Diagnosis: Norrie Disease
Cameron was born at 39 weeks 6 days, weighing a healthy 8 pounds 4 ounces, and he was ready to come home hours after his birth.
For the first six weeks, he had his days and nights around the wrong way and would barely open his eyes whilst awake.
One day the light shone through the window directly into Cameron’s eyes, showing what appeared to be yellow dots in his pupils. At six weeks he was still unable to focus on objects and didn’t seem to look at us.
We spent everyday for two weeks taking him to the doctors, talking to health visitors and professionals, expressing our concerns. “It will come,” they said. “You’re just being over protective parents.” That is what we were made to feel like.
By eight weeks Cameron was throwing up his feeds and losing weight. We took him straight to the doctor’s office and also expressed our concerns about his eyes.
I remember the doctor shining a light into his pupils. “He appears to have cataracts.” We were sent home with a referral to Bristol Eye Hospital.
Cataracts? I had never even heard of that before. So, of course, out came “Doctor Google®,” and I was reassured an operation could correct it.
I was still heart broken that my baby was going through this, and I would break down in tears every five minutes.
Just two days had passed, but Cameron’s vomiting wasn’t giving in, and he was finally admitted for gastroenteritis. Whilst being treated for this, we pressed on with our fears about his vision and were seen straight away by an eye consultant.
We stepped outside of the room whilst a nurse put a clamp on my baby’s eyes for the consultant to be able to have a look.
I remember being stood amongst a busy waiting room with people going about their day-to-day lives, whilst my world came to a stand still.
Straight away he was booked in for an MRI scan, where my tiny boy had to go through his first of many GAs.
“It appears to be Norrie disease,” the consultant said. “There is too much scar tissue, and his retinas are completely detached. Not even light perception.”
I remember walking down those hospital stairs ready to collapse, telling my mum over the phone that my son was blind. Who would of guessed a month later she would walk out of my life for good.
I spent every waking minute researching his condition, trying to find out what the future held.
Mental retardation, the internet said. Progressive hearing loss, developmental delays, autism, seizures. The list went on.
Why did this happen to me? What did my son ever do to deserve this disease? My heart was broken, and I didn’t know how to repair it.
I held my precious baby in my arms. I’ve loved him with an unexplainable kind of love and watched him grow and defy the odds.
He reshaped my heart and stitched it back together again piece by piece. I don’t know why this happened to me, but I’ve realized it could happen to anyone. It’s just a part of life. It’s not a curse or a burden. It really was a blessing in disguise.
To watch someone smile from pure emotion is the best feeling in the world. He doesn’t know what a smile looks like. It’s not something he learned to copy. It’s a feeling from deep down inside, spreading across your face, becoming infectious!
I wouldn’t wish some of the hardships he has had to face over the years on any-body. But I have learnt he doesn’t need vision to be successful or happy. And I wish I knew back then what I know now.
That he is going to be OK. Our life isn’t over. It’s only just begun. And what a beautiful journey it’s taken us on.
Cameron Smiles – Update!
Nearly seven years ago, Megan Webber met with Carla and her Cameron. We were delighted to catch back up with her to get an update on her amazing son. Cameron was diagnosed with Norrie’s Disease as an infant and was treated in the UK. Since that time, Cameron has grown considerably. He has faced many challenges but always comes out smiling!
During their conversation, Carla was happy to hear that KTG is building more awareness in the United Kingdom.
Megan and Carla discussed how Cameron’s diagnosis was initially prompted by the yellow spots she had seen in her son’s eyes and how the pediatricians first thought it was nothing. When other symptoms began to appear, Carla and her husband were able to get the attention of the right team who diagnosed him with Norrie’s Disease.
Upon diagnosis, Carla and her husband learned that Cameron had no vision in either eye. The disease meant autism and other motor and sensory issues would likely follow and he may even face hearing loss challenges in his teenage years. Carla and her husband braced themselves for the challenge while embracing their amazing boy. Fast forward to today and now Cameron is ten years old and his family has grown by one with the addition of his second sister now aged 6!
However, he has faced many challenges ranging from earlier than anticipated hearing loss, food sensitivity that led ultimately to the insertion of a feeding tube, and motor challenges that resulted in tendon surgery and the need for a wheelchair for more than short distances.
Undaunted and fearless, Cameron’s parents have moved mountains to provide the myriad of resources needed to support Cameron.
Now they are planning to climb a literal mountain with Cameron on their back!
In order to help raise funds to support continued research related to hearing loss associated with Norrie’s Disease, the family will soon climb Ben Nevis, the highest mountain in the UK.
Thanks to MyFreeloader, a special backpack has been gifted to carry Cameron. Three amazing athletes, a mountain leader, kickboxer and a fitness trainer will be at their sides. The athletes plan not only to hike Ben Nevis up and back again but then continue on cycling the distance back to Bristol over the following three days, all to help build additional support and awareness for the Norrie’s Disease Foundation in the UK. The trek will commence May 27, 2023.
Megan spoke with Carla just after Cameron had completed his first test climb heading halfway up the mountain with a huge smile on his face! While Cameron is nonverbal and they communicate primarily by touch, there was no mistaking his enthusiasm for the hike! Cameron remains the positive smiling boy that first inspired Carla to start the website and blog, Cameron Smiles (Camerons Smiles). It has even inspired her to write a book about raising a deaf and blind child called Cameron’s Smile: Raising a deafblind child. She has become an inspiration to other mothers and has connected personally with many of the more than 40 Norrie’s Disease families in the UK. Megan and Carla marveled at how Zoom has allowed for parents to stay connected in such meaningful ways and how the world, while full of challenges, is also full of so much hope and happy surprises.
Carla remains encouraged and buoyed through the support of her friends on the hike, the donation from MyFreeloader for Cameron’s custom carrier, and the advances with cochlear implants and other ways to slow or stop progressive hearing loss. But more than anything, she is inspired by the ever present smile of her amazing son, Cameron. We can’t wait to hear more about the success of the hike and bike event and hope you’ll help us cheer them on by following the link (100 Strong’s Race Against Silent Darkness) to help support their efforts on behalf of so many.
