Monday mornings

Despite the medical issues with the kids, the last few months have been amazing considering they've had no hospitalizations in the last 8 months. Things have been looking up since the kids have started taking CoQ10 everyday before bed along with other medications. It has been especially awesome for Ocean because he is now able to play hockey and thoroughly enjoy it without being tired after 5 mins of exercises.

Our last wellness checkup 10 days ago didn't play out like the last 8 months contrarily. Ocean hasn't gained any weight in the last 6 months and we've started noticing that his food intake has gradually gone down to one or two bites at meal times and complains that he's full. The specialist suggested that we do a gastroscopy to eliminate possible problems in his esophagus and stomach before we move forward with appetite stimulating medications.

And thus, Tuesday he goes in for the procedure. Problem is, Ocean can't fast. So on top of the gastroscopy on Tuesday, he needs to be admitted the day before to receive infusions overnight to make sure he doesn't have hypoglycemia the next day. So Monday it is.

It's not so much of the procedure or the admitting that bothers me (of course it makes me sad that my kids have to go through things like this at such a young age, but it is what it is...), but it's the emotions and flash backs that this will generate. The fear and uncertainties we went through a few years ago when this journey first started. The anxiety, sadness, stress ect... All of this and I have to keep a brave face for my son who is petrified to go through another anesthesia and procedure. That's the hardest part, keeping it together for your child when all I want to do is cry and tell him that I'm scared as well. One day he will understand, but his innocent eyes can't see the fear and anxiety that it brings me. How when they put him under on Tuesday, I will be reminded of his little body writhing and moving in awkward motions when he was 2 and a half the first time he went under for his MRI.  How I will fall asleep to the hums of the machines that night and remember all the times I was woken in the night by an alarm going off on the pumps.

We have come a long way and I will be strong yet again. For him, for me, for my family. When his eyes open on Tuesday afternoon after his anesthesia wears off, I will smile and love him that much more and the sun will rise on Wednesday morning just as it always has. I will cease to worry and that metaphorical brick will be lifted. I will breath again.

Breaking point

So many thing I want to say but don't know where to start...

We have reached our breaking point. So many months of pretending that everything is ok and manageable but in reality, it's not. I find myself daydreaming lately of a time that was perfect and carefree, where we had all the time in the world to appreciate our family and do so many fun things together. A time where the beauty of the day was just that, the sun shinning and joy surrounding our little life. Don't get me wrong, we still enjoy beautiful days but they seem more distant than they used to be.

Our lives have been filled with doctors and specialist appointments (not counting hospital visits for mundane things gone rogue), hubby traveling non stop and me trying to make ends meet. Summer is coming and I long for life to be normal. Hubby keeps saying that what we are going through is "normal" but I don't feel that. I am always waiting for the other shoe to drop and it drops WAY too often for my liking. It also conveniently drops when hubby is away on business leaving me to fend for my own. We have an amazing family and medical support but friends are far and few between. Part of the problem, I am sure, is that we have pushed away a lot of friends in fear of always having nothing positive to say or relate to. And for that I am so sorry.

Friends from school, college, no one really knows the extend of what we live. Why? because at some point, I gave up trying to explain this crazy world we live in. Rare disease? Mito what? Hospital, oh no? The reality is that most people don't know how to respond and that's ok. I think I speak on behalf of everyone in the rare disease community when I say that; we don't need you to respond or say anything really, we just want a listening ear and someone to talk to. Sure there are things we don't like hearing like: "Oh I am so sorry" (I am not! I love my children and this is the life I was given, I am not sorry) "You never know, they may grow out of it" (I get that you are trying to cheer me up, but the reality is that this is not something you "grow" out of) "Wow, you are so strong. How do you do it?" (I am by no means strong. And how do I do it? I don't. I survive and every mother would do the same regardless if you are "strong" or not).

We have pushed away so many people, not by choice but out of pure survival. Friends from school and college, our once "so called" second family (FD), childhood friends. You know who you are... I apologize. I am sorry I wasn't there when your second child was born. I am sorry I didn't even come to visit you in the hospital when your baby was born prematurely. I am sorry I never went to your birthday dinner. I am sorry for not being there when you relapsed into depression again. I am sorry I didn't visit you when I drove down to the town I used to live in. I am sorry I lost touch with you when you moved away. I have missed so much.

I've realized that I can't do this on my own anymore. Pride used to cloud my judgement on outside help. I think pride left out the window and took a hike down to Florida with the rest of the Snowbirds.

Things will eventually slow down (I hope) and life will take on a more "normal" appearance. But for that to happen I have to accept the help I am given even if it means swallowing down my pride. It hurts to know that I, myself alone, cannot provide everything for my kids. I will eventually get over it. It has taken 3 years to finally throw up my white flag and accept it. It doesn't make me any less of a mother or any less of a person. It means that I finally recognize that this life we live is not "normal" and never will be, but damn, let's make it a happy one.

