Wednesday, December 26, 2012

Useless wonderings

I look at Ollie and wonder how tall he would appear if he could still stand up. I see other two-three year olds and wonder how he would look playing alongside them. Would he be a leader? Happy to follow? Shy? Outgoing? Sweet for sure. He's never been anything but sweet. Gentle hearted and always acutely aware when others were sad, empathetic like his mom.

Would he be musical like Dad? Musically inept like Mom? Would he have played sports one day? T-ball? Soccer? Become a runner? Play football like Grandpa? That one is doubtful, at least with our builds.

What subjects in school would he most enjoy? Would he be good at making friends? Would his hair stay blond? What direction would life take him? So many things to wonder, and they all break my heart in some way.

MLD only gave us a little over 2 years to see our son's beautiful personality through his voice and actions. Then those were stolen away. It's left him trapped in a broken body, unable to communicate or move.

Now it's stealing his beautiful smile. His smile, his absolutely perfect, chubby cheeked grin. It makes me feel sick to know that it will soon be gone too. It takes 26 muscles to smile, muscles that he's losing control of. We can get about one smile a day, and they are unpredictable, if you're not in the room, you'll miss it. If I miss a daily smile I break down into tears. I can't miss them! How many more smiles does he have left to give? I want to see them all!

We wanted to see him smile every day of our lives. We wanted to see him smile as he got on the bus for kindergarten. We wanted to see him smile and blush when we'd tease him about his first girlfriend. We wanted to see his excited smile as he headed to college. But these are smiles we'll never get to see.

Tuesday, December 18, 2012

Pneumonia round 2

Oliver is being treated for pneumonia for a second time. He's had two doses of antibiotics and seems a little better today than he did yesterday. Yesterday was tough. His breathing was so labored, like he was drowning and gasping for air. It was horrible to witness and I'm sure more horrible for him to experience. He needed several doses of morphine to help with the respiratory distress. I am aware that morphine doesn't fix the breathing issues, but Oliver is under Palliative care and the fear in his eyes was more than I needed to convince myself that morphine was the right thing for him. It reduces his perception of breathlessness and allows him to relax and stop hyperventilating. Our number one goal is to keep him comfortable and not afraid.

I never knew I had such knowledgable friends, and so many friends who are nurses to boot! But apparently I do because the Oliver's Team Facebook message box was flooded with tons of support, ideas for treatment and ideas for prevention. Team, you guys are great. Let me put some of your minds to rest, and for those of you without much medical experience here's a bit of a summary.

We're not sure what has caused either of these cases of pneumonia, there are a few suspected culprits and while there are many ways to try and prevent them, prevention isn't always possible. He could have caught a virus from someone and because he can't cough the mucus settled in his lungs causing a pneumonia, or more likely it's an aspiration pneumonia from his formula or his own saliva that he can't swallow. He currently takes a medicine to dry up his extra drool, but he also takes medicines that cause extra drool as a side effect! (Clonazapam) Ugh. We'll take drool over seizures though.

When it comes to his formula and feedings he's always sitting straight up on our laps through out and afterwards. We used to give Oliver bolus feeds, and we still call them breakfast, lunch and dinner, they are actually closer to a continuous feeds now. He's getting 75ml/hour(that's only 2.5 ounces). To finish each "meal" takes over 2 hours, so he's hooked up to the feeding pump for over 7 hours a day. We tried very slow night feedings but despite his bed being at an incline he still suffered acid reflux and woke up throughout the night in pain. We always thought we'd be able to tell if he was aspirating formula because he'd be throwing up, or suffering reflux (which he isn't as far as we can tell) but our nurse told us that people can silently aspirate with no outward signs of it.

Unfortunately pneumonia and other infections are usually how children with MLD lose their battle. Their muscle loses so much tone, their lungs weaken and they can't fight off the pneumonia. There are other treatments that "could" help besides an antibiotic, some pretty invasive, and others not as much. Some of these we are willing to try, others we are very set against. A lot comes down to quality of life issues and putting him through treatments that may have him live longer but suffer more pain. No. We couldn't do that to him. When his little body is tired of fighting this monster disease, we will have to make decisions that no parent should ever have to make. But we will need to make them thinking only of Ollie and not ourselves, because of course no parent ever wants to let their child go.

Sunday, December 16, 2012

Tuesday, December 11, 2012

Ollie did so well at the movie Skyfall on the Friday after Thanksgiving that we decided to go to the movies again and see something he would enjoy even more. The movie was very good, Oliver was even better.

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Monday, December 10, 2012

Non-congenital laryngomalcia

Ollie had a good day breathing wise, he didn't need any morphine or supplemental oxygen. :) We had a lot of smiles today too. That makes us all very happy here.

Unfortunately, like other MLD children, we believe he's losing muscle tone in his airway. This is leading to the labored breathing from either laryngomalcia or pharyngomalacia, or both. Basically the structures in his throat are blocking his airway, it's also called a "floppy airway"

Learn more about laryngomalacia here

Treatment options include surgery to remove the floppy tissue, which wouldn't work in Oliver's case, as he's losing muscle tone everywhere, or a tracheostomy. Any anesthesia for Oliver at this point is dangerous, there is a risk of him not surviving the surgery. Not to mention pain, risk of infection and quality of life issues associated with a trach. At some stage in the disease many MLD kids need CPAP or BiPAP machine to keep the airways open and help them breathe.We'll cross that bridge when we get there, but for now the morphine and repositioning are working. Let's hope for lots more smiles tomorrow.

Tuesday, December 4, 2012

Here is a very clearly written website describing MLD. It goes over the disease process, inheritance, types and symptoms, diagnosis and management. There are over 110 gene mutations linked to MLD, I didn't know that. Some cause the disease to progress faster and more aggressively. We've identified Oliver's gene mutation but are still waiting on the results of our blood work to confirm we carry the same mutation.

Learn more about MLD

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