What broke me, but made me whole...

Hi again, I know its been a while, but we welcomed a beautiful baby girl into the world in March so its been pretty busy over here... but thats not why i'm here today.

This post is all about my first baby girl ( for obvious reasons, I wont be sharing my kids names )

S came into the world on a cold February morning, 1:20am to be exact, and after 2 hours of pushing boy was she perfect. A full head of hair , olive skin, and the eyes, oh the eyes.

Her dad and I were smitten. We had lots of visitors the first day and couldn't have been happier, and this is where everything changed. That day we decided to do her first bath in the hospital, during this bath S held her breath and then went limp in the nurses arms, without a second thought the nurse whisked her off to the NICU where she spent the next 5 days. Not knowing what to expect, it was a very scary time in our lives. She's so new, so tiny, so delicate. What could be hurting her? After many tests it ended up being a "Lung infection" (later we would learn, thats not what it was at all). After that scare, we had a wonderful 6 months. Everything went smoothly, until it didn't. I was at my sisters house when she fell asleep in her carseat. I wasn't going to stay long so I left her in for a bit, visited for 20 minutes and drove home. When we got home and I took her out and she was soaked in sweat. I thought she over heated in the carseat ( it was August ). When I took her out she was unresponsive. I tried to give her water, again thinking she over heated. I took off her clothes and still nothing. I then called 911...worst 15 minutes ever. When they arrived they whisked her into the ambulance, but couldn't get her to be responsive. They gave her an IO ( Needle into her femur bone ) and gave her meds, she was stable enough to transport so off to the stollery we went. We found out she has a seizure. After that one she went on to have 3 more, her last one being the worst ( She was 18 months old ). This one ended with my sweet baby girl being on life support. Tubes everywhere, something breathing for her, and her lifeless body just laying there. It was gut wrenching, and was the darkest most terrifying day of my life. There we met her amazing Nuro team who put us on the right track to find some answers. She was diagnosed at that point with Epilepsy and was placed on anti seizure medication.

Fast forward to 2 years old. Anything that S had said before the last siezure was gone, her development was at a standstill and she was so far behind her peers. We were sent to a developmental paediatrician where after a few visits Miss. S was diagnosed with Autism.

Now for context I went to school to be an Educational Assistant ( Someone who helps teach Children with special needs, how did I miss this?)

Autism... When she said it it was like the world stopped. Why, I don't know. I think a little shock and a little relief. Shock because how? Why? and Relief because I finally had answers. (remember its been 2.5 years of questions at this point).

So many things went though my head at that moment, mainly because my experience with someone that has Autism was daunting. I just kept thinking, she will never talk, she will never fall in love, never get married, never have a baby, I will never be a grandmother, her life will be so hard etc. At that point I think the doctor could see i was panicking and said the words that forever will stick with me. Words that every single person that has a child with any special need should hear... "You have to grieve the life you thought she would have, and focus on the one you know you can give her." Woah... From that moment on I knew the word Autism would never define her. It would never be a reason why she couldn't do something, why she was held back etc. Instead it would be a gift. It would be a way to show the world that even though you have xyz you can still do anything you set your mind to.

Now has it been challenging, absolutely, but has it been rewarding too... like nothing else in my life. S (and now V) are my greatest accomplishments, my greatest joys, my purpose, my reason. With this gift S has touched the lives of so many people. Her laugh is infectious, her heart bigger then anyones I know, her sense of humour out of this world, and her ability to always see the good in someone, unmatched.

S was in Kindergarten when we finally seen something different.

She started to talk, she came out of her shell, and was this lively full of wonder little girl.

I truly contribute this to the amazing teachers she had. She was in Kinder for 2 years (we held her back) and had the same teacher both times. The difference year over year was out of this world. She was asking questions, trying to form sentences, and interacting with adults. We were shocked. I know without a shadow of a doubt S would not be where she is today without those teachers and EA's. They shaped her, molded her and gave me the tools to continue it at home. I owe so much to those 4 women, and now I am thankful that these women are still such a huge part of her life, and some of my dearest friends.

Fast forward to now, S is able to read and write. She can spell, and do math and talks the ear off us everyday. She has a best friend, and interacts with her peers all the time. She is incredible, and again has a teacher that is out of this world. Who shows so much patients with her, and cares for her like she was her own. We are so blessed.

During her 1st year of kinder we decided to go ahead with genetic testing. At this point we wanted to have a 2nd child and we were wondering if what she had going on (seizure wise) was genetic. After over a year of waiting the results finally came in, but it wasn't what we expected.

Something else... how? why? why us? why her? so many questions, and the biggest being how will this effect our future children?

SPG47 (Hereditary Spastic Paraplegia)

Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders that cause progressive weakness and stiffness in the legs, leading to difficulty walking. Symptoms typically start slowly and worsen over time, eventually requiring assistive devices like walkers or wheelchairs. 

Key features of HSP:

• Progression: Symptoms worsen gradually over time. 

• Lower extremity involvement: The primary feature is weakness and spasticity in the legs. 

• Gait disturbances: Difficulty walking, including tripping or stumbling, is a common symptom. 

• Other potential symptoms: In complicated forms, other symptoms like impaired vision, ataxia, seizures, or intellectual disability may also occur. 

• Inheritance: HSP is caused by genetic mutations. 

• No Cure: While there is no cure for HSP, treatments like physical therapy, medications, and assistive devices can help manage symptoms and improve quality of life. 

This is what we were given.

This is what my baby girl has been living with. This is what we as parents gave her.

I felt sick to my stomach but at the same time hopeful because we finally had all the answers to our millions of questions. We were brought on by some of the most amazing doctors at Harvard University and sent to a support group for parents with children that also have HSP. HSP is RARE!!!! and whats even more rare is the fact that Sophie can walk and talk.

Again, this would not define her. She has HSP, HSP does not have her. We have had many test done, many doctors appointments and though it all S has always been the most amazing girl in the world.

S saved me in more ways then one.

So when I say "It broke me, but make me whole" its because in the thick of it all I was a broken shell of a person, I was loanly, hurt and just not myself.

I think when you have a child that is "different" then your friends kids, they just dont know how to act around you. Its one of the ways you know whos your ride or dies and who was in your life for a good time, not a long time.

During these hard days, we found our tribe, we found God and we are more happy now then we ever have been. So while the diagnoses broke me, S made me stronger and a better version of myself then I have ever been. She made see the bigger picture in life.

There is a 25% chance that baby V has what S has (she has been tested just waiting on the results) but we both know no matter what her sister will show her how to be the best version of herself, because she has shown us both every single day since she has been born how to be the best versions of ourselves.

While there is so much more to her journey then this, and so much more that has happened in her little life this is the jist of it.

Now what do I want you to take away from this?

I want you to look at the world differently. I want you to reach out to the friend that has a child with special needs, i can guarantee they need you. I want you to be kind.

I want you to laugh.

But most importantly I want you to live your life to the absolute fullest. This life and everything in it is not guaranteed, take the trip, eat that chocolate and but that 20th water bottle. Do what makes you happy. S has taught us that life needs to be lived, and we should all be as happy as she is while doing it.

Well thats all for now,

until next time...

Love you more

xoxo

Courtney

S

Her last Seizure

S and V