Sunday, September 21, 2014

Mitochondrial Disease... What's That?

Source: Saving Savannah Facebook Page

Mitochondrial disease awareness week is almost over for 2014 and I have been quiet throughout although I've read through every last post on my feed about it, looked at every picture, watched every video, and prayed over every person who has asked for prayers. I have cried over the losses, so many losses, of people who battled this disease and died because of it. Yet still I have been quiet. Not because it doesn't matter to me, but rather because it matters so much that I didn't know how to add my shaky small hurting voice to the choir of voices speaking out. Tonight though I'm digging to find those words because awareness is so key to the fight against mitochondrial disease.

What is Mitochondrial Disease you are probably asking... That's fair, most people have never heard of it even though it is present as frequently in children as cystic fibrosis as well as almost as frequently as all pediatric cancer types combined.

Mitochondria are the batteries of our body. They provide the energy and in people with mitochondrial disease they are not able to adequately turn oxygen and food that is taken into the body into energy. This can cause symptoms in any area at all of the body and is often misdiagnosed as other diseases or syndromes first because of the vast spectrum of symptoms that can present such as developmental delay, liver or kidney disease, poor growth, recurrent infections, lung disease, apnea, migraines, and many many more.

There is no cure for mitochondrial disease. In some babies symptoms are present from birth, some children are older when they start showing symptoms and sometimes it is not triggered until adulthood. Every 30 minutes someone is born who will develop mitochondrial disease by the age of ten. Every.thirty.minutes. Because it is genetic it can effect whole families, sometimes the diagnosis of one person will lead to diagnosis in others where previously symptoms had be undiagnosed or misdiagnosed.

There are parents losing their children, children losing their parents, siblings losing their siblings... Every single day. I didn't know what I didn't know until I became friends with someone who has mito, and knowing that at any time I could lose her to this awful disease is part of the reason my heart is full of hurt when I hear the words mitochondrial disease. Since learning about mito I've made friends with others who are living with mitochondrial disease in themselves or their children and even in the short three years it's been on my radar I've cried over more losses than can ever possibly be fair or reasonable.

Three years ago I'd never even heard of mito, now I love multiple people with it, and we now know that it has become a diagnosis of likely hood within our own house. We are facing the testing for answers that we aren't even sure we want but no answers just means that we can't fight effectively without knowing the name of the opponent.

Please if you are reading this take some time to learn a little bit more about mitochondrial disease. I'll include some links at the end. Please donate if you can to research into finding a cure. Please share and make others aware. Put faces to this disease that is still not well understood by nearly enough medical professionals which hinders the care of those who are living with mito. Please pray if you do, or send positive thoughts and lift up those of us who are at any point in the timeline of prediagnosis through to grief after losing a loved one.

Also please take the time to watch this video put together by Saving Savannah (you can find them on Facebook!). Its not an easy video to watch but it's even less easy to be a family living it.

More Links: (United Mitochondrial Disease Foundation)

Friday, August 8, 2014

She is Going to Change Your World

13 years ago today I sat in a house waiting for some of the most exciting news one can get... the news that a new member of the family has arrived safe and sound. The new family member was my cousin and I waited with some family members at their home while my Aunt and Uncle were at the hospital.

It was a beautiful summer day in Courtice, Ontario and we waited happily filled with anticipation. Finally the call came. It's a girl. She is perfect. Her name is Taylor.

I found myself in a bit of a happy daydreamy fog at this point. One of the family members I was waiting with was my cousin Stephanie, six years my junior and born on my birthday. She was newly 9 the day her sister was born, nearly exactly the same age I was when my sister had been born six years earlier. Like me, she had a brother as well born a few years after her. 

