Oh boy, I'm doing it again, starting a blog. I'll be honest, it's never really worked out very well for me. I guess it's because I get easily distracted and bored. However, this time I'm doing it for me, myself and I. This year has been really hard on me, and I've decided to start a new blog to work through my feelings and the same time advocate and brag about my family, especially my oldest son, Jacques. He was born with a genetic condition, we still don't know exactly what, but are hopefully getting closer to some answers.
His current diagnosis is FG Syndrome, however at this stage we suspect possibly, Mitochondrial disease. We will probably get him tested for Mito next year (it will be the second time he gets tested for Mito, the first test came back inconclusive).
He is going for a bone biopsy as well as a small intestine biopsy to test for both a bone disease and Celiac disease.
After breaking his foot in April and then breaking his leg in August, after low impact falls we had his bone density tested.
His z-scores came back VERY low. The endocrinologist suspects a form of Osteogenesis Imperfecta.
The neurologist had his blood tested for Celiac disease, although all of the blood work came back negative, his gene test came back positive for the HLA-DQ2 gene, that's when she ordered the intestinal biopsy to check for villous atrophy.
I have not even touched on our ordeal at the beginning of the year, but I will get to that in a following blog post.
His biopsies are scheduled for 11 November and I really hope we will get some answers from them.
For now I have said enough and feel better just getting these few words written. Till next time.
Cheers.
His current diagnosis is FG Syndrome, however at this stage we suspect possibly, Mitochondrial disease. We will probably get him tested for Mito next year (it will be the second time he gets tested for Mito, the first test came back inconclusive).
He is going for a bone biopsy as well as a small intestine biopsy to test for both a bone disease and Celiac disease.
After breaking his foot in April and then breaking his leg in August, after low impact falls we had his bone density tested.
His z-scores came back VERY low. The endocrinologist suspects a form of Osteogenesis Imperfecta.
The neurologist had his blood tested for Celiac disease, although all of the blood work came back negative, his gene test came back positive for the HLA-DQ2 gene, that's when she ordered the intestinal biopsy to check for villous atrophy.
I have not even touched on our ordeal at the beginning of the year, but I will get to that in a following blog post.
His biopsies are scheduled for 11 November and I really hope we will get some answers from them.
For now I have said enough and feel better just getting these few words written. Till next time.
Cheers.
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