BJ's Story

[Published in ALIAS No. 10, Winter 1997, under the title Extended AIS Family.]

We received this letter, by email, from Canada in April ‘97:

Dear ALIAS Editors/Members,

I recently received Nos. 6 and 7 of the newsletter. First, let me say that I cannot praise the North American representatives enough. Sherri sent me a great deal of literature and put me in touch with Patricia. Patricia has been incredibly dedicated in getting AIS information to me and my family. Sherri sent me a letter to let me know about the North American meeting in New York City [Sept ‘96] and Patricia followed it up with several telephone calls. As a result, I was able to ask my cousin to go to the meeting as a family representative. I cannot thank these two women enough!

I wanted to write to tell the AIS group about the AIS in my family. It is true that my cousin who attended the meeting does not have the AIS condition and neither do I, but I would argue that we are not ‘unaffected.’ Indeed, our entire family is very much affected by AIS. Perhaps I am being too broad in my definition of ‘affected.’ We are affected by AIS in that we love many people with AIS, and we may be able to pass on the AIS condition to our own offspring.

From what I can tell, the condition must have originated from my great-grandparents (born in the mid-to-late 1800s). Before their generation, there was not a lot of family discussion of sexuality-related topics so AIS may have been present but we cannot tell. Currently, there are eight women with AIS in my extended family. My grandmother had three sisters and three brothers. Of these four (XX) women, all of whom had children, three passed on AIS to their offspring. My grandmother herself had two AIS girls and three XX girls. Her sister, Annie, had one AIS girl and one XY boy. Her other sister, Janie, had three XX girls and one XY boy. One of Janie's daughters had two AIS girls. So, of what I call my mother's generation (50-65 year-olds currently), there are three women with AIS. Two of my grandmother's XX daughters passed on AIS, one of my aunts has a daughter with AIS, and another of my aunts has two AIS daughters. So, of what I call my generation (20-40s), there are five women with AIS.

I am sharing my AIS family tree with you because I think it is important to have this information available in order to better understand the condition. How many people have this much AIS within their family? If I look at my grandmother and her sisters’ descendants (I am omitting her brothers’ children from this calculation), there were 16 XY conceptions (that I know about) and 8 of these were AIS babies (50%). It is interesting to note that several of the women who passed AIS to their children also had XY boys (non-AIS XY children). This means that the gene is not ‘faulty’ every time?^{[Ref 1]} The genetics of AIS interests me a lot. It is quite possible that the AIS will ‘die out’ in my family as not so many of us can reproduce? In looking at my family tree, there are six XX women who could possibly pass AIS on to their children whose carrier status we do not know. Four of these women are post-child-bearing age (i.e., one is of my grandmother's generation, and three are of my mother's generation). My cousin and I are the only women of child-bearing age who could pass on AIS, presuming that AIS is maternally transmitted which I believe it is – although reading page 11 of ALIAS 6, 1996 I see that I may be mistaken, with one AIS woman writing that: “My doctor thinks it (AIS) started sometime last century when a male in the family passed the defective gene to a daughter”.^{[Ref 2]}

Ref 1: We responded: It is faulty every time but only on one of the carrier mother’s two X chromosomes. It's like this. The carrier mother's body (somatic) cells each have 2 X's, a 'good' one and a 'bad' one, as it were. The reason she doesn't have AIS herself is because her good X compensates for her bad X, (although there is some evidence that carriers can show mild symptoms of androgen insensitivity, e.g. delayed onset of menstruation and somewhat reduced pubic/axillary hair).

When the germ cells (eggs, in the mother's case) form, the two X's separate so that any given egg will have either a good X or a bad X (but only one X, not two). When a sperm (which is either X or Y) comes along, it can fertilize either a ‘good’ egg or a ‘bad’ egg. If it's a Y-bearing sperm, then the foetus is XY and will either be a normal male or will have AIS, depending on which egg has been fertilized. If it's an X-bearing sperm then the foetus will either be normal XX or carrier XX, by the same logic. It’s what’s known as an X-linked recessive inheritance pattern and is not confined to AIS.

