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After a decade of being together, two chunky Bulldogs, a house in the suburbs and a year of marriage under our belt, we finally felt ready to start our family.
Our beautiful Claire came into the world two weeks early, and we couldn’t have been more excited. She was such an easy baby, and we counted our blessings to have a daughter who slept through the night after four months. Claire was a very independent kid and happy to be wherever we were, whether it was a beach in Florida or a ski lift in Quebec.
Just two years later we welcomed our 10-pound little boy Josef, and we knew our family was complete. Our hands were full with a newborn who never slept and a curious toddler, so we didn’t worry two much that Claire didn’t start to walk until 20 month’s, we thought maybe she was just taking her time. We put her in childcare a few days a week to see if maybe being around kids her age would encourage her. That’s when we also started to notice that maybe she isn’t shy, there might me another reason she isn’t talking much.A visit with our pediatrician resulted in an appointment with a neurologist just to be sure nothing else was going on.
We never made it to that appointment, a few days after Claire’s third birthday she suffered a seizure. There is nothing in this world that can prepare you to see your child become unresponsive and jerking on the ground. I’m so very thankful my close friend was there to tell me what to do and keep us calm as we dialed 911. She kept my son as we head to the hospital, in utter disbelief.
No one in our families have epilepsy, we were scared, she didn’t have a fever, the CT scan came back normal, they sent us home and told us that each kid gets one seizure before it’s a problem. So we went home and waited, not sure what to do. Exactly a week later, another one, and then exactly one more week later, a third one. We knew something wasn’t right, they wanted her on medication, we didn’t understand the side effects, we weren’t prepared for anything that was to come.
For the next 6 months we tried so many medications, and nothing was helping, with the help of our neurologist we were able to bypass the wait times and went to the US for an MRI, we needed answers and weren’t prepared to wait the 8 months to have it done here in Toronto. At one point one medication made her toxic, she stopped talking and walking, and that’s when we pushed for the Hospital for Sick Kids to start seeing her as well, we needed answers and were not prepared to keep testing seizure medications over and over again, putting her tiny body through so much. We knew it was more then just a global delay and generalised seizures, something was happening to our little girl, we pushed for genetic testing. This testing must be individually approved by the government, which is incredibly frustrating, we were booking our appointment to get in done in the states when it finally got approved.
We were looking forward to the results, we wanted to know what was causing the seizures, we could narrow down medications to try, maybe even know if she would eventually grow out of it. When we sat down with our new neurologist, and she told us there was a 50% chance Claire had CLN2, a form of Battens Disease, that to confirm it both Mark and I would need to be tested, we said ok. We had no idea what that meant, so we asked what is Battens?
I remember she got quiet, not sure how to tell us. That moment will be forever engraved in our heart and mind. We were told that our little girl, will eventually, stop walking, stop talking, stop eating, experience dementia and not live to her teens. We wanted to pass out and throw up at the same time, we just held on to the fact that there was a chance she didn’t have this disease. There was no way that our daughter could be one of 12 in Canada, there had to be a mistake.
I’m not sure how we made it through those six very very long weeks. One day we were sure she didn’t and the next we thought she might. We decided to be proactive if she did, researching and finding all the information we could find, which wasn’t much. There was an enzyme replacement therapy Health Canada has approved but wasn’t funding. This treatment is a lifeboat, until a cure can be found. It replaces the enzymes that their body doesn’t make on its own and stops the regression. It doesn’t reverse it, so we knew time was precious and we were going to do everything we could to make this a reality for my daughter, if we needed to. In the meantime, we are spending long days in the emergency room, trying to get any type of control over her daily seizures.
Once the genetic testing came back for both of us, we went down to the hospital, we were hoping for the best and expecting the worst. Feb 13, 2018 will be a date we never forget. Everything is either before or after her diagnoses. I just remember feeling our lives exploding, it felt so surreal, like we were in a bad dream. The drive home we were numb, it just did not feel real.
We had left that appointment knowing there was a 25% chance that Josef could have this disease too, but It never once crossed our minds. Our little boy was amazing us everyday. He was talking and walking not just meeting but overachieving every milestone. We didn’t even rush to send off the testing. We got an email to a few weeks later asking us to come in to discuss Josef’s results, and we knew right then they were positive. There was no need to make an appointment for any other reason.
I cried out, I fell to the floor, the physical pain ripped through me, I couldn’t breathe. This couldn’t be happening to our family, there is no way my baby boy has this. I called Mark, he cried out in pain, I could hear the commotion of his co-workers running to him, he had to be driven home. We held each other in disbelief, our doctors called to confirm that was in fact true. Our 22-month-old son had CLN2.
There are very few families in the world with siblings both diagnosed, especially this young. Having both of our children diagnosed with a terminal disease created a fire inside, we were not going to let the government decide whetherour children were going to receive the life saving treatment that was out there.
It took seven long weeks of fighting with the many municipalities of the government, many days waiting by the phone, waiting for a decision. Conversations with our MPs, even longer calls with the team at the hospital. We shot a short documentary with the Isaac Foundation that got over 40K views in two short weeks, finally those making the decisions could see a face behind a name on those forms. Again, we had to have a plan B in place and started planning for our children to start receiving treatment in the states. We didn’t care that we would sell our house and everything we owned; we knew time was precious. Once this disease takes hold, there is no way to reverse the damages, we could see Claire was talking and walking less, we weren’t going to wait another day.
The hospital finally booked Claire in for brain surgery, they would be inserting the port that would make it possible to receive the enzyme replacement therapy. At this point Claire is having close to 100 drop seizures a day and can barely function, she was unable to take her prescribed seizure meds prior to surgery, due to lowering her platelet count. We weren’t even sure when the Ministry of Health would decide to start paying for the treatment, but we decided we would start paying for them until they did, we weren’t waiting a day longer. Thankfully Sick Kids were behind us 100% they were going to make sure Claire got what she needed now.
It took Claire a couple of weeks to recover from surgery, she went in with a fever, and we decided that it was worth the risk. We needed to have her back on her medication and give her some relief from all the seizures she was experiencing daily. It was very tough seeing her so weak, she didn’t want to eat much, she had no energy and she slept a lot. Fortunately, her port healed quickly, and we were able to book her first treatment within two weeks.
Being in the hospital opened our eyes to what was to come with Josef and we realized that our lives have forever changed and we knew that this is not what we wanted for our children. No matter how grateful we are that there is treatment, this is not the end game and we will make sure that this not our forever.
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