As I sit here anxiously awaiting Timothy’s first day of Playschool tomorrow I know deep down what I’m most anxious about.
Timothy is our last baby. The last “firsts” we will experience with a child of our own. And although there were many times I wished we were “on track” with other kids, I relished the extra time I got with Timothy needing me. I got to carry him a little bit longer and to snuggle him to sleep just those few extra times. I got to drag out the last of our firsts.
Now everything is about to change. I’ve seen it coming the past few months. The leaps and bounds forward Timothy has made. And it’s amazing, truly. But it’s scary too.
Playschool is going to open so many doors for Timothy. The help and services he will receive is what we’ve hoped for these past 2 years. But it also means that he is about to grow into a little boy, the last traces I have of my baby slowly going away.
I know that now comes the growing up, the independence, the need for me a little bit less. I know that now comes the letting go.
Today Timothy turns Three. The number that has given me so many different emotions over the past few months has arrived.
Three feels like a big one for me. It feels scary. Three is the end of babyhood and the beginning of childhood. I mean can you believe Timothy will be attending school in 6 short months?!
He will be leaving the safe and secure bubble of home. I won’t be able to protect him from every stare, every comment, every question. I won’t be able to keep him in the little world I’ve created around him. I wonder all the time what this year will mean for him.
Three seems to make our delays and differences feel more real. At two you are still sort of a baby and that made it easier to accept being behind but at three it feels different. I worry what it will feel like for him to be in a room of his peers, will he know he is different? Have I given him enough love and confidence in himself to not care that he is?
To me, he is the amazing loving little boy I know because of his differences. I wonder if his teachers will see that. If the other parents will see it. If he will make friends that see it.
Everyone has told me how good it will be for the other kids to have Timothy in their classroom to learn about inclusion. And it will be. But I don’t want my son to just be a lesson in inclusion, I want him to be a kid someone likes to sit by, I want him to be a kid someone asks to play with, I want him to just be a kid.
I think too often when people see a kid with a disability they see a “disabled kid” and nothing else. But I don’t want that for Timothy (or anyone). The word disability isn’t a bad word and it should be said but it is only a part of a person it is not their entire identity. Timothy is a kid with a disability. He is Timothy first. He is a kid first. Timothy is a kid who loves to sing, to jump, to swing, to go outside. He is a kid who loves chocolate and who throws temper tantrums when he doesn’t get his way. For the past three years I’ve been able to make sure he could be a kid first and now I have to hope that the rest of his world can do the same.
So three feels like a big one for me. It feels scary. Because three is the beginning of childhood. And I’m not ready to trust the world with my baby just yet.
Three years of loving you, my bright smiley boy. Happy Birthday Teeny Beans.
In the world of parenting a children with disabilities I have always considered myself fairly lucky in regards to our diagnosis. Both in the sense that our diagnosis does not affect the expected lifespan of our son and also in the fact we received a firm diagnosis before Timothy was even 1. I didn’t even realize how lucky that second one was until I started talking with parents who were still awaiting diagnosis at 2 and 3 years old.
LCA seemed like our best case scenario when we went through testing because it wasn’t life threatening. Sure, Timothy’s condition was causing some other developmental delays but that’s to be expected…right? I mean if you can’t see it is pretty scary to let go and take steps on your own, and how can you learn the words for cup or bowl or spoon or fork when they all feel similar to each other. Not to mention the absolute lack in therapies for most of Timothy’s life in the times of Covid.
I’d say I have felt pretty secure in our trajectory and what the future held since getting the results. But maybe I was too comfortable, maybe I was missing something, or there was something I just didn’t want to face. At least that’s what one of my son’s doctors thought.
So when I sat in front of a doctor in April for the first time and was told they would like to run a chromosomal array, well I wasn’t happy to say the least. I thought you don’t know Timothy, you just met him. How could this doctor sit there and question his diagnosis, it made no sense. And as I left that meeting with the words “he doesn’t look like he has a syndrome but we might as well check” ringing in my ears I started to feel a little off balance.
There was no way he didn’t have LCA. I mean we were all genetically tested. That can’t be wrong can it? It wasn’t. So after sending in our full retinal genetic report and finding out nothing came back on the chromosomal array I thought “Ha!” I won this round.
Unfortunately that was only round one. And this doctor was still not comfortable to say that his developmental delay was caused by LCA or at least not entirely. So when we spoke over the summer I was told that yes Timothy does have LCA…but (oh no) that doesn’t mean he can’t also have another condition affecting development.
Another condition? On top of LCA? I wasn’t ready for that. We got our answer a long time ago. We have accepted it (for the most part). Living with LCA is our life now. I’m not ready to go through another diagnosis.
