Tuesday, August 2, 2016

Leber congenital amaurosis (LCA)

Written July 22th, 2016

Here goes. I sit here like I did over a year ago, writing about Winsley's seizures/tumor. That all seems so simple compared to the weight we carry now. I remember Winsley's diagnosis feeling devastating and complex too, though. I need to go back a few months to catch most people up with Capri. 

 On December 13th, 2015 Dayton and I sat at our ward Christmas Party in Mesa.  Capri was just shy of two months old at the time.  I was watching her as she sat in her carseat while Christmas hymns played in the background. I suddenly noticed her eyes jumping back and forth rapidly, occasionally rolling forward. It was weird and I immediately panicked.  I nudged Dayton and asked what he thought.  We're pretty familiar with seizures, and that was my initial thought.  Dayton trusted my instincts and agreed it was odd so I quickly left the gym and left a message for her pediatrician.  The on call nurse told us to take her in, but we decided to watch her that night.  We eventually chose to take her into the hospital around 11am the next day. I half knew nothing could be done, but I was in a panic with the uncertainty. They admitted her that Sunday morning and we stayed two days. They ran an EEG (to check for seizures) test that came back clean so the neurologist recommended we see an Opthamologist as soon as possible.

 We set up an appointment for the following Tuesday.  Nystagmus was brought up at the hospital (since she didn't track objects & her eyes shook a bit) so her Opthamologist examined her and encouraged us to enjoy our Christmas, not to worry, but to bring her back in two months.   He assured us he had seen this before and all her eye structures checked out fine.  I was grateful to have those instructions even though two months later we brought her back with little improvement.  It helped us enjoy Christmas like he told us to. Over the next couple months I was prayerfully trying to decided what we should do. Something was off, but none of her doctors seemed particularly alarmed!  I had been reading and researching in vain. I have wished so badly I could Google Capri's specific symptoms and get an immediate diagnosis.  Every story I read online was a little bit different than our situation so I wrote off every possible diagnosis. The problem with diagnosing her was that every exam done by an eye specialist looks completely normal. So her eyes look okay other than being googly and lack of eye control. Most times I wasn't that worried. We were living our lives, loving getting to know our new baby, and keeping to our normal activities.  It didn't consume my life or thoughts, but it was in the back of my mind in between appointments.  I kept telling our families she'd be fine. Which is not my personality at all. I'm the worrier. I decided either there really was nothing seriously wrong or I was being given some inner peace to deal with what was coming. 

In March, around six months old, after seeing her Opthamologist in Mesa, her doctor recommended we see a retinal specialist in Phoenix.  While meeting twice with Capri's Opthamologist I kept having the feeling that we should get a second opinion. It was a feeling I had never felt with Winsley. I always felt confident in the advice and care given by her doctors.  Maybe it was just that we needed more screening to be done that he couldn't do, I'm not sure.  I thought meeting with the retinal specialist would resolve that impression, but as we wrapped up the visit he kind of gave me the run around. Again, her initial exam always checks out fine. We discussed the retinal dystrophy Leber Congenital Aumorosis (LCA), but he summed up the visit by saying, come back in six months and have her Opthamologist see if her slight farsightedness gets worse. That didn't sit well with me. I refused to wait until she was one to hope this would fix itself. I told him, as gently as I could, "I don't feel like I have any more answers than I did when I walked in. I'm going to leave, call my husband, and not have any new information to give him." I asked him to please give me his best guess as to what it was. He concluded he thought it would be Leber's and to get working on getting her a sedated ERG (Electroretinogram) out of state since no one in Arizona does them. The ERG would test the light activity absorbed by the rods and cones in her eye.  The only way to confirm LCA is through genetic testing but an ERG would give us a better idea of how much light her eye is absorbing.  The way I describe an ERG to family and friends is by comparing it to a heart rate. When you're alive you have a heart beat. A heart rate monitor will have spikes and dips indicating your heart is working. When you're dead, you flat line. An ERG measures how much light is being absorbed in your retina's. If your eye does not detect the flashing lights during the test it will not have any hills or dips, it will be flat. (most kids with Lebers have flat ERG's.) A flat ERG indicates various stages of blindness.

 I left that appointment feeling sad, but ready to get moving.  I got in my car and called Dayton.  Obviously, neither of us wanted to accept that she could be blind.  His response, in true Dayton fashion; how do we fix it.  I tried to lay it on the table as a possibility not a definite diagnosis.  I spent the rest of the evening adding myself to Leber's Facebook groups, asking questions, and introducing Capri and her symptoms.   I recieved an overwhelming, but devastating response. "Sounds just like my daughter..." "That was exactly our story..." "My son had the same experience..." I read a few comments and felt mentally and emotionally spent, so we put the girls to bed. Overwhelmed with the day I walked back into our room alone, our girls scattered around our room sleeping, and I collapsed to my knees. I sobbed and and prayed. I ended up falling asleep on the bed kneeling and some time later Dayton came to wake me up.  He had written one of his mission President's for some counsel. His response will always be sacred to us.  I've often thought back to it over the past couple months, when I've needed some strength.  I went to bed with gratitude for a humble husband, beautiful baby girls, and special spiritual experiences I had as I prayed that night. 

