Tag Archives: chromosomes


4 May

My photograph “1964” is the reason I have started this blog. My cousin recently scanned it and sent it to me. It depicts me, my sister and my cousins in the backyard of my childhood home. I am second from the left, wearing leg braces and an “Indian” headdress, holding a spear. It appears that I am, at the age of 4, very in touch with my “inner warrior.”

I am an adult living with XLH, which is short (no pun intended!) for “x-linked hypophosphatemia.” The photo “1964” was taken about three years after I was diagnosed. The diagnosis at that time was “Vitamin D-resistant Rickets,” but the correct term now is XLH, since it is a mutation on the “x” chromosome. It is a genetic form of rickets, with visible signs of short stature and bowed legs, usually. There are other manifestations of the disorder that can be found at http://www.xlhnetwork.org. I have realized that aging with this disorder is going to challenge me to get back in touch with my “inner warrior.” Come to think of it, aging in general begs us all to get in touch with our tough side!

I find that learning about your family history via genetics is quite fun. It makes me recall those days of junior high science class when we learned about the x chromosome, the y chromosome and fruit flies. So, basically, this is how it goes: The female fruit fly has two “x” chromosomes, and the male fruit fly has an “x” chromosome and a “y” chromosome. Ms. Fruit Fly falls in love with Mr. Fruit Fly (unrelated) and they decide to have baby fruit flies. Mrs. FF passes down one of her “x” chromosomes to baby and Mr. FF passes down either an “x” chromosome OR a “y” chromosome. Basically, Mr. FF determines the gender of baby ff. SO, if the baby boy fruit fly has XLH, we know that he got it from his mother, since she’s the only one who gave him an “x” chromosome. If the baby girl fruit fly has XLH, she could have gotten it from either her mommy or her daddy. In other words, if Mr. FF has XLH, he will always give it to his girl babies, but not the boy, since he only gives “y” chromosomes to them. If Mrs. FF has XLH, there’s a 50% chance she’ll pass down the bad “x” to her baby fruit flies.

To complicate things even further, if a fruit fly has XLH, there is NO WAY that you can make leg braces small enough to fit their teeny little legs. The good news is, they have an alternate mode of transportation, i.e., their wings, so it’s not critical. The bad news is, humans don’t have wings. So, leg braces and medication are necessary. Been there, done that, got the t-shirt.

© S. G. Hunter and Banjogrrldiaries, 2012-2017