Our next appointment to further discuss the testing and to possibly perform the test was scheduled for October. The reason we had to wait so long was because it is a BIG test and they had to apply for approval to fund it. It’s a test called Whole Exome Sequencing (WES) and it goes through about 20,000 genes, it can tell us a lot of information about Timothy’s genetic make up. So for the 3 months leading up to the appointment I went back and forth in my head about whether or not I felt another test was worth it.
Most of the time I landed on NO. I know my kid. I know him. I’ve watched him struggle and I’ve watched him learn. Yeah maybe he isn’t where we thought he would be, even with the LCA, but he’s making progress…isn’t he?
But as we got closer to the appointment I started to question myself more and more. Is he making progress? His speech has improved for sure but physically has he changed much this year?
I started to think about the disability funding we get and how they wouldn’t pay for therapies because he’s “just blind”. I started to think about the fact he will be in preschool next year and being able to access the appropriate amount of help for him. And I started to think of myself at the beginning of this journey. I started to think of the endless hours I spenttrying to get Timothy to look at me, trying to convince myself it wasn’t what they thought it was.
And so I decided to do the test. Because not doing the test was for me. Because I’m not ready to have another diagnosis thrown at us. Because I’m scared of what could come back. Because I’m comfortable with how things are.
But doing the test is for Timothy. Because if something comes back we can manage it, we can access the appropriate help, we can learn about it and what it means for his future. And then we can begin to accept it.
So here we are 2 years later almost to the day sending blood work to Finland and beginning our wait…again.
Thank you for reading and continuing to support our journey.
Two years ago today I fell in love with the most handsome little boy.
I remember being so afraid during my pregnancy for that first moment, the moment he would enter the world. Not because of the pain of labor or the whole pushing a baby out of my body thing but because he was a boy.
The first grandson in a family full of girls. My son. I just didn’t know how to be a boy mom.
I worried that I wouldn’t bond with him immediately the way that I did with my girls. But when they first placed him on me I felt the power of the mother and son bond you always hear about. He had my heart in an instant and life has never been the same.
Learning about Timothy’s diagnosis and the whirlwind of his first year of life was crazy and I didn’t know anything other than that I loved that little boy with everything in me.
Last night I was thinking about Timothy turning two and I got overwhelmed with emotions (if you watch my Instagram stories I’m sure you gathered that already haha). I just can’t believe that I was chosen to be Timothy’s mom.
I don’t know what I did to be trusted with this amazing task of raising him (I’ve talked more about this in an older blog post). But what I do know is that I don’t take it lightly… hence the emotions.
Part of my emotion was fear. That strong and deep Mama bear fear. A fear that we live in too harsh of a world. A fear that once I have to send my little boy out into that world that it will crush his joyful spirit. A fear that makes me want to just cuddle him close and keep him in our safe little bubble away from the bullies and people who don’t understand him for as long as I possibly can.
Another part of that emotion was worry. In my world fear and worry are not the same thing. If we wanted to interchange worry with anything it would have to be mom guilt. Because the worry is all mine. I worry that I am not doing enough. I worry that I am not supporting him enough to be able to catch up developmentally. I worry that I am not teaching him the right things. I worry that I don’t know how to do this, but really who does?
And of course the most predictable of my emotions? MY BABY IS GROWING UP TOO FAST. Because he is. How did my little Tiny Timmo turn into this blonde toothy smiled sweet toddler? It all goes too quickly. And yeah some days it feels like it doesn’t go quickly enough when you were up all night with a screaming baby, but then you get that cuddle, or that hug, or that overly sloppy kiss and you would do almost anything to stop time for just a few extra minutes in that moment. I have had a lot of those moments with Timothy.
Now at the close of our second year I can honestly say that having Timothy has been the most magical and life altering experience. One that makes this emotional roller coaster a ride I would take over and over again.
Timothy has given me the chance to learn more than I could ever imagine, connect deeper than I knew possible, and appreciate things in a whole new way. His smile lights up my day and I could listen to his laughter for hours on end. He radiates happiness (I guess I really did choose an appropriate blog name).
So today we celebrate that two years ago I fell in love with the most handsome little boy. And I would relive every single second of it if I had the choice.
Happy Birthday Teeny Shark. Mommy loves you more than you’ll ever know.
Thoughts from my First Mother’s Day as a special needs parent.
I never dreamed I would be this mom. You know, the mom with a special needs child. It’s a shocking thing to say out loud but it’s true. No one dreams to be a special needs parent, it just happens.
