Calla was born small but apparently healthy in June of 2010, joining her big brother Rowan. We were over the moon in love with her! After a couple weeks I started to notice that my camera flash caused her eyes to look white in pictures. I dismissed it at first but when it continued to happen, I started researching and found out leukocoria is an abnormal white reflex from the retina, indicating a number of medical issues. So at 2 months old we brought Calla in and after several grueling hours and 3 different eye doctors examining our screaming infant, they sat us down and told us that our daughter was blind. We were devastated. It was later that we found out the reason for her blindness: bilateral macular dysplasia, meaning her maculas simply never developed, leaving her with no central vision. Basically where her macular material should be, there are simply colobomas (holes). She still has peripheral vision, although what vision she does have is also impaired.
After this discovery genetic tests were run and we found out our little girl has an extremely rare genetic disorder known as Ring Chromosome 9. Deletions on both sides of the 9th chromosome cause “sticky” ends that join together to form a ring. Only 120 or so cases have ever been documented, approximately 30 that are living today. It was amazing how this information, which we received just one week after discovering her blindness, changed our whole perspective. Suddenly being blind didn’t seem like a big deal compared to the daunting obstacles of a genetic condition.
From there everything is a bit of a blur. We did test after test and saw a massive amount of doctors and specialists. Over the course of a couple years we discovered partial agenesis of the Corpus Callosum (ACC), Nodular Grey Matter Heterotopia and several other anatomical brain variations, mild cerebral palsy with mixed tone, seizures, bilateral vesicoureteral (kidney) reflux, gastroesophageal reflux (GERD), intermittent delayed gastric emptying (DGE), a small patent ductus arteriosus (PDA)/heart murmur, mild microcephaly, global developmental delay and a tethered spinal cord that was just released recently. She is completely G-tube dependent and is small for her age. Calla sees 11 doctors regularly and even more on occasion.
As for her eyes, we soon found out her maculas weren’t the only issue. She has nystagmus, additional colobomas in her left eye and optic nerve hypoplasia (ONH, underdeveloped optic nerves) in both eyes. One eye was structurally smaller than usual and one was larger. Her larger eye also had no drain field, which lead to severe glaucoma. That has been our biggest eye struggle. She’s endured 8 surgeries and a number of medications to normalize the pressure in her left eye. We’ve had at least 20 eye exams under anesthesia; I lost count somewhere around 15! Calla’s first glaucoma shunt migrated and nearly perforated her eye; she currently has a 2nd shunt which had to be implanted deep within the eye by a retinal surgeon due to weak tissue. As a result of her multiple surgeries, Calla’s left pupil is permanently enlarged and she developed a cataract which was removed when her 2nd shunt was placed. It was because of her weak eye tissue that her cornea ruptured, leading to an emergency partial cornea transplant. She wore a clear eye shield for months on end and used arm splints at night for over a year to prevent her rubbing while her eye slowly healed.
We almost lost her eye more than once and our glaucoma surgeon has told us it’s nothing short of miraculous. Not only did we avoid losing her eye when we should have, somehow Calla is able to utilize her peripheral vision so well that most people can’t even tell she’s blind. In the words of her surgeon, “There is no way she should be able to do what she can do.”
At our most recent EUA Calla’s eyes looked great and her pressures were stable. After so much stress and struggle, it’s almost hard to believe that things are actually improving! We were previously told her left eye would be functionally useless but our surgeon seemed much more optimistic after the last exam. Calla’s maculas cannot be repaired, but we will eventually be getting a lens implant in her left eye because of her cataract surgery. Then we’ll start patching her right eye to strengthen her left. We’re also in the process of getting her glasses and hopefully we can find a way to keep them on!
Whenever I have to sum up all of Calla’s conditions, or when I elaborate on the difficulties we’ve had, it seems awfully overwhelming. But our strong girl has defied every expectation and at 3 years old she is thriving! I tell people on paper she’s a mess but in person she’s a miracle! She’s now standing next to furniture, crawling, using sign language and even some words. She loves books, balls, music and making messes! She’s energetic, spunky and very stubborn but also sweet and affectionate. Calla is the Princess of the house and she knows it! Even though we still have a long road ahead of us, we know she will continue to confound the doctors and amaze everyone!
***** UPDATE 11/16/2014 *******
Hello all! I thought I’d post a brief update since Calla is now nearly 4.5 years old!
We’ve had some more adventures with her eyes:
We tried a contact in her left eye (which did not work due to her delicate tissue), and patching her right (which did not work without corrective measures for her left eye), and we’re still trying to get her to wear her glasses without without any real success. We’ll be getting Tomato brand glasses soon to see if they will make a difference.
This past Fall, Calla was switched to Cosopt drops twice a day when her pressure started rising again, and thankfully it stabilized within a week. Other than that her pressures have remained acceptable and she now does all her checks in the doctor’s office!
Lastly, it looks like we won’t be getting the lens implant after all since the left eye’s acuity is quite poor and her tissue is so very weak. Basically her doctors don’t want to mess with it and make things worse for a minimal amount of visual improvement. Honestly, we’re okay with that. She does very well as it is, so I know she will be just fine without it.
Other than eyes, she just started walking thanks to her new AFOs, and has been talking up a storm! Most of it is still hard to understand, but she’s come a long way and she keeps progressing every day!