The Results are in: Timothy and CRB1

If you have not had a chance to read Timothy’s Story yet I have linked it here so you can catch up to where we left off on diagnosing his condition.

Timothy at 4 months old laying wrapped in a hospital blanket sleeping with an IV in.
Getting a preliminary Diagnosis.

Back in August we saw an ophthalmologist at the Alberta Children’s Hospital in Calgary where we live. Within a few seconds of doing the dilated eye exam he told us that Timothy had a problem with his retina and would be required to see a specialist out of Edmonton (about 3 hours away). He wrote down the words Leber Congenital Amaurosis on a piece of paper and told me this is likely what is affecting Timothy but we will need to undergo further testing to find out.

I started doing research the second I stepped out of his office and felt like there was not one thing about Leber Congenital Amaurosis or LCA I had not already read about (or so I thought). The only thing I needed to know was if my son truly had it. We waited three months for our appointment and it was a long hard day as my husband and I decided we would just drive down for the appointment and then come back home that night (6 hours of driving total).

When we first arrived Timothy had to go for a test called an Electroretinogram or an ERG. For this test he had electrodes placed underneath each eye and then a small camera like device was placed over his eyes and flashed different lights into them with both the lights on and then in the dark. The ERG reads the response of the retina to the light signals in both the light and dark settings. This test is used to help confirm a diagnosis of LCA if the response from the retina comes back severely abnormal or almost nonexistent. After receiving that test we got to speak with the specialist. He told us that the ERG showed little to no response from Timothy’s retina in both the light and the dark, he also examined Timothy and agreed he has little or no useable vision (especially central vision).  Although he said it is clear Timothy does not focus or react to visual stimulation, he also said that we won’t know exactly what he can or cannot see until Timothy is able to express that himself.  With these findings he said that we are looking at the diagnosis of LCA and the next step would be genetic testing to confirm 100% and tell us the gene type. We were luckily able to complete the blood work before we even left the hospital and began our 4 to 6 week wait on results.

Timothy at 6 months old. He has blonde hair and blue eyes. He is laying naked in a bassinet with his hands together holding his soother.
Sweet Timothy.

As soon as 4 weeks had hit I was anxious to hear back, I was confident that they would find something but I still had that nagging feeling  of what if they cannot figure out what is going on with my baby.  At 4.5 weeks I caved and called them to check in but there was nothing yet. As we got closer to Christmas I knew that if I didn’t hear back by the 6 week mark I likely would not have a result until the New Year. So because I am one of those moms I called again a couple times and on the 6 week mark exactly I finally got the call back. First she told me it confirmed the diagnosis of LCA and then she said the gene is called CRB1.

CRB1…okay. I recognized the name from a few families I had started following on social media.  The genetic counsellor went into details on how it is recessive and what that means in terms of future pregnancies with my husband (25% chance each child) and the chances of my children being carriers. She told me how this gene is only linked to vision problems and nowhere else in the body would be affected (thankfully). She told me they would have James and I complete genetic testing as well to show the whole picture of how the “non working copies” of the gene were passed down to Timothy. She wished me a Merry Christmas and that was it. CRB1 was now the final diagnosis.

This whole time we were awaiting the results I had promised myself I would not get my hopes up for a specific gene.  There is only one that has an FDA approved treatment in the USA and then only a couple more undergoing clinical trials. See after we got this diagnosis I had emerged myself in a community of parents going through LCA diagnosis’ and I was seeing some really awe inspiring kids regaining their vision from the one treatment. For me, wanting Timothy to receive the treatment had nothing to do with making life easier or simpler but had everything to do with those waves of grief that come with the loss of his vision. Even though I had told myself not to do it I let my mind wander into the thoughts of Timothy seeing me smile at him for the first time, or seeing the snowfall outside, or maybe a waterfall, a sunset, a flower. Yeah I let myself fall too far into those what ifs. So when I heard her say CRB1 the first thought I had was not very positive.

Fortunately we have been working through this diagnosis of LCA for months and I was quickly able to bounce back into my “how can I best help Timothy succeed” mode.  Within the day I was in touch with several great families whose children also have LCA CRB1 and they were so comforting and encouraging. Then I was able to connect with Kristin Smedley who not only has two sons with LCA CRB1 but has also started the curing retinal blindness foundation for CRB1, wrote a book called Thriving Blind, and has a TED talk about her story which really resonated with me.  Connecting with these amazing families who have all been where I am now has meant more to me than I can put into words.

