The Journey of a Blind Diagnosis
/It’s been two years since we discovered Skylee was blind and received the diagnosis of Leber's Congenital Amaurosis (LCA). It’s amazing how quickly I have already forgotten many details or maybe I’ve tried to push the sad memories away. Or maybe it’s God’s way of clearing my head to make room to store all the beautiful memories as our babies grow. I’ve found it hard to force myself to write it all down as I go back through old notes and emails while trying to hold myself together long enough to share this story - the beginning of Skylee’s story and now Duke’s as well.
Skylee was born in January 2015 and as a new mom, I had several baby apps on my phone to follow with information on when to expect Skylee to hit baby developmental milestones. Skylee seemed to be on track with everything (sleeping issues aside) until around six weeks when eye contact should have been starting to take place. Eye contact wasn’t happening for Skylee, at least not as early as six weeks but many apps provide information based on the earliest time possible in which some babies could show signs of a new skill. There can be quite a large range of when a baby will hit a milestone because as we all know, each child is different and develops at their own pace. So the apps tell me not to worry if my child isn’t hitting a milestone just yet. It’s very likely that she will develop normally in the days or weeks to come. Being the non-worrier that I typically am, I tried not to stress over it. I stored the information and occasionally tested her vision with toys held in front of her or walking around the house and showing her pictures. All of which she had no response. While it was in the back of my mind, I tried not to dwell on it, after all she was perfectly healthy and developing everywhere else right on track. I think I even mentioned the eye contact and tracking delay to Matt but he didn’t seem too concerned either at the time. We wanted to believe it was just a slight delay in eye development and everything would be fine if we just gave it more time.
3/16/2015 It was time for Skylee's eight week checkup and the doctor seemed slightly concerned that she was not making eye contact or following objects at this time. During the checkup, Skylee’s eyes reacted well to the pin light to expand her pupil, although the eyes reacted a bit more slowly than normal. It was then that our pediatrician referred us to a pediatric Ophthalmologist. She didn’t seem anxious or overly concerned but calmly suggested it would be a good idea to have a specialist evaluate her just to get another opinion and make sure everything was ok. If something was needed, we could detect it early and take further steps at that time. We scheduled the ophthalmology appointment but it was a month before we could get in. During this waiting time, I did a lot of online research and the most complicated diagnosis I was finding was that autism can cause a delay in eye contact. Other than the delayed eye contact, Skylee didn’t meet any other signs of autism at this early age but it was all I could find other than it was just a delay and she’d develop more slowly and everything would be fine. So that was where I rested my hope. I went into the appointment with possible autism in mind but likely just a late bloomer in the eye development. Ok, I’m at least semi-prepared and feeling calm and I tell myself to just wait to hear what the doctor says before worrying too much more.
4/7/2015 Skylee was 12 weeks old when we made it to her first pediatric ophthalmology appointment with Dr. Leffler in Plano, TX. After performing his tests he indicated the eyes appeared mostly normal from the outside. He saw some jumping movement of the eye which is called nystagmus and he noted slow reaction to dilation which he thought could possibly be some far sightedness. Skylee was only three months old so he didn't think there was much need to be concerned until after four months old since the eyes are doing so much rapid development within that time frame. We didn’t feel satisfied with the answer to wait another four weeks to see if the symptoms simply go away. We wanted answers and after further consulting with Dr. Leffler he decided to refer us to a retina foundation since the retina is a part of the eye that an ophthalmologist is not able to see. He knew it could be months to actually get us in so he was comfortable going ahead with the referral to the Retina Foundation of the Southwest which just so happens to be here in Dallas. We were thankful to know we could move forward with more testing. We were concerned at this point and wanted answers!
Skylee's first Opthalmologist appointment with Dr. Leffler
Our heads were spinning with the information we were given. It was three months before we could get in to the Retina Foundation so in the meantime, I continued my online research focusing on the retina foundation and case studies they have published. I came across LCA and there was a check list of symptoms associated with the condition. Every single symptom could be checked off as yes, Skylee does ALL of these. Reading this was so chilling. Blind? Could my baby possibly be blind? I was concerned with autism, but blind? Wow, this had to soak in because it felt too real. I decided to mention my findings to Matt and at first he thought I was just being a little over dramatic reading too much online as I typically do but several conversations later and he started doing some research of his own and he agreed, LCA fits her symptoms.
