Kallman's Syndrome: The Secret Best Kept

I went to my cardiologist yesterday.  Every year I have to wear a Holter monitor for a day because of a heart ablation I had in 2007.  If you don’t know what a Holter monitor is, it’s a 24-hour mobile, wires-hanging-off-your-body EKG. 

The nurse practitioner saw me, (not the doctor, which is ok because his voice puts me to sleep).  She was very sweet.  She asked me if I was still taking Estradiol and Progesterin.  “No,” I said. “I’ve totally gone off those.  I was on them for a very long time and I wanted to be sure to stop.”

What I didn’t tell her is how long I actually had taken those hormones.  37 years.  I started with HRT when I was 17 because I have Kallman’s Syndrome. 

You may never meet a person who has this condition.  It only affects 1 in 10,000 people (or 1 in 86,000, according to one source) so that’s quite a range and far more males have it than females (as do most negative things).  So, being female, I am quite an oddity, one in 100,000 maybe.  And even if you do meet one, you might not suspect it and he or she will probably never mention it to you.  You will think it strange that the person says he or she has no sense of smell, and the person may look younger than his/her age.

Earlier on this blog I got after people using the term “coming out of the closet” because they do not know the origin of that phrase.  It comes from a time when gay men were assumed to wear women’s clothes—they were hiding in the closet trying on those clothes.    But I am coming out of the closet and admitting that I have Kallman’s Syndrome.

How do I know?  My gynecologist, who was also an infertility specialist, told me 30 years ago.  He asked me if I could smell, and I said no, I had almost no concept of what smell is even like.  He knew because he took me off my hormones for a while and tested my LH and FSH levels.  They were about as low as they could be, less than one-tenth the normal  level.  I think the normal level on the FSH was supposed to be 25 and mine was 2.5.  I was glad to get back on my hormones, though.  They were a lifeline to some sort of normalcy.  Being in your twenties and having menopausal symptoms is no fun.  Neither is being in your fifties.

Essentially, I never went through puberty.  I was 17, so my mother took me to a doctor back home in Maryland who put me on hormones, Premarin and Provera, which I took for years.  I left for college shortly after that, having my first cycle 600 miles away from home.  Slowly over the years I started to look more like a woman, except I was usually taken to be ten years younger than my age (not a bad thing).  I lived my life pretty normally except that I knew I would probably not have a child. 

In the last few years, in an attempt to write my memoirs, I have started to research Kallman’s more.  My main concern before now was that my son would get it, since it is caused by a recessive gene.  He did not; he’s quite normal.  I also used to fear he would be autistic because it and related conditions seem to run in my family.  He isn’t, nor does he have the mood swings and addictions in my husband’s family.  He is very blessed considering the genetic cocktail he’s been force-fed.  My other concern was HRT’s connection to cancer and heart disease.  I have had more mammograms than most women my age; so far, so good.

In researching Kallman’s, I found the following: 

“The features of Kallmann syndrome vary, even among affected people in the same family. Additional signs and symptoms can include a failure of one kidney to develop (unilateral renal agenesis), a cleft lip with or without an opening in the roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. Bimanual synkinesis can make it difficult to do tasks that require the hands to move separately, such as playing a musical instrument.”   http://ghr.nlm.nih.gov/condition/kallmann-syndrome

So that’s why I could never get the hang of playing the piano, despite lessons!  I simply can’t get my right hand to do something different from my right.  (Then how come I can type?)  I do have a weirdly shaped mouth and crooked teeth (that piece of skin under the nose and behind the lip is very long).  However, my hearing is very acute, my kidneys are super, and while I am very nearsighted, I don’t think my eyes move abnormally.  I’m really quite healthy, except for the normal old age stuff. 

Sorry—I got a little snarky there.  I am so used to all those things, even the lack of smell, that I don’t mourn the loss of them.  I consider myself so incredibly blessed—mostly because I did have a child—that all those other quasi-symptoms seems small (although I have to admit a non-functioning kidney would not be a quasi-symptom, nor would a cleft palate). 
Now, in terms of the child, it went like this:  I took Perganol injections.  It makes a woman produce lots of eggs, something I could never do naturally.  This is how we get Octomoms.  Except that I had a very wise doctor who wanted to avoid multiple pregnancies and law suits, so he made sure eight eggs would not be fertilized.  He wasn’t even crazy about twins, although I thought, at the time, that twins would be cool and would save money—two for the price of one. 
I had Perganol injections in Fall of 1987, and they didn’t work; I had them in March of 1988 and they did, and I had my son in December, four days before my own thirty-third birthday.   When he was two and two-and-a-half, I went through the procedure again, but neither time was it successful.   My dream of a sibling for my son never materialized, and that is one of the regrets of my life.  I would have been willing to adopt, and actually would adopt a baby tomorrow if someone handed me one, but we had too many personal problems back then to get past the home study. 

By the way, if anyone is wondering:
I like sex and I don’t know if my experience of it is any different than anyone else’s.  I think knowing I couldn’t get pregnant helped, rather than hurt. This would lead into a discussion of sexual experience in general and my faith.  We are not bodies; we are not souls imprisoned in bodies; we are souls who get to live in bodies.  To treat the bodily experience as evil is to deny the rightness and validity and value of the incarnation of Christ.   Sex is important and pleasurable, but it is not a need like food or drink or shelter.  It must be within marriage.  These ideas are so foreign to most today that I might as well be writing it in Mandarin Chinese.  However, don’t take this to mean that I have put sex on the shelf because of this severe hormonal deficiency I live with.  Even now, totally off my hormones, sex is a good thing. Just not as often, but that’s another story.

Second, about the lack of smelling ability.  We Kallmanners don’t have olfactory bulbs; something about the pituitary gland not sending signals to other parts in utero is involved.  I do not pretend to understand the genetic end of it.  I really, really have a poor educational background there.  My parents have a sense of smell; my son does.  I do not know of anyone else in the family who has or had this condition, and I come from an incredibly large family.  My maternal grandmother had eighteen grandchildren.  My paternal grandmother had twelve children.  There are a lot of us Grahams and Fraleys and Roses running around.
I’ll be the first to say the lack of smell is just a plain nuisance.  I could never smell my son’s poopy diaper; I had to look—or feel.  I can’t smell farts, B.O., bad breath, stinky feet.  It’s all the same to me.  