Writing this blog and sharing our story and continuing to share our journey has been so therapeutic for me. I have made so many connections and not only with other LCA parents but parents whose children are blind or visually impaired from other conditions. I have also gained so much support from family, friends, and even complete strangers.  I hope that through this blog one day I can help a family who is just starting their journey into LCA and that I can be an advocate for not only my son but the blind and visually impaired community. 

Timothy a blonde haired blue eyed 8 month old. He is smiling. His blue shirt says best brother in the world.
My Happy Boy.

Thank you so much for everyone who takes the time to read my posts. I can’t wait to continue on this journey together to show the world that Happiness is Blind.

Dear Hailey

A letter to my first baby.

My Hailey,

It feels impossible that you are already 6 years old (a third of the way to adulthood!) yet I cannot think of a time when I did not have you in my life. Some days I can so clearly remember the way your voice used to sound when you were just learning to talk and your little toddler quirks. Then other days I feel like I look up and you have changed completely right before my eyes. Being a mom can be so conflicting because I am constantly torn between wishing you wouldn’t grow so fast and being grateful that I am lucky enough to watch you grow.

Hailey at 3 years old. She has brown hair and is wearing an Ariel themed bathing suit. She is smiling standing in front of a waterfall.
My adventurer.

 You will always hold an extra special place in my heart because you are the one who made me a mom and completely changed my world. Ever since I saw those two pink lines I knew you were meant for me (even though I was only 18). I cherish those first couple years when we got to spend every day together. Those years made me fall in love with being a mom and built a bond between us like no other.  Raising you has made me into the person I am today and given me the confidence to add two more children to our family.

Melissa a 25 year old with long blonde hair and brown eyes with her daughter Hailey a 5 years old with brown hair and brown eyes.
My Hailey.

We have been a team since the start and your grace in our ever changing family has amazed me. You welcomed an awesome dad who loves you so much into our family at such a young age and then quickly gained two little siblings. Watching you the past two years as a big sister has been the best experience yet. I love seeing my baby girl evolve into a kind, caring, and compassionate little lady. The way you have adapted to having Timothy in our family has made me so proud of the person you are becoming. You embody acceptance and inclusion because you view Timothy no different than anyone else while simultaneously being considerate of his needs. Every day with you I learn something new and gain more hope for the future. I cannot wait to see where this life takes you because I know you will do amazing things.

Hailey with her brown hair down, wearing glasses and a purple shirt. She is smiling beside her brother Timothy. He has blonde hair and is wearing a Canada Day onesie.
Best Big Sister!

Hailey, you are the leader of our little pack, our comedian, our adventurer, our sensitive heart, and most importantly our big little girl who we love unconditionally. Never stop being you.

6 year old Hailey with her brown hair in a pony tail, wearing glasses, and smiling.
This is 6.

Love, Mommy

Home for the Holidays

Boundaries and Learning to say “No” at Christmas

Full disclosure, I have been stressing about Christmas since we learned that Timothy is blind (in August). This time of year is always so busy and there is a sense of obligation to spend time with everyone you know during the holiday season. Unfortunately I am a people pleaser and that sense of obligation usually has me backing down on any boundaries I set for myself during Christmas time but this year is going to be different.

Brown haired 6 year old girl in a pony tail and glasses smiling in front of the Christmas tree.
‘Tis the season.

Since Timothy is blind it is quite easy for him to get over stimulated and scared. Mom and Dad are really the only people he knows and being in an unfamiliar space with tons of voices he doesn’t recognize and people constantly touching him is not fun for him.  To be honest it is not fun for me either as I am constantly worried about how he is feeling, and dealing with him crying every time there is a new noise or a new person trying to hold him.

Aside from the fact those things are not fun, they are also not fair. Why should Timothy have to spend his first Christmas stressed out and uncomfortable? When it gets to the point of over-stimulation he can be inconsolable and the effects usually result in a cranky baby for a few days.  We have been in this position a few times over the past four months and I always regret not standing up for my family’s needs.

