We welcome guest blogger Carla Golledge, who shares her story about son Cameron who was born with Norrie disease.
My son Cameron was born with a rare genetic condition called Norrie Disease, caused by mutations in the NDP gene. This causes mainly males to be born blind and later lose their hearing. During my pregnancy I was blissfully unaware of what lay ahead. I remember holding my newborn baby in my arms, overwhelmed with love and joy, only for a few weeks later, those feelings to be ripped away.
It was around month two when our concerns grew about our baby, and what I can only describe as a gut feeling that something was different about him. The image is still etched in my mind, the day the eye doctors examined him. The nurses swaddled him whilst he was surrounded by medical professionals who intrusively investigated his eyes. I stepped outside the room whilst listening to the faint cry of my baby through the walls. The doctor then confirmed our worst fears, but I was numb. Confused. What do I even feel? It wasn't until I had to relay that information to family members, it really hit me.
Naively I thought glasses could help, even surgery - a quick fix. But that hope was quickly torn away once I learnt my child was living in darkness. Taking the hospital stairs, I began to call people with the news. Saying the words out loud was when it hit me, full on in the face with an almighty force. I began to grieve for the child I thought I would have.
There was this unconditional amount of love for my baby, but it was being overpowered by a great sense of sadness, and I didn't know how to shake that. I spent sleepless nights scouring the internet for answers, treatment and hope. But no amount of research could equip me for the journey ahead.
At four months old, Cameron was seen by the geneticist, in hope for more answers. They sent away blood samples from Cameron and me, discussing our family history and the fact we have had no previous exposure to this unknown disease. I just prayed the doctors had made some crazy mistake and this nightmare would end. But four months later, we received results confirming Cameron’s diagnosis and, even worse, that I was in fact a carrier of this gene.
The guilt ate me up, knowing I had caused this. All this pain and heartache we were experiencing was my fault. I soon became angry, why wasn't this picked up sooner? During my pregnancy or soon after birth. So many unanswered questions that we would probably never get to the bottom of. All of these crazy emotions to deal with, yet meanwhile I still had a tiny newborn who just needed his mum.
And then he smiled...
Cameron hit milestones much later than his siblings, but it was his first smile at four months old that helped me see more clearly. It didn't matter how different our lives were going to be, my child was still going to be happy. After all he has never seen a smile but knows exactly how to make one when he is happy.
Having two children already, we made the decision not to have anymore. I struggled knowing that I carried this gene, and I was unsure how I would cope with another pregnancy.
I remember the day Cameron began to lose his hearing, much sooner than expected. I was physically sick with grief. How is it fair my blind child is now losing such another vital sense? But unknown to me it was far more than just grief I was experiencing; I was now suffering from morning sickness. This wasn't meant to happen. We took all the precautions and I was too scared to bring another baby into this world whilst everything was so unknown. Imagine if I gave this baby the gene too? Would they face similar challenges to Cameron? How am I going to provide high levels of care and juggle being a mum of three when I'm already exhausted?
I should have felt happy that a miracle was growing inside me, but instead I was just getting to grips with supporting a child who has a lifelong disability, and I was too scared to think about the impact of another baby.
Rollercoaster of emotions
I rang the geneticist with the news and agreed to have a blood sample taken from my arm to determine the baby’s gender at just nine weeks pregnant. If the results showed I was carrying a boy, there was a 50% chance he too could be born with Norrie Disease. I never felt so alone on a journey that was already so isolating. How could I talk to anyone about such a private and taboo subject?
Two weeks later I received the results of the gender. We were having a girl and it was unlikely she was affected. I burst into tears at the thought. I was so confused how to feel. I would never change Cameron for the world, but I wish he didn't have to face so many challenges. I felt so many mixed emotions, so happy but so guilty at the same time. Genetic testing prepared me for what was to come, but I often look back and feel ashamed of those negative feelings I experienced. If only more people spoke up about going onto having more children after a disabled child. Maybe those feelings of guilt would have eased.
Proud mum of three
I have now been a mum to my eldest for 12 years, Cameron is 8, and my youngest is 4. But all of those feelings are still just as raw. But what I have gained is a new perspective, and hindsight is such a wonderful thing.
I love being a mum of three. I am mentally and physically stronger from the cards we have been dealt with. I am kinder, more caring, passionate, loyal and most of all a good mum to my children. I often think of all the little things that used to go unnoticed but are actually of upmost importance to us now. Everything I thought could be a tragedy, is in fact a blessing.
Of course, there are times when I question why life can be so unfair. But I have realised it is not about changing Cameron and who he is, it's about adapting the world around him and changing other people’s perceptions. I have learnt the best way to do that is by raising awareness and advocating for his needs. All three of my children deserve the very best from life.
I was once ignorant to disability and all that surrounds it. I took a hell of a lot for granted and probably made lots of mistakes along the way. But having a rare disease in our lives has shaped me into the person I am today, and I hope my son can help shape others too.
It is the most beautiful path I will ever walk, I'm just sorry I ever doubted it.
The Norrie Disease Foundation
The Norrie Disease Foundation is a small charity run by volunteers in the UK set up to support families affected by Norrie Disease. This year they are part of the GOSH Charity and Sparks National Funding Call 2021/2022, looking to further research towards finding a treatment for the devastating hearing loss.
Congenica is delighted to be part of a pioneering partnership with GOSH Charity and Genetic Alliance UK to implement a pilot support and guidance scheme for applicants who are applying to this funding call, and willing to develop bespoke Public and Patient Involvement plans that complement their research projects. The objective is to enable the exchange of perspectives between researchers, parent and patient communities, the general public, and, in some cases, industry, with a view to providing tangible benefits to all and accelerating the impact of research for our beneficiaries. See here for more information: https://www.gosh.org/what-we-do/grant-funding/apply-grant-funding/
Support for rare disease patients and their families
Congenica's Patient Advocacy and Engagement team work with people across the world, helping to navigate often confusing and disparate information by providing educational materials that are trustworthy and helpful. Our aim is to ensure patients, clinicians and researchers understand the patient journey from referral, through diagnosis and beyond.
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