The National Human Genome Research Institute (NHGRI) Social and Behavioral Research Branch is conducting a study to learn more about the experiences of individuals with androgen insensitivity syndrome and related conditions. These are not uncommon genetic conditions, yet little is known about individuals with these conditions with respect to their health care experiences, how they first learned about their condition and current use of and trust in health services.

Better understanding of the experiences of a diverse sample of individuals with AIS or other similar conditions could help genetic counselors and other health professionals do a better job at meeting their patients’ needs.

If you are interested in participating in this study, please contact Tricia Gasser, who is leading the study, at the National Institutes of Health 1-800-952-7951 mailbox 7732180043 or email tgasser@mail.nih.gov, with your mailing address and she will send you a study packet. The study packet includes a cover letter, survey, and a self-addressed, stamped envelope for you to return the survey at no cost to you. This is an anonymous study, meaning your participation and responses will remain completely confidential.

The survey takes about 20 minutes and includes questions about how you first learned about your condition, your attitudes about that experience, feelings surrounding health care providers, and your use of health services in the past 12 months. You are eligible to participate if you are age 18 or older and have AIS or a related condition (e.g. Swyer Syndrome, Vaginal Atresia, 5-alpha Reductase Deficiency, Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome).

If you have any questions or concerns regarding the study or are not sure if you are eligible, please contact Tricia Gasser at the above address. Thank you for your time and consideration. This study was approved by the National Human Genome Research Institute (NHGRI) IRB. The cut-off date for this study is August 31, 2004.

How cold, you will be judged, tagged, and numbered.


Genetic counselors ? a) help me OR
b)help parents that don't want to have
a child born like me.

I pick B.

The goal of the above study is certainly not to become detached from the real stories and voices of individuals, but to learn from them. Better understanding of the health care and disclosure experiences of a number of persons can allow health care providers and genetic counselors to learn from these experiences and improve the quality of care they provide. Therefore, any responses (even if anonymous) are valuable sources of information that are appreciated both for their individuality and their shared experience.

As a current genetic counseling graduate student, I can speak a bit about the role of genetic counselors as it has been modeled to me. Genetic counselors are dedicated first and foremost to needs of the client (I pick choice A!). The interest in this area of research is not at all related to reproductive decision-making, nor is it the practice of genetic counselors to coerce parents in any way. It is instead being carried out with the ultimate hope of improving the way individuals are informed about their condition and the care they receive, as well as facilitating better adaptation and coping. I can refer you to the National Society of Genetic Counselors (NSGC) website for more information about genetic counselors and what we do: www.nsgc.org

I appreciate the feedback and hope anyone who has questions or concerns about the study or our intentions as social science researchers will contact me through email or phone to continue this conversation.

Best,
Tricia

quote:

"Better understanding of the experiences of a diverse sample of individuals with AIS or other similar conditions could help genetic counselors and other health professionals do a better job at meeting their patients’ needs".

If that is the goal; then it is infinitely better than what has been in the past and is currently standing in the way of intersexed individuals: TVC and other paranoiac, shallow-minded and deluded medical/psychological/socio-political individuals or groups who regard such conditions as abominations of God or gross "abnormalities".

People with an intersexed condition need all the help they can get as it has been severely lacking for too long (except, of course, "normalizing" procedures). Unfortunately, that is the reason why many intersexed individuals distrust, fear, and dislike the above noted social entities and which may present an initial "obstacle" to the serious and honest individuals or groups offering help.

I have no problem with people like or her studies, I'm just more real about why people go and see someone like her. I know parents that have kids with CAH that go to genetic counselors and decide not to have any more children based on what was discussed with the counselor. She was quick to stress in her post "nor it is the practice of genetic counselors to coerce parents in any way " and wasn't trying to imply that but the reality is that the very information that she presents does help them in that decision.

"Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family." (NSGC)

I have no doubt that she wants to help and I rather find her career field interesting. My first reaction is "Why, does she want to help and what is the bigger picture ? " I know that there are programs that are dealing with CAH in regard to gene therapy that will in 10- 20 years make people that have CAH into carriers instead of people that present with medical symtoms. Also, there is a doctor that is working on a cure for CAH in her and my life time. I'm for this because there will be a cure for CAH long before there is any acceptance of anyone born different. CAH for me is a medical condition - born with an adrenal gland lacking the ability to make cortisol- need replacement cortisone med to suppress androgens and so I don't die in an adrenal crisis much like a diabetic needs insulin to live. Surgery was a necessary good thing because I needed menstraution to be able to exit my body and psychologically wise as a five year old I knew that my external genitals although didn't bother me but yet weren't quite right. This was something that I just knew and was calm about, it wasn't the best surgery at that time but it was good enough to match with my female gendered brain, female only chromosomes, two ovaries and uterus . I have nothing male - no male chromosomes or testes. So having ambiguous external genitals that looked more male than female wasn't to my benefit.

You all write in your posts about all the intersex conditions not being medically related but in reality we are viewed as again being things that need fixing or as something to avoid having in the first place. That's the impression I got from her post and others most likely will not take it that way.

quote;

"but in reality we are viewed as again being things that need fixing or as something to avoid having in the first place."

Yes, you are right. My previous post was written in the hope that the people involved in the "survey" use the information to learn about intersexed conditions and disseminate amongst their colleleagues who may, in fact, use the data to fix or prevent conditions such as CAH, rather than understanding the medical consequences (salt-wasting, osteoporosis, breast cancer) of some intersexed conditions and providing adequate medical care instead of "normalizing" sexual ambiguity....admittedly which some people and/or their parents will still want

I guess I overlooked the genetic counselor part , overlooking the possible eugenics aspect, and was thinking "outside the box"...oh well

Dana

What’s the difference between to tell or not to tell? Answer: secrecy. When you say that parents should not be informed because you don’t like their decision, you are as wrong as the doctor was who decided not to tell my parents (and me!!!) about AIS. It’s not up to you to think for other people; everyone has the right to make their own mistakes.

But if you DO tell other people (both parents and medics) about our feelings and our experiences, you make sure that they can’t say “Sorry, I didn’t know that.”

I find it difficult to advise parents about this. First of al, there is a difference between the abortion of an unborn intersex child (that is unacceptable to me) and the decision not to get pregnant after you’ve heard you are a carrier of a genetic disorder. Let me tell you this: AIS sucks, so I will never advise parents to give birth to a child with AIS if that is not necessary. But, on the other hand, I’m (rather) happy with my life. I know that it is an extremely difficult decision for parents and that’s why the help of a genetic counselor is important.

My concern with this kind of research is that nobody knows the origin of the stories.


Who will check that? Many people with one of those conditions where diagnosed with “testicular feminisation”. Later that was changed to AIS, but many people still don’t know exactly what their specific condition is. Besides that, I think that it is rather difficult to include MRKH in this research as those women have XX-chromosomes. If you include these women, you should include women with CAH as well. For this kind of research (the results are to be used by genetic counselors) it is important to know the correct diagnosis, not only to exclude transsexual people who think the diagnosis IS is a ‘better’ diagnosis than IS is, but also because people with different IS-conditions have different views on what should be the perfect treatment. Especially in the case of an incorrect diagnosis, chances are they are extremely unhappy with their treatment.

When you want to restrict your research to “AIS & related conditions” you probably want to define your target as “Women with androgen insensitivity syndrome (AIS), XY gonadal dysgenic (Sweyer Syndrome), mixed gonadal dysgenesis, Leydig cell hypoplasia, true hermaphroditism and androgen biosynthesis disorders like 5 alpha reductase 2 deficiency (5ARD) and 17b-hydroxysteroid dehydrogenase 3 deficiency (17BHSD).” To be political correct you can also mention 17a-hydroxylase, 17,20 lyase deficiency 3b-hydroxysteroid dehydrogenase 2 deficiency.