 Over the next couple week things miraculously came together. My aunt and uncle in California have a brother-in-law who did a fellowship with a pediatric Opthamologist who is the chief of the vision center at CHLA.  We were deciding between getting testing in Texas or California, but having a family tie to a doctor felt like the right move.  I spent hours on the phone with our health insurance getting an override to see a specialist in California and tried to anticipate when we would be getting the test done over the summer. We were approved to travel to California for testing a few short weeks later!

 In the meantime we packed up and joined Dayton in Texas until Fall. Being at home as a family again was so incredible.  I remember so clearly the second night we were there. We all sat on the couch together watching the lightening in our dark house and I just kept feeling at peace and in love with the family Dayton and I had created.  Like no matter what was going to happen this was exactly where we were supposed to be and this was exactly what our family was meant to look like.  Mid July came quickly and we were headed to Arizona to drop Winsley off with family and my mom and I started the drive to California.

 Monday July 11th, 2016, was her clinic visit. We waited in the waiting room longer than any time we had been seen by a nurse or her doctor total.  The appointment was quick!  Her doctor didn't answer too many questions we came ready to ask other than confirming the possibility of Leber's.  We all decided to ask questions until we had results to look at.  We left the hospital and enjoyed exploring Los Angeles that afternoon, anticipating an early surgery time of 5:30 the next morning. I turned in early with Capri that night, again feeling extremely calm. I knew getting a flat ERG was definitely possible, but I think I was in denial that it could happen to Capri. Another one of our children having a crazy rare syndrome was too coincidental.  Testing day was a long, drawn out morning. We arrived at the hospital at 5:30am and began the waiting, testing, and giving her health history to every person that came into our room.

those cheeks!!!!!!!!

 We took lots of pictures. Capri did so well most of the morning! She was smiling and snuggling all while being hungry so we capitalized on it. :) When we moved up to the surgery prep floor she started getting fussy, naturally! Children's hopsitals are tough places to be for any length of time. Every time I'm there, it calls me to gratitude. We chatted quickly in the elevator with a mom who's 17 year old son was having back surgery and we saw severly handicap wheelchair-bound children. My heart broke for those children and their parents.  As we settled onto the surgery floor my mom and I distracted Capri as best we could from her hunger pains with toys and walks around her hospital crib. Her Doctor's NP came to check on us, review the procedure, and gave Capri some eye drops. I held Capri's hungry body in my arms while Kathy issued her drops.  I knew we were close to starting the test and I couldn't wait for everything to be over, no matter what the result! At 7:30am the nurse promptly came to get Capri and whisked her away for her test. We snapped a couple more pictures and headed downstairs to check in to the waiting room.

Best mom for coming with me!

^^Last FaceTime with daddy!!! One of my favorite pictures ever!

 It didn't seem too long before we were called back (about an hour and a half). The receptionist escorted us back upstairs, near the surgical waiting room, to the consulting room. This is where the anxiety came on strong. I kept telling my mom, "I hate doing this. I hate waiting. I hate waiting for doctors to diagnose our kids with really hard things."  I just wanted it to be over.  The Doctor walked in with a laminated white paper and a few other papers behind. I knew I was looking for ups and downs on a chart. No flat ERG no flat ERG, I kept repeating to myself. He showed us the laminated page first and I tried to listen but the first page I saw had ups and downs on the graph!! I let out a sigh. She was going to be just fine! It's not flat!! Then I mentally came back to the room, started listening to him again, and realized the laminated page was a sample graph. The sample graph showed a normal ERG.  Just as I realized that he pulled out Capri's results from behind the front page and I looked at her graph to see no hills. No dips. Just an essentially flat line. I think it goes without saying what my reaction was. I felt pretty dumb and completely devestated.  Capri is blind.