That's when many long discussions began between us, talking about our future as parents raising a blind child and the future of our child growing up blind. We tried not to stress and worry over something we were diagnosing ourselves by a Google search but it was hard not to feel like we already knew the answer and the unknown path that was being laid out before us. We hoped to be wrong and I would try to convince myself I was. We would fall back to Dr. Leffler’s earlier comments, that it’s just a vision delay and there’s nothing to worry about. As soon as I’d be on a high of believing all was ok, I’d hold a toy in front of Skylee and she would look down and never at the toy. This up and down emotion continued for several weeks while we waited for our next appointment.
Sometime during the waiting period, Skylee and I were home one evening and I had put her in the stroller and we went out for our evening walk. We saw our neighbors across the street as we often did and stopped to say hello. Let me start by saying this wasn’t just any neighbor down the street. This neighbor lives directly across the street from me. Our driveways back into each other’s and with just a few steps from my yard, I can be in theirs. I often saw Mr. Tim out in his yard mowing the grass and meticulously maintaining his award winning lawn and shrubs and would always say hi and chat. His wife Ms. Sharon happened to be outside this evening and when I stopped to say hi, I suddenly found myself asking her advice as I knew she worked with children having special needs but that’s all I knew. I had no clue about what she really did or who she was helping or how. So I asked her to remind me what she did for work again and told her that we are having a little concern with Skylee’s vision. Ms. Sharon replies ‘that's exactly what I do. I work with babies with vision needs.’ ‘I'll come over tonight and we'll talk' she says. And she did exactly that. She came over and we played with Skylee in the floor for a couple hours that night and she explained a lot to me and I voiced my concern about going back-and-forth with what the doctor said about possibly just being a slight delay but also reffered for more tests on the retina. I asked her opinion on if we should really be concerned or is she just developing a little bit slower than most children. Ms. Sharon listened to me and played with Skylee and by the end of our visit her advice was to get in touch with early childhood intervention program in our area, ECI, and to request that we start vision therapy. Ms. Sharon suggested that it can't hurt to go ahead and start some therapy even if it’s just a delay, they could help make the needed progress. I had never even heard of ECI before so she explained to me that it’s a free service and any child with any need can be referred and evaluated to qualify for services. So with Ms. Sharon’s advice I got in touch with ECI and scheduled Skylee for an evaluation. I am so grateful that this neighbor was MY neighbor. She truly is the one that started us down this path. Without her knowledge I would have never been sure if we were taking the right steps and we certainly wouldn’t have started therapy as quickly as we did. Even after the doctor’s visits, it took hearing it from someone that works in the field and sees similar cases like Skylee’s to put us in a position to stop questioning and hanging on to false hope, to understand there was truly something going on and we needed help. We didn’t have medical answers but we knew we had to move forward with finding answers and not wait for possible development to catch up. I feel like God specifically placed our houses across the street from each other for this specific reason which was also the beginning of a lifelong friendship that I now consider them my family!
Tim and Sharon with our little minion, Skylee on her first Halloween 2015
6/29/2015 We had the ECI evaluation in Frisco and met with several ladies. They all played with Skylee and seemed to love her from the very start. They all agreed we should begin services with a VI therapist (Vision impairment) Ms. Jordan who would eventually help with learning to read Braille and an O&M (orientation and mobility), Ms. Becky, who would help Skylee with her mobility and possibly walking with a cane. The thought of my child reading Braille and walking with a cane blew my mind but as time went on I realized that really was what she would need. I can say now that Ms. Jordan and Ms. Becky are such a blessing to have them as part of the team helping Skylee grow.
Skylee and Matt at the ECI evaluation in Frisco, TX
7/13/2015 We finally made it to Skylee’s first Retina Foundation appointment where many totally non-invasive tests were conducted. Things like holding huge flash cards with high contrast in color to determine any type of response or eye contact. There was also a test were we sat in a dark room with a tv-like screen and somehow the machine tracked if Skylee was following any of the little cartoon characters. None of these tests seemed to produce any type of results in my personal, unprofessional opinion. Other than making Skylee very upset, I don’t think they managed to determine anything from the results besides making some broad assumptions and referred us back to our ophthalmologist to interpret some of their results.
7/16/2015 So back to Dr. Leffler I went. This time, daddy Matt was working so our angel neighbor Ms. Sharon joined me for the appointment. I was so thankful she could join me because she is great at giving sound advice and helping to ask the right questions and she too was determined that we needed more answers. Dr. Leffler was still unable to make any type of diagnosis off the latest test results and referred us to have an ERG test. An Electroretinography (ERG) is an eye test used to detect abnormal function of the retina (the light-detecting portion of the eye). Specifically, in this test, the light-sensitive cells of the eye, the rods and cones. He also referred us to another pediatric ophthalmologist at this point for a second opinion since he felt this condition was beyond anything he could diagnose.
