2018 Memorable Moments

Looking back at 2018 makes me smile to say, we made it. We survived. We had a big year with big changes and I am beyond grateful knowing that God guided our steps, our hearts, our decisions. I am beyond grateful for our family and friends who prayed for us and journeyed alongside with our struggles, our countless options, our indecisiveness, our purpose and decision. You know who you are, so let me just take this moment to say a big THANK YOU! If I can pray for you or be a listening ear, please know I will always try to be there for you in the same way.

To take you all back to the beginning of the year with our family and all that was presented to us is an emotional task that I’ve debated sharing the details of. The tears, the complicated decisions, the research, the phone calls, the counsel, our poor parents hearing our complicated woes, my sister hearing my daily stress and cries for help in our back and forth decisions, begging for guidance and pleading for prayer and hoping for the right decision to be made.

So let me share with you the highlights of Jan – April 2nd.

- To start the year off, three out of four of us had the flu - all at the same time. Matt was in the clear somehow – likely since he was away on a trip for the worst of it.

-Matt changed airline bases to Los Angeles. (and so, begins the chaos)

-Our goal was to end the commuting life for Matt and him missing countless extra days he could be home due to leaving a day early for work or a day late to get home. As a pilot, he’s usually always gone 4-5 days, but when that becomes 5-7 days because of the extra effort in commuting, we agreed, when his base changed again, we’d move to where ever that was, so we no longer had to miss that extra time with him and he with us.

- So, with the new Los Angeles base, we contacted a Los Angeles realtor. We were ready to make the move.

- I called schools, talked to CA principals, vision teachers, retired vision teachers, parents of blind children in the LA area, researched state laws of what our children would need to prepare us for enrolling them in their county’s special services for the blind.

-Scheduled time with our CA realtor to fly out to tour homes in person

-I talked to my boss to secure my job with a move to a new state

-We found a TX realtor and listed our current home for sale

- We sold our home!!

-We panicked! We were about to be homeless in ELEVEN DAYS!!

-In our ‘spare’ time, we looked at homes in TX to make sure moving to CA was absolutely the right decision

-We fell in love with a home in TX; signed a contract to buy – WHAT!!?? I Know, crazy, right? That was not the plan!!

-We decided we were not thinking clearly and that buying a home in TX was a bad idea. Matt found a great house in LA to buy so he went there to tour it and had plans to sign papers that day (remember we were desperate because we were about to be homeless in 11 days from the sale of our current home).

- Meanwhile I’m boxing everything up in our first home believing we’d be moving to CA in two weeks.

-Matt came home from CA and he did NOT sign the papers on the Los Angeles home. Something didn’t feel right about being there he said, and he had clarity that TX  was where we needed to keep our family.

-We tucked our tails between our legs and begged to get the house back in TX, the one we had already signed a contract on. The house we were in the works of backing out of. The house that we had not officially been released from. Thank the Lord!

- We got the house in TX!! And closed on April 2nd

- And now here we are. Feeling blessed. Feeling at peace. Feeling confident in our decision, God’s plan for us.

-Matt still commutes to work

-Matt still misses time with the family because he leaves early for work or catches a flight the next day home.

-Matt still stresses over figuring out his commute and schedule. But it’s the life we chose, and we know our kids are getting the best opportunities we know to give them. That is our purpose in this life. Skylee and Duke. They give us so much hope. So much joy! So much to be thankful for.

Well, I’ve certainly shared more than I had planned and reliving some of those details with you makes me tense up and get a bit weepy. But I can smile at the end of it all. We have amazing neighbors on our new street, something I prayed diligently about before our move. There’s a sense of community and friendship. The ladies on our street and in our neighborhood have embraced our family and made us feel at home with friendly introductions and welcoming us to the ‘hood. I’ve made good friends, met an amazing family whose daughter babysits for us. And I haven’t shared with you yet, but in this very same neighborhood, another family is raising a blind child the exact same age as Duke. BLESSINGS upon Blessings!!

