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.
Thursday, June 27, 2013
Monday, June 10, 2013
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....
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....
Wednesday, June 5, 2013
"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….
"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….
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