I was overwhelmed with love and excitement and amazement most of all for Stephanie. My younger brother is one of my best friends, and I can't imagine my life without him but there was something special about being old enough to really participate in all of the stages my younger sister went through. To be old enough to take her to do things without our parents. To be old enough to remember her very first days. I knew Steph had all of this to look forward to and more. She was ecstatic. I looked at her and I didn't know how to put all of what I was feeling into words. How do you tell someone all of the amazingness that is having a little sister? I couldn't. Congratulations, I told her, and I meant it with every fibre of my being. Just like my own did for me, she is going to change your world.

Sunday, June 8, 2014

Soccer Close to Home

Today it was threatning rain all day so we stuck close to home but the boys did get to go out for a trip to the park near our house with Daddy.

Soccer and swings. What could be better?

Saturday, June 7, 2014

Good Times in Brooklin

This morning when I woke up I wasn't sure we were going to make it anywhere. We had planned a fun day starting in the morning but I was having a bad morning pain wise and we had to come up with a new plan. It took a few hours before we could make it out of the house to make some fun.

We started at Vipond Park in Brooklin. This park is amazing and I don't know why it has been a couple of years since we'd been. When we got there there was a baseball game in progress on the diamond and we could hear them playing as we enjoyed the playground.

There was lots to do at the park but one of the highlights for me was getting on a swing myself for the first time in forever. The feel of the wind in my hair and the sun on my face was amazing <3

All of the boys successfully scaled the mini rock wall.

They loved the bridge cross over and the two big boys both conquered the monkey bars. Linus was thrilled to be tall enough to reach by himself!

When we had played for a while Malachi started to need a break from the direct sun so we went over to my Dads house. The kids were thrilled to see Grandpa and they got to spend a nice couple of hours playing (one of the kids from the neighborhood even came over to play!). They also got to spend some time with the largest of the critters, Angus and Farley the dogs, and Annie the pig. 

Such a good ending to a day. Needless to say I had three boys asleep as their heads hit the pillow tonight. That's what I call success!

Friday, June 6, 2014

A New Direction

When I started this blog three years ago I really just started as a way to get some of my thoughts down in writing, post some pictures with memories I wanted to remember, and motivate myself to read more. I have done all of those things though I havn't been as regular about it as I would have liked.

The last three years have seen us go through some unbelievable changes as a family. I usually have great big long updates for family and friends when we talk on the phone, especially if it has been a long time since we spoke. I've been asked for regular updates, but it's hard to find the time and energy to call every person as often as I would like when dealing with a house full of people with special needs. I am going to try and change the direction of my blog into a more regular update of what is happening with the kids, with James, and with me. Some of it will be interesting, some will likely be boring, and emotion wise it's apt to be all over the map.

Still for those who would like to be able to keep better tabs on what is going on with us, for our family and friends who we don't get to see nearly as much as we'd like because of time and distance, this blog will hopefully bridge some of the gap. As always James and I can both be reached on Facebook at any time, and phone calls are always appreciated. This blog will also serve as a memory jog for me because lots of times I feel like moments slip away that I wanted to remember and if I don't record them as them happen they are gone in a flash. Also some of our medical journey may be helpful to beyond our immediate network of family and friends as we know that sometimes this road can feel awfully lonely and sometimes it helps to know what is working or not working with other families dealing with medical special needs.

Let me know if there is anything in specific you'd like to see on the blog, any questions or anything that might be helpful to you. Looking forward to sharing more of our journey :)

Friday, February 28, 2014

Its Rare Disease Day

Our family cares about rare. Rare diseases that is. Two of our kiddos have rare disease diagnoses and neither of them have a complete diagnosis yet (meaning there are still things going on with their bodies that we are looking for answers too through testing and the expertise of an excellent medical team).

We are now over five years into this journey since our second son was born appearing totally healthy at birth only to crash into a major health crisis within a few weeks of being born. In that time we've had a roller coaster of ups and downs and we've met many new people along the way. Some of those people are the doctors, nurses, therapists, phlebotomists, radiologists, social workers, respiratory therapists, and receptionists that have helped us navigate through the medical care we've needed for the kids. Some of those people are other parents who are raising kiddos with rare diseases or who have them themselves (or in the case of some families both).

