While at a family vacation in August 2010 my sister noticed that Abby had noticeable vision problem. She had an eye exam the year before so I was surprised she needed glasses.
On August 19 2010 I made Abby an appoint for an eye exam at a local LensCrafters thinking it would be important for Abby to have the glasses before school started. We left the appointment with no glasses and the only recommendation that we should see the pediatric ophthalmologist we had seen last year. Abby couldn't see the chart at all. When she looked at me in the exam room she looked to the wall but kept saying she was looking right at me. The vision professional thought perhaps she wasn't comfortable and perhaps it was a behavior problem.
I called and made an appointment with the pediatric ophthalmologist for October 27 2010. Chris (Abby's father) called an go us an appointment with an ophthalmologist (not pediatric) for the next week because we just were not comfortable waiting that long. The appointment went pretty much like her previous one. She couldn't see much of anything on the chart. Her eyes were healthy. The office called the our pediatric ophthalmologist office and got the appointment moved up to September 22 2010. Abby would start school with no fix for her vision problem.
We were sure to let her teacher know we were aware of an unknown vision problem before school started. about two weeks after school started the teacher spoke to me about getting an update because she could really tell in the classroom. Abby needed to have her school papers right up to her face.
The night after Abby's ophthalmologist appointment in August my mother told me that two of her brothers had Leber's. That it was something that men got. My maternal grandmother also suffered from adult onset blindness. The pieces were slowly coming together. I found out that it was a mitochondrial disease and we couldn't discount it as the reason behind Abby's problems. It would just be very rare. It can affect men and women at any age.
The day came for Abby's pediatric ophthalmologist appointment. Abby was in a great mood and did everything they asked of her she still pretty much couldn't see any of the charts. I heard the doctor say something to her assistant when she was looking at Abby's eyes. She wanted Abby to have a MRI right away. She also recommended us seeing an neurologist.
Abby had her MRI September 23. Since she was a child they wanted her sedated to limit the movement. The funny thing was the more drugs they gave her the more she moved. After a while they got the right amount and were able to get their pictures. Later in the day we heard the MRI was clear.
Before our pediatric ophthalmologist appointment Chris had worked with our primary care physician to get Abby an appointment with a geneticist in Boston. To make sure we were at least dealing with the Leber's issue.
We went to Boston on October 8th 2010 for Abby's appoint with Boston University School of Medicine
Center for Human Genetics. It was a great appointment. It was surprising how comprehensive it was. They spent almost 45 minutes on my family history. Did an exam on Abby looking for markers of genetic problems. Went over all of Abby's recent mental appointment and for the first time we heard the pediatric ophthalmologist had said she saw optic atrophy. We did not know this. They explained how LHON worked and how its passed down.
I started to realize that perhaps her unknown problem had a name and it was LHON. We don't know yet we still await the results but with her serious vision problems and her family history it seems that the direction we are going.
We had a waste of time appointment with a neurologist on October 13 2010.
Tuesday Oct 19th we got the results that Abby does have the 11778 LHON mutation. At least we know whats wrong now.
November Abby started to learn Braille as recommend by her Teacher of the Visually Impaired. She has done a great job and in the middle of March of 2011 Abby can almost be counted as a reader.
In December 2010 and February 2011 Abby attending weekends at Perkins School for the Blinds in their wonderful outreach programs.
In January 2011 Abby started to use a white cane and get weekly Orientation and Mobility instruction