Our 2019 Make a Miracle conference, a benefit for our registered supporters, welcomed those with Aniridia Syndrome and their family members (parents, grandparents, etc.), and the top doctors and researchers in the field. The AFI worked diligently to find funding and sponsorships to offset the expensive costs of the conference
Our 2019 Make a Miracle conference, a benefit for our registered supporters, welcomed those with Aniridia Syndrome and their family members (parents, grandparents, etc.), and the top doctors and researchers in the field. The AFI worked diligently to find funding and sponsorships to offset the expensive costs of the conference to help minimize the registration fees for our supporters while giving them priceless benefits.
The Make a Miracle members’ conference and social was in Blue Ash, Ohio on July 31st-August 4th. There were several places to visit while in Blue Ash, including the Cincinnati Zoo, the Cincinnati aquarium, Splash Cincinnati water park, and more.
Highlights of the conference included:
- Educational presentations by medical and research experts on the latest treatments, research, and clinical trials, with time to ask questions.
- Special guests during the “Aniridia Boot Camp Basics” (This covered the basics and general information for attendees to understand the more advanced talks by the experts).
- “See the Experts” clinic (examinations by the experts in Aniridia Syndrome).· A genetic testing event held during the clinic.
- A welcome ice cream social
- Several social events, support, and roundtable topic forums with others who understand the challenges of living with Aniridia Syndrome and its associated conditions. Special group gatherings for grandparents, feeding issues, adopted children with Aniridia Syndrome from outside USA, parents, adults with Aniridia Syndrome, etc. (all based on conference registration data).
- An exciting professional child care program for the kids while parents attended sessions. Activities for all ages, supervised park time by the hotel and a field trip for school-age children, and a pajama party during the evening of the gala. It was a great way for children to meet others and develop lifelong friendships.
- A teen “social” lounge with video games, a field trip, outdoor games, and a special presentation. It was an awesome way for teens to find others who know what they are going through, and with the internet, they can keep in touch.
- The Make a Miracle Gala Dinner, Silent Auction, and Social, along with entertainment and awards.
The Aniridia Foundation International (AFI) has been busy helping those with Aniridia Syndrome. Some of our tasks completed or underway thanks to our dedicated volunteers and monthly donors are: The AFI awarded another two-year grant to the University of Delaware’s Duncan lab to continue their study on Aniridia Fibrosis Syndrome.
The Aniridia Foundation International (AFI) has been busy helping those with Aniridia Syndrome. Some of our tasks completed or underway thanks to our dedicated volunteers and monthly donors are:
- The AFI awarded another two-year grant to the University of Delaware’s Duncan lab to continue their study on Aniridia Fibrosis Syndrome. The previously funded grant by the AFI discovered some new information to prompt additional research. “Aniridia is a genetic disease where children are born without the iris of their eye, and a retinal defect that reduces their baseline ability to see. However, it is also unfortunately progressive, with patients developing cloudy corneas, glaucoma, retinal detachments, and cataract. While many of these conditions are treatable by surgery, due to genetics, these patients are also very prone to develop aggressive, difficult to treat, ocular scarring which can lead to total blindness or loss of their eye as they age.” The Duncan lab has been working with the AFI to understand the molecular mechanisms underlying this scarring with the goal of identifying new therapies able to maintain patient vision in the long term. Recent gene expression profiling of an animal model of Aniridia Syndrome has revealed a new potential mechanism of fibrotic disease in Aniridia Syndrome that could lead to new therapies. The AFI just funded a new two-year award to Melinda Duncan’s group to validate this molecular mechanism and to explore whether blocking these pathways could help Aniridia Syndrome patients retain their vision long term.
- The AFI has collaborated in co-funding research for many years with Fight for Sight (FFS), a vision research nonprofit, whose mission is to fund scientists early in their careers and to encourage their desire for ophthalmic research. We appreciate the FFS in helping us with expensive Aniridia Syndrome research. Due to this relationship with the FFS, the AFI has a special grant partnership for Aniridia Syndrome research.
- This year we are co-funding two research grants with Fight for Sight. The first co-funded research grant expands on the research for the devastating Aniridia Fibrosis Syndrome (AFS) and the research mentioned above. The second research grant will look at retina and lens issues related to the PAX6 gene, which is often responsible for Aniridia Syndrome. According to the Cvekl lab at the Albert Einstein College of Medicine, their findings of this project will dramatically advance the understanding of genetics and pathogenesis of Aniridia Syndrome to generate novel treatments for Aniridia Syndrome and associated conditions.
The AFI has also been:
- Planning and developing the new electronic version and the actual launch of the new AFI Aniridia Medical Registry in August 2020. Regardless if supporters previously have had a paper version of their Medical Registry file, we are going electronic, and everyone needs to set up their new file. The AFI has been working with a well-known company whose focus is to assist us in developing this registry to collect crucial patient data for researchers to help advance research of Aniridia Syndrome. Their attention to and expertise in HIPPA security for the registry was a mandatory necessity to the AFI when choosing this company to protect our community’s information.
- Working with a team of geneticists, endocrinologists, and PAX6 researchers as there is a genetic aspect to some endocrine issues. The AFI is beginning the collection of specific lab results and experiences of children and adults with Aniridia Syndrome who have OR have not yet been diagnosed with weight, sugar issues/diabetes. A comparison between these two groups can tell us a lot. Due to new information on endocrine issues in those with Aniridia Syndrome, we must first collect this data to set up research studies. Please participate in the AFI Aniridia Medical Registry and its Lab Log and send us the test results – without data to help us understand, we cannot advance our knowledge on this.