There are other things I need to highlight that seem like light years away at this point. Skylee turned three in January 2018. And in TX, to continue receiving special services, children start the public-school system called Early Childhood School on their 3rd birthday. This started a brand-new routine with nearly an hour round trip for us driving her to ECS every morning.  She started riding a bus after school – picture your three-year-old on a big yellow bus! Then in April once we moved to our new house on the other side of town, Skylee was required to change to the afternoon ECS program due to bus route changes, which changed her bus drivers and all the new friends she had made in her short first few months in the morning ECS class. Skylee and Duke both had to change daycares to be more conveniently located near our new house, which meant interviewing and finding the right fit for our kids, all new teachers, all new classmates, even new school clothes to meet the daycare’s school uniform requirements.  It was chaos at the time, but we managed it and made it happen. We love the new schools and teachers so much. We miss seeing the faces at our old Montessori school though. It was hard to leave them since I was there daily, sometimes three or four times a day saying hello to teachers, other parents, the children, nursing sessions at lunch with my babies starting when Skylee was only 8 weeks old, and sitting in on therapy sessions with kids. The school was like family and will always be close to my heart.

We are making new memories in our new home now. Duke started walking this summer. Duke also celebrated his second birthday in our new house. Matt celebrated his 40th birthday so my parents offered to come to town and watch the kids for us while Matt and I took our first over-night trip together since we became parents, my first time away from the kids ever, to celebrate his milestone birthday. You won’t believe where we went to celebrate – that’s right Los Angeles. Oh, the conversations we had! But it was a good reminder that we were thankful NOT to live there. It was fun to visit though. And even better to come home!

We’ve now had our first holiday season in our new home and it was the happiest I have ever been decorating for Christmas. We even hosted our first Christmas party with our self-proclaimed Frisco Blind Tribe. Our beautiful tree has been taken down, but the magic of the season still brings a smile to my face. Our children adjusted perfectly to their new routines and new home and Matt and I are proud to start 2019 with less stress and more time for working on new goals for the new year!

Best wishes to everyone as we wrap up 2018 and ring in 2019 - you know, toddler style. Pilot wife style. Chocolate milk champagne glasses and toasts at 6pm with the kids. A call to my pilot wishing him a Happy New Year over the phone and in bed by 10pm with sugar plums dancing in my head…literally because I’ve got a birthday party in 12 days to start planning for my almost four-year-old who is excited to celebrate her day with the Sugar Plum Fairy – where does she get these big ideas!! 😊

Cheers to 2019!

Skylee's 3rd birhday

We were still recovering from the flu so the birthday festivities were a casual Ice cream social with Montessori school friends brave enough to be around us.  Then as a family we gathered our strength to make a few birthday wishes come to life with an attempt at Ice-skating and going to her first play to see Beauty and the Beast.

Skylee starts ECS and rides the bus back to Montessori

Sold our first home

We brought our newborn babies home to this house

Duke at swimming lessons

Duke's first haircut

Our new TX home!

My family on our front porch

Skylee and Duke celebrating the 4th of July on our sidewalk

Matt and I leave for his 40th bday trip

Duke took his first steps this summer and started walking with his cane in our neighborhood

Duke and Skylee walking with their canes for the first time together

Frisco Blind Tribe kiddos

Frisco Blind Tribe parents

A Call of Hope

Hi Friends! It’s been a while since I’ve written, mainly because life has been busy and there hasn’t been any major news. But, there’s some exciting news to share now! On cyber Monday, totally out of the blue, I received a call from the Retina Foundation where our entire family had our genetic testing done. This call was from the doctor there and he said he had been contacted by Doctor Pierce of Harvard University looking for candidates for genetic testing of one of the particular genes Skylee (and Duke) carry. They are planning to start testing on children as early as age three which is younger than any other testing I have heard of until now. We would likely need to travel to the clinic a few times during the process which could be over the course of a year or two.  We are currently waiting to hear from Dr. Pierce to learn more details so this is really all we know right now but we ask for your prayers as we learn more and make decisions. We are so happy to have this opportunity but here's a lot we will need to understand and we’ll need to do our own research.  So we pray we have all the information and ask all the right questions along the way.  At this young age, it will ultimately be left to Matt and I to make the right decision.

