Well I guess it’s officially fall now, we had a really nice summer at home and so many visitors. My Mom was out for most of the summer, my friend Becky came for a lovely weekend visit, Julia is back from Afghanistan and Brett’s Mom and Jim just left from a 10 day visit. The boys got to be little tour guides and took a few nice day trips for walks in the mountains. We also took Foster on his first family overnight trip, not too far just a few hours north to visit some family. Here’s a little photo recap of the summer:
So this picture is one of my favourites, nothing really special about it I just think Foster looks so cute and squishy, which he is. I think we took this picture the night before the Dairy Queen Miracle Treat Day fundraiser. So so many people went out and bought blizzards in honour of our little Foster bear and we were sent many pictures of all the tags filled out for him 🙂 Very special! For anyone that doesn’t know what Miracle Treat Day is, its organized by Dairy Queen and all the proceeds from blizzards purchased on that day are donated to your local childrens hospital. Here’s a few pictures of some of the Dairy Queen tags we were sent.
I think this was the day Clay realized his love for ice cream….it’s a common request now. We actually skipped dinner that night and everyone (including Clay) just had ice cream for dinner.
I don’t have too many pictures from this day in the mountains, this was during Linda and Jims visit, hopefully I can steal some of their pictures once they get settled back in at home. Jim and Clay were playing with one of the birds and Clay thought it was the funniest thing ever, I have a nice giggly video of him laughing at the bird that I’ll post at the end. Here’s a couple cute pictures.
And of course lots of snuggles with Foster…
So it’s not only the end of summer, it’s also the start of our next hospital stay, Thursday Foster’s being admitted for his big surgery. And I ordered the cutest little Tubie Whoobies….okay any non hospital Moms probably have no idea what I’m talking about but for anyone that does know what I’m talking about, how cute are these! I ordered him the hedgehog, football, tough cookie (it’s a chocolate chip cookie with a bite taken out of it and it says tough across it) and a Rudolph for Christmas. Basically, these pads go around the feeding tub plug to absorb any liquid and they’re just cute and festive. I included a picture of what the Gtube (feeding tube) should look like once the surgery is complete and he’s all healed up. You can even get customized awareness ribbons.
Speaking of Epilepsy awareness…our little Foster Bear finally has a diagnosis after 10 months of tests. His prognosis hasn’t changed, which I’ve talked a little bit about but it’s certainly nice to have some answers even in terms of what to expect next. So Foster has a rare and significantly life threatening form of Epilepsy…I know when most people think of Epilepsy they think of all the people they know that either have their epilepsy controlled or grew out of it but very severe and even some fatal forms of epilepsy do exist. Foster’s very specific diagnosis is called SCN8A Epileptic Encephalopathy. It’s very rare but we currently know of about 150 affected families worldwide. I know a lot of people do have Epilepsy and since I don’t want to scare anyone into thinking that their loved ones epilepsy could evolve into this, I’ll say that Foster’s specific form of Epilepsy most commonly starts within the first year of life and often within the first days of life (as was the case with Foster.) There is a wide spectrum with some children developing more typically then others. Or, as in Foster’s case, it can presents very much like a neuro degenerative disease that it is aggressively progressive and the child can lose all of their basic life skills within a very short period of time. There is no treatment currently although some children have had some success with the ketogenic diet and IVIG treatments, both of which Foster has been on for about 7 months. I think both of these have helped Foster slightly, Foster’s seizures have gotten shorter which seems to correlate with the start of the keto diet and the IVIG treatment (which he receives once every 4 weeks) does seem to give him a little bit of relief although its short lived, lasting about a few days only. Aside from the arrest in cognitive and motor development, the most significant symptom is of course the seizures which will continue to progress and as stated above, generally cannot be controlled by any current medications. I think in my last post, Foster was having about 45 seizures per day and he currently can have as many as 140 seizures per day. This progression has been very rapid over the last month. I stated in our last post that his seizure frequency had previously been progressing at about a rate of 10 extra seizures a day/month. Clearly that wasn’t the case this month. The genetics doctor told us that the life expectancy depends greatly on how the child is presenting. We asked our neurologist about where she felt Foster was on the spectrum and she said he is on the severe end and that it would be reasonable to assume he might not make it to age two. So what does that depend on? Well there’s a few things, the many of kids with this diagnosis pass from pneumonia or respiratory complications. The part that’s been more severe with Foster has been the seizure progression. And it sounds like these kids can continue to progress until they are continuously seizing and placed in a medically induced coma. That or have very severe seizures causing respiratory and cardiac arrest. SCN8A kids also have a significantly high risk or SUDEP or sudden death, often in sleep.