If anyone wants to read up on what Mitochondrial Complex 3 Defiecincy is and help spread awareness please visit:

MitoCanada

MitoAction

Mitochondrial Complex III Deficiency

The ugly stuff....

I haven't blogged in a while and it has been a rather difficult month...

On Sept. 11th we had our long awaited appointment with the genetic counselor regarding the results of the kid's genetic testing. Expectations weren't much but we knew that anything could happen. We expected to find out some interesting genes that could explain Hubby's side of the family and the multitude of heart issues that seemed to be a trend. We also thought that somehow, what the kids were going through, was related to hubby's diabetes and that would of been were it would of ended.

Did we ever hit a brick wall... I think getting hit by a car would of been more productive than dealing with the findings of the genetics tests. That way, modern medicine would of fixed us all up, a few days of recovery in the hospital and off we go with our lives... yeah not so much...

The genetics test came back with a concrete diagnosis. Problem is, there's nothing much that modern medicine can do at this point to help out or prevent.

Here it is: Mitochondrial Complex 3 deficiency with a novel mutation. What? you say? Yeah we know just as much as the general population about it also. Consequently, we found out that I was also affected and ultimatly was the person who passed it to my kids. Not at all your typical recessive inheritance but dominant and I am 100% at fault so to speak.

Here is what we know:
- it's degenerative
- there is no cure
- multiple systems can be affected (such as heart, eyes, muscles, brain ect... Basically everything in the body that utilizes energy)
- we are the only ones with this specific mutation so there's no way to tell what will happen in the future
- The kids seem to be more affected than I am
- the future predicts more unknowns

Not at all what we were prepared for. You that feeling of being alone in the world? Magnify that by 100 and that's what I'm feeling. Being unique is great and all but this royally sucks. The counselor told us that it would take time to accept this and that the next few months will bring lots of testing and doctors appointments (and I thought we were finished with the testing... sigh).

I have always been a very positive person, but I am finding myself very angry and powerless in this situation. As a mother you are expected in your kid's eyes to "fix" them when they get hurt and make things better. How am I supposed to do that now? What if I'm not even myself around to help them go through this, because I am affected also? What do you do with a diagnosis like this?

Virtually every illness out there has a treatment or medication to help you "fix", "cure" or "help". So I'm just going to sit tight and see what happens? because there's nothing I can do? So frustrating....

I refuse to sit by and watch this mutation take a toll on my life and my kid's life. I will make it my mission to see if anything can be done. If not for myself, for my kids at the very least. I'm their mother, I have to "fix" this.

I've always said "You play the cards you've been dealt in life". I don't want to play the game anymore. I want to be the engineer that creates a new card game to life's journey and fabricate new cards.

In the end, I know I am strong and that I will get through this no matter what. It will take time but I plan on making the best out of life for my kids. I want to help others. Be part of advancing genetic breakthroughs and giving anwsers to others like us that receive this kind of diagnosis and don't know what the future holds.

Waiting, we are always waiting

The kids have had an amazing summer :-)

We started administering uncooked cornstarch at bed time to the kids as a method of preventing low blood sugar in the morning and let me tell you that it has been AMAZING!!!!!!

There has not been one episode of low blood sugar since then (except for when Ocean had to go in for an ultrasound and was fasting). We have also noticed that the kids have been going through mild illnesses (cold, cough ect.) like a normal person fighting it off. A few days and it's gone. Far are the days spent in the ER with the kids developing pneumonia, bronchitis or ear infections because of a simple cold. *Knock on wood* If it would only be the same for gastros.... 'Tis the season for it, and that will be something we will need to deal with as it will come. Probably meaning more hospitalizations to come unfortunatly.

The last genetic test for Beta-Ketothiolase deficiency came back negative. We were expecting that. We are pleading our case for the third time to the genetics board to have Exome Sequencing done, and hopefully it will be the last.

As for myself... sigh, with everything that has happened this year, mentally, I haven't been doing so hot. But I am slowly reccovering from that. Taking more time for myself and treating myself to more outings with friends. It's important for any mother I think. We all existed before our children and as much as we live only for our kids now, we deserve a little "me" time :-)

So here's to a positive future!

Newborn screening, yeah right

The kid's specialist called today to inform us that we would be moving forward with yet another specific genetic test, for a condition called Beta-Ketothiolase deficiency. What's frustrating about this test is that I thought the kids were tested for it as part of their newborn screening test in Ontario. The Dr. informed us that, newborn screening tests are not at all that accurate to begin with. A simple drop of blood on a sheet of paper (if some of you remember) is your child's newborn screening test... Not your child's cord blood, or blood tests, a dried drop of blood on a sheet of paper. What do they do with it? They look for "markers", NOT gene mutations. So here's an example: If a kid is born of a healthy mother and is not in immediate crises (ie: low levels of whatever in their blood), the test is said to be negative for that specific illness.