XOXO

km

Picture description: Skylee, age 2 walking down wooden steps using her cane.  

Picture description: Duke, age 15 months, sitting independently on wooden steps.  

White Cane Day 10/16/2017

Skylee and Duke had the opportunity to join in celebration of White Cane Day at the Dallas City Hall.  The morning events included a walk around the City Hall with many other adults and children proudly demonstrating their independence the white cane provides.

Sky and Duke were both on their best behavior showing off their ‘good’ side. So this momma got to wear a big smile as my heart swelled with pride by being reminded that the sky’s the limit for both Skylee and Duke. Skylee is still learning proper cane use and normally the phrase ‘Cane Safety’ is meant that a cane gives the Vision Impaired person ability to travel safely. But at the ripe young age of TWO, Cane Safety means - WATCH OUT FOR YOUR SAFETY; THERE’S A TODDLER WITH A CANE!!! It can be swung, tossed, twirled and anything in between. But today Skylee proudly demonstrated proper use and quite independently walked around the entire CITY HALL building  (at her own pace exploring all the cracks of the sidewalks, concrete and glass walls - thank you Ms. Jordan for all your patience!!).  After the walk we had the opportunity to listen to adults share their stories of independence, employment, and encouragement. Blindness does not mean limited; but quite the opposite- blindness is limitless! There’s nothing that can’t be accomplished. I’m so thankful we were able to attend and be a part of the celebration.

Special Thanks to our fabulous ECI team that organized our group’s attendance. These ladies have huge hearts and I will never be able to thank them enough for all the love they give and skills they are instilling in my children.  #blindkidscan #whitecaneday #whitecaneday2017

#eyeluvdallas #dallascityhall #skyleekate #dukematthewm #ECI

Skylee standing on the sidewalk of the Dallas City Hall building holding her toddler canes the sun shines brightly.  

Skylee holding her cane in her right hand, babydoll in her left. While mom and baby brother Duke kneel down beside her for the picture.  

The entire group sitting on a bench inside the City Hall in front of a large window. Pictures are five ECI therapists, two moms, and five children  

FINAL GENE DISCOVERY RESULTS

In my last blog post,  I shared that Dr. Chaing and Jennifer Stevens were going to help us undergo additional testing in attempt to discover Duke’s and Skylee’s LCA gene type. That was an exciting moment to know there was still hope even though we'd been given 'undiscoverable' results. If you would have asked me how long I thought the new discovery process would have taken, I would have guessed a year, maybe 5 or even 10 years. I really had no idea how long it would take but I was happy to know we were moving forward.  Well, let me tell you, we didn’t even have to start that new process. All the while, the UT Houston Lab that originally worked on our scanning was still undergoing extensive research on us even though they had already provided the ‘unknown’ results from their initial testing. 

Image description: 5/7/2017 - Skylee (left) Duke (right) dressed and ready for church.

We received a call from Kaylie Jones of the Retina Foundation on Friday, May 12th that the FINAL RESULTS are IN!! WHAT!? How could this be? We were already told we were not a match to any of the known gene types. But apparently the gene type I carried was new and had recently been identified in only one other person. Of course! Leave it to me 🙋🏼 to be the oddball carrying the rarest of the rarest of the rare gene causing so much complication!!

We recently received the official results in the mail and all the details are a little foreign to me but for anyone interested, we carry the CEP290 LCA gene (c.1347dupA; c.2991+1655A>G).   So what can we do with these results? Well, gene therapy is the next step. And believe it or not, on that same phone call where we received our gene results Kaylie also told us that clinical trials have just begun on our specific gene type!!!!! WHAT - WHAT! Praise God! Halleluiah!   Matt and I were so thrilled and shocked to hear this news. How did we go from knowing nothing and hanging on to only hope, to now, results AND clinical trials for a cure! Only God! And Your prayers!

