Jill Nerby is in her early forties, a single mother, attended college, holds a few degrees, and runs a non-profit organization in Tennessee that she founded in January of 2001.  She is a prime example of the modern woman; able to do anything she sets her mind to.  Able to do anything, that is,  except see.

Aniridia Defined

Jill was born with aniridia, a rare eye condition causing low vision that can lead to blindness without treatment.  Usually aniridia is genetic, but in Jill's case it was sporadic, which means she does not have a family history of the disease, and it occurred as a genetic anomaly.  Aniridia occurs in approximately 1 in every 50,000 births.  People with this disease are born without an iris, or with a partial iris, and have an underdeveloped corneal root.  This causes their eyes to be misshapen or deformed which makes looking through them comparable to looking through a sheet of wax paper.  In addition, aniridics are much more susceptible to other eye diseases, like glaucoma and cataracts, that can decrease their already poor vision.

With very few exceptions, aniridia is caused by a mutation of the PAX6 gene, which is responsible for the development of the eye, but also plays a part in the development of the brain and other parts of the body.  Because of this, aniridics are sometimes also born with mental retardation, genital/urinary tract abnormalities, and/or Wilms Tumor, a cancerous tumor of the kidney.  Each aniridia sufferer can have a different experience.  Luckily, Jill suffered no consequences from associated diseases, but from the very beginning, the struggles she would endure because of vision impairment were apparent. 

Growing up Against the Odds

When Jill was born in the 1960's, doctors told her parents that she would be completely blind by the age of 13, and that she should attend a special needs school.  Her parents said no.  They treated her no differently and placed her in mainstream schools, from which she graduated and went on to a college career heavy with pre-med studies.  She couldn't quite make it to med school like she intended; her eyes got too bad.

Looking for a Miracle

For years Jill had been searching medical journals and other research outlets, looking for unexplored possibilities that could help restore vision in aniridic patients.  In 1999 she was in her late thirties and had never undergone surgery because she thought it was too risky.  She had been taking medication to control various eye problems, but invasive surgery performed on aniridics can cause complications like glaucoma spikes, increase the chance of developing a cataract, and worsen corneal pannus, the scarring or clouding of corneal tissue.  Besides that, aniridic eyes just wouldn't accept a corneal transplant for some reason.

Eventually, Jill found Dr. Ed Holland who was performing eye surgery at the University of Minnesota at the time.  Dr. Holland had experience with aniridic patients and found that the Limbal stem cells in aniridics were not developed enough to accept a new cornea.  Using this information, Dr. Holland began performing Limbal stem cell implants on aniridic patients and the results were great.  With the new stem cells in place, the eye would now accept a corneal transplant, allowing aniridia sufferers the possibility to return to their best visual acuity.  Because of the disease, aniridics will never be able to achieve 20/20 vision, but some are able to see as well as 20/50 with the help of contact lenses, although many are born with 20/200 or worse. 

Desperately Seeking Surgery

Enlightened by her recent discovery, Jill decided it was her turn.  In July of 2000 she visited Dr. Holland and had a stem cell transplant performed on her right eye and was subsequently able to have a corneal transplant.  It was risky.  Her glaucoma worsened and she began to develop excessive amounts of corneal pannus.  This was eventually brought under control with medication and additional surgeries, and she noticed significant improvement.

When, in February of 2002, it came time to perform the transplant on Jill's left eye, Dr. Holland changed his approach slightly.  Before the transplant Dr. Holland did more prep work including implanting tubes to relieve the pressure caused by glaucoma, hoping he could lessen the number of surgeries he would have to perform, since each one brings severe trauma and increased complications.  This time Dr. Holland transplanted the stem cells and the recovery went much better.  The results were so good, in fact, that when Jill was scheduled to return for her corneal transplant Dr. Holland found that she didn't need it.  The new stem cells were regenerating the damaged eye.

Seeing the Results

Of course it has not been perfect since surgery.  Jill still experiences glaucoma spikes from time to time, still has ptosis, or drooping of the upper eyelid, and, like all aniridics, her eyes are very sensitive to light.  When her glaucoma is really bad, she has had to rely on her mother to help her with daily tasks like cutting her meat so she can eat it; a very humbling experience. But Jill now has 20/80 vision when she is wearing contacts and says that there is no way that she would be able to be independent without Dr. Holland's surgery, and for Jill, not being independent is not an option.  She has too much to do.  Besides caring for her fifteen-year-old aniridic son, Jill has an organization to run.

Organizing for a Cure

She founded the U.S.A. Aniridia Network (USAAN) in 2001 to help find a cure for her disease, and to educate the public, teachers, employers, and eye care professionals.  When Jill was doing her own research, trying to find help and more information, she became frustrated.  There just wasn't enough information readily available.  There were a few international organizations dedicated to aniridia, but no American organization devoted to helping U.S. citizens cope with the disease and promoting education nationally.  Sure, there were organizations and informative web sites about eye diseases that included aniridia, but, as she puts it, "if we want to make progress, we have to focus in on aniridia."  She realized that the country needed something like this to help patients that sometimes didn't understand their own disease, but she had initial apprehension moving forward, even though she knew she could potentially help thousands of people. 

In 2000, Jill's grandmother was dying of cancer and told her granddaughter to follow what was in her heart.  That was the catalyst.  Jill took money out of her stocks, which she jokes "weren't doing any good anyway," and had the organization officially established in January of 2001.  Her only regret: her grandmother died 3 months prior and never got to see Jill's dream come to fruition. 

So Far So Good

Since its inception, the USAAN has helped many of its members find medical help, has educated teachers and employers about students and workers with the disease, and has helped parents better care for their young, aniridic children.  USAAN has formed an association with the Cincinnati Eye Institute, has other such associations in the works, and boasts a membership that is rapidly expanding.  For now the focus is on education, Jill says, although she would like to be able to contribute to research efforts as funding permits, but for now membership is increasing faster than available funds.

Though her work through USAAN is rewarding, and the organization is benefiting thousands of people, Jill admits that it can be emotionally draining at times.  From hearing stories about two-year-old babies that are getting fitted for glass eyes because their glaucoma went undetected, to a man that has dropped from the organization and divorced his wife over a dispute about whether or not they should seek surgery for their two aniridic children, to patients who deny their disease and won't accept any help at all, Jill has heard more than her share of tragedies.  "Aniridics want to be like anybody else, and don't want to be treated any differently," she says.  That is why informing the public about the disease is so important.

Take our hands...Walk with us...Share our dreams...and Make a miracle!

The surgical abilities are continuing to advance, but even in the best cases, patients cannot achieve any better vision than what they were born with.  Jill's hope is that by the time her son is ready to have children, research will be advanced enough so that at least the genetic form of aniridia can be prevented.

The slogan Jill picked for the USAAN is "Take our hands...Walk with us...Share our dreams...and Make a miracle!"  And as a fully independent woman who was supposed to be blind by the age 13, Jill knows a thing or two about miracles. 

To learn more about aniridia or to donate to the USAAN, visit their website at http://www.aniridia.net.