You think you leave the hospital with a healthy baby and you go home, unaware, with a ticking time bomb. We are fortunate to be dealing with a condition that is treatable (we think) and have been pro-active at finding out early that something was not adding up. Imagine finding out that your child has irreversible brain damage because of something you never prevented because you thought everything was normal? To me that sounds a lot like medical negligence... but again, I might be a little upset about the whole thing right now to provide an accurate opinion about it.

From one mother to another, be vigilant about your child's health. If you feel like something is wrong and everybody is telling you it's fine, go with your gut. Don't let your child be a victim of a possible rare illness.

So we wait, another 6 to 8 weeks for the results of this one and we will see.

Moment of truth

"Mid-June" Dr. J.J.M. said. We are creeping towards mid-june 2013, hopefully a turning point in our lives as parents.

We have an amazing team of specialists looking after us, we are very fortunate and lucky to have landed in Dr. J.J.M.'s office that one faithful holiday morning in 2011. When Ocean was hospitalized at the beginning of May this year I asked Dr. J.J.M. if he had any news about the results of SCOT deficiency that we sent off a few weeks earlier. At that moment I knew God had placed this doctor in our path for a reason (as much as I can be mad at God right now, a story for another time...I'm starting to see that things happen for a reason). This is what he told me: "Our organization went down to Massachusetts last week to the genetics lab we deal with. I asked if they had Ocean's results and if they could expedite them and they informed me they would be ready at the earliest Mid-June. Our team is very anxious to get the results. As soon as I know, I will call you on your cell."

What kind of doctor does that? Asks by name of your child's test results? I then got the feeling that Ocean's name was more than just patient #xyz, a lot of people knew our case and are fighting to find out what is going on.

So our life right now is balancing and waiting on Mid-June which is just around the corner....

"Mommy, my tummy hurts"

If there is one suggestion that I can give to my mommy friends, it's this:

"Always trust your mommy instinct, even if you feel a little crazy doing it. You are most often right."

Here is the story of what we have been dealing with...

It has been a very difficult year for our family. We have been in and out of the Montreal Children’s Hospital more times than an average family will visit in a lifetime. But throughout all of it, we stand strong and smile at our children because we now know the meaning of true love.

It all started approximately 1 year and few months ago. Two days after Christmas, my son (oldest) was sent to the children’s hospital with low blood sugar and very high levels of ketones in his body (along with lethargy, vomiting, diarrhea, tummy pain and weakness). Usually this combination doesn’t happen, usually blood sugar is elevated and ketones point to diabetes, if it were only that simple. Not that the diagnosis of diabetes is simple to begin with, considering we know what that is, daddy is type 1 diabetic since early childhood. The confusion only deepened when the most “common” illnesses were ruled out (growth hormone deficiency, brain tumor). Our journey now took a turn into the unknown world of rare metabolic disorders. Our first and second round of genetic testing for certain types of Glycogen Storage Disease came back negative.

All through these tests, my son is still getting these episodes (ketosis and mild acidosis) and now they are more frequent having started with once per month to now once every 14 to 20 days. The need to find out grew more important as our second child, a girl, started to demonstrate the same signs and symptoms. Inevitably she was going through the same things my son had a few months before. A few days following her second birthday, she was hospitalised twice over a period of 7 days for a total of 5 days at the hospital. The second time, in full blown Ketoacidosis (a condition known to diabetics that causes diabetic coma and possible death). So frustrating…. You plan a family, take all of the prenatal vitamins, avoid eating crap, take care of your body in hopes of having beautiful healthy children and you get hit with something like this.

Our case was presented to the Children’s hospital genetics board for approval of a full Genome Mapping (or sequencing) to be done on the kids. This will identify all the genes that are involved in metabolism and will let us know if any of these genes have defects/mutations thus finally bringing us to a diagnosis. The importance of this is crucial. The illness (or whatever you want to call it) that my children are demonstrating may have a great prognosis or a very poor one (ranging from, growing out of it, to, potential death in the short term). It is of utmost important to find out what is going on. We were rejected a few days later and asked to do ONE last test before we pursue the full genome mapping. We are now awaiting the results for a condition called SCOT deficiency, a condition so rare, only 20 something people have been confirmed diagnosed with. If this result is negative, only then will we be able to plead our case again to the genetics’ board.

As a mother, who is supposed to protect your children and care for them, you want to take this away, but I can’t. This will most likely mean an entire lifetime of living with this and multiple obstacles that my kids will need to manage. I feel like I am functioning on zombie mode. Being the pillar in my children’s lives that they need, loving them, caring for them but when all of that is said, I feel numb. Like my world only revolves around this problem and I feel like it should be all about my kids. I feel blessed to be their mother and I don’t know what I would do if anything was to happen to them. They are my world, but I am so emotionally drawn, I don’t know how much more my heart can take.

I just want a diagnosis, I want to know what is going on so we can go on with the rest of our lives as this amazing family and deal with it (program it into our family and move on). I really hate the uncertainty of it all and it makes me nervous every time they are sick, because I can’t help but wonder: “Will they wake up tomorrow morning?” oh God what if they didn’t….