Ok, so now that we are settling back into reality, we have to remind ourselves that this in no way means that vision is guaranteed to be restored to our babies but it does mean progress, wonderful progress.  The current clinical trial can’t be performed on children as young as Skylee and Duke and there are a gazillion other factors that determine if you are still yet a candidate and if these therapies will even work but the fact that there are 20 known LCA gene types and there are only 2 types currently undergoing clinical trials and WE ARE A MATCH TO ONE OF THOSE, is simply a miracle and I could not be happier with this news and to share it with all of our friends supporting us on this blind journey.

Image description: 6/9/2017 - Skylee smiling with her new sunglasses on and riding forward facing for the first time in her car seat.

Image description: 6/9/2017 - Duke sitting on a blanket with sister lying next to him at the gate terminal while we awaited our flight.

CEP290 Clinical Trial

https://clinicaltrials.gov/ct2/show/NCT03140969?term=CEP290&rank=2

Clinical Trial Outcome:

http://iovs.arvojournals.org/article.aspx?articleid=2628134;

Taking the First Step to Gene Discovery

Hi friends! I have an exciting update to share with you!  Just a couple weeks ago I was telling the story of how our children were diagnosed with LCA causing blindness from birth and how we learned that we fall into a very rare category of the unknown LCA genes. We thought that was the end of the road for us while we waited, hoped and prayed that scientists would discover someone else's matching gene.  Then it hit us! We need to be the ones scientist are researching! We need to be the first line of discovery and hope for our children.  God almost immediately opened a new door for us and I am writing now to tell you that we have taken the very first step in having our LCA gene discovered!

I was chatting with another LCA adult on the LCA Facebook page (Facebook has a group for everything these days, right) and they mentioned that Jennifer Stevens, the mother of another boy with LCA, was instrumental in helping to discover her son's gene. Her son, Gavin, was recently on the show Little Big Shots.  You have probably seen the clip I've shared on my Facebook page. Gavin is quite the talented young man especially to only be 7 years old! He has been invited to sing our National Anthem at many professional sporting events too. Very cool! So with the recommendation to get advice from Jennifer Stevens, I immediately reached out to her to ask her opinion about where Matt and I could start in order to get our genetic research going and in the right hands. 

 Jennifer quickly replied to my email and shared that since the discovery of her son's gene, she now sits on the board of the clinic doing research and is able to get a few families in each year for testing and she would be glad to get us in touch with the doctor. I was so excited and quickly reminded that God is everywhere! In everything we say and do and He weaved together the perfect little path that lead us to this special momma who was instrumental in helping discover her own son's LCA gene.  I gave her all the details of our past DNA testing and she has already started talking to Dr. Chaing of the Molecular Vision of OR (MLV)! There's no guarantees but it's a start, a great start I believe.  We will have a talented and experienced doctor reviewing our exact DNA.  Not waiting for someone else's to be discovered and hoping we are a match, but this is a fighting chance that results will be found on our own DNA and hopefully we can help others someday too! I am not sure of the exact next steps but it will likely involve providing new blood samples from both Skylee, Duke and possibly Matt and I as well. I cant wait to see what's in store for us next! 

Please pray for the doctor and research team in their discovery.  

Happy tears!  Happy smiles!! 

Here's a link to Gavin's story. https://www.molecularvisionlab.com/lca-gene-discovery/

Image description: Family photo taken March 19, 2017

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!

