Why Me?

Finding my place as a Special Needs Parent.

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.

Melissa in the hospital NICU right after Timothy was born. She is wearing a hospital gown. Timothy is in an oxygen mask cuddled to her chest.
Brand new baby.

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?

Timothy laying on his black and white playmat. He is chewing on a fabric book and has a musical toy dog beside him. He is 78 months old.
Some of Timothy’s Sensory toys.

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.

Melissa is sitting on the couch cuddling 10 month old Timothy.
Mama and Timothy cuddles.

Thank you so much for taking the time to read my blog.

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.