Before I became a special needs mom…
I may have dreamed I would be the mom chasing my toddler around the house. I never dreamed I would be the mom begging my toddler to attempt to crawl.
I may have dreamed that I would be the soccer mom, or the dance mom. Running between championship games and year end recitals. I never dreamed I would be the mom with 20 doctors and specialists number’s in her cell phone. Running between PT and OT and SLP appointments. Heck if I am being honest I never dreamed I would be the mom who knew what all those letters stood for.
I may have dreamed I would be the mom who surprised her kid with a car on their 16th birthday. I never dreamed I would be the mom whose child would never have the ability to drive.
Now that I am a special needs mom…
I never dreamed I would be the mom begging my toddler to attempt to crawl but then I wouldn’t be the mom who got to clap and cheer for her toddler who found the strength to push into the crawling position.
I never dreamed I would be the mom who has 20 doctors and specialists number’s in her cell phone but then I wouldn’t be the mom who got to advocate for and support her child’s health and well being every single day.
I never dreamed I would be the mom whose child would never have the ability to drive but then I wouldn’t be the mom who got to have those extra car rides and conversations with her child.
So yes I never dreamed I would be this mom but I also never dreamed that I could have so much strength, or that I could give so much of myself, or that I could love someone as much as I do now because I am this mom. The mom with the special needs child I never dreamed of but now couldn’t imagine life without.
This past week the whole world turned upside down.
In a matter of a few days my jam packed March/April schedule was completely cleared and I now had to home school Hailey for the rest of her grade 1 year. Though I know I should be happy to have cleared up my schedule I’m instead struggling with it because as I had said in a previous post these appointments are my new normal.
Personally these dramatic changes made my anxiety scream. I felt my mental load getting heavier. Now I have the responsibility to keep my daughter on track with school from home, and all of Timothy’s therapies are on hold so it is up to me to make sure he doesn’t fall too far behind on development. On top of that is my normal everyday stuff like laundry, dishes, dinner, etc.
Oh yeah and I need to find ways to entertain all three children without being able to go anywhere…
One of the hardest parts for me was realizing we had to cancel Timothy’s first birthday party. This was hard for me on several levels. Firstly, both of the girls got big fun first birthday parties but with Timothy we almost didn’t plan one because sometimes crowds are too overwhelming for him, but after talking with other special needs parents we decided to have one because he is just as special and worthy of celebrating as the girls were. Secondly, we aren’t planning to have any more children and in a sense this party was my goodbye to the baby years. I put a lot of thought into making his party special for him and having to cancel it was a little heartbreaking.
Aside from my disappointment with the party, being a stay at home mom for the past year I have already felt quite isolated as most of my outings are to appointments or have to do with the kids. Now that I have no outings or appointments and to have to stay home entirely is pretty tough. We are lucky that my husband is still working because at least we don’t have financial stress added and he actually has more hours now, but at the same time it can be quite lonely not being around other adults all day.
These are crazy times in the world and it looks like the safety measures in place will be sticking around for at least a couple months.
Luckily I am no stranger to my life changing in a matter of days so I know that I can and will adapt to the situation. Now that the first week has passed and I’ve had some time to process these changes I am going to start focusing on what I can do to feel okay while the whole world is in panic mode. I thought maybe I would share some of what I am doing on here in hopes it can help someone else get through this hard season.
I have found it quite important and essential during all of this to make sure I am taking a break from reading news updates online or even thinking about everything going on. There is a balance between being informed and needlessly obsessing over the news. I limit myself to one or two updates a day. I usually only watch our provincial update but sometimes I will watch the Canadian one as well. As far as the kids go I am keeping them in routine with normal wake up times, nap times, and bedtimes but outside of that we have no set schedule. Hailey is only in grade one so we don’t stress about not doing school work every day and besides there is lots of learning that can take place without a classroom. Our main focus is enjoying the extra sister time the little ones get and keeping things positive. Losing school and all your friends is pretty tough for kids. Hailey came to me this week crying that she missed her before school hot chocolates with Grandpa. She is only six years old and all this sudden change is hard and confusing for her. So like I said we focus on keeping it positive; we get extra time together to learn, to play, to watch movies, to bake, this is a special period of time that most don’t get with their school aged children. For myself I am doing my best to stay connected with friends and family through texting and other virtual means as well as take some self care time in the evening when my husband is home.
These are just some of the things I have started doing to get through this crazy time and I am not perfect at them; I still get negative, I get frustrated with the kids, I get mad at the situation, and I get upset. The world changed so quickly and we are only human so all kinds of emotions are bound to happen. The most important thing is that we will get through this.