 My mom and I kept reassuring him (ourselves) but she see's us sometimes!! He agreed that the line and numbers shown were averages. It doesn't mean she see's complete darkness, but it does mean her vision is extremely poor. And I think extremely is putting it mildly.  How was I supposed to call and tell my husband, in the middle of his work day, that our baby girl was blind?  It was all I could think about. My mom took over with the questions we came in ready to ask.  Dr. told us to get in touch with the family specialists who can help answer therapy and support questions for us beyond the clinial diagnosis. After he left I gathered whatever courage I had to go call Dayton in the hall. I was hysterical from the moment I heard his voice. Our conversation was brief and emotional.  I came back to the consulting room and my mom and I sat in silence for close to ten minutes waiting to see Capri.  I felt empty during that time,  just staring at the white walls.  I couldn't wait to nurse and cuddle Capri. The reunion with your baby after "surgery" is the most tender thing especially after everything we just learned.  As we walked in to see her laying in the crib, I fought my tears.  She's so perfect and innocent.  She has no idea what's going on and that felt very unfair to me, for her.  Does that make sense? I don't think Why Capri? or Why me? very often, but in that moment I struggled.  Not Capri.  I didn't want this to happen to her.  And I don't wish it on anyone either!  I don't want there to be sick babies or hurting parents.  But for that moment I kind of resolved to just deal with those feelings another time.  I could feel her spirit ease my heartache.  I soaked up cuddles and tried to calm her body as she woke up.

After we left the hospital mom and I drove around Los Angeles sightseeing.  We talked little about Capri's news and tried to enjoy our time in California.  Honestly, even thinking about it was so incredibly painful.  I ended the afternoon dipping Capri's toes in ocean and tried hard to feel close to God, but not too hard that it would make me cry.  I can't even tell you how hard I pushed my emotions down.  I knew I needed to have a good cry, but I wasn't ready to go there yet.  The remainder of the day was peaceful and I was so grateful for my mom.  She could sense I needed to stay numb for the next day couple days and reminded me that it was ok to do so.

 So where does that leave us now? I'm grieving. We're grieving, and I think that's a process. Still trying to understand what our life will look like. Actually, I think that is my biggest flaw.  Looking too far ahead. I've been worried about canes, braille, school, and teaching her to walk. Her eyes will always be a little googly, but we're pretty confident she's some light so that's really positive!  The last few days have been the lowest for me, though. All those numb days caught up with me and it wasn't pretty, but it felt good. Real life of cleaning, grocery shopping, toddler tantrums, and trying to decide how to navigate this diagnosis is complicated.  I've described to my close friends and family the way I've been feeling the past few months--like walking up to my neck in thick mud with no sign of it clearing. Our trials are not even close to resolved, but I'm trying so hard to keep moving.  Moving towards Heavenly Father, knowing he is the only one who can help our family.  I have seen incredible miracles throughout all of this; too many to count!  I've had long meaningful chats with friends about why trials are so diffucult.  We've sat and cried about our fears and then circled around to how lucky we are too.

I've thought back to how I felt in her post op room that day and I think I'm coming out of that dark spot.  Life is hard, and it's meant to be.  Maybe that's the greatest lesson I've learned the past six months.  I'm honestly trying to embrace life's challenges, and doing it with genuine happiness.  I hope to be able to learn what I'm supposed to from Winnie and Capri.  I always worry about protecting them from pain.  Hurt feelings or hurt bodies.  I think that's natural to want to shield your children from the hard stuff.  I wish we could scoop up our girls and run away to an island and set up shop, but I'm trying to change my parenting strategy in that respect.  My job is not to teach them to run from pain or feel sorry for themselves.  I'm here to equip them with tools to deal with anything negative that happens in their lives.  It's going to happen, and it's ok when it does!  I want them to learn through their trials to be empathetic.  I want them to be kind to others who are struggling, to be kind even when someone isn't kind first, and slow to take offense.  I think they both will have a neat point of view on that.

The next step, medically, is to get her blood drawn for her genetic testing when we get back to Arizona. It's important for kids with Lebers to know their genetic mutation. There are about 20+ that have been discovered. Gene therapy is a big up and coming thing that could be used to significantly help "cure" the symptoms of Lebers. So depending on which mutation she has there could be some clinical trials we could get matched up with. I feel like that is a few years out, so we'll see! Another thing we need to do is get involved with the center for the deaf and blind. We need to arrange a home visit and see what they recommend for helping her crawl, walk, etc. The main thing I think we (I) need is access to the support groups there. It's pretty surreal and I have a hard time admitting I need to meet with support groups for all of this, but it's major part of accepting her diagnosis. 

 I'm beyond grateful Capri and Winsley have eachother.  They are two peas in a pod and I know they will be each others greatest confidantes. They are already a cute little team!  I imagine Winnie holding on tight to Capri's hand leading her around or playing on the trampoline.  Every night Winsley's prayers include "...and bless Capri's eyes."  She doesn't have any idea how much that habitual line means to us and her baby sister, but one day she will. 

Can you tell I really love when they sleep?? 

