About Calum
Calum will be 18 at the end of this year. When I look back over the years and all the milestones he failed to reach when he should have, I wish I could tell my younger self not to worry so much.
When Calum was finally diagnosed with CHAMP1 gene mutation at the age of 7 we thought we had all the answers to our questions. As the condition was so new and ultra rare the doctors had no answers, we only had more questions. We then found a group of other families with children who were so similar to our boy. The reassurance you can get from speaking to other people in the same situation is priceless. I’ve been part of watching history being made with CHAMP1. I’ve been so honoured to welcome most of the new families into our Facebook community. Our community have shared lived experiences that can help out new families that have the questions we had at the start of our journey.
There are a few important things to know when you first meet Calum.
The first is that he has one of the most infectious laughs in the world. Anyone who is lucky enough to be part of Calum’s life will tell you this. When he laughs, whoever he is with will be laughing right there with him! He is such a funny guy.
The second is that he can understand absolutely everything you say. Just because he hasn’t been able to speak the way we do, doesn’t mean he should ever be underestimated. He has been producing new sounds even now. His understanding of how his AAC app works on his iPad blows us away. I often compare the frustration of how he must feel when people don’t understand what he is trying to communicate to us going to a foreign country and not speaking their language.
For any newly diagnosed family I often reassure them that we fully appreciate that their lives have just been turned upside down. It’s not the end of your journey, it’s just the start of a brand new one. Together we are the CHAMP Family, together we will support one another. We’ve got this!!
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As a newlywed in 2006 my life was about to change in ways I could never even begin to imagine. I married my childhood sweetheart in October 2005, and we soon were delighted to find out I was pregnant in March 2006. Little did we know that those two blue lines were the start of an unimaginable journey.
Nine months later (39 weeks to be exact) a little baby boy came into the world. He was trouble from the start! He was breech, so he made his grand entrance by c-section, or as I like to prefer via “the sunroof” at 12:13pm to the dulcet tones of Neil Diamond’s “Sweet Caroline.” That’s what was playing in the operating theatre — not my choice, I’d just like to add!
Fast forward during the baby brain fog of the next few months, which included lots and lots of projectile vomit (this was reflux, but we didn’t know), lots and lots of sleepless nights (this is still an issue 15 years later?), but he was so stinking cute, so all was forgiven. We get to the six month mark when milestones should be starting. Now if I wasn’t a first time mama, I would’ve been banging on the doctor’s door demanding answers. Not sure if it was down to being a first time mum or I was just so tired and covered in puke and unaware of what day it was that I just rolled with the situation at hand.
We were referred to a pediatrician — not going to lie I had no idea what this even was or what a milestone was, I just knew my baby wasn’t doing the same things as others his age. I heard a lot of “oh he’s a boy, boys are lazy.” I’m winging it here, how on earth should I know! All I know is when his baby cousins were all sitting up on their own and making different sounds my “lazy boy” needed to be propped up to stay up and could squeal so loud all the cats in the neighborhood would run away.
I’m not going to bore you with all the details of the many, many appointments we had. Let’s just say there were lots and each and every one of them left me with more questions than answers. Why couldn’t they tell me why my baby wasn’t doing the things the others his age could? We had the genetic tests that were available at that time. These all came back negative. We then get told it’s global developmental delay — “we just have to watch him and see how he develops.” My world fell apart. This wasn’t an answer; why couldn’t the professionals tell me what was going on?
We saw lots of different therapists from then on. Finally, after three years of shuffling about on his bottom we put Calum into the crawl position and off he went! In the same physical therapy session he went from crawling, to pulling himself to stand and then cruised around the furniture. From then on we have never referred to anything as a global delay, we simply tell people he will do it in “Calum Time.” And that term has been how he’s done every milestone in his life. It has been when he was ready and able to do it. Looking back I worried about things that he can now do. I wish I could tell my younger self not to worry so much. He might do things differently to others, but he’ll certainly get there. Who wants to be like everyone else anyway? Why blend in when you were born to stand out!
Calum finally received a diagnosis when he was 7 years old. It was a newly discovered genetic mutation “De novo mutation of CHAMP1 gene 13q34.” This was discovered through a genetic study we were lucky enough to take part in. If we didn’t do this, I don’t know where we would be right now. He is the only person in Scotland with the diagnosis and to date there are just over 100 cases in the world.
The most recurrent symptoms of CHAMP1 include global developmental delay/intellectual disability and severe speech delay/loss. Calum uses an iPad to communicate. I always say for someone who can’t talk like you and I, he is by far the loudest person you’ll ever meet!
I am so grateful to say that we have connected with most of the known CHAMP1 families through our Facebook group. We went from feeling alone, to having support from strangers who have become friends. In the children with complex needs world that we have become a part of you meet people who “get it.” However, with the diagnosis so rare you can share things with other CHAMP families, and I can’t even begin to describe how amazing this is.
I only wish we received the diagnosis when Calum was younger and connected with families sooner. We had seven very long years of being undiagnosed. We now have a virtual handbook for all new families who don’t have to go through the heartbreak of the unknowns like families like ours did. Many CHAMP families were in the same situation we were. I always tell new families the same thing. I completely understand that your world has been turned upside down right now, however, I only wish I had our support group when Calum was a baby. We wouldn’t have had so much worry and unanswered questions.
As our community is so small, it is down to the parents to push for research. A mum and dad who I’m proud to call my friends set up the CHAMP1 Research Foundation following their sons diagnosis. We do all we can to raise awareness of our rare community. We are hoping for some answers as to why the gene change has created the difficulties our children face and if there are any potential treatments out there that could help them. Our kids are writing history. They are the first group of many future generations of people who will be diagnosed with CHAMP1 gene mutation. There will be many people who have not been diagnosed. There will be CHAMP adults who will not be genetically tested due to their age.
My hope for the future is that we find out all we can on the gene. Research continues and if we are unable to help our kids, we can help future generations.
Our kids may have a fault in their CHAMP1 gene, however, they are now known as CHAMP1ONS. They face daily battles and they tackle them head on. We are so proud that we raise a CHAMP1ON.
