Navigating Scarlett’s Coloboma

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Navigating Scarlett’s Coloboma

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Hi, everyone!

My husband and I welcomed into the world the most beautiful baby girl, our little Scarlett, on April 13, 2022. To say we were in awe of her is an understatement. She is our first child and we were so thankful to have gone through pregnancy and a day of decision C Section so well. She was born with a bigger than usual head so there was no way I could have a natural birth. She wouldn’t have fit! The hospital pediatricians looked her over and saw no need for concern. It was just how her body was. 

Navigating the first month as new parents was a wild roller coaster with tons of adjustments. But we began to comfortably ease into it. Though, we did have a negative experience with our first pediatrician, our second and current pediatrician upon her first month wellness visit gave us another curveball. 

She examined Scarlett’s eyes more thoroughly than anyone had before and asked us if we were aware she seemed to have Colobomas in both her eyes. This was news to us and something we ne we heard of before. We recommended we see a pediatric ophthalmologist who we luckily got to see the day after this discovery. This visit is where our road hit its largest bump. 

Scarlett was diagnosed with Coloboma of the iris, retina and optic nerve in both eyes. This will lead to her having life long vision impairment. Seeing as she is still so young, we cannot tell as of yet how much vision she has. We saw a retina specialist that confirmed the diagnosis and further added that her one eye has the macula affected as well which means that eye will have even less vision than the other. Genetic testing is being done to make sure there is no underlying issues. Within the next month we should have results. 

To look further and make sure her pituitary gland was not negatively impacted by the optic nerve Coloboma, she had an MRI done on her head. Thankfully, that is fine as is her brain overall. But the radiologist flagged her corpus callosum (a mass of nerve fibers between the two hemispheres of the brain that allows communication between them) as being short. It is a major concern when it is not there but a mild concern when short. Scarlett is booked to see a neurologist soon to get a baseline exam. This defect can affect learning abilities as well as eye issues so soon we’ll see if there are more dots to connect. 

This added medical roadbump has hit our family hard. Extended medical bills on top of the OB and hospital bills has put a major strain on our finances. And Scarlett will be hopping around to doctors for some time.

We need the help to balance out and put towards these continued medical expenses. We want to ensure our sweet girl gets the proper help and assistance she will need to enhance her life. She was always meant to be special for us and she will always know that! Our family is more a village and appreciates every moment of support and advice we are given every moment of our days.

Organizer

Heather Nordyk Agner
Organizer
Bloomfield, NJ
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