BTW, vaginal atresia or agenesis is not a condition in itself, it is a symptom.

Tricia, can you tell us a bit more about your research? How many people do you need to participate to get reliable results? How will you handle the differences between all those conditions? Please give us more information about the survey and the way you want to use our answers.

Groeten, Miriam

__________________
The Truth, The Whole Truth, and Nothing But The Truth.

Miriam, you raise some excellent questions, ones we have struggled with during the development of this study. The question of what conditions to include is challenging and I greatly appreciate your input. This will definitely be taken into consideration.

We are primarily interested in learning more about how individuals first learned of their condition and attitudes towards that event, as well as current use of and trust in health services. As such, we are choosing not to focus on the issue of treatment. This is certainly an important topic, but not one we chose to approach at this time. Due to the nature of this study, it is less important that an exact diagnosis is known since we are not proclaiming to be studying the effects of treatment on a particular condition or set of conditions. We are interested in perception: of health care, of the disclosure experience. Therefore, we will certainly look to see if there are any differences between the experiences of those with different conditions, but it will not undermine achievement of the primary aims of this study.

As for how many participants we would need to get reliable results, ideally, we are looking to recruit 80-100 persons. I know this may be ambitious, but the more people who participate, the more we can learn about the disclosure experience and experience with health care providers. Unfortunately, there is little research out there about these issues.

In addition, with regards to the question of how your answers would be “used” (don’t like to think of it that way!); we are hoping this study will add to the discussion on information disclosure. Views about how much and when to tell people details about conditions like AIS have varied over the years, but little research has been done drawing on the actual experience of those who have been through it. That is why we are hoping to recruit a large, diverse group of persons – to learn about your experiences with regards to this issue and learn from them.

Once again, thanks for the great feedback.

Best,
Tricia

Some people with CAH don't even fit the medical definition of Intersex. That in itself throws this off anyway. Not everyone w/CAH is born with ambiguous genitals and that is something to consider in your study, right? Or maybe, CAH isn't something you want in your study because the medical aspect of CAH is life threatening so much in that it is screened for at birth in many states.

If someone thinks that they have an intersex condition and they are just darn sure they have one but the doctors of course are wrong then you want them in your study just as much someone that actually was born with an intersex condition and has really dealt with it ? Is this an acurate measurement? Today, I'm a purple jelly bean, tommorow I'll have CAH and the next day I'll have AIS OR XXY ...wait... I'm a space alien. Sorry, I work with the public and they are crazy.


Someone could read about an intersex condition and make up the rest for your survey just because they want to put in their two cents about doctors and be in a study that isn't going to confirm anything about them. This isn't a pure sample and is disrespectful to people that have an actual intersex condition.


I guess, I'm hoping that this will somehow be a real benefit instead of just a study that advances your and others careers. I helped a lot of people (medical residents, psych students) advance their careers as an interesting case and I never got anything from it except that I WAS USED for their own curiosity, I mean so they can learn. I know that you "don't like to think of it like that" and I'm sensitive to your issues but this is what it is. We are studing you and I'M SORRY but I want to know when the studying stops and the acceptance begins? If it ever will?


If people in the medical community could learn to get over their own personal biases when it comes to conditions like mine than that would be a positive step. How I was born was no big deal and nothing special. It's when you get a nurse that tells you "that nothing bothers her" but when you tell her how you were born she replies "ambiguous genitals look weird" and yet again I have to find it in myself to have patience and understanding that she wasn't being mean but she just feels that how she was born is the ideal. Either people get it or they don't and do we need yet another study for this ? Are these the only conditions that people are kept in the dark about? This is sad. I never waited for anyone to clue me in because I started reading my medical records when I was ten and waiting for all the medical residents to gather.