Calla – Bilateral macular dysplasia, colobomas, glaucoma, cataract, partial cornea transplant, ONH, Farsighted,

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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.

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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.

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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.”

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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!

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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!

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***** 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!

5 Comments

  • Lauren Shadrick says:

    Hello there!
    I cannot even express in writing how glad I am to have come across this web page and your sweet Calla’s story. She is such a trooper and a real cutie!

    Our son, Clark (4 years old), has congenital glaucoma. We did not find out until he was 6 months old, thank goodness, because once we ended up in Children’s of Alabama, our (amazing!) glaucoma specialist surgeon basically told us it was a good thing we came when we did, or Clark would have soon been blind. We have had all of the EUAs, trabeculotomies, goniotomies, and an shunt placement in his left eye. We are on dorzolamide eye drops twice a day, every day, for the pressure. Clark has FINALLY started wearing his glasses, but the eye patching is difficult. He is extremely photophobic, still, but seems to be having more good days than bad. I am looking forward to the day (as I’m sure you are) when we can do pressure checks in an office visit and not under anesthesia!

    I thought Clark’s glaucoma was traumatic enough…I cannot imagine what sweet Calla (and you) have been through. You are a tough mama! I’d sincerely love to be in touch with you via email, Facebook, or this page. I do not know anyone, personally, who has been through the EAUs, surgeries, shunts, eye drops, etc.

    Thank you for putting Calla’s story out there. Although it is not under the best of circumstances, her story of beating the odds has really made my day. She is truly amazing and an inspiration, as are you. Thank you.

    I would love to know more about Calla and how she is doing. At some point, hopefully sooner than later, I’d like to organize an congenital awareness walk/event/Facebook page to spread the word, as it is so rare.

    Please feel free to contact me whenever, if you like! I look forward to hearing from you!

    Lauren Shadrick, RN
    laurenshadrick@gmail.com

  • NANCY KRUMAKER says:

    Your Story reminds me of Our Story, of my now 9 yr old Granddaughter who was born VI with ONH, Nystagmus and Cataracts, She was Two months old when we saw the ” White ” Eyes in the photos, but we were not aware of the meaning. Even though she was in NICU for a few weeks after birth and many trips to her Doctors, No one told us that She Had A problem with her Eyes. when She was around 8 months old the Nystagmus kicked in and her Eyes would roll uncontrollable We went to Children’s Hospital in Philadelphia and they told us She was Blind from ONH. We were Devastated as you can imagine. As a Grandmother of 7, I Still cannot believe I didn’t know something was That wrong, with her Eyes. We do have a Happy Story though. My Darling Granddaughter has developed just enough of a Strand of Optic Nerve in the corner of her Left Eye and if She holds something next to her Left Eye She can ” SEE ” it. She is a Braille Writer and Reader and makes all 100′ s in her local Elementary School. She is a Happy Beautiful 4th Grader. It is Truly Amazing the Courage and Talent our Kids Have. Never Give Up, I would like to see more awareness of the ” White Eye ” in photos, so Parents can get help sooner. Thank you for listening and Good Luck

  • Linnea says:

    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!

  • Lily S. says:

    It’s interesting how we stumble across post while researching for something different. How’s your little Angel doing? I was born with Coloboma in my right eye as well… but back in 1959 they weren’t as up on things as they are now because it wasn’t discovered until I was 19. Now at 56 I’m about 70% vision loss in my coloboma eye. I posted my link to a post I wrote a few years back with photos… keep us posted!

    • Wow! It’s amazing to stumble upon people who have similar conditions despite how rare they are! You’re the first I’ve met to have a coloboma as well! Hurray for the internet!

      Calla’s doing fairly well. Her left eye is considered functionally useless at this point but she still manages to operate very well. You can only tell she doesn’t use that eye when she’s playing peekaboo or examining something (she will cover only her good eye, or hold objects up very close to her good eye alone).

      We’ve finally started to get her to wear her glasses for a few minutes at a time, although they are more for protection than correction at this point.

      We’ve found out a few more things medically, such as a connective tissue disorder, which explains why her eyes are so very delicate (and why she has difficulties with healing in general).
      She’s quite the little spit fire and she keeps us hopping! She’ll be 6 in June!

      I’m including her Caringbridge Page for anyone interested in reading up on her journey (be forewarned, I started the site when she was 3 months old and I’ve written a LOT over the years!) or continuing to follow her story. :)

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