If there is anything I have learned about raising a special needs child it’s that I need to be his biggest advocate.  So when it comes to Christmas this year James and I came up with some guidelines for our family. I have decided to share these on here for other parents either with a special needs child or not (all families need boundaries) in hopes that others can see it is okay to say no in the best interest of your family (even to old traditions).

Curly brown haired two year old girl placing a green Christmas ornament on the Christmas tree.
Christmas Tree Decorating

These are the four guidelines we decided upon to help us get through the holidays:

  1. We are not going out of town: This is probably the biggest decision we made to cut down on holiday stress. Last road trip we went on Charlotte and Timothy each cried and screamed half the way home. Aside from the fact that young kids don’t want to spend half their day sitting in a car seat, we live in Canada where the weather is unpredictable and the roads are not always safe.
  2. We are not over committing ourselves: We definitely have made some fun holiday plans with family and are super excited for the kids to experience Christmas with their cousins. As much as we have a lot of Christmas events we would like to enjoy, we didn’t pack our entire break with plans so that we make sure to have some quiet family time and give Timothy (and the girls) a chance to relax at home between commitments.
  3. We aren’t spending tons of money: This is something we have done the past couple years but it’s important to bring up. We do not go crazy on gifts, actually we generally only buy for the children in our family (our own and our nieces). We usually go with a nice Christmas card and some updated kid photos for grandparents, great grandparents, and aunts and uncles. The first year we did this it was out of necessity and we had some comments from an extended family member on it (which did not feel good). Now that we are in a better spot I almost wavered on this plan but we decided our budget and savings plan is more important to our family’s future, as the children want to do more activities now and with all the upcoming costs for specialized items for Timothy. Christmas is not supposed to be about gifts anyway and I much prefer the time spent and memories made than an item that will be forgotten about quickly.
  4. We are advocating for our intended family’s needs: This one can be a hard one especially for families that are just starting out. When you get married and have children it can be hard to detach from your family of origin to make your own traditions and plans. Sometimes you decide to still partake in certain traditions all together and other times you don’t. For us, we are planning to be a part of several events with extended family over the holidays but only when it is in the best interest of our intended family. If someone in the family is sick, overwhelmed, or too tired we might cancel or leave an event early.  If someone we have plans with is unwell, we might reschedule to protect our children’s health. This year we are trying to make sure we do things that work for our family and that might mean keeping the kids close to their schedules for bedtime, and saying no if Timothy is overwhelmed and doesn’t want to be held by someone other than us.

These four guidelines we have set are not intended to make anyone frustrated or unhappy with us but instead are boundaries we created in order to have a fun and fulfilling Christmas. It is always okay to speak up for your needs and your family’s needs.

Lit up Christmas tree with a silhouette of a dad holding his infant baby boy in front.
Timothy’s First Christmas.

As always thank you to everyone who reads my posts I have loved making so many new connections and I hope you all have a Happy Holidays!

A letter to the mom who’s child just received a diagnosis:

It’s okay to grieve.

Dear Mama,

I know it has been a long and tough road and yet you are only at the beginning. There has been sleepless nights, never ending days, endless google searches, and too many tears. Ever since the first thought of there being something “different” about your child, you have not been at peace. You have wondered what, why, and how. You have blamed yourself for not remembering your prenatal vitamin everyday, or for that one time you caved and ate unpasteurized cheese during your pregnancy. You have scolded yourself for not recognizing what was going on sooner, or not pushing the Doctors to look harder. And then all at once you have quickly forced yourself into acceptance and bravery. You know your husband does not understand half of the medical terms being tossed around, and your mother is beside herself with worry for your child so you have to be there to support them. Speaking of your child, how can you show them anything but bravery and acceptance? This is their life after all and they are so young and innocent. This diagnosis changes things, possibly everything. You have to keep it all together, the dishes, laundry, making meals, signing field trip forms, blood tests, specialist appointments, the list only gets longer. You make all the calls, telling family and friends the same information over and over, always answering “I’m fine” if they ask how you are handling things.