Happy National Pancake Day

It's National Pancake Day! This is my not-so-post-worthy post! I envisioned cute little heart and star shaped pancakes for Skylee's breakfast this morning. These are in fact two of her favorite shapes, aside from circle and square of course, and I was going to attempt my first decent 'Mom moment' this morning in a very long time. I haven't had the time or energy to even consider a fun breakfast for Skylee in ages so today, with a little prayer and determination, I was going to make it happen. And so I did, sort of.  First I had to sneak into Skylee's room and borrow her IKEA star and heart shaped cookie cutters she received from Ms. Jordan for Christmas because I have no cookie cutters of my own! Insert Christmas gift wish list here. I washed them and then gently poured a tiny bit of pancake batter into the shapes that were placed on a sizzling, hot griddle! 'Ooooh no! Too hot!' So I quickly turned the burner down and tried to scoop the shapes of nearly burned batter to the cooler side of the griddle. That failed since the batter was still raw and gooey on top and spilled through the cracks when moved. I tried it again and this time it was almost perfect until it was stuck to the edges! Ugh, spray! Why didn't I think to spray the cookie cutters first?  So I scrubbed the shapes to try to get the stuck-on, gooey mess out of the corners of a tiny star, using Dukes bottle cleaning brush by the way! After the third attempt I got one beautiful star-shaped pancake. By now, Skylee is getting hungry and walking around my legs in the kitchen. I offered her the heart pancake and in my best teacher/mommy voice explained to her to 'feel the shape; what shape is that? This is a pancake so you can eat it.' She skipped straight to shoving the entire lovely pancake into her mouth and in one swift bite, POOF! All that work, vanished into one hungry toddler's little mouth! All remaining pancakes were in her other favorite shape, the circle, and present a perfect learning opportunity for small, medium, large, and misshaped circles! LOL #momfail

National Pancake Day February 28, 2017

Skylee's Low Vision Screening

We are home from another eye exam for Skylee. Today's visit was with Dr. Fleming at the Low Vision clinic down in Dallas. Low vision is a term used to describe eye problems where there is no medical treatment, surgery, or lenses to correct the problem. Being blind, Skylee definitely falls into that category so we went along to the appointment as recommended by our TX services specialist and I can't say enough good things about Dr. Fleming. She was so personable and wonderful with Skylee.  

To give you a little background on how our morning started, we began at breakfast by explaining to Skylee that we'd drop Duke off at school then take her on a little road trip (anything over 5 minutes in the car with a toddler is considered a road trip!). We let her know she'd be seeing a doctor to check her eyes and to play with her. I didn't really know much more so I stopped there with my explanination. Skylee usually thrives on these types of simple explaniations however, I had forgotten about the tramatic experience two weeks ago at Skylee's two year check up. I had forgotten but Skylee had NOT! She repeated that we would go to the doctor to check her eyes and then she'd scream in terror. This continued the entire hour and a half drive through 8 a.m., stop and go, Dallas traffic! Matt and I had scurried around the house to get everyone ready, Duke off to school and on the road with no time for coffee! This combination did not make for an exciting road trip!

Back to the appointment news...Like I said, Dr. Fleming was amazing right from the start. She worked well with Skylee, being hands on and speaking to her in a fun, interactive way. Skylee did surprisingly great following directions when asked to 'clap when she saw the light' as Dr. Fleming held a pin light in different directions in front of her eyes. Skylee got so excited giggling and dancing in place when she recognized the light. It was super cute to watch Skylee's responses.  It was great to have a doctor's confirmation that there was indeed light perception and also some decent light projection which can help her identify where the light is coming from.  It may not sound like much to you and me but when there was once a time we believed Skylee was living in total darkness, this type of confirmation is very exciting!

Skyleey's two year check up

It's been 6 months since Skylee's last well check up and what a difference the time made. Skylee is normally excited to visit the doctor's office and explore the rooms and listen to the crinkly sound the paper makes on the patient beds. This time was a little different though as she was very aware of every little prick and prod happening and was not easily distracted like times in the past. Matt was home to join us at the doctor's office and be a witness to the special occasion, lets call it. Skylee was a little hesitant at first of having her temperature taken with the new ear-reading thermometer (although much better than the old school way - yikes).  The body length measuring and the scale weighing went fairly well and we were told that she remained around average for her age as she normally always has been.