Being a mom is tiring; there is no question about that. At any age and stage during infancy to adulthood there is always a reason that being a mom is exhausting: as a newborn it’s the constant waking to feed, as a toddler it’s the constant energy, as a child it’s the constant activities. Past that I can’t really say first hand but I have some ideas. But being a mother comes with more than just lack of sleep and energy, it comes with the type of tired that sleep alone can’t fix.
The main reason that being a mother is so exhausting is because of something called the mental load. I like to think of the mental load like a giant backpack filled with miscellaneous items that are inside my brain. It is a weight that mothers carry every single day, and being a mother to a special needs child adds a significantly longer list of items to the backpack.
This backpack is filled with big and little things, but the weight of each adds up to be quite heavy for one person to carry alone. Especially when just as quickly as something gets taken out of the backpack six more items are placed inside it.
This mental load aspect of parenting is something that usually falls onto the mother (not always) and therefore can cause some strain in the parenting relationship because it is a lot to ask of one person. Men and women are just different and as much as everyone knows that it can be really frustrating to deal with those differences in daily life.
This morning my husband got up and decided he had enough time to make himself some eggs and toast for breakfast before work. So he did that, and he went to work.
This morning I came downstairs to get Hailey ready for school and all of us out the door in time for the school bus. But I saw there was no bread left to make her a sandwich and so I had to go get some from the deep freeze in the garage. On my way over there I noticed James’ boots tracked mud all over the front entry way so when I got back inside I swept. Then when I went to throw out the mud I noticed the garbage never made it out last night and so I changed that. And then I cursed under my breath and got all the kids ready and out the door.
As I sat at the bus stop waiting I sent off a quick snippy text to my husband “Thanks for leaving me no bread to make Hailey’s lunch”. I was furious. Yes I know it’s just bread and at least we did have some in the freezer but I’m tired.
I am tired of being the only one to remember that: Hailey’s lunch needs made, the agenda needs signed, the pediatrician needs called, the physiotherapy needs scheduled, Timothy’s on his last pair of clean pants, Charlotte only has 2 diapers left ,next week’s appointment conflicts with school pick up, did we use the last of the frozen vegetables last night? I better pick some up.
The to-do list that continues for eternity in my head is overwhelming. As I think myself into a spiral I heard my phone. “Sorry babe I didn’t think of it.” That was my husband’s reply and as much as I was still seething, I also wanted to laugh. Unfortunately that was just the truth of the situation, he didn’t think of it. There was no master plan to make my morning more difficult although it felt like it at the time.
Remember how I said the mental load is like a backpack full of miscellaneous items in your brain? Well continuing with that analogy… think of when you go away as a family, even for a night. What does your husband pack? Probably his own bag which consists of a new shirt, underwear, deodorant, and if you’re lucky a toothbrush. What do you pack? What do you pack for the kids? Chances are a lot more than what he packed. As women we tend to want to be prepared for anything, and are generally more organized then men. So if you pack more in your physical backpack than your husband, what makes you think it would work any different mentally?
Now I’m not saying this means that it should all be on you and that he is off the hook. Not at all. But I think the first step of sharing that mental load is for you both to understand how the other sees it and why. And then to try and find a common ground and compromise on what you each can realistically take care of.
For my husband, he doesn’t have a great memory so if I want him to take out the garbage for me, or switch over the dishes while I’m out late at girl guides with the kids, I just need to ask. And for myself even though I know realistically I need to handle all the scheduling of appointments, I just need a listening ear from him to vent to about my stresses with it.
There will always be differences between my husband and I in how we deal with things and that is just a part of joining your life with another person. The way we communicate about it and work together is the most important aspect.
I don’t ever expect to not carry the majority of the mental load simply because of who I am as a person (I like to be organized and I’m a worrier). What I do expect is that my husband is there to hold the backpack for me for awhile when I just can’t carry it anymore or that he is there to help catch it when it starts to slip off.
Thank you for patiently waiting for a new post, the backpack has been a little extra heavy these days <3.
This week is normal; in fact it is so normal that it actually feels abnormal. We don’t have any doctor appointments, therapies, or specialists. I’m not expecting any phone calls for scheduling or testing or updates. It is just a plain old week. And as much as I should enjoy it, it feels wrong, like I must be forgetting something.
Ever since we started this journey with Timothy’s Leber Congenital Amaurosis (LCA) I have gotten accustomed to the busyness of it. There seems to always be something going on whether that be an appointment, or two, a therapy, a new doctor, a follow up phone call. I don’t really remember the last week I had without at least one of the above.
Although this is an unusually quiet week, I can just look at my calendar for the next 6 weeks and realize that this is the calm before the storm of all of the above and then some.
