Guess what, today is Rare Disease Day. I feel a little embarrassed to admit this but I knew about this day in years past and never really gave it much thought. Whether because of social media, clients or just seeing a tid bit on the news here or there, I knew that this day existed, but I never really had to consider what it MEANT. I never really had to think about what it means to celebrate rare diseases. I never truly considered what it means to have a rare disease. I never reflected on the plethora of emotions that people who are impacted by a rare disease face. How they manage in a world that isn't designed for them. I never really understood what it meant, not for the patients or their families. That means something in our house now. Rare Disease Day doesn't just pass on by as it has in years past. This year, for the first time, it's personal.
It had dawned on me recently that everyone has joined us on this journey at different times along the way. Obviously some have been there since the beginning but others perhaps didn't realize anything was going on until more recently. As we have started sharing more openly, lots of people have asked "how did you know something was going on"? I wanted to help provide context for those who maybe just learned about Bennett's health who are curious about "how this all started anyways". So although I had started writing our story a little while ago, I've chosen to share it today, on Rare Disease Day.
Here is our story:
March of 2020 was an especially hard month for our family. I had just undergone a surgery for our second pregnancy loss within 6 months. Mom was home to help me recover as I couldn't lift the kids. Dad hung back in Phoenix as we were sure I wouldn't need her long. Not 24 hours after being discharged home from hospital a state of emergency was declared and the Covid 19 Pandemic became a real cause for concern where we lived. We scrambled trying to get my dad home from Phoenix before the border shut down and within a day or two our day care shut down, all extracurricular activities shut down, normal life changed completely. The boys were almost 3 and 5. Within a week or so from that my husband lost his job. It was "survival mode" at it's finest.
Gary being off work was stressful but it had it's perks. He was able to take over watching the boys and they all really leaned into this gift of time we had been granted. There were no activities to join in so they made their own fun, backyard time, lots of lake time, lego balloon cars and one day between clients I interrupted a volcano science experiment of all things.
In August of 2020, five months after it had all got shook up with Covid 19, we were at the lake trying to enjoy some semblance of normal. We noticed that Bennett had mysteriously started limping. I thought for sure he had jumped off the deck funny or maybe rolled his ankle chasing Nixon in the field.
We kept an eye on it and after a week or so when it wasn't improving we brought him in to see our family doctor. The doctor sent us for an xray to rule out a few simple things (were his legs growing at the same length, did he have legs perthes disease, was there a fracture or something else that looked abnormal?) but when that came back clear he referred us to see a pediatrician. One of the amazing things about working in health care myself is that navigating the system is pretty comfortable for me. When we knew we needed to see a pediatrician, I requested we go see Dr. R, an excellent pediatrician I had worked with at one time. She agreed to see us and within a month or two we were at her office.
While we waited for our appointment with Dr. R, Bennett had started kindergarten. It was a strange time to start school as we weren't allowed to go into the school, we never met his teacher, the kids were masked all day and activities like gym (as well as all extra curricular activities) had come to a screeching halt. For the most part things had gone on alright with the start of school, but strangely, a few times at pick up, Bennett would complain that he was too tired and his legs were too sore to walk home. So a little confused, I would pick up and we would trek the block home, him on my back, me mentally noting that this felt important to share with the doctor at our upcoming appointment. No major alarms had been going off but things seemed off and we wanted to stay on top of this. We had already been taking videos. Videos of him walking with his limp, videos of him struggling with the stairs at home, videos of anything that seemed abnormal. We were ready to present the information and learn what it all had meant.
Appointment day finally arrived, we first did an assessment with a physiotherapist colleague. I remember feeling flabbergasted at that appointment watching how hard some things appeared to be for Bennett. Simple things like walking in a straight line heel to toe, walking backwards, or how we got up from sitting to standing seemed extremely difficult. I felt embarrassed that I hadn't really noticed this was hard for him. But then again, does anyone get their kid to do specific tasks and watch how they perform them. He had already developed so many ways to compensate that it didn't dawn on me he should be able to do things a different way. He was our first, we didn't know any different. Following the physio assessment we went to see Dr. R. She did her own assessment after consulting with physio and with a concerned look shared that she needed to send us to neurology for a work up. I'm not sure how I mustered up the courage to ask but I fearfully whispered with inquiry, "what exactly are you worried we might be seeing here". She told me not to get ahead of myself but her face looked concerned. With some probing and because of our personal relationship I'm sure, she gently shared that there are some muscle diseases that need to be ruled out. I asked "you mean like muscular dystrophy?" she didn't reply but her eyes nodded with concern.
We went home from that appointment with a requisition for bloodwork and a terrible sinking feeling. Gary, the steady one, felt alright at first, waiting to see how I would react. I was filled to the brim with fear, but tried hard to keep a brave face. Within a day or two we had heard from the neuro clinic. "Our appointment wait time is approximately six months right now Chelsea. However, the doctor reviewed the referral for Bennett and he'd like to see him in 3 weeks. Can you make it?" My heart sank even deeper. I know how triaging works and this is NOT what you want to hear as a mother. She went on to explain that the covid protocols were strict and that it would be best to pull him from school to ensure he was healthy for his appointment. If he had any symptoms at all he wouldn't be able to attend. Kindergarten was the least of our concerns at that point so the waiting game began. Bennett came back home, it felt like the early covid days again. G and the boys did their thing, I tried to keep focusing on work.
