We haven't been active in the blogosphere lately, but we're back! We've been very busy with our growing baby girl. She continues to grow and thrive and is a vivacious and happy 3 month old!!
Here is the first email we sent about her eye condition. Most of you have already read it, but we want this site to have all of the info disseminated.
Some of you, however, may not know that for the past six weeks we have been busy going back and forth to doctor appointments regarding her vision. We first became concerned about Audrey when she wasn’t smiling by 8 weeks. I know that each child develops at his or her own pace, but this seemed outside of the norm. Additionally, the roving eye movements that are common in newborns hadn’t settled down and her eyes weren’t focusing or tracking objects. Our pediatrician suggested that she might have a vision problem, which could explain her not smiling among other things, and she promptly referred us to an eye doctor.
The ophthalmologist examined her eyes, which looked good structurally, but ordered an MRI to see if there were any abnormalities in her brain. The MRI came back normal, but at her follow up appointment, the doctor observed that she still didn’t have much of a response to light. She urged us to be optimistic and patient, but warned that Audrey might be visually impaired or even blind.
This morning we visited the neurologist who conducted a complete neurologic exam. Audrey appeared healthy in all areas, except that her eyes responded only slightly to the light he flashed into her eyes. This exam, her medical records, and our description of her behavior to date lead the doctor to suspect that Audrey has a rare genetic condition called Leber’s Congenital Amaurosis (LCA), which is a disease characterized by retinal degeneration and near-to-complete blindness.
It is a recessive genetic trait that is passed down often for generations without manifesting itself as it requires both parents to be carriers, and for both recessive genes for this trait to be inherited. Individual genetic mutations are also a possibility. Overall, about 1 of every 80,000 people have this condition.
The next step is for Audrey to have some genetic testing done to see if, in fact, she has this disease or if there’s something else. Brian and I will likely also be tested to see if we are carriers of the gene, as this could potentially have an effect on any other children we may have.
Brian and I are relieved to finally have some direction with which to move forward, and while the prognosis is uncertain, there is room for optimism. Literally as I write this, tests and trials are underway with gene therapy to correct the “spelling mistake” that could be present in Audrey’s DNA that has led to her eyes to not produce photoreceptor cells necessary for vision. Although it is early, we are encouraged by the prospect of new techniques, and will of course be following these developments to see if Audrey can benefit from them.
These past few months have been both the most joyful and the most difficult of our lives. We had no idea how great our capacity to love could be until she came along and showed us. Our hearts are so filled with love, which has made us the happiest parents on Earth, yet it has also made all of the uncertainty and waiting so difficult to bear.
Brian and I feel like we’ve become experts on visual impairments. We have been busily gathering information, talking to organizations, doctors, and parents, getting her early intervention services, and doing everything we can do as her parents and advocates. And most importantly, we are loving and caring for our beautiful baby girl.
We appreciate all of your love, support, and prayers.
Love,
Brian and Ashley
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