How I lucked out with the best kids and husband are beyond me. This is all I've ever dreamed of.  I'm pretty scared and I won't try and hide that.  But if there is one person that can make me feel confident we'll be ok, it's Dayton.  I think men tend to be Mr. Fix its, and that can be true for Dayton too.  But it is one of the things I admire most about him!  He puts his energy towards what he can control.  He doesn't dwell on things out of his power.  He works hard to provide and shows all of us unconditional love. I've never appreciated our differences more than now. Whether or not the world is ending tomorrow, sometimes it feels like it to me.  It's vital we have his stability in our family.  On my first "real mom day" back in Texas from our trip I lost it while Dayton was at work.  I called him sobbing and told him everything I was struggling with.  His first question was, "what can I do to help you?".  I couldn't give an answer, mainly because I was having a hard time sorting my thoughts in my own head haha but he told me to just sit on the couch and watch TV for 30 minutes to decompress. haha!  We talked for a little bit longer and I felt stable enough to hang up.  I got a text 5 minutes later.  "We're going on a double date to dinner and a movie Wednesday, lets get a babysitter."  (This is in the middle of his busy summers where he never takes off early.  Ever.) It was something I didn't know I needed, but he knew would mean the world to me.  I can't even describe how perfect he is for me.  

Our life is so full.  I am constantly amazed how peaceful things feel around here amongst the obvious chaos.  I pray we do right by our kids and hope they know how much we love them both.  To know Capri is to love her. She's the sweetest baby!  She lays down on almost everyones chest the second she's held.  I know her other senses have been heightened by this which makes her the best cuddler ever!!  She's the happiest in the morning and it has become our favorite part of the day. Her blue eyes completely melt me!  I love when she finally seems to focus on me and gives a huge smile back to me.  It's harder than you think to bond with your baby who can't make eye contact well. So when I get those smiles it's such a relief and it really does get me through my hardest days. Sometimes I sit and stare at her and I love to imagine how hard she fought to come in to the world.  Knowing what was ahead of her and being the strong girl she is, she was okay with it.  She was ready to go through life a little differently than most.   A little more of a spiritual or intuitive outlook since she won't have a majority of her sight.  I know she'll be a great friend, one to focus on someone's heart and not their appearance.  I think she knew very well that her big sister and her very imperfect mom and dad would grow from her simply being around.  She knew we needed some softening maybe and an added measure of spirit in our home.  In the nine months she's been alive I feel like we've all completely changed.  This will be a journey for everyone and we're so ready to provide the best life for her as possible.  It is truly an honor to be your mom and dad, Capri. Love you, sis.



  1. Oh, I am so very sorry. I know that the love you have for both of your daughters is tremendous; that you would not trade them for anything... but I also know how scared you must be. I promise you, with faith, love, hope, and persistence, your little family of four can get through anything. And, wow, they are just darling!

  2. Ali! You are seriously AMAZING! I read this out loud to Jackson and I'm pretty sure I stopped after every paragraph to say "I am so amazed by her faith" or "She is such an incredible mother!!" We are praying for you guys and all that you are going through. Know that you certainly are an example to us and I have learned so much about unconditional love through reading your blog with Winnie and now Capri! Those girls are so lucky to have parents that will do anything for them! You got this!! Endless prayers are heading your way!!

  3. Ali, your portray your feelings, love, and light so well. Thanks for sharing with us. We love your family and will keep you on our thoughts and prayers. If there's anything we can ever do to help, please let us know. I know my girls would love to play with your girls!

  4. Ali,
    I sure love you and look up to you. Your strength and grace has always been beyond your years. I love to read your words and keep up with your darling family. I am one of your biggest cheerleaders❤️

  5. Ali, you are an amazing young woman! God knew very well who needed to be Winnie and Capri's parents! I should introduce myself....I am Christina, a longtime friend of your wonderful mother in law Rondalee. God blessed our family with two special little boys that had a life expectancy of 5 years, they are now 18 and 19 years old. I just want you to know I am here for you if I can help in anyway. Doctors, agency's or just an ear or shoulder to lend. We have been learning new information everyday for the past 19 years. The boys have a genetic disorder along with it comes epilepsy, CP, scoliosis, they can not walk or talk but we know what they need and they are the sweetest souls I have ever met. Please feel free to reach out to me if there is anything I can do for your family! Christina Lopez ��

  6. Ali,
    So you don't really know me, but I came across your blog about a year ago and I have been following your cute little family since. Does that sound creepy, I don't mean to sound weird ha. Anyway I just wanted to say you are such an amazing woman, you are wise beyond your years. I look up to you and your faith. You handle everything you are given with such grace. I love reading your words and you are such an incredible mother and wife. Your darling family are in my thoughts and prayers.

  7. I am another follower who came across your blog and fell in love with your family. You are so courageous. You are an inspiring woman and parent. I just had to reach out and let you know that you have moved me with your strength, with your honesty, and with your faith. With your guidance, your beautiful baby daughters will grow to be amazing women, there is no doubt about that.