I will never forget what those three weeks felt like. They were devastating. Every intrusive thought you could imagine came to mind. They were torturous. It felt like we were awaiting our fait.
Eventually time passed and the day of the appointment was upon us. Because of hospital protocols only one of us could attend. I can't begin to imagine how difficult it must have been for Gary, but he didn't put up a fight when I declared that it would be me. Now keep in mind at this point B had been through three assessments, an xray and a blood panel. He knew that something was not okay. I think he had been nervous, in spite of our best efforts to try to protect him from our anxiety.
Him and I marched up to the neurosciences clinic, past kids with different mobility aids and a range of kids who you could see had different support needs. It was scary. Our appointment that day was two hours long and in spite of trying to call Gary into the appointment, the cell service wasn't good enough and so he had to wait at home. Wait to learn what had happened, what was said, what that little limp all meant.
Dr. P, our neurologist, reviewed all of the videos and completed all of his tests. He had Bennett do all kinds of different things. Bennett and him cracked jokes with one another. If you didn't know any better, it would have looked like a fun little trip to the doctor. At the end of his assessment he said to me, "Chelsea, I can see that there is something going on. I don't know what it is and I think it's going to go away on it's own. He is not showing signs of muscle weakness and his neuro exam is normal". I was so confused and it must have shown on my face. "Trust me" he said, "this is a good thing. You don't want an answer from me". He left our case open in case anything changed and shared we could reach out if we noticed anything new but didn't feel the need to follow us and sent me on my way with my healthy kid.
When Bennett and I got to the car, we called G. Over the truck speakerphone I told Bennett, "Go ahead buddy, you tell him". "Dad" he said, "the doctor things I'm totally normal". Bennett couldn't understand the tears his parents broke into, the relief they felt, but he knew it was special, he felt it too. Somewhere between the children's hospital and McKenzie Towne Bennett said, "Mama?". I welcomed the question. "Thank you for doing everything you did and taking me to all those appointments. I know you were trying to keep me safe". Through tear filled eyes we made it home for the biggest family hug you could imagine. Things felt okay in the world again.
Within ten minutes of being home Gary signalled for me to go ahead and check the freezer. I was confused but didn't ask questions. When I opened it, I saw the champagne bottle that we had labelled months before chilling inside, it read "Open when G gets his new job"! I could not believe it. Nine months from the start of it all, three from the limp, here we were, about to embark on a huge new adventure. Gary got the job at Teck and within a few weeks we would be living in Fernie.
It feels hilarious to sum our move up in one or two simple sentences. It was an absolute gong show. It took a long time to get adjusted. But we were pumped and we were together and we were healthy. That was all that mattered. The kids got settled in their routines that winter. We had a fun summer with our nanny Grace that year with only a small hiccup for Bennett during the smoky summer season which landed him in hospital a few nights and with an asthma diagnosis but that felt like small peanuts, we could handle that. By September when school and activities finally started up (and were semi normal since covid had started) we were ready to go!
Bennett started hockey the fall of 2021. It was his first real organized activity since Sportball which was when he was 3. It was exciting. It was obvious that his peers were ahead of him but at first we just assumed it was because he hadn't really had much practice before this. It was clear after the first few months that he was struggling to keep up, but again, we didn't worry too much. I checked in with the teacher, she had no concerns. We just let things be for awhile. After all, he was playing hockey and he was taking ski lessons, and maybe he just wasn't going to be the ultra athletic kid. Plus, in Fernie at least, kids are seriously advanced when it comes to extra curricular. I swear they come out of the womb skiing black diamonds and riding bicycles. So, we assumed it might be a bit of the story too.
By January of 2022 I noticed once morning, it looked like the limp was back. He had still maintained some toe walking in the year since his appointment but we had been assured not to worry about that. But the limp, I didn't like that the limp was back. Lucky for us we had a new family doctor in Fernie that I could take him into. We went in, she did an assessment, same thing happened. She wasn't happy with her neuro exam, thought there could be some weakness and wanted to re-refer to neuro at ACH. The question this time was whether or not they would take us now that we had moved out of province. I wasn't super concerned at this point. It felt like the same old story, how could anything be different this time around. I was glad we were staying on top of it but I didn't have that same pit in my stomach like I did the first time.
Thankfully neuro agreed to see us and by May, Bennett and I were headed up the number 3 practicing new jokes to share with Dr. P.
Writing this now I realize I felt confident that day. I felt cocky even. Even though I had advocated for the appointment because I felt like something wasn't quite right, I was sure we weren't really going to get anywhere with this appointment. How could this appointment end any differently than the appointment we had with him only 18 months earlier.
Well, it did.
