Giving 'Rare' Kids a Future this Giving Tuesday

Today is Giving Tuesday and I feel as though I'd be doing my kid a disservice if I don't say the following:

Let’s start with something I think we can all agree with: children should be given every opportunity to have full and healthy childhoods. I think we can also agree that suffering, and living in fear is brutally difficult, especially for children, and is something we'd all like to prevent if it is avoidable.

So why am I starting by establishing this consensus? I am hoping that if we start from that place of common understanding we might be able to accomplish big things on this Giving Tuesday.

By now you may know that my younger son battles Nemaline Myopathy. This incurable congenital neuromuscular condition ("NMC") limits use of all of Ethan’s muscles. I’ve come to learn that I take many of my muscles for granted (in particular my intercostal muscles and the muscles that make my mouth and tongue move). Since his muscles are so low in tone, Ethan cannot bear his own weight (which means he cannot stand, walk or move on his own). He cannot swallow (which means he cannot eat food by mouth) . He can’t easily close his mouth (which means he struggles to talk). He cannot take deep breaths (which means he relies on a ventilator to do that for him).

And yet, despite all of this - he’s an ordinary and engaged two and a half year old. His brain is in NO WAY affected by his NMC. Ostensibly, he’s a super super bright, curious, and naughty kid stuck in a body that his brain knows how to, but can’t control.

Ethan has a cold at the moment. That means he is currently admitted to the The Hospital for Sick Children in Toronto - his 29th admission in less than 30 months. But why is he in the hospital- it’s just a cold, right? Not when you can’t cough, it isn’t. His lungs are so obstructed with the stuff we can all easily cough up that he nearly went into respiratory failure on Monday.

On my drive home from the hospital last night I realized a few things:

1. We’ve all had a sick loved one. For many of us the person was diagnosed, treated, maybe battled, and thankfully recovered. For many of us, illness may have resulted in loss. I want to address the smaller group of us that have a sick loved one that cannot, will not recover. You can imagine the toll that takes on the individual and on those that love them. It has certainly taken a toll on me. But it doesn't have to be that way - that's what this Giving Tuesday is about for me.

2. There are some causes that affect us all and generally speaking people connect with causes that directly affect them. When I really think about NM and rare genetic disorder, I realize that Ethan's cause is rare (ultra rare if we want to be exact). Unless more people can relate to Ethan's cause, he and those that face his rare set of challenges are looking at a deeply challenging future - if they even live to see one. Which leads me to my next realization:

3. Perhaps to protect my own mental health I downplay the severity of Ethan’s condition when I describe it to others. “He’s just in the hospital with a cold”, I say. But he isn’t - he is actually often near death which seems impossible to understand if you don’t have a kid with a NMC or other complex medical needs. How can a cold place you near death?! A logical and totally reasonable reaction from a parent with healthy kids. But this is what it actually looks like. Gasping for air. Oxygen saturations plummeting unexpectedly, Rising CO2 levels, needing to have sometimes a perfect stranger place a 15” long catheter down your nose into your lungs to remove hard mucus deposits that are blocking your airway until your insides are so raw that they bleed (and needing this as often as every 2-5 minutes 24 hours a day). This is the reality of life with a neuromuscular condition. As vulnerable as it may make me, I think this is worth sharing - I don't know how else to get across the underlying need for treatment for these kids.

4. I don’t think I’ve ever used the word suffering when I describe my kid. It's not the outlook I want Ethan to have and its an outlook I can have if I want Ethan to see beyond it. However, as you can see, with this condition and many others that cause low tone, there is suffering (something that we all agreed at the beginning of this post that children shouldn’t have to face if it can be avoided).

5. Downplaying his condition is interfering with my efforts to raise funds in support of research that aims to treat and ideally cure Nemaline Myopathy and possibly hundreds of other genetic disorders that have never before been treatable.

When I reconsidered these realizations this morning, I wondered why Ethan’s cause, Funding research aiming to treat or cure Nemaline Myopathy being conducted at the Hospital for Sick Children in Toronto is any different. As a mom of a kid with an NMC I know I am biased towards the cause, but i invite you to think about this in comparison to rare cancers that, with the help of supporters and donors, are now treatable with medicines once thought impossible.

So what if that person who is facing lifelong illness and struggle could recover? What if their suffering could cease and they could plan for a future rather than fearing their death? And what if YOU could be in part responsible for that recovery? Would you want to help?

IF SO, YOU CAN. Ethan's neuromuscular doctor, Dr. James Dowling, is on the cusp of several genetic therapies that are expected to effectively treat if not cure Nemaline Myopathy. The science is also expected to apply to hundreds of other genetic conditions.

The research is there.

The science is in progress.

The only thing holding up his work is funding.

That’s what I’m asking for. I am asking for you to participate in curing and treating Ethan and the kids that Ethan is currently admitted with at the hospital for sick children, many of whom live with incurable lifelong genetic conditions that threaten their life every time they get the sniffles.

I know everyone says "no amount is too small". But in reality - it's true. If every person I am connected to on LinkedIn donated $5 we would add $6,415 to our efforts. If everyone donated $20 (and got a 2023 tax receipt from SickKids Foundation) we'd raise $25,660. If the same equation applied at $20 to all my friends, family, professional contacts and beyond, we could probably raise $50,000 today alone.

I hope you’ll join me in removing rare as a reason not to give, and to making real, fast, and tangible change to the lives of thousands of kids in Toronto alone. Give to these kids because kids deserve a healthy childhood and because they deserve to live to adulthood and contribute to society which is all any child really wants (and all every parent wants). I think we can all relate to that.

Thanks for reading.

Click here to donate: https://fundraise.sickkidsfoundation.com/tobacooper