Aniridia

As some of you have heard, Eliana's first 48 hours were very uneventful and healthy, for which we are very thankful. Unfortunately, as the staff pediatrician at the hospital was doing her final head-to-toe checkup, she discovered that Eliana has an eye condition called Aniridia. It is apparently a very rare chromosomal mutation that causes the iris in her eyes to be underdeveloped, so she only has a very thin circle of iris in each eye. As a result, it looks like her pupils are permanently dilated.

Apparently, in 2/3 of cases, this condition is hereditary and is found in one parent as well. The other 1/3 of cases is referred to as spontaneous aniridia, for which there is no known cause. Since neither Doug nor I have the condition, they believe that this may be the spontaneous case. However, at some point, it is likely that they will send us in for genetic testing to find out for sure.

All cases of aniridia cause visual problems to some degree, but it is impossible to know at this point what degree those will be. We know that she is particularly sensitive to light. We had originally chalked that up to just being a newborn and being used to darkness, but apparently it is more than that. The visual problems can run the entire gamut from just being extra light sensitive and needing to wear sunglasses even on cloudy days, to needing glasses to see properly, to being legally blind.

In the spontaneous cases of aniridia, a small percentage of cases end up with a whole host of other complications, one of which is malignant kidney tumors. As a result, once the pediatrician discovered this, they immediately ordered an ultrasound of Elli's kidneys to determine if tumors were present. (Apparently these tumors are highly treatable if found at an early stage). We received the results officially yesterday, and we are very thankful to say that her kidneys were clear of any problems. It is apparently possible for these tumors to appear anytime, particularly in the first 6 years of life, so they will likely recommend having an ultrasound done every 3 months for her first 6 years of life and then every year after that, just to monitor the situation.

We have an appointment to see a pediatric ophthalmologist on July 17 in Ann Arbor at U of M. At that time, they will be able to make the diagnosis official (although the pediatrician at the hospital said she can't imagine what else it would be), and at that time, they may be able to start assessing how much vision Elli will have. Once they ruled out the kidney problems for now, there is not much else that can or should be done until she is older. They said we don't even really need to protect her from light or anything like that, since she will simply self-protect by keeping her eyes closed if the light's too bright. (We have noticed, though, that we get to see her beautiful eyes more often if we keep the lights low inside.)

We had her first well-baby checkup at the family practice doc here in Portland yesterday, who is the doctor we had planned to use as Elli's primary care physician. We were afraid that, with this diagnosis, she would need to see a special pediatrician in addition to the ophthalmologist, since we doubted that a small-town physician would know about something this rare. However, the doctor said that he had actually treated cases of aniridia before while being trained at U of M, so he has a fair amount of knowledge about it and will be happy to coordinate with any other caregivers that she need to see. We are very thankful for this unexpected blessing, since this doctor's office is walking distance from our house. I guess this is one of those times where God answers the prayer before we even think to pray it.

We are thankful for things like good insurance and good medical care. We named her "Eliana" because we've seen so many ways that God has answered prayer in our lives in the past, and we know that he will continue to answer prayers now. Even if it isn't always the way that we think he should answer, we've learned in the past that his ways are always better than ours. We are praying that God will allow Elli to see all that he wants her to see and that her kidneys would stay tumor free, and we would covet your prayers for our precious daughter as well.