Ref 2: We responded: You speculated that AIS might die out in your family and had a query about the mutation starting in a male family member. I don't know a lot about this but I guess it has to start somewhere and AIS is inherited only in 2/3 of cases. In 1/3 of cases it results from a new spontaneous/sporadic mutation in that mother's X chromosome, with no family history at all. So I guess it is possible it could arise from a spontaneous mutation in a father's X? Presumably any XX daughters he had would then all be carriers. But I'm not at all sure about this.

Recently, my potentially AIS-transmitting cousin got married. While both her AIS sister and I have talked to her about bearing children, I believe she is afraid of passing the AIS on to her potential offspring. Potentially passing AIS on to my child would not stop me from having children if I wanted them. If there were prenatal screening that could identify if my fetus were an AIS girl, and I found out my XY fetus was AIS, I would not consider abortion because of it. I find the idea of screening for such purposes appalling, in fact. I think it is analogous to screening for homosexuality (see Gunter Dorner's work) which I find reprehensible and tantamount to genocide (I will get off of my soap box now).

My cousin was told by my grandmother and by an AIS aunt that she should never have children in case she might pass AIS on (I have heard this third-hand from her AIS sister). My grandmother is not available for comment, but I imagine that she must have felt dreadfully guilty in order for her to say something like that to her granddaughter. She must have felt ‘responsible’ for the AIS condition of two of her daughters and three of her granddaughters. It seems so sad to me; it is almost as if she was saying, “If I could do it over again, I would not have children.” I love all my aunts and cousins (AIS and non-AIS alike) and would not trade them for anything/anyone. The feelings surrounding being the parent who ‘afflicts’ a child with AIS may need to be addressed, in addition to the AIS person's reactions.

One of my purposes for writing is to ask the group if anyone knows the name of the test that can be done to determine if one is an AIS carrier. I would like to give my cousin the option of ascertaining her AIS carrier status. As it stands now, she may simply opt to not bear children because she might be a carrier. What is the name of the test and is it available in North America? When I asked my physician, he requested that I find out the name of the test.

I have a great deal more to say, but this letter is already quite lengthy. Thank you for providing this forum. It is terribly important that AIS families speak out. Silence and secrets are deadly. The information I got from Sherri and Patricia – which they got from your group – has educated me incredibly. I really can't tell you how much I appreciate it. It is also filtering into my family (I'm slowly trying to educate them, too). Such a taboo topic for so long, this is not an easy task.

I think you guys are doing a great job with your newsletters. They are very interesting and very informative. Keep up the great work! Thanks again. Feel free to publish this letter or parts thereof in your newsletter. Feel free to use my name and address as well. Correspondence is welcome.

BJ Rye (proud AIS family member)

In Aug 2002 we asked her permission to put the above account on the web site and asked whether her cousin had managed to find information about carrier testing. She replied:

I can't quite remember what I wrote about AIS back then. I am more than willing to have you put my writing in (as long as it is factually correct still ... I know I wrote something and slightly miscalculated the % of children born in our family with AIS). To that end, I'd like to review what I wrote, if at all possible.

Anyway, I am proud to be a family member of women with AIS. I sometimes speak to my classes about it from a person perspective (i.e., I teach university human sexuality courses). I even had my cousin Mary Helen come in and speak about having AIS to one of my classes (when she was visiting me). Her boyfriend also spoke about being a boyfriend of a person with AIS. Do feel free to include my first and last name and degree if you so desire.

Mary Helen's non-AIS sister never did have a carrier test done. She got pregnant and they did some test to see if the baby were "fine" and it was XY. I don't know if it were amniocentesis or chorionic villus sampling but if she is a carrier, this baby was not affected. She hasn't become pregnant again (yet, anyway).

I'm the only other one who might be a carrier and the AIS status of my offspring would be somewhat irrelevant to me if I were to choose to become pregnant. But, thank you for the information on the carrier testing. Initially, I contacted Leonard Pinsky [Canadian AIS genetics expert] who basically said that he didn't do testing, just research and if we want to participate, learning carrier status might be a bonus for us.

I hope this helps!

If you want to post-script the 5th to last paragraph, you could say that my XX cousin who has 2 AIS sisters went on to bear a child, regardless of her (unknown) AIS carrier status. As I indicated earlier, her XY child was not born with AIS (his name is James!).