Ok, fun time is over, let the crazy begin. Skylee knew something was up when mommy was asked to hold her arm still while the nurse squeezed her hand tightly and did a finger prick! "OUCH" said the nurse and there was near silence from Skylee. Whew that was easy, I thought for a brief second. WRONG! The nurse had somehow pricked herself instead of Skylee. She said that was the first time that had ever happened and tried to regain our confidence in her skills. We've known this nurse since Skylee was born and there was never a doubt in our minds of her ability. So we braced Skylee again for the second attempt and immediately the immense screams and tears began. Let me tell ya, this girl has a set of lungs to pierce right through you. No doubt, the nurse got it right this time and she squeezed hard to get the extra drops to come out for the iron screening test. Then came what might be a calming affect for most kids, the Band-Aid. But oh no, not for our precious, darling Skylee. No Band-Aid in the world was going to fix this pain and she continued to scream and whale at the top of her lungs. So momma pulled off the Band-Aid in hopes to give her some relief. The nurse, obviously not thrilled with this decision, quickly wiped her finger with an alcohol pad, you know, to make sure she could scream a little louder! The nurse walked out and it was just mom and dad and Skylee in the room as Dad and I took turns trying to settle our little girl. Nothing helped, not even a cookie that we had decided to grab at Starbucks as a last minute idea for this exact moment. Well, maybe the cookie helped a little but only in the moment she was eating it. As soon as the bite of cookie was gone, the tears came back. We couldn't give in to her request for more cookie though because we knew the drama didn't end there. There was still one shot left at the end of the visit.

The doctor walked in a few minutes later, still Skylee sobbed and was terrified at anything touching her for the remainder of the visit. We all talked loudly over the cries and while the doctor may have been used to this reaction, momma was not. I'm used to being able to sweep in and calm her fears and tears quickly but that was not the case. No talking, singing or dancing helped. We made it through the doctor's checkup by quickly answering questions and then waited again for the next nurse to come in.  When the next nurse arrived there was nothing left to do but hold her tightly and let the nurse do her thing. The shot was much quicker and less painful than the finger prick in the beginning. My first thought was 'why would they do the finger prick first!? Even I don't like those things- they really do HURT!', but I quickly realized they have to take it first in order to run the iron level test during the remainder of the visit. So after the shot we gave Skylee more of the cookie and quickly got her dressed and out the door. It was a checkup to remember for sure. Lets just hope she forgets it between now and the next visit at her 3yr appointment.

Skylee's two year check up- a little calm between the storms! January 26, 2017

Skylee's two year check up- a little calm between the storms! January 26, 2017

A lunch full of HOPE

A few months ago while I was still on maternity leave with Duke, I remember sitting down with him on the couch and turning on the TV. Watching TV in the morning was a rare treat for me so I was excited to settle in with a cup of coffee, get some baby snuggles and watch Kathy Lee and Hoda.  While I watched and waited for the TODAY show, I found myself catching up on the local morning news and a clip immediately caught my attention.  I heard the news anchor open with "It's estimated that 1.4 million children in the world are blind". My ears perked up! At the time, we knew we were raising one blind child, Skylee and were still unsure of Duke's vision, although I was beginning to have strong doubts at that time.  As I watched and listened, I saw a very familiar face of a boy named Ollie and his family mentioned. As the picture of Ollie was displayed on the screen I was getting so excited because, HEY, I know this handsome little boy! Those that don't know Ollie, well, you should get to know him. Follow him and his momma, Mimi Parks on Facebook. This family was the very first real hope I was given by someone who was leading the path of raising a blind child.  

