIV, a process that can occur over years or even just months. ADNIV is a complex, progressive eye disease that mimics several common eye diseases, so it is extremely difficult for eye specialists to accurately diagnose ADNIV. ADNIV has several characteristics that are, by themselves, separate eye diseases, and it can disguise itself as one disease, or show symptoms of many diseases simultaneously over time. No two cases of ADNIV are identical, and onset varies in age from case to case. Doctors and researchers at the University of Iowa work tirelessly to find a cure for ADNIV. On the horizon, and equally as promising, is the possibility of gene suppression – a treatment that would suppress the mutated CAPN5 gene and prevent blindness altogether! Because ADNIV is a combination of all of the serious eye diseases that cause blindness, effective treatments or a cure for this disease brings promise for the same with other eye diseases that cause blindness. ADNIV is a hereditary disease caused by a dominant mutated (CAPN5) gene. Autosomal means that only one parent is required to pass ADNIV on to the next generation. Each child’s chance of getting the disease is a mere flip of a coin. ADNIV never skips a generation, though a parent with ADNIV can pass the gene down to some, all, or none of their children. This extremely rare disease is currently traced through only two ancestries in the entire world. There is no evidence of the disease prior to the early 1800s. Genealogy research suggests it originated here in the United States. The country of origin for the Erbaugh ancestry (Erbach) is Germany. The country of origin for this particular Shearer ancestry is still unknown, though many speculate that it is also Germany. There is a single known case of ADNIV in Canada, and ADNIV carriers have likely migrated to myriad countries throughout the world in the more than 200 years of its existance. Since every child born to a Shearer or Erbaugh who is diagnosed with ADNIV has a 50/50 chance of getting the disease, the descendants born to a female Shearer or Erbaugh bring the disease to the ancestry of that surname going forward. For example, if (1) you have the surname SHEARER anywhere in your ancestry, from your father or through marriage to a Shearer or Erbaugh, and (2) there is blindness that runs in your family, then ADNIV could possibly be a part of your ancestry. Contact ADNIV.firstname.lastname@example.org if you suspect ADNIV in your family. Researchers at the University of Iowa published a medical paper in October 2012, documenting 99 known cases of ADNIV. All research was done in a lab, testing and comparing blood from dozens of likely candidates who were all genetically predisposed to ADNIV. Since then, Janna’s synchronous research method that combines genealogy with medical findings enabled her to find a plethora of additional people with ADNIV – now 140 known cases in all. Janna recognized the importance of a TTS (text-to-speech) service for her website. For a website about an eye disease that causes blindness it is imperative to offer text-to-speech service for people with limited vision, as well as users who are blind. Even sighted people benefit from the service. She researched numerous software programs, but quickly realized that ReadSpeaker was the answer to all of her needs:
- Since an API service is cloud-based it requires no additional stored data on her computer or server.
- Every change to the website is instantly recognized and utilized the moment that updates are posted to the server. There is no down time with back-end production.
- ReadSpeaker’s speech synthesis is so sophisticated that it actually sounds human. On the list of must-haves was a TTS service that does not sound robotic or artificial, as that can be a definite turn-off for any user, including herself.
- No other service that Janna researched offers highlighting of both word and sentence. For a sighted person this is an enticing and absolutely luxurious addition to the experience.
- Correct pronunciation and enunciation for this website is imperative.
- An added benefit is ReadSpeaker’s ability to assist young readers or adults with English as a second language to read along while listening (at the user’s chosen speed!) and following the highlighted text, thereby increasing reading proficiency and comprehension.
Janna speaks highly of the response to her website and the use of ReadSpeaker:
ReadSpeaker has added a level of interest, exposure, and positive feedback that sets the bar high. Websites that use ReadSpeaker are in a class of their own. The feedback for my website has been amazing. My focus group – over 100 people who either have ADNIV or have a loved one afflicted with the disease – warned me that images on a page can be barriers that prevent fluidity of the experience. Individuals who have limited vision or who are blind love the ease of use. I was able to design my website in a way that wrapped the story around the images, thereby skipping them altogether. I actually did a full audio check – akin to a spell check – and the technical team at ReadSpeaker corrected the subltleties of pronunciation, as well as enunciation. Words like “vitreoretinopathy” can be difficult to pronounce, and ReadSpeaker does it flawlessly. ReadSpeaker reads ADNIV as an acronym, rather than the individual letters, which flows with the text, rather than audibly fighting against it. A single word in the English language, such as “present”, is enunciated according to its use; the technical team at ReadSpeaker corrected these instances, as well. Prior to my website about ADNIV awareness, the only existing information online was the clinical results of tests done on the eyeballs of ADNIV patients. I found it off-putting, if not horribly shocking, that even the patients diagnosed with ADNIV had nowhere to get a wealth of information about people with ADNIV, not eyeballs with ADNIV. My website is “The Story of ADNIV”. The website reads like chapters in a novel, but the content is surprisingly real. It’s a story about people – a story that should be read by a human voice, simulating the pleasant experience of an audio book. ReadSpeaker is the eloquent voice of this powerful story.
Edit 9 July 2015: Janna Carter and ADNIV have been featured in an article by The Des Moines Register. Read it here.