We had a long day in Iowa City yesterday. I was hopeful it would provide more answers than it did, but I feel it was another step in the right direction in regards to Kiran’s visual delays.
The genetic eye doctor confirmed, again, what we already know: Kiran is behind on his visual development. Though his small pupil size may play a part, it is not the whole story. Even when his eyes were dilated, he was not as visually adept as he should be. She does want us to keep doing the eye drops (DARN!!!) to give him as much help as we can.
I cannot remember the name of the test, but we got a test done that measured how quickly the signal gets from his eyes to his brain and how strong the signal is. This showed the speed is within the normal range, but the strength of the signal is quite low. This could be due to a number of things: Perhaps there is an abnormality in the optic nerve or perhaps the occipital lobe is smaller than normal. Unfortunately, we are unable (unwilling) to do any further testing because it would require him to go under anesthesia. We don’t want to put him under this close to his heart surgery – the information we would glean would not be worth the risk involved.
We also had an ultrasound done of the eye. This showed his eye structure is normal. This made the doctor feel more confident that we wouldn’t do anything different now even if we had more information. The decision to wait for further testing is a good one.
She also saw a cataract in his right eye, which is the eye that has the pupillary membranes (the strands that should have fallen away after birth but didn’t). She doesn’t feel it is one that would require surgery – I think I understood it as it is on the surface of the eye and should fall away (or be able to be scraped away – I’m really not sure – too much info thrown at me in one day)….This didn’t seem particularly worrisome or important to the doctor.
And – this is somewhat interesting and terrifying all wrapped up as one emotion – Kiran’s specific genetic deletion is not on a database. It is not found on a database of healthy, “normal” people, and it is not found on a database of people with defects or disorders. This means little is known about it. Due to this fact, she strongly urged my husband and me to leave a blood sample so they could test us for this deletion (We did so). If one or both of us has this genetic deletion, it is not what is causing all of Kiran’s defects (heart, feet, vision). If, however, neither of us has it, they will want to start taking a closer look at the genes surrounding the deletion to see if they can find out if it may be the cause.
It is fascinating to me. Kiran may be the only known person with this very specific deletion. I knew my boy was unique and special.
So – some answers but still no definitive ones. We will go back in January to be seen by the genetic eye team again.
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I would like to highly recommend the NIH. One of their areas of expertise is in rare diseases and rare genetic diseases. They also cover all testing, treatment and travel expenses if you are unable to do so. They also have places for families to stay. Dave went there and Nichole continues to do so. Let me know if you have questions about it.