I met with Mimi for coffee one morning when Skylee was only about 6 months old and had  just been diagnosed with LCA.  Her son Ollie who is also blind is making a huge difference to all those around them and that's exactly what the news clip was about. A non-profit organization right here in my backyard had been created to help children like mine, like Ollie and like the founders very own child Finely who was born blind. I had never heard of this foundation FearlessHOPE before and I felt so blessed and excited to know that an organized foundation was at my fingertips as a resource to connect with others walking down the same path as Matt and me. 

Immediately following the news clip, I googled FearlessHOPE and read the stories of all the children they have been reaching out to and helping. I gave them my information online and told them about Skylee and possibly Duke.  I later exchanged several emails and a phone call with both Chris and his wife Dallas, parent's of Finley and founders of FearlessHOPE. 

I'm writing this now to say that I finally had the opportunity to meet Dallas in person. We chatted over lunch and shared stories of our children and laughed and well, I cried at one point...you know that big ugly cry you try to hold back because you are out in public which only makes it that much uglier! It was a breath of fresh air to talk with Dallas. Someone who gets it! Truly gets it like only someone who is walking a similar path gets it. Our stories are different. Our struggles are different. But we are the same. We both have HOPE for our children. HOPE for a future. Dallas was a true testimony to look deeper into my spiritual life as she calmly and clearly prayed over our meal and children. Her stories spoke the Truth of God's wisdom and how He has guided her and Chris's steps as they had to make many tough decisions over the many surgeries for their daughter’s eyes. God's path is not always clear but it was clear to me that the Fears were making God a priority on their journey to guide them along the way. I hope and pray that I continue to grow in my faith and let God guide my family every step the way. Thanks for a great lunch Dallas!!

Checkout the FearlessHOPE organization and see the HOPE that the Fears family is bringing to this community! http://fearlesshope.org/

And if you want to check out the news clip that caught my eye that morning here’s the link to it. http://www.nbcdfw.com/news/health/Frisco-Family-Launches-Group-To-Help-Visually-Impaired-Children-399731781.html

Out of town and Duke's first two little teeth came in

Is there really any better time for a baby to be teething than the 6 hour drive home from visiting family out of town? Yes, baby Duke's two bottom teeth have poked through! An exciting milestone to always remember but it isn't always exciting to live through. At least in my experience, teething is pretty miserable for the baby and everyone else around but it's nothing fatal. Everyone survived and the hardest part is over. Now to wait for the next ones to make their painful reveal.

We had a great visit with Matt's brother Ford and his wife Christina. They have children very close in age with ours so it's a lot of fun to see them all together. Skylee and Sterling are a year and a half apart and it's really cute watching them play like big girls now. Baby Duke and cousin Kal are only 19 days apart which makes it super special to see them together.  Matt's parents, Bill and Martha also came in from AL for the weekend and brought along Martha's mother whom we know as Nonna. I know it's harder to travel with Nonna but I thought the timing was great for her to come along and have some more memories with her. She's 93 and her health has been better as well as her memory but she still has a little spunk in her that makes us all laugh. I love her witty comments about always having room for a cookie or chocolate ice cream. I had the opportunity to take a lunch plate to her and she said "Service with a smile. I like that." It was cute to see the big smile on her face as she said it. I had hoped to capture more pictures with her but we only managed to get one with the baby boys. And even that picture was a challenge because when we asked if we could take her picture she was a little reluctant but we snapped a quick photo anyways and I think it's quite precious! 

Ford's house was packed with fun things to do with the kids and we had great January weather to enjoy outside playtime! The men took the girls fishing while the ladies stayed home with the babies to enjoy a little down time on the beautiful front porch sitting in big rockers overlooking the lake.  After fishing, Skylee got to ride with the daredevil Sterling on the toy Hummer. The girls jumped together in the bounce house, played in the backyard on the play yard set equipped with a big slide and swings. I love seeing Skylee develop doing everything her sighted cousin does. Pure joy to this momma's heart! 