But Mama, you are not fine and that’s okay. You are allowed to feel the roller coaster of emotions this diagnosis came with. You are allowed to be angry and blame the universe if that gets you through the day. You are allowed to be afraid for every single worst case scenario that could come your way. You are allowed to laugh at things that are completely inappropriate at the time. You are allowed to eat every piece of chocolate you can get your hands on. You are allowed to ugly cry into a pillow. Your life just changed in a big way too. And tomorrow or two weeks from now you will get up and continue on with the bravery and acceptance because you are a great mom. But until then feel all the feelings, let yourself go through the healing process. It’s okay to grieve.

Sincerely,

A mama who’s been there.

My Christmas Village

When I was pregnant I was so excited that Timothy was going to be a little older than the girls were for his first Christmas (the girls were November and December babies). I thought it would all be so magical and fun for him. Fast forward to December and I just can’t seem to get into the holiday spirit. This is where the everyday struggle for acceptance comes in. Do I know Timothy is blind? Yes. Do I know he will be okay and have an amazing fulfilling life without sight? Yes. Is it hard to set up a Christmas tree full of ornaments and lights and have Timothy not even turn his head in that direction? Also yes.

Christmas tree full of ornaments including little Elfs. Santa Christmas countdown Calendar in the background.
Oh Christmas tree.

It is hard to watch my daughters’ eyes light up when they see the Christmas tree and know that he won’t experience that. That sadness can sometimes weigh me down but luckily I have amazing people around me who can bring me back to acceptance and happiness.

8 month old with a soother in her mouth in front of the Christmas tree
Timothy’s first Christmas.

My mom is one of those people. She dropped off a Christmas tree and ornaments for us but that wasn’t all. She put extra thought into how to allow Timothy to experience his first Christmas. A musical book of Christmas songs, ornaments with bells on them, even some cinnamon scented sticks for the tree. She made it possible for Timothy to experience the Christmas tree in a completely different way. I am so grateful to have such an amazing mom to help me through this journey and remind me of the true spirit of Christmas.

Christmas song book. Elf ornament with a red, green, and white hat with a bell on it,. Green and red Christmas bells. Scented cinnamon sticks for the tree.
Thanks Mom.

Dear Charlotte

A letter to my middle little.

Oh Charlotte,

How in the world are you already 2 years old?! Some days it feels like you were just born yet on the other hand it feels like you have always been apart of our family. I sometimes feel guilty about our time together because there have been so many distractions over the past two years that have affected what I got to spend with you. When I had Hailey I got to spend two and a half years home with her everyday but with you I was back in classes weeks later and then immediately working, it was hard for me to miss any second with you. I am so grateful that for the past 8 months I have got to be home with you again because the year of being 1 was my ultimate favorite with your sister and I really didn’t want to miss yours.

18 month old girl with curly hair wearing a purple unicorn sweatsuit
Charlotte the Unicorn

You changed so much this past year with learning to walk and then quickly learning to run. One day not long ago you woke up speaking sentences where before there were hardly words. I love watching your evolution into childhood yet I wish we could hold onto those little shreds of baby you have left, like when you snuggle into my shoulder if you are tired and how you still need my help to get your PJ’s on. I already can see the last traces of baby leaving your face as you grow taller and smarter every day.

16 Month old curly hair girl holding her newborn brother
Big Sister Charlotte

I know you were only the baby of the family for 16 months and being a middle child is not an easy task. I hope you know that your role in our family is much more and you should never feel replaced or question your worth. But if you ever need reminding I will always be there to tell you how smart you are, how important your presence is in our family, and how absolutely unconditionally loved you are.

@ year old curly haired girl sitting in a pink wooden rocking chair with blue balloons behind her
Charlotte turns 2!

P.S. Don’t grow up just yet stay little just a little bit longer.

Love, Mommy

Timothy’s Story

When we found out we were expecting our third and likely final baby I had a lot of feelings. The first feeling was surprise, we had only started trying and I had not expected it to happen that fast. Then there was a tinge of sadness about this being my last time experiencing pregnancy, newborn snuggles, and all of the firsts (I plan to write a deeper post on those feelings later). And of course there was the feeling of JOY because we were about to welcome another little life to our family!

