Willa's Story

[Published in ALIAS No. 18, Spring 2001, under the title New Paradigm?]

A US mother emailed (Oct 2000):

Hello, I am the mother of a 3½ year old intersexed son that has been diagnosed with 5-alpha reductase deficiency. This diagnosis, a year ago, resulted in our reassigning our child from a girl to boy (he had originally be diagnosed as AIS). Because of his age at testing, and our doctor's unfamiliarity with 5-ARD, there is some ‘question’ about the diagnosis. Our son, who was adopted from Viet Nam at 20 months, has had no surgery, and we do not anticipate any surgery until he is older and can participate in the decision making process.

I have been following various leads for about 18 months in the US (where we live) to find someone who is currently working with 5-ARD children, and I can find no one. So now I am beginning to look outside the US. Do you know of any endocrinologists that work with 5-ARD children? Do you know of any other parents of 5-ARD children that have decided to raise their child male instead of female?

The isolation is tremendous. I have been in contact with various groups in the States (AIS Support Group and Intersex Society [of N. America]) that have been great sources of general information, but they have been unable to help identify specific people working with 5-ARD. Thank you for any help that you can provide. Willa Cree

The mother’s name seemed familiar from a couple of years earlier when Sherri in our US group had told us about Willa’s web site concerning adoption from Viet Nam (http://www.public.asu/~wcree).

We asked some UK specialists for their help and also put her back in touch with Sherri since we found it surprising that Willa had not been able to find a specialist in the US who treats 5-ARD children, since it is a well-known, albeit rare, condition as far as paediatric endocrinologists are concerned.

We asked Sherri whether Dr. Bruce Wilson (with whom the US group had made contact since the time of Willa’s original contact with them) might be able to help. He had been of great help to an adult 5-ARD group member who had been his patient as a child and who sought him out again recently in order to clarify her diagnosis and case history (see “Tammy’s Tale” in ALIAS No. 16). He also spoke at the last US group meeting in Boston in August. We also mentioned Dr. Paul Thornton, a paediatric endocrinologist who moved from Ireland to Philadelphia Children’s' Hospital about a year ago having always been extremely appreciative of, and helpful to our UK group (see “Sunlight and Fresh Air” in ALIAS No. 10).

Sherri made some recommendations, to which Willa replied:

Sherri, I am so happy to hear from you!! Thank you for the information!!! HOW ARE YOU?? I'm sure you are very busy, but if you have the time, please write and let me know what's happening in your life!

I am so sorry that I have lost contact with you, but the last 2 years have been pretty extraordinary.... Briefly, last October, we reassigned Lynn from girl to boy, based on the results of tests that showed he did not have PAIS, but instead suggested that he had 5-alpha reductase deficiency. Of course, if the doctors had had their way, his penis and testes would have been taken out WAY before results of the tests were available. As it was, the doctor waited 4 MONTHS to tell us that the initial diagnosis was incorrect. I was SO angry. Needless to say, he is no longer our doctor!

But somewhere along the way, I think I forgot to stop and thank you for all your help! It was the original discussions that I had with you that made me so determined that the doctors would not be allowed to do surgery on my child. Had it not been for those discussions, I might have allowed the doctors to have done surgery when they first wanted to (which was about 2 seconds after the first doctor in the U.S. saw Lynn). But it was those talks with you that made me SO determined not to allow them to rush me into anything... much less allowing irreversible surgery...!! The doctors were NOT even going to bother to reconfirm Lynn's original diagnosis... they were just ready to cut.

I don't know how familiar you are with 5-ARD, but research has shown that there is brain masculinization in utero for these children and that these children will continue to masculinize normally at puberty (although his penis and genital differences will never change). And these children DO form a strong male gender identity. Now my beautiful son is 3½. A great kid, developing a strong male gender identity, and one of the happiest kids I've ever seen (yes I am prejudice but I'm allowed to be).

Sherri, I want you to know that you made a REAL difference in my child's life!!! Your courage to speak out and your compassion talking with parents (like me) who really have little knowledge about the issues, truly made the difference between my child being raised as a girl (perhaps scarred for life) and being raised as a boy.

You allowed us to give my son the life he deserves to have, and for that precious gift I will forever be grateful and indebted to you. Best wishes always.