We really couldn't have asked for better weather! Friday evening we got to enjoy a glass of wine sitting out by the backyard fire pit next to their lighted pool.  Mimi made cupcakes and shared her new favorite cake mix by the Cake Mix Doctor! They were so yummy and I can't wait to try making them at home sometime...maybe a fun valentines day treat (saving the link here for my own future reference http://cakemixdoctor.com/).   Skylee was in heaven and talked about the trip the entire drive home and no doubt bits and peaces of the visit will come out in her conversations for weeks and months to come.  

Great Nonna with Baby Duke and Baby Kal

Skylee Going fishing

Girls can have fun too!

Cousins

Road Trip

Just when I need sleep the most, the baby wakes an extra time in the night and I am awaken at 5:45 by the toddler sneaking into my room! I need more sleep every day but today we are leaving after I finish working... the whole family. All five of us. Yes the dog too!  ...to drive to Mississippi to visit Matt's brother and his family. I'm excited to have a little get away because working from home can give me a case of cabin fever, big time. I'm a homebody and a natural introvert but I need to get out of the house more than I do.  Ok, so I'll be sitting in a car for seven hours but at least it will be a different scenery, sort of. It will be dark and mostly headlights zooming past. But none the less, I'm looking forward to it. 

I took the kids home to my parent's in AR at Thanksgiving and to prepare Skylee for the trip, we talked about it for weeks ahead of time explaining that we will be in the car for a long time and she can listen to her favorite music and sleep. The girl did NOT sleep more than an hour for the 10 hour drive! Oddly enough, we had the best time. Who knew a 22 month old could make the long drive so fun. I'm hoping for the same turn of events on this drive tonight. The only difference is that daddy will be with us this time which will be a huge relief at stops to fill up for gas and potty breaks and walking the dog. 

Daddy had the kids out the door and off to school early this morning so mommy can work, finish packing and get ready for the trip. Skylee knows she will be picked up early today from school after nap time, come home, take a bath, eat dinner and get in the car (the ROAD CAR as she calls it) and go on a ROAD TRIP (as Skylee says)!  What are you're best tips for long drives with a baby and toddler in tow?

Skylee and Duke before school - January 19,2017

Baby Glasses are the cutest!

Some may look at a baby in glasses and think, oh, poor baby. Not me!! I see a baby in glasses and immediately oooh and awww over the adorableness!! ESPECIALLY when that baby is MY BABY!! Duke wasn't so sure of this new 'thing' touching his nose and ears and was a bit squirmy when we tried the glasses on him. But being the chill baby that he is, he quickly gave in and let us all look at him in his stylish little baby frames! HOW CUTE IS HE?! It reminded me of Skylee when we tried on her little purple frames for the first time! It will be a couple weeks for his to be ordered and come in so here is a picture of the test frames. What do you think of the charcoal grey? We almost went with a bright, true blue. Should we make a quick change to blue while there's still time? I can never make up my mind 100%! He will look cute in either color!

Duke's glasses fitting January 17, 2017

Skylee's glasses fitting July 30, 2015

Eye pressing means time for Duke to get glasses

It's MLK day and Skylee and Duke are home from school. Matt is also home and we are planning to take Duke to the Eye Doctor's office this evening to get fitted for his first pair of glasses. Until just the past few days, Duke only rarely pressed on his eyes with his hands, but now it's a constant for him. Just like his sister, the glasses will help prevent him from pressing on his eyes which can be damaging to the eye socket. I am told eye pressing is a normal habit of blind people of all ages. It's comforting. It provides stimulation to the eyes. But it can be damaging so we are constantly repeating to both Duke and Skylee, hands down - no press, as reminders to them not to press when not wearing their glasses. Glasses give some sort of pressure around the eye area to help allievate an urge to press.  Glasses are also a protection barrier in case they were to bump into something. Pressing is not totally preventative but we can help.  I can't wait to share pictures of his fitting and let you all know what shape and color we chose for him. :)

"Faith is taking the first step even when you can't see the whole staircase." ~ Martin Luther King Jr.