Having had two girls before and collectively having SIX nieces we were super anxious to find out if we would be the ones to add the first boy. After much discussion we had decided we weren’t going to find out the gender and keep it a surprise. Although knowing myself I am not sure why I ever thought I could do that, how could I plan everything without knowing the gender? So I decided to find out the gender on my own at a private ultrasound. As soon as I found out I was expecting a boy I couldn’t contain my shock and called my sister instantly. There was a couple hours that afternoon I toyed with the idea of not telling my husband and letting it be a surprise for him but I thought yeah right and told him as soon as he was home. I think it took a couple days for him to believe me since he had no idea I was even getting the ultrasound. Soon enough we were planning the batman theme room.

The rest of my pregnancy went fairly smooth, especially in comparison to my high risk pregnancy with Charlotte. That is until 33 weeks and 6 days when I started having really painful contractions and ended up in preterm labor. But luckily we were able to receive some steroid shots for his lungs and a medication to help stop the contractions. We made it another week and a half longer before he couldn’t wait any longer to make his grand entrance at 35 weeks and 3 days.

Sleeping newborn baby wrapped in a blanket wearing a blue and white hat that says "Timothy".
Brand New

Timothy Edward was born March 31 2019 at 2:43am. He weighed a whopping 6 lbs 10 oz even as a 35 weeker. We chose his names after my brothers Tim and Ed who have passed away.

Ever since day one Timothy was such a special presence in our lives and the perfect puzzle piece to complete our family. He instantly gained the love affection of his two big sisters and everyone else who met him.

Life for our family was hectic with three kids and two under 2 but we were managing and loving all the memories we were making.

When Timothy was about 6 weeks old we were at my parents’ house for dinner and my mom mentioned to me that the way he was moving his eyes seemed off. I brushed it off as a weird baby thing but it got me thinking. The next few days I went into panic mode at home when I would see him do odd eye movements. I spent hours upon hours staring at him trying to get him to stare back and he never would. A fleeting thought of “what if he is blind?” crossed my mind but after some googling and talking to my husband we concluded that at 6 weeks old it’s too soon to say whether or not a baby should be focusing on you so we left it.

About a month later I took him to the doctor for a general check up and that is when everything changed. The doctor instantly noticed his eye movements and asked me if I wanted him to call me an ambulance. I was confused, scared, and alone at the doctor’s office with all three kids. I asked him if there was something serious going on and he just said that he will write me a note to take into the Children’s Hospital that day once I had a chance to arrange childcare.

I took him in and we were taken to the back almost immediately. They told me they were concerned about seizures and we would need to see a neurologist in the next 48 hours. After a slightly abnormal EEG we were put on seizure medication and referred to an ophthalmologist because they were also concerned about his lack of focus at now 3 months old.

Baby boy 3 months old wearing a yellow and white striped outfit. He is sucking on a blue soother. There are wires taped to his head with white bandage wrapped around them.
Timothy getting his EEG

The days between appointments felt like weeks and the weeks waiting for more tests felt like months. Finally after a second EEG and an MRI we were told they no longer believed it was seizure activity and that his eye movements were likely solely related to his eyesight. We were taken off the seizure medication and now we just had to wait to find out what was going on.

When we finally (a couple weeks later) saw the ophthalmologist it only took him 10 seconds of looking into Timothy’s eyes to tell us there was definitely a retinal issue and that we would need to go for further testing with a specialist 3 hours away. He told me Timothy wasn’t focusing on anything, tracking, or reacting to light as he should. He also said he couldn’t diagnose for sure but Timothy likely had something called Leber Congential Amaurosis or LCA.

We waited three months to see the specialist and receive the testing that confirmed the diagnosis of LCA but I had known it was true from the first mention of it. We won’t know for sure what Timothy has for vision until he can tell us but due to his lack of response it is expected that he has no usable vision and little to no light perception.

Right now we are still awaiting the results of the genetic testing to tell us which gene is affecting Timothy and get any information we can from that. But overall we know that there is not much available for treatment of genetic retinal conditions and currently there is no available treatments for LCA in Canada.

7 month old baby boy smiling with his hand in his mouth.
So sweet.

In these few months of knowing Timothy is blind our world has shifted and changed completely. We decided to dive right into learning everything we can in order to help Timothy grow up safe, strong, supported, and independent. Timothy is the sweetest baby with the biggest smile and the loudest giggles. He has brightened up our entire life with his presence and shown us a love deeper than we knew before. His story may have some twists and turns in it but we wouldn’t have it any other way.