Monday, November 17, 2014

SMS Awareness Day



Finleigh is a happy, affectionate, and energetic little 7 year old girl who is in Grade 2. She has an amazing memory and can recall the smallest detail of someone she met or something that happened even years before. Sometimes her emotions overwhelm her and she becomes upset, often leading to severe meltdowns. This is typically out of her control and may start or stop for no apparent reason. On the flip side, she has the ability to bring a smile to people's faces with her energy and an enthusiastic hug.

November 17th is World SMS Awareness Day, a day when those of us affected by SMS tell our story. Finleigh was diagnosed with SMS just after she turned 6, when she was in Kindergarten. We'd been searching for the cause of her difficulties since she was born but it took visits with many specialists and several rounds of genetic testing before we found our answer. Finleigh has Smith­Magenis Syndrome, a difficult diagnosis to be sure.

We love Finleigh with all our hearts and we know she touches the lives of many people she meets in a profound way so, on this day, we wanted to share with you her diagnosis because we hope to increase awareness of this syndrome. Many of the doctors and health care professionals we've met over the years have not heard of SMS nor understand the complications that surround it. It is our hope that with awareness will come more research and eventually treatment, since there is no cure. SMS has similarities to many other diagnoses and has been likened to a combination of Down Syndrome and Autism, but it is very different and complex as it affects every system of the body in challenging and unexpected ways. This makes it difficult to treat and interrupts her life significantly. But Finleigh is strong and takes this all in stride.

Please help us spread the word about this rare syndrome. For more information, you can check out www.prisms.org, an excellent resource 

Sunday, November 16, 2014

Low



I know it's the exhaustion talking. I KNOW it is. Tomorrow, I'll feel better again and I'll be okay. But do you know why SMS awareness is so important? Because it's so goddamned hard.

Hard, actually, does not even begin to describe it. It doesn't touch it, really, but that is the word that will have to do. Hard.

Day 6 post op and that pain that my daughter was handling so well has come. And when the pain comes because I've not been on top of her meds or she refuses to take them or she was sleeping when they were due, she is very sure to let me know. And yet, she insists that nothing hurts. We've had some extreme tantrums - some that included her flipping over our futon.

She's 7 and she can flip over a futon.

And she's been waking up multiple times per night. Mostly to cry and pull off her pull-up and then yell some more until she falls asleep out of exhaustion. I am now sitting on my unmade bed because she peed in it this morning and so I washed the sheets but didn't get a chance to put them back on. And now I'm so tired, I think I'll just sleep in the unmade bed.

Who the hell cares, really?

5 days straight of this following the near hell that was those hours in the hospital and I'm pretty much at the end of my rope.

Brian's been working 12 hour shifts since I got home. He got up in the nights with her when he was working days, but he's working nights now, so he can't.

So, that explains why I'm so cranky and tired and frustrated and feeling sorry for myself. But these are exceptional circumstances. They will pass.

Sort of.

Because her meltdowns haven't been that much worse, just a little closer together. And I can't help but think about the fact that I've now missed 2 family occasions in the last month because I can't travel alone with Finleigh. Or leave her with anyone for long. And I feel so very left out. And sad. And my waistline keeps growing and I'm horribly out of shape - too tired and demoralized to do anything about it. So, when I carry my 60 pound daughter up the stairs for the third time that night to put her to bed, I am completely winded... like I just ran 5 km. What have I let happen to myself?

She smeared blood from her bleeding finger on the doors and the walls last night. She would not let me put on a bandaid. She would not let me hold her. She would not stop crying. She just smeared blood on the walls. Small mercy - she avoided the carpet. Hooray. And I won't even talk about the toileting issues we've had with her lately. But my friends, it's been daily and smelly.

She's gotten more violent with the boys. She's hitting them more. Throwing things at their heads. She goes up behind them when they're watching TV and hits them in the head. What kind of life is that for a child? You can't even watch TV without wondering if you'll suddenly be hit.

Or sit at the computer. She slipped out of my hands today and went running at her brother from behind, pushing the chair he was sitting on so that his face almost hit the computer.

