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Ben

It’s pretty easy to look at a picture of our family and think “wow a stereotypical family” Two kids, a mom who works as a nurse and a Dad who works as a heavy duty mechanic and farms. Heck we even have a dog. The picture perfect family of four.


Most people would never guess anything was different with our son Ben. He is small for his age so he easily can come off as a toddler and people don’t usually question anything further, until the odd person asks “oh how old he is he’s so cute?”. When I answer 6, I can see the look in their eyes. I know what they are thinking.


Ben is many things. He’s funny, smart, helpful, full of energy, he has the worlds greatest laugh and smile, he’s the best little brother and he’s a lover of all things water and squishies. Ben, also happens to have a genetic disability called “Fragile X Syndrome”. If you are anything like myself and my family you are thinking “Fragile what?”.


Ben was born January 29, 2017 at 41 weeks and 3 days. This is important because his big brother was 2 weeks early and I was not impressed Ben made us wait. When I think back to this, I should’ve known this was a sign of what was to come. That Ben would do things on his own time, in his own way, and this was just the beginning. He was a healthy normal delivery for the most part. I was so prepared for his birth, I had a doula and had educated and prepared myself for a Vaginal birth after Caesarian ( VBAC). For the most part everything went well. I was successful in our birth plan, however Ben had some slight issues after birth, that had nothing to do with his delivery.


There was meconium present, and they thought Ben had a seizure. Next thing I knew we were on a plane 2 hours after birth to Saskatoon. I remember those 5 days like it was yesterday. The emotions, the hormones, how exhausted I was. While we were only in the Nicu a short time and compared to so many other stories, it almost feels silly to even share or talk about since Ben’s issues weren’t life threatening at the time. We knew wed be going home, and 5 days later and no more seizures Ben was declared “a healthy normal baby boy” and we were sent home to start the adventure of a family of 4.


When I was pregnant with Ben, my family had learned about a genetic mutation that some of the maternal side of my family carried. It was actually during this time, that my mom, and sister were fairly confident my nephew had the mutation. I remember googling it once, but not thinking too much about it, since I already had a son and he was fine. However, I remember sitting in the NICU one day with Ben and thinking about it, and wondering, but not wanting to say anything out loud for fear it could be related (as of right now we don’t really know).


Ben was around 10 months old when I started to become concerned. He was showing some delays that had me worried. A few health professionals shrugged it off, they said “oh he has time, I wouldn’t worry.” My family doctor took my concerns seriously, and sent a referral to the pediatrician in the city. It could just be his small size that makes it harder for him to do these things. He couldn’t pull himself up, he didn’t crawl, he flapped his arms. Technically he was still within the normal time frame but the later side of it. My mom gut just knew. The Doctor looked at Ben, examined him and said “he’s fine. Some babies don’t crawl.


Not very long after that appointment I knew he was wrong. I remember my mom saying after Christmas that he was reminded her of my nephew (who had already received his Fragile X diagnoses). Ben flapped his arms when he was nervous or excited, bit his fingers, and had low muscle tone. I finally brought everything up with my Doctor and from there a referral to Genetics was made. I did so much research in this time, I joined Facebook groups, i lost so much sleep, I put on weight, I'm not sure if I was trying to be informed, or looking for that small chance I was overthinking. He was fine. Not my kid. Impossible.


Once I met with Genetics it was a waiting game. I remember the day like it was yesterday, that I got the call that informed me that I was a carrier for Fragile X Syndrome. That very moment I knew Ben had it. We still had to do a blood draw on both my kids to confirm but what were the chances I carried this and it was something else causing Bens delays? The odds didn't seem great to me.


The call came a few days before Mothers Day in 2018.


Fragile X, simply put is a mutation on the X chromosome. Everyone carries the gene, however some families have a small mutation on it. It's the most common known genetic cause of intellectual disability. Ben does not make a protein that most people make for normal brain development. I also learned that because I carry this, I risk passing it to any other children. In fact its 50/50 chance seeing as I have two X chromosomes. My oldest son Jake had luckily got my unaffected X, meaning he would be fine, but my dream of a big family, of at least 3 kids was officially shattered. How could I knowingly risk this again? It wouldn't be fair to Jake or Ben. This isn't every families decision, but its something I just couldn't take the chance on. I have grown up with a family member with Autism, and a great aunt with Down Syndrome, I am no stranger to disabilities, I whole heartedly accept that anything is possible with kids. Having kids is a genetic crapshoot (as a friend told me) If it's not Fragile X it could be something else. However, we had no idea what this would mean for his future or ours, or his brother. It seemed selfish almost, and as anyone who is involved in the world of Disabilities, the world is very unfair to anyone who isn't typical. The easiest way to explain Fragile X to people (and mostly because they have some similarities and most people are more familiar with it) is to tell them Fragile X is a lot like Autism. It's a spectrum and every kid is different. In fact some kids get a dual diagnoses of both Fragile X and Autism. Ben walked at 17 months, he said his first word at 2, but then didn't talk again till 4. He is about to turn 7 and is delayed in almost all areas of development. I would put him at more of an age 4 level in most things. He has come so far in the last couple of years. He is officially potty trained now, which was a huge milestone for him. However he doesn't ride a bike, cant write his name, use a pen properly, doesn't read, and is behind his peers significantly. He has great mimicking skills so being around others and his brother I believe has helped him to learn how to do things. He is on year two of Kindergarten, and is doing great. He struggles with waiting, and we have been dealing with behavioural issues like hitting, throwing and refusing to ride the bus. While Ben is healthy in a medical sense, and we don't spend hours in physicians offices and hospitals, we worry daily about his future and quality of life. Those with Fragile X can go on to develop Seizure disorders and I often think of when Ben was a baby if that is somehow related. Will he develop epilepsy as he gets older? We believe in Ben, and we know he can do all the things and we will advocate for him to have the best life possible, we also remain honest. We know the likelihood of him living alone and independently is low. Due to his intellectual disability, he will likely need some form of lifelong care, in some capacity or another. I remember reading a quote that said "the prayer of a special needs parent is that we see our child live a long, happy life and that we as parents, live just one more day". Some days are harder than others. On the good days I almost forget. It's not until I am around another 7 year old that can recite the alphabet, ride a bike, reads a book, can write their name, plays with other kids, that it hits me like a sharp knife. The fear of his future. The anxiety. Wishing I had a crystal ball.


It has not been an easy road. It's affected out family in more than one way. I feel limited on my work, were struggling right now with after school care, and transportation. Jake notices his brother is different, he feels alone a lot, and while he loves Ben, he knows things are different because of his brother. It's added stress to our marriage. You think kids make marriage hard? Add in a child with a Disability and its a whole other ball game.


Many people have asked me before if I wish I knew about Fragile X before kids and I always say no. I say no, because I am not sure I would've made the decision to have kids without medical help, and then I wouldn't have my boys. I wouldn't have Jake, whose heart is so big and curious and full of questions, who loves Hockey and the Oilers and has all sorts of big dreams in relation. I wouldn't have my Benny. That kid lights up my world. He has the biggest full teeth smile, the best belly laughs and I know I am met to be his mom. I have always been incredibly passionate and I remember saying to a family member, " I think this is my purpose. This is my thing. Most people search their whole life for their purpose and I've found mine. To be that little boys mom, nurse, therapist, advocate, teacher, and anything else he may need. To teach the world about Ben.



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