Charlie's Blog

Welcome to a blog about a boy with a rare heart disease, his mum and dad, and his adventures.

Wednesday, May 13, 2015

Baby, baby

Just a quick update to let you know that Elizabeth continues to grow and be the most wonderful baby ever. There, I said it. I think that every time I tell someone this, I jinx myself and she'll 'turn' on me like a bad bag of salad. She IS so lovely...sleeps, eats (a ton! What a relief/change!) and is really well-tempered. It's great.

Our next echo is June 12th, at which point Sick Kids can assess what our next turn is - adding or switching medications and what her heart is responding to. I don't know what to expect that day - sedated or not, results, etc. - but we are always hopeful for good news.

Charlie is still...adjusting. I've heard it can take a year. Speaking of which, Matt and I have decided to take Elizabeth to Bora Bora for a year. Any takers on our remaining child? Kidding. Kind of.

This comic basically explains our life. Thanks to the illustrator (this was uncredited on the source I found it on):

Sooo...yeah. We love him all the time. We like him...most of the time.

Here are some adorable shots of various family members! Enjoy! Know we are well.

Charlie and Elizabeth hanging out.
Charlie got his 4-year shots. Tough guy!

Elizabeth looking like the future rugby player she is.

Matt, Charlie and Elizabeth having a visit.

Me, drinking champagne (oh, how I've missed you!) and having a Dorito. Stay classy!

 

 

 

 

 

 

Sunday, April 12, 2015

Sometimes bad things happen to good people.

Elizabeth's genetics came back. She has the exact same DCM-positive genetic markers as Charlie. This was a tough blow but ultimately a good thing to know. And it was completely unexpected.
It is pretty interesting that two children who have the same genetic abnormalities could react so very, very differently. Charlie never ate well - Elizabeth can't seem to get enough. Charlie was pale, although smiley - Elizabeth is very pink but serious. Charlie cried a lot - Elizabeth almost never cries (unless she is hungry). They could not be more different. If Elizabeth had been our first child, we never would've suspected something was amiss up to this point, and looking back on Charlie, the heart condition was more obvious from the start.
The genetic-Coles-Notes is this: I carry a mutation on my VCL gene. Mutations on this gene have  been linked to cases of DCM, although my particular mutation hasn't been seen before. Matt carries a mutation on his DSP gene. Mutations on this gene have been linked to both DCM and been seen in the healthy population, which means the scientists aren't sure of the importance of this gene. My VCL mutation is theoretically enough to cause DCM, but my heart is (so far) totally fine. The theory we've been presented with is that it is the combination of these two genes in our kids that gives them DCM. Because each parent has a pair of each gene but only passes on one copy, there was a chance either child could have inherited a healthy copy of the gene (i.e. they get my DSP instead of Matt's; or they get Matt's VCL instead of mine). Apparently, both our kids lost the genetic lottery.
This means that Elizabeth has officially been diagnosed with DCM, which is both immensely frustrating and a relief. At least we aren't in limbo but goddamn, this sucks. We are remembering how sick Charlie was, combined with the fact that he didn't have to have a transplant even though he was that sick. But each child is different, so while Elizabeth is doing better now it doesn't take much to start thinking about whether she'll continue to be different in a good way, or if we will see her eating drop off and go down a different (worse) route than Charlie did. I've always said I don't know how people do it when their kids have had a transplant, and now that is a possibility again.
The one thing I am really glad about is that we didn't have the early genetic testing done. We would've had these results at the beginning of the pregnancy and it would've just contributed to the rest of it being even more stressful. And it wouldn't have changed the outcome of the pregnancy at all, even with all my tough talk. 
We'll just keep living day-to-day, as everyone does. I friend of mind recently wrote in an email that it was unfortunate that DCM has 'stolen that newborn glow' from us again. I decided that while I had been letting that happen, it was going to happen no more. I have really been enjoying Elizabeth and we'll get back on that train once this news sinks in. She's our beautiful girl - crappy heart or not - and we knew that was a risk. We'll help her ride out the consequences and do our best for our little family. 

Charlie snuggles his sister.


Hangin' out with Dad, football-style.