Why the focus on rare? Though all three of my kids have various health issues there is something radically different between a disease, syndrome, or illness that most doctors have seen or at least heard of and one that requires you to luck into a certain type of doctor (that may not be available in all areas) and/or a certain type of uncommon test (that the provider you have may not be able to order). Unfortunately we have had doctors who don't know what is wrong tell us that nothing is wrong even when clearly there is something wrong, and we aren't alone. Sadly its an all to common theme. Or else a misdiagnosis is given... something more common that doesn't quite fit is made to fit depending on the range of expertise of the care provider.

Some rare disease facts from The Global Genes Project

*80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear

*Approximately 50% of the people affected by rare diseases are children

*30% of children with rare disease will not live to see their 5th birthday

*Rare diseases are responsible for 35% of deaths in the first year of life

*The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases

We have gotten very lucky with our boys. When Linus was an infant we didn't think he would make it to his first birthday and now he is five. When I was pregnant with Malachi I was desperate for a baby who would breathe normally and ended up holding another of my infants in my arms as they were turning blue. The road with him has been an ongoing management of crisis points as he has multiple life threatening things going on with him. Yet despite all the challenges he has beaten the odds and will be three and a half next week. 

Our lives wouldn't be the same without our rare disease experiences. I hope for answers and treatments or cures one day for not just my two sweet rare kiddos but for all of the 350 million people worldwide who have a rare disease.

Thursday, January 9, 2014

How Not to Behave in a Parking Lot

To the woman in the black SUV at Costco:

I was really quite confused when you pulled in front of my newly parked vehicle and blocked me in but I let it go. When you rolled your window down and glared at me as I was attempting not to slip on the ice I didn't feel like killing myself to walk over to you but I listened to your sign language asking if I had an accessible parking permit and nodded yes quite politely with a smile even though it was visible on my dash.

You sat and watched me take my child out and into a cart after making sure it was as safe for him as I could while he screamed and fought me. Pretty much the last thing I needed at that moment was for you to roll down your other window as I walked passed you and say

"You can't effing park here just because you have a kid... Even if he is screaming!"

I'll admit I didn't respond right away because you caught me off guard. Before I could respond you apparently thought my shock at your rudeness was lack of understanding and added:

"You can't park there, it's for people like me who have a permit. I've called the cops on you. You have to have a permit to park there."

At which point I found my voice and my righteous indignation and told you "It's displayed on the dash. Thanks for your concern."

In the spectrum between total dependence and fully able bodied my spouse does not always look disabled. At the time you were losing your mind on me he was not responding as he was focusing too hard on not falling and breaking a hip on the ice as he does not have full control or range of movement in his left leg since the stroke. For that matter the kid you were sneering at for yelling about being in a cart is autistic and immunocompromised (part of what took us so long getting him in was making the cart safe for him) and has a chronic lung disease.

I get it. Disabled people don't always look disabled. Which is why I smiled and polite when you asked me your initial question even though I wanted to just get on with my day.

Once you brought yourself to my attention I noticed you were alone in your vehicle and fairly young yourself, probably less than a decade older than myself. I'm sure you've probably encountered people making snap "young must be able bodied" judgments about you and so I don't understand at all why you'd do so to someone else.

No one likes when people park in accessible spots who don't need to. Least of all the disabled persons who actually need them. But c'mon now. Next time a smile and a lot less asshole would be much appreciated.


A woman in a blue van who just wanted to buy some bread and return a game

PS: To the elderly gentleman parked in the accessible spot behind us when we went to leave your smile and chatter to our three year old to calm him down was so much appreciated. He wanted you to come right over and visit with him which is rare for him but we understood fully that you were safer not risking more ice when you were already at your car. Thank you for the kindness. You don't know how much we all needed it.