I’ve mentioned previously that all of Foster’s genetics tests had so far been normal and that was the case until about two weeks ago. After digging further and going out of the country for specialized tests, it was found that Foster had a mutation to the gene SCN8A and this specific gene is also linked to this form of epileptic encephalopathy. So then the question became whether this was an inherited genetic mutation or if the mutation happened spontaneously in Fosters development (they call this de novo.) I’m not a genetics specialist so you’ll have to excuse my poor explanation but I’ll try to explain it as I understand it. The genetics specialist that we met with explained that we receive two copies of every gene (one from our mother and one from our father) and that all of our genes are either recessive or dominant. If a gene mutation occurs in a recessive gene, that means that the parents can be carriers of that gene mutation without themselves showing any signs or symptoms of it. An example of this would be the blue eye gene. A person that doesn’t have blue eyes can still be the carrier of the recessive blue gene and therefor could have a child with blue eyes. However, if you carry a dominant gene, it would be expected that you would show the signs or symptoms of that gene. So in Foster’s case, his testing shows that the specific gene mutation that he carries is a dominant gene which means it’s not believed that Brett or I are carriers of that gene or that it could be inherited by any of our children. Rather, it was spontaneous in Foster. It’s reasonable to assume this because knowing that it’s a dominant gene, if Brett or I carried that gene mutation we should have serious health problems and most likely severe epilepsy. Either way, our blood was taken last week as well to send off for testing and those results will be the final confirmation on that.
I feel compelled to share all of this here for a couple of reasons, I’ve mentioned before that it’s much easier to explain everything here rather then to have this conversation on repeat with everyone that I talk to. I also feel like all of our friends and family that have been following this have really been on this journey with us. If I look back at some of the first Foster posts, he was only having one or two seizures a day at one point and you’ve all been kind of travelling this road with us and I know you’ve been checking for updates.
And also it’s for epilepsy awareness. Brett and I are constantly complaining to each other about things people say to us like “oh hopefully he’ll grow out of it, you never know.” K, here’s the thing, at one point we longed for those stories of hope, it was all we wanted to hear about. It gave us hope that our dreams for Foster could still come true. But at a certain point, like when specialists are telling you that you have a terminal child, hearing things like that feels dismissive. I either put a wall up and think that the person didn’t listen to anything that I just said, or they’re implying that I should just try to think positively. Which in my mind feels like they think I don’t have the right to feel whatever I’m feeling. I realize that’s likely never the intention and a lot of people really don’t know what to say, a great response is actually much simpler then people realize. “That sucks” is the perfect response, it totally validates what we’re dealing with. The worst is probably when we explain Foster’s epilepsy and then someone says “oh you know, I have a cousin that has that.”….No…you don’t. Epilepsy is probably the broadest diagnosis in the books. All it takes to be given a diagnosis of epilepsy is two unprovoked seizures in a lifetime. Clearly that is not the most likely fatal disease that Foster is suffering from. But as I mentioned before, these severe forms of epilepsy are rare and if anything the epilepsy community as a whole is fighting to make people feel comfortable with the word epilepsy. Most epileptics will go on to lead totally normal lives, they can have successful careers and raise children, they can lead lives that would never indicate to anyone that they have epilepsy. And for this reason, most epileptics want people to think of the word epilepsy as a minor detail. The awareness that’s out there is to encourage people to feel comfortable around epileptics, to know that they most likely wont have a seizure in your presence and that they certainly are not contagious or dying. While I can understand that this is beneficial to the majority of epileptics, it certainly doesn’t benefit those who are severely suffering. But how can I blame people for their instinctual responses when they really aren’t aware of anything different. So even though epilepsy awareness month isn’t until November, it’s important for our personal sanity that the people in our circle do understand the difference. And I guess that’s my job to educate people on the matter.
Okay so now to cheer everybody up (at least it works for me) here’s a video of Clay laughing at a bird.