I began my time at the computer
Down Syndrome is a term which can be slightly generic, if you will. The term encompass several different types (although we were originally told there was only one, meaning you either had it or not), each having their own distinct formation, or process by which they were malformed. In classic Down Syndrome, the cell does not split properly giving each cell 47 chromosomes versus the typical 46. This error in cell division occurs prior to or during conception. With Mosaic Down Syndrome, the misdivision of cells takes place after fertilization, at some point during early cell division. Here is the punch line...because of this, people with Mosaic Down Syndrome have two cell lines, one with the normal number of chromosomes, and one with an extra. So, what all does this mean.
As you all know, Harper does not have any of the traditional complications associated with Trisomy 21. No congenital heart disease, no hematologic malignancies such as leukemia, no thyroid disorders, no gastrointestinal disease such as Hirschsprung's disease, no neurological defects, no apnea, etc, etc, etc. As you can see, there is a whole litany of obstacles which not only could occur, in an infant diagnosed with Trisomy 21, but generally do occur, in some facet or another. Harper has been the exception, not the rule. When we encounter a new professional, be they medical or social, and we don't have any complications to check off their list, they are generally taken aback. This, almost naturally, sets off a wave of panic in me as I have the unnerving feeling the doctor's must have missed SOMETHING due to their response. I regain control over my fear and know it is not an emotion God wants us to feel. If you need affirmation of this, He went as far as to reiterate we have no reason to fear 365 times in the Bible. In fact, there is one 'fear not' for each and every day of the year. Don't you just love that message!
Anyway, not only does Harper baffle the great minds of many due to her medical health record, the characteristics or traits she does have of Trisomy 21 are subtle. For example, the simian crease in her left hand isn't a complete single line as it should be. There is a distinct break, although it is more parallel than curved. Her facial features are more diminished and not to mention her controlled muscle tone. As I was reading more about the aspects of Mosaic Down Syndrome, keeping in mind the similarities in Harper, I became instantly intrigued to find out Harper's 'type.' I pulled the envelope of discharge information from her stay in the NICU. Surely, this would have the results of her karyotype analysis. The only information I could locate simply stated 46 XX + T 21. Translated, it means, 46 (# of chromosomes) XX (girl) in addition to T 21 (Trisomy 21/Down Syndrome). I must admit, I did a bit of googling immediately afterwards. If any of my research is conclusive, I believe this may be Harper's complete diagnosis.
Amid all of my research, one of the most intriguing pieces of information I came across stated the possibility of some of the cells being able to regenerate and replace the effected cells. Basically, the affected cells could be replaced with unaffected cells just as bad blood cells could be replaced with good blood cells. AMAZING!
I am utterly skimming the surface of information on Mosaic Down Syndrome and have no concrete evidence this is what Harper may have, but it has me hungry for answers. I will certainly be addressing all of this with her pediatrician at her two month check up this coming Thursday. Of course, even if Harper truly does have MDS, we won't have any way of knowing which chromosomes are effected and which are not. The determination of which chromosomes are effected is purely based on a percentage. The higher the percentage, the greater the risk of health and developmental delays, the lower the percentage, the fewer difficulties the child will experience. Knowing many people are misdiagnosed with Down Syndrome and actually have Mosaic Down Syndrome, I feel it is worth my time and efforts to continue down this trail until it leads me to a dead end or keeps going. So much of what we do in life is trial and error and I am willing to take risks especially if it is for the betterment of my child and others like her. Will it change anything, absolutely not, but it would answer many questions I have and provide peace of mind. I can't think of a more appropriate way to describe Harper than mosaic. She is most certainly one of the greatest works of art and is made up of many different yet colorful pieces :)
Down Syndrome is a term which can be slightly generic, if you will. The term encompass several different types (although we were originally told there was only one, meaning you either had it or not), each having their own distinct formation, or process by which they were malformed. In classic Down Syndrome, the cell does not split properly giving each cell 47 chromosomes versus the typical 46. This error in cell division occurs prior to or during conception. With Mosaic Down Syndrome, the misdivision of cells takes place after fertilization, at some point during early cell division. Here is the punch line...because of this, people with Mosaic Down Syndrome have two cell lines, one with the normal number of chromosomes, and one with an extra. So, what all does this mean.
As you all know, Harper does not have any of the traditional complications associated with Trisomy 21. No congenital heart disease, no hematologic malignancies such as leukemia, no thyroid disorders, no gastrointestinal disease such as Hirschsprung's disease, no neurological defects, no apnea, etc, etc, etc. As you can see, there is a whole litany of obstacles which not only could occur, in an infant diagnosed with Trisomy 21, but generally do occur, in some facet or another. Harper has been the exception, not the rule. When we encounter a new professional, be they medical or social, and we don't have any complications to check off their list, they are generally taken aback. This, almost naturally, sets off a wave of panic in me as I have the unnerving feeling the doctor's must have missed SOMETHING due to their response. I regain control over my fear and know it is not an emotion God wants us to feel. If you need affirmation of this, He went as far as to reiterate we have no reason to fear 365 times in the Bible. In fact, there is one 'fear not' for each and every day of the year. Don't you just love that message!
Anyway, not only does Harper baffle the great minds of many due to her medical health record, the characteristics or traits she does have of Trisomy 21 are subtle. For example, the simian crease in her left hand isn't a complete single line as it should be. There is a distinct break, although it is more parallel than curved. Her facial features are more diminished and not to mention her controlled muscle tone. As I was reading more about the aspects of Mosaic Down Syndrome, keeping in mind the similarities in Harper, I became instantly intrigued to find out Harper's 'type.' I pulled the envelope of discharge information from her stay in the NICU. Surely, this would have the results of her karyotype analysis. The only information I could locate simply stated 46 XX + T 21. Translated, it means, 46 (# of chromosomes) XX (girl) in addition to T 21 (Trisomy 21/Down Syndrome). I must admit, I did a bit of googling immediately afterwards. If any of my research is conclusive, I believe this may be Harper's complete diagnosis.
Amid all of my research, one of the most intriguing pieces of information I came across stated the possibility of some of the cells being able to regenerate and replace the effected cells. Basically, the affected cells could be replaced with unaffected cells just as bad blood cells could be replaced with good blood cells. AMAZING!
I am utterly skimming the surface of information on Mosaic Down Syndrome and have no concrete evidence this is what Harper may have, but it has me hungry for answers. I will certainly be addressing all of this with her pediatrician at her two month check up this coming Thursday. Of course, even if Harper truly does have MDS, we won't have any way of knowing which chromosomes are effected and which are not. The determination of which chromosomes are effected is purely based on a percentage. The higher the percentage, the greater the risk of health and developmental delays, the lower the percentage, the fewer difficulties the child will experience. Knowing many people are misdiagnosed with Down Syndrome and actually have Mosaic Down Syndrome, I feel it is worth my time and efforts to continue down this trail until it leads me to a dead end or keeps going. So much of what we do in life is trial and error and I am willing to take risks especially if it is for the betterment of my child and others like her. Will it change anything, absolutely not, but it would answer many questions I have and provide peace of mind. I can't think of a more appropriate way to describe Harper than mosaic. She is most certainly one of the greatest works of art and is made up of many different yet colorful pieces :)
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