Conference Info

The Aniridia Foundation Internationals' "Make A Miracle" 2007 conference and social was held in Memphis, Tennessee from July 25-30, 2007.

Most of the meetings were held at the Hamilton Eye Institute on Madison Avenue. On Saturday, we all got a chance to contribute DNA and eye photographs to the Aniridia/Glaucoma gene bank and the International Aniridia Registry

Some of the weekend meetings were held at the Southern College of Optometry, which is also on Madison Avenue, just down the street from HEI. The visual aids displays and low vision clinics were held here over the weekend.

Most of the casual social events were held at the DoubleTree Hotel in downtown Memphis.

Medical Conference: Precious Gifts
By: Barbara Ying

Frame shift, IEP, PAX6, Keratopathy, Fibrosis, NR2E1, and Heart sight were some words spoken. So many words were heard and so much was learned. The Aniridia Foundation International’s (AFI) 2007 Medical Conference, held at the Hamilton Eye Institute in Memphis, Tennessee July 25th–31st, delivered the precious gifts of knowledge, hope, community, and inspiration.

Knowledge. Over the four days of the conference, attendees absorbed knowledge of aniridia from top doctors and other experts. Dr. Jim Lauderdale explained how unique the genetic changes in aniridia can be and how even the change of one tiny piece of DNA can, in a variety of ways, cause the entire eye to be formed incorrectly. He related how various testing methods find different types of genetic mutations. Dr. Eniko Pivnick explained the many different possible health impacts of the mutations that cause aniridia. Dr. Robert Enzenauer discussed how aniridia affects newborns. Dr. Judith Wilimas focused on explaining Wilms’ tumor, including the WTX gene, new drug treatment, and the ability to more accurately place people into risk groups. Dr. Lama Al-Aswad shared her knowledge on another major condition, glaucoma in aniridia patients, while Dr. Peter Netland focused on the various treatment methods for this.

Dr. Edward Holland discussed the scarring of the cornea known as keratopathy, its relevance to aniridia and its treatment, and how corneal stem cell transplants treat keratopathy. Immune suppression medications can be a significant concern with stem cell transplants, and Dr. Gautham Mogilishetty thoroughly reviewed these medications and their effects. Kathleen Kelley, OD discussed a study of the Ophtec 311 (artificial iris implants), since it is said that these can help to reduce glare and improve appearance. Dr. Holland and Dr. John Freeman discussed Aniridic Fibrosis Syndrome.

Knowledge of the medical condition is not enough for someone with aniridia. Life skills and resources are crucial as well to living a full life. Deborah Driesel, MSED shared her important knowledge on developing Individual Education Plans with schools based on her personal experience. Be sure to look for her article on this subject in the newsletter. Jim Alford from the Social Security Administration generously shared extensive information on Social Security, SSI, and Medicare. Dr. Shilpa Register, an assistant professor at the Southern College of Optometry and Chief of Low Vision at the Eye Center in Memphis, Tennessee, presented extremely useful information on transportation, bioptic driving, and other mobility techniques.

Hope. People with aniridia and their families found hope in improved treatment options, and an even greater hope for the future offered by researchers. Artificial corneas have improved in success rates, and Dr. John Freeman presented the artificial cornea as a viable option for people with aniridia, especially for those who cannot tolerate immune suppression. Dr. Elizabeth Simpson is researching the possibility of another genetic cause of aniridia for those who do not have a PAX6 mutation. Dr. Jim Lauderdale also shared information on his research in which he has been able to correct the genetic defect in a rabbit’s own cornea stem cells. While there is still much work to be done, the prospect of being able to get cornea stem cells working correctly to keep the cornea of a person with aniridia clear without the use of immune suppression is truly exciting. The Aniridia Gene Bank, which will provide the material needed to further research aniridia was kicked-off with the donation of approximately 180 samples from people with aniridia and their family members.

Community. The conference provided many opportunities to build community among people with aniridia and their loved ones. Social hours, both general and for specific groups, time spent over lunches and dinners, going to the baseball game, waiting for and riding the trolley together, and the clinic waiting rooms all provided real bonding and sharing times. Dr. Clairressa Goad led a session on the social experiences of a legally blind woman that rang true with many attendees. The Saturday night Make A Miracle Charity Dinner was enjoyed immensely as a time to celebrate together. Children and adults alike reveled in great Memphis-style food, plenty of music and dancing, and general socializing. Gathering a group of seventy people with aniridia together on the stage was an awesome and inspiring moment for people who may never even have had the chance to meet another person with aniridia before. This moment demonstrates the power of having a group that cares, fights to make a miracle for our cause, and can touch the lives of so many people who may otherwise be isolated with a rare condition no one understands. The excitement of being among people who understand, accept, and support each other was tremendous.

Inspiration. Jill Nerby’s constant presence, enthusiasm, and work during the conference provided the spirit for the huge success of this conference. Jill presented awards at the Make A Miracle Charity Dinner to acknowledge the people who have supported Aniridia Foundation International (AFI) through their time or money. Especially inspiring is the dedication, caring, and sacrifices of the doctors who are so supportive of AFI. Their generosity is incredible, and the difference that they are making in the lives of the people who gathered together for this conference and all others with aniridia is beyond words or thanks. They are the ones who can make the miracle and they are truly inspiring to us all.

The final day of the conference sessions before the clinics began was a half-day of sharing by people with aniridia. Meghan Phipps, Lauren Ross, Brittany Swedelius, Michael Nerby-Sarafolean, and Michael Talley brought smiles to the audience with their stories of success in their lives. Their positive spirits did indeed bring hope and inspiration to all those who heard them speak. Individuals traveled from around the world to attend the medical conference. Jean Geerthsen from South Africa, Cristina Mabalot from the Philippines, Daniela Oteyza from Spain, Lana King-Kottmann from Canada, and Daniela Buligan-Nita from Romania, shared their experiences of dealing with aniridia in their countries. The global nature of our campaign to make a miracle shines through in their stories. Cristina brought both tears and joy to everyone with the inspiring story of her “heart sight.”

The medical conference was a rare chance to learn intensively about this unique condition called aniridia. Yet the bonds, compassion, and community that we create when we gather together are just as important. When we are not just names on email, but people whom we have talked with, touched, seen, and shared time with, it makes us stronger as a community. The precious gifts we receive are the knowledge, hope, and inspiration of our community.