By the end of that appointment, him and I did the same walk back to the car. But this time, with the news that we needed to pursue genetic testing, because although he wasn't certain what it was, he was pretty confident it was a type of muscle disease, perhaps muscular dystrophy. Bennett did not have a normal exam that day. Bennett's muscles were now showing weakness. All I could think of was, 18 months ago this guy told me to be happy and that I didn't want an answer from him, now here I am, with a sort of answer. He was right.
I will spare you the month long drama that ensued trying to advocate for testing and the sharing of information inter-provincially but trust me when I say it was exhausting and hellish. It turns out that genetic testing couldn't be done until someone would agree to pay for it and BC & AB don't like to play nice in the sandbox. Finally, after being fed up, I asked Dr. P if there were private testing options. Dr. P sent off a referral and by the end of June, Bennett and I were back up to Calgary to see the most amazing human and doctor on earth, Dr.K.
To say I was confident would be a huge understatement. I had spent the last month in shock and in and out of denial. But I guess you could say I was hopeful. I was so hopeful that when we went to meet Dr. K (the geneticist) he would reassure me that Dr. P was out to lunch and that maybe Bennett had just had a bad day. That appointment the reality of it all really set in.
He agreed with Dr. P. He believed that Bennett had some kind of underlying genetic condition that was causing muscle weakness. He added a few more scary diagnoses to the list to rule out. B got a finger prick, and we left with a requisition for bloodwork for a full exome sequencing genetic panel. I felt crushed.
The blood test itself was absolutely terrible. Bennett cried from the Crowsnest Pass to Fernie about having to do more bloodwork. He was sick of getting poked and proded. I could hardly blame him. It took two attempts, spending my life savings on lego and finally an admission to emerg to get the job done. It was time sensitive and had to get loaded on a truck headed for Vancouver but eventually, with a lot of courage, he got it done.
We expected to have results within four weeks. Four weeks turned into five, turned into six. You've likely never heard of it before but there was a "reagent" shortage (thanks covid) which was required to process the results. It backed everything up. The waiting was absolutely agonizing.
We tried to cope. We hung on. We wept and wept. It was an excruciating summer. G was having a really hard time trying to wrap his head around things so he took some time off. Nobody but immediate family and a few close friends knew, and we were still trying to make sense of things ourselves so we didn't share any of this with anyone. Not that something was happening. Not that Gary was off work. None of it. We just tried to get by on our own. I tried to keep working. We tried to enjoy summer activities with the boys. But it was always there, right below the surface. I wouldn't wish it on anyone.
Finally, the Friday before Thanksgiving, 14 weeks after his tests were complete, we had an appointment with Dr. K to review the results. The night before I told Gary that the worst case scenario from my perspective would be to not know. I couldn't bare the thought of going any longer without knowing what was going on. I wanted to just hear what it was so we could face it.
That Friday, over zoom, Dr. K met with Gary and I. He explained that there are two genes of interest, which he believes could be responsible, but that, as I had been afraid, there is no definitive diagnosis. There are more tests that can be done but at this point it might be a lot to put Bennett through knowing that any disease that had treatment would have already been found.
So after lots more conversation this is where we are. Bennett has an underlying muscle disease. We know that it can be progressive. We don't know what it will look like moving forward. We know that the closest clinical presentation is that of Limb Girdle Muscular Dystrophy (LGMD), which causes muscle weakness in the limb and pelvic girdle (think big muscle groups). We know he does not have any of the known subtypes of LGMD.
We know that he has two genes of interest. That means that, if more clinical data presents itself on those particular genes, he might have a diagnosis. A diagnosis, without doing anything extra. Perhaps a new subtype of LGMD. We know that what he has is rare. We know that while there are a few extra tests that we can do that might give us an official diagnosis, they would be hard on him and at this point don't feel worth it as they would not have any new treatment. We have a follow up plan with neurology and genetics. We have had lung function tests and are waiting for cardiology to establish a baseline and ensure we have a good picture of his health in the event that he does need more testing and to be put under down the road. We know that we have the best of the best on our team, from neuro and genetics to physio and our school team. We know that Bennett is the boss of his body and he is in charge of defining his physical limits. We know that he is the bravest boy and is teaching us daily that it's okay to be different. We know we can do hard things.
Living without an official diagnosis, but the knowledge that there is some kind of muscle disease impacting our sons life, has been the hardest thing we have ever had to navigate as parents. But, I have come to realize that not knowing isn't the worst thing either. I don't hold my breath waiting for what is coming tomorrow, I try to focus on what is happening today and that is a gift.
The interesting thing in our home is that having a "rare disease" is almost the closest thing we have to a diagnosis. We don't know what this disease is called yet. We don't know exactly what it is or what it means for the future. What we do know is; Bennett has a muscle disease. One so rare that we don't know just yet what to call it.
We are all learning how to share this part of our lives with others. Thank you for being here to allow us to share our story. I hope that next year when Rare Disease day comes and goes, that for a moment, you can smile thinking about our bright and beautiful boy Bennett.
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