7/27/2015 We saw the new pediatric ophthalmologist, Dr. Weakley, at the Children’s Medical Center in Plano, TX. Immediately we were greeted with an inviting staff and after meeting Dr. Weakley we felt like we were in good hands. Dr. Weakley repeated many of the same eye exams on Skylee as Dr. Leffler had done and concluded the exact same thing. We were a little surprised to hear the exact same thing since we had hoped for answers but we were also relieved to know that both Dr. Leffler and Weakley were doing all they could and it was simply out of their realm. Weakley repeated Leffler’s results that the pupils are slow to respond to light and she is definitely not tracking. He suggested a diagnoses of LCA which was the first time a doctor had finally referenced this condition. I am pretty sure he was surprised by Matt’s and my response when we said that’s exactly what we thought too but no one in the medical field had mentioned it yet. He also suggested the ERG test as the best next steps because Skylee did not appear to have any physical development issues and he did not feel an MRI was needed for neurological testing. Skylee was also heavily pressing on her eyes with her hands at this point and we asked what we could do to prevent her from doing it since we have read it can be damaging to the eyes. The doctor’s recommendation was to just keep directing her hands down which is quite challenging and he also recommended getting glasses for added protection from pressing.
Skylee with Daddy at Children's Medical Center of Plano with Dr. Weakley
Skylee gets fitted for glasses
8/20/2015 A few weeks later we took Skylee back to the Retina Foundation for the ERG test. It was scheduled for 7am and we were on pins and needles wondering if daddy Matt would land in Dallas early that morning in time to meet us at the appointment. God had a new plan though and Matt’s work schedule changed unexpectedly the night before the appointment and he was able to come home that evening. So instead of mommy stressing over getting both mommy and baby up and out the door and drive through downtown Dallas traffic by 7 am, I had Matt by my side the entire time! What a blessing and relief it was. I will always be thankful for that little miracle. That morning, Skylee was placed under light sedation and anyone who has had to put their baby under sedation knows how scary it can be. The ERG test confirmed LCA. LCA is a genetic disorder so Skylee had additional blood drawn as well as Matt and I to have all of our DNA tested to determine what type of LCA gene we carried. At this time there are 20 known gene mutations causing LCA. After our blood samples were taken we were directed to a private room for a consultation with the doctor where she confirmed and explained that LCA means blindness and detailed what our path would be like having a blind baby. Our hearts were broken and the tears didn’t stop. The car ride home followed with calls to our families to share the confirmed diagnoses. We were left with the hope that we would have our DNA test results back within nine months and someday our gene type would be a match for gene therapy – the gene therapy that is yet to be discovered! Scientist are making progress all the time so until then, we will raise our children without limits and pray they are God fearing, confident and independent children.
7 a.m. at the Retina Foundation of the Southwest in Dallas - Daddy and Skylee in the waiting room.
Dad, Mom and Skylee - selfie as we wait to go back to start the ERG test
Skylee's ERG test in progress
Skylee sleeping after a long, hard morning.
5/2016 – 9 months later We followed up with the Retina Foundation only to be told that funding is limited and there is a delay in running our DNA through the scanning process. It will be another six months before we would know more.
8/11/2016 Duke Matthew was born! We were thrilled to welcome our new baby to the family but also anxious to find out if he also had LCA. Knowing LCA is genetic condition, there was a 25% chance that Duke would also have LCA but that also meant that there was a 75% chance that he would NOT have LCA. We didn’t want to wait six weeks for tracking and eye contact to develop so we were able to get Duke’s DNA sample in for testing alongside the rest of ours. We were told they would push Duke up in line to have his results at the same time we got ours and Skylee’s.
Duke just a few weeks old, sleeping as usual
10/2016 We followed up again with the Retina Foundation and our results are back!! Exciting right?! After all this time waiting and waiting! Drum roll please………and the results are……...inconclusive; unknown; basically – nothing! UGH! With heavy hearts again, we are left without answers and more questions and we feel helpless because there really isn’t anything else to do. Scientist believe that 70% of the LCA genes have been discovered and 30% are still yet to be discovered. And we happen to fall into that 30% that is still unknown. So not only do Matt and I both happen to carry the same copy of this very rare, recessive gene, Matt and I each passed our copies along to both of our children, and we fall into the even more rare category that our gene type is yet to be discovered. So until the day scientist discover our gene type we will continue to have hope that someday there will be a breakthrough. There is always hope for our children no matter what scientist discover!