Yet something about the quietness of this week has my anxiety going wild. After shrugging it off as just anticipation for the crazy month and a half that is creeping up on me, I realized it actually isn’t that at all. Instead it is the fact that all the busyness is what feels “normal” to me now.
Having a child with special needs comes with a lot of moving pieces and I have been organizing those pieces into our lives for about 7 months now. In a way it feels like it has become our life. So when we have a chance to sit back and just have a quiet week at home it just doesn’t feel right.
This is a part of special needs parenting that I really struggle with; the right to feel normal in abnormal circumstances.
I think it confuses other people who haven’t been in this situation to think of weekly appointments and a lifelong disability as being “normal” but for us special needs families we need to regain a sense of normality in our life after the initial shock of a disability diagnosis.
I get more comfortable with Timothy’s diagnosis every day. The little details of his nystagmus (jumping eyes) or him not making eye contact with me have become less obvious and I can go for hours in a day without even thinking about him being blind. He is just my Timothy, he interacts with me how he always has, and he interacts with the world as he always has. And to us that is normal.
I get used to running around to all the appointments and in a way I enjoy it. Checking in with Doctors and starting new therapies makes me feel like I am doing something to help Timothy thrive.
Yes there are still days where I am completely overwhelmed by my schedule and how I will make it all work, or completely heartbroken over the dirty look Timothy got at Wal-Mart because he was going cross-eyed (which is actually called Strabismus by the way).
A big part of acceptance and moving forward is finding our new “normal” and being able to enjoy our family fully just the way it is and that is what we are learning to do every day.
So I hope for other special needs families out there, you can also realize that we all deserve to feel normal regardless of if your “normal” is different from others.
The first evening after learning about Timothy’s eyes I came home and thought “why me?” now I know that sounds terrible but it’s not what you think.
I wasn’t thinking why me because I did not want to have a child with a disability, but because I didn’t know if I could be strong enough, brave enough, smart enough, organized enough, just overall good enough to handle everything we were about to have thrown at us.
I had seen parents of children with disabilities and the struggles they had. I didn’t know exactly but I saw how much it took out of them. The paperwork, the appointments, the testing, and the waiting. Watching your kid suffer, be afraid, cry, not understand what is going on, not be like other kids, and be bullied because they are not like other kids.
I got a sudden case of Imposter Syndrome wondering if I was ‘Mom’ enough to handle this. Timothy is my third child so I felt like I kind of had the hang of it all. At least age 0 to 5 but that was with typical children. I had no idea how to handle a child with special needs… and blindness? Well I knew it was a thing but I never had really been around anyone who was blind before.
All I knew about blindness was that Timothy would have to learn and read Braille. You know those little bumps on the washroom signs. So in an effort to rid myself of the Imposter Syndrome, I threw myself into learning Braille and I was pretty good at it too. I memorized the entire alphabet within days.
But Timothy was just 4 months old and having me know the alphabet in Braille was not really going to help the current situation. So I also threw myself into research, on blindness and on his preliminary diagnosis of Leber Congenital Amaurosis (LCA). I read about how we can adjust the house for him, how we can help make him more comfortable in new places, how I can teach him about things through talk and touch. I learned about LCA and read about all the different gene types (we didn’t yet have our diagnosis). I also connected with tons of families. I joined Facebook groups and followed Instagram pages. I learned through others who had blind children who were a bit older than Timothy.
And slowly the Imposter Syndrome started to fade. You know the saying knowledge is power and not only had I been gaining knowledge about blindness and LCA for months, who else was more knowledgeable about Timothy than me?
I would go to countless appointments with different doctors who all have different specialties but they seemed to ask the same questions. Nothing seemed to be going anywhere. I know Timothy and I know what he needs and what he is ready for or not. I know where we need help. So instead of going to these appointments answering the same five questions about his growth and development I now go with my list of questions and the things I think we should be doing for him.
This is when I finally started to answer the question of “Why Me?”
Because I love my children deeply and unconditionally. I will advocate for Timothy in every single situation whether it’s to a Doctor or a family member or a stranger in the mall. I will never stop researching and learning about all the things I can do to make life easier for Timothy. I will never stop educating others on Timothy’s condition. I will do absolutely anything and everything to help Timothy succeed. As I started to really think about it the better question that first night would have been “Why not me?” .
Becoming a Special Needs parent was not something I had planned and at first it was really uncomfortable for me to feel like I had anything to offer the situation but slowly I’ve discovered that I am one of the most important people on Timothy’s team. I am his Mom.
Thank you so much for taking the time to read my blog.
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.
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.
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.
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.