- The AFI had their application for a “special session devoted to Aniridia Syndrome” approved for the 2020 Association of Research in Vision and Ophthalmology (ARVO) international conference. Unfortunately, due to the COVID 19 pandemic, the ARVO conference was cancelled. We hope to be given the opportunity at the next ARVO meeting as this “special session” can widely spread awareness, create interest for Aniridia Syndrome research and seek out clinical and basic science researchers for collaborations with Aniridia Foundation International.
Thank you to all our donors, especially our monthly donors. Without your support, we could not help to advance research or help those with Aniridia Syndrome and their families. Also, thank you to those who use Amazon Smile to earn donations for the AFI. So far this year we have earned over $600 just from your everyday shopping on Amazon Smile. To use Amazon Smile just go Smile.Amazon.com or use Amazon Smile in the Amazon App and name Aniridia Foundation International as your charity of choice.
If you are not a monthly donor, please consider becoming one – every little bit helps when everyone participates. Go to weblink.donorperfect.com/AFI_MONTHLY
Distance Learning. Remote Learning. E-Learning. Quaranteaching. Whatever words you use to describe it, this school year was likely the most unusual one any of us have ever experienced. With the Coronavirus pandemic in full force, most schools in the United States closed their physical doors in March and pivoted to
Distance Learning. Remote Learning. E-Learning. Quaranteaching. Whatever words you use to describe it, this school year was likely the most unusual one any of us have ever experienced. With the Coronavirus pandemic in full force, most schools in the United States closed their physical doors in March and pivoted to some form of remote learning for the remainder of the year.
Remote Learning provides extra challenges for children with disabilities, and children with Aniridia Syndrome are no exception. Given the uncertainty surrounding the pandemic, how do we best ensure that our children get the best education possible if any form of remote learning continues in the fall?
Here are a few tips gathered from parents and educators for remote learning:
- On March 12, 2020, the US Department of Education clarified that if a school district provides educational opportunities to the general student population during a school closure, the school must continue to implement a blind/low vision student’s Individualized Education Plan (IEP). As such, the schools must provide accessible materials for your child. This may look different from school system to school system, and even from child to child, based on their individual needs.
- As soon as humanly possible, the school or TVI should provide any low vision devices used at school for your child to use at home. For instance, our TVI dropped off a Braillewriter to ensure that our daughter, Elli, could continue her Braille lessons during her remote learning. She also made sure that Elli had her iPad, magnifier, and monocular available at home. If we did not have a computer for online lessons, the school would have provided it as well. This again will look different based on school systems and a child’s needs, but the principle remains.
- You can use different software to make your computer more accessible for your child. Sometimes, the standard accessibility features that come on a computer are enough. Using those, you can increase the mouse size, experiment with contrast and fontsize, and learn how to magnify things on your screen. If your computer’s accessibility features aren’t enough, JAWS and ZoomText, two popular programs used for screen reading and magnification, could be considered. Those were provided for free until June 30, 2020, due to the pandemic, so it will be interesting to see if they extend that option if remote learning continues this fall.
- Many schools provide Chromebooks, which have a magnifier app, but some kids do not like or find helpful. If your child has a Chromebook, a separate screen like a computer monitor or a TV can help enlarge what is on the Chromebook. Also, you can magnify Google by going to settings. As stated, you can use some hardware to make computer use more accessible. A large monitor attached to a computer may be easier for a low vision child to use, as they can bring it closer than a laptop screen. Many televisions can also be used as a monitor to enlarge the font. Also, a large print keyboard can be very helpful for children that have not learned touch typing yet. There are also large print stickers you can purchase to put on a laptop or Chromebook keys. They come in different color options (i.e., white letter on black background, black letter on a yellow background, or black letters on white background). You can find them on Amazon. Don’t forget to use Amazon Smile and obtain donations for the AFI when you shop.
- Speaking of typing, helping your child learn touch typing is essential in our digital age. TalkingTyper is an inexpensive app developed by the American Printing House for the Blind, and you can use it on iOS devices. TypingClub.com is a free resource that has keyboarding lessons online. Both are suitable for relatively young children to learn how to type and would take just a few minutes a day.
- Accessible book options are essential for low vision children under any circumstances, but they are especially useful during this time where library services are limited. Here are some of the services available for free or low cost to children with a print disability:
- Bookshare allows a child to download over 800,000 ebooks for free. Your child can then customize their reading experience using audio, audio plus highlighted text, Braille, large fonts, and other formats. Audiobooks are computer read but are easy to understand nonetheless. Go to Bookshare.org for more information.
- LearningAlly provides access to audiobooks that are human read instead of computer read. Some of these books also have text that allows a child to follow along. Some schools have access to LearningAlly already, in which case your child would be able to access this for free. If not, there is a nominal fee associated. Go to LearningAlly.org for more information.
- BARD Mobile is a mobile app used to access Braille and talking books from your mobile devices. This service is free to registered users who are blind or visually impaired. Look up the National Library Service for the Blind and Print Disabled for more information.
Distance Learning can be difficult for everybody, especially those with low vision. However, with proper accommodations in place, your child can thrive, even during a difficult season like this!