My little princess is 16 months old and practically perfect in every way. It’s that tiny imperfect part that I want to talk about now.
Being told that your child is not “on track” with their development is something that will stop you dead in your tracks and you will do most anything to figure out why. At 4 months we had a concern brought to our attention by Emma’s daycare teachers about her sight and tracking. At this time we brought her to her pediatrician and we were told that her sight just might not be developing at the rate it should and we shouldn’t worry but if we wanted to we could receive a referral to a pediatric ophthalmologist. We chose to go that route, we wanted to leave no room for error or leave it for now in the event it was something that needed to be fixed asap. We were referred to our 1st ophthalmologist and it took nearly a month to get in with him and in that time we realized that her tracking and sight really weren’t moving along since we first took notice. When we saw the ophthalmologist, he was able to confirm that physically and anatomically everything that had to do with her eyes was normal, however the unable to be seen by human eye was what caused concern. And due to Emma being a baby and not being able to voice her problems and what she could and could not see we decided to dig deeper and do an MRI of the brain to see if it was something with the optic nerve or even the brain. So at nearly 5 months old Emma experienced her 1st round of anesthesia for her MRI, the results of this scan did little to help with our nerves as the only thing it showed is Bilateral Esotropia (cross-eyed). So all in all this test didn’t really help us and all the ophthalmologist said was to see him back in a few months to discuss further treatment for the cross-eye.
Unfortunately in the meantime we noticed more and more that Emma was not progressing as she should and was unable to do the typical milestones for each month. She hated tummy-time and never pushed up on her hands and knees, she never sat, she hated eating most anything besides certain purees that we made and her bottles. We knew that something else was going on besides just her lack of tracking and went to the pediatrician yet again. At this time he agreed with what we were having issues with and sent us to see a Neurologist to try to pinpoint what was going on. The neurologist agreed that she is developmentally delayed and suggested we do panels of genetic testing and start her on Physical Therapy, Occupational Therapy, Speech Therapy to stop her delay from becoming worse. We did not delay in getting on top of these things and found an outpatient clinic that had all the therapies she needed not to far from home. She started PT first and after her evaluation at 8 months old we were told she was developmentally at the level of a 3-4 month old. We did both PT & OT once a week so that we could start her working up to where she should be. After some time we noticed that she was slowly but surely starting to do more and more and was making improvements all the time. At this time we were going to the therapist’s office 3 times a week and making a mess of everyone’s schedules. We started to do more research about government and state assistance and found a few different programs that Emma qualified for.
Figuring out what was going on with her eyes was still the issue we were having. We went through two different ophthalmologists and finally ended up at a Retina Specialist. The retina specialist was able to perform more specific eye testing after Emma turned 1, so until then we were sitting ducks. Finally it was time for her to have this testing. We checked in at Phoenix Children’s Hospital and she had her second round of anesthesia for testing. They did five different tests to try to get us more answers including a test that tested the rods and cones reaction as well as a test that is essentially an EKG for the eyes. Once these were done we spoke with the specialist and he let us know we finally have a diagnosis for Emma. She was diagnosed with Bilateral Optic Nerve Atrophy and a possible CVI (Cortical Vision Impairment, but that won’t be officially diagnosed until she is older and can do more testing where she can indicate what is going on verbally.) With this information, we can now try to do different vision and sensory therapy and activities to help Emma use her other senses in lieu of vision. We are on wait lists for even more specialist for the future to help us see if there is a possibility of gene therapy or treatments.
In Arizona, there is a program through the state that Emma qualified for they have been amazing for us so far for the things we can do in the now. We have a case worker who coordinates everyone and through them have a Developmental Specialist, Physical Therapist, Occupational Therapist, and Speech Therapist. Along with this program we were also introduced to the Arizona Foundation for the Blind and Visually Impaired who work with the other services via a Vision Specialist as well. These programs have allowed us to leave the outpatient facility that was starting to charge due to insurance only covering a small portion of the bill and have treatment in our own home and all together so that we don’t have to miss work or have her at an office where we are unable to recreate many activities or exercises at home due to lack of equipment. Slowly we see improvements every day and as of this week, at 16 months old, we have a sitter!!! We see her specialists every few months and do any and all testing we can to ensure she receives the best care that is directly tailored to her growth. Every day is a struggle but all we have to do is look at her beautiful little face and we are reminded that she was born this way and we will do whatever she needs to ensure her happiness and success.
For the past couple of months, Emma has been in a slow food regression. She is having a very difficult time eating purées and yogurts, and is only taking in anywhere from 0 to only 4 ounces a day. Drinking both pediasure and water in bottles has decreased significantly as well to now drinking an average of 16 ounces combined a day when she should be drinking 36 ounces or more. We’ve noticed her weight is at a plateau but the most significant thing that is noticeable is how she isn’t growing. She is still fitting in 12-18 month pants and even her physical therapist can tell when holding her she is losing muscle tone and fat. She is doing feeding therapy (along with OT, PT, Vision, and Speech) weekly but even with that she is still in a regression.
Emma Has Two Moms 