A trip to Iowa

On Sunday after graduation, we drove to Atlanta to fly to Iowa for an appointment with a new doctor - a molecular ophthalmologist who specializes in rare genetic eye diseases, Dr. Stone. We were referred to him by Dr. Murray, Leah's ophthalmologist in Miami. When we went to the hospital (at the University of Iowa), we were surprised that we actually had appointments with 2 doctors. First, we saw Dr. Wilkinson, (who was in the exam room waiting for us!) a low vision specialist. He assessed Leah's functional vision and was able to determine that Leah has more than just light perception. She doesn't have much more, but she can see some objects if there is a high contrast. We already believed this to be true, but it was nice to have it confirmed by a doctor. He talked with us about the importance of maximizing her functional vision and told us that he works with the schools in Iowa to help students with low vision. He said that we could email him with any questions about how to best support Leah in school and that he would personally respond within 24 hours. We were so impressed with a doctor who seemed to really want to help Leah. After seeing Dr. Wilkinson, we saw Dr. Stone, who repeatedly told us that he really appreciated our coming to see him. After he and a fellow doctor both examined Leah's eyes (having already seen images sent to them from Bascom Palmer Eye Institute), he told us that he thinks Leah has a condition called Leber Congenital Amaurosis (LCA). This is a genetic disorder that affects the retinas and causes poor vision. People with LCA often have slow pupillary response and nystagmus (rapid unusual movements of the eyes). There are several other characteristics involved with LCA that Leah does not show, which is why she was never tested for it. There are many different genes that are known to cause LCA, which can be inherited or might be a new gene mutation. Dr. Stone's team drew blood from Leah, Stephen, and myself, to test and see if we have any of these known genetic mutations. A diagnosis of LCA would mean the possibility for treatment in the future, so we are encouraged. Right now they are doing gene therapy with some forms of LCA in animals and successfully restoring vision. They have even done some clinical trials with people in one form of it. There is no official diagnosis yet and it will take weeks to months to get the results in from the test, but it's nice to have a direction to be heading in. In the meantime, Dr. Stone's team have found us an ophthalmologist here in Norfolk are are looking for a pediatrician who specializes in genetics. He wants Leah to be seen by someone who will be looking at her in a different way and not just as a typically developing child. We go back to Iowa next summer for an annual exam and are looking forward to it. Dr. Stone and his team were so different than the other experiences we have had. Usually we go to an appointment and feel like we are just another anonymous face in the crowd. In Iowa, we felt like we were valued and that they really want to help Leah. In fact, when we left, Dr. Stone's nurse gave each one of us big hugs. It's a lot farther to travel, and not as convenient as going home to Miami, but it was definitely worth it!

As an aside, Leah did awesome traveling! She loved having her own seat, looking out the window, and feeling the engines roar. Oh, and she loved all the snacks I kept coming to keep her happy and quiet! We got several compliments from other passengers and flight attendants about how good she was. What a relief!!