She's not been impacted by a lot of the medical issues, but we have behaviour ones in spades. And I, for one, am tired of this life. Really, really tired. And yes, we get help. I am lucky and grateful for the help. But dammit, this life sucks.

And then she looks up at me with her brown eyes and smiles her big smile and runs to me and gives me the biggest hug. A trusting, loving, squeezy hug that melts my heart and makes me feel guilty for hating my life so much. And she tries to help with dishes and cooking, but she makes things so much messier. And she dances to her music. And she talks about all the things she loves. And she trusts me. And shows her love unconditionally. And always apologizes after she throws or hits or yells or melts down. Always.

"I sorry mommy. I so, so sorry. Please forgive me. I no do it again."
"I know, baby, I know..."
"Mommy, I not a baby. I a kid."
"You're right, my big, big kid. I forgive you."

Of course I forgive her. I always forgive her. She can't help it. And that's maybe the worst part. She can't help it and there's absolutely nothing I know that I can do about it. I'm trying, but it's like searching around in the dark. And doctor waiting lists slow things down. And trying new drugs takes time. And whatever else we've tried. Or will try. Or whatever.

And that. That is why we need more awareness. We're not the only rare disorder. We're not the only disorder that has behaviour and physical issues. But we still need be known about, because something's got to give.

Friday, November 14, 2014

Surgery

So... we had an adventure this week. Finleigh had her long awaited surgeries.

Finleigh had her tonsils and adenoids out (to help with her sleep apnea). She also had bilateral strabismus repair (to fix her lazy eyes).

That was Monday. Today is Friday and she's doing ok. 


We were very lucky that everything worked out as it did. We have to travel 4 1/2 hours to go for most of Finleigh's specialist appointments and that's where we had to go for her surgery too. We were warned that there may not be a bed, so that she would not have been able to have her tonsil and adenoid surgery. But there was a bed, much to our relief. The doctors very kindly worked together so that Finleigh would only have to be put under once. Which turned out to be a very, very good thing.

A good thing because it took Finleigh about 8 hours to fully come out of her anaesthesia fuzz. And by fuzz, I mean she spent that many hours throwing herself and everything she could get her hands on around the room. Stripping down naked. Yelling. Screaming. And hitting.

She cracked a chair. Multiple popsicles and jello bowls landed on the floor, uneaten.

And her IV. Ha. She ripped her IV out in recovery. They replaced it and bandaged it up. But within 5 minutes of Finleigh being back in my arms, the IV went flying again - despite the bandage - and it was never replaced.

Somewhere in there, they gave us a private room. 

After the first three hours, she'd worn herself out enough that she fell asleep, but was right back at it when she woke up. Gradually we were able to reason with her and by the time the night nurse came in to do vitals, she was able to carry on a conversation without melting down.

It was a long, long day. A very long day. It's no fun as a mom to watch your child go through that. No fun and emotionally draining.

The take-home: as few surgeries for this child as possible.


But my child, she is strong and is recovering quickly. She's pretty much her normal self. She's been home from school all week. So me? Her mom? I'm tired. 

The ENT found that her nasal passages are super small, that her larynx looks floppy, and he saw evidence of mild reflux, so we will need to do more tests and possibly more work. We were also warned before that to fully correct her eyes, she would likely have to undergo multiple surgeries. The road is not over, but she's healthy and none of this is life threatening. For that, I am grateful.

Sunday, November 2, 2014

SMS Awareness Day


November 17th is SMS awareness day. A day for us impacted by this genetic disorder to try to get the word out. Not that I don't talk about it all the time on here anyways. Because I do.

But, I don't talk about it much to those who actually spend time with Finleigh on a regular basis. So this year, we're going to try to spread the word at Finleigh's school. They all know who she is. They all know that she's different. But I'm not sure they know much about this syndrome that affects an estimated 1 in 15,000 to 25,000 people.

So. I guess. That's about all I have to say about that.


Thursday, October 30, 2014

A little walk

A little walk with a pretty girl and her daddy on a lovely fall day.


A thanksgiving day, in fact.


Feeling thankful for a moment of fun with our little beauty. 


And she, loving her dad like no other. 


Thankful. For the moments we can breathe. And smile. And love.