Important Message

Ruth had an appointment today with a pediatric ophthalmologists and was given a rather grave diagnosis. The doctor said that she has ocular albinism which means that she lacks pigment in her retina. She will have blurry vision that cannot be corrected with glasses or contacts or surgery. Currently there is no cure. To the extent of her blurry vision will have to wait until she is old enough to tell us. Many who suffer from this genetic disorder are unable to pass a vision test to obtain a driver's license. The doctor said that often people who have this are more intelligent than the average person. He noted that her hair color and skin pigment is normal so he said that she does not have oculocutaneous albinism. However, Brian and I have done research most of the evening and have decided that we do indeed need the genetic testing that the doctor recommends and that we want a second opinion. Here is what we have learned:

Ocular albinism is an X linked genetic disorder (XLOA). We have learned that it affects 1 in 60,000 males and that females are most often carriers only. For Ruth to have this, both Brian and I would have to be carriers and Brian would in fact have to be albinistic or there is another genetic issue involved.

Oculocutaneous albinism (OCA) is typically what people think of when you think of someone as being albino. This is not X-Linked. However, in our research we saw that someone can be OCA and still have normal to near normal hair color and skin pigment. Ruth is faired haired and seems to have more my coloring (fair). Since Brian and I were both blond at birth, we have thought nothing of her beautiful hair being fair. The eyesight problems can be the same for both XLOA and OCA.

We go back next week to the same doctor again, will see a genetic counselor soon and are being referred to a group called BEGIN (I have yet to research this) for families of children with low vision. We will seek another medical opinion when this first phase of information gathering is complete.

My sweet husband reminded me that this is a rare disease and even rarer for a female. He has reminded me that God knew Ruth would have this and must have GREAT plans for her. I will say that she did amazingly well today during the exam. She fussed a little when they put the eye drops in her eyes to dilate them and a little while waiting because she missed a nap. But during the actual exam she was still and attentive and when the doctor was speaking to us so gravely, Ruth talked the entire time, looking at the doctor trying to get him to talk back to her. She has been the perfect baby tonight giving her mommy and daddy a much needed rest. It is almost as if she is trying to tell us that it is okay and that she knows God will be her eyes if needed.

Of course we ask that you remember little sweet Ruth in your prayers. Brian and I are so thankful for her (by the way, she has two teeth that have broken through the gums and hurt a little when she chews on our fingers). She is such a happy baby and seems to take everything with such grace and determination. Her acid reflux seems to be under control. We have learned that she enjoys sweet potatoes and will eat bananas even though she will make a face. Brian has said that we now have a new normal. We will become experts on these genetic issues and will learn how to teach our daughter using all of her senses and will learn how to teach her to survive being a low vision person if needed. We know she can see her toys, tracks well and smiles back at us.

You can find more information on the websites located in the left hand column beneath her photo.

Thank you for taking the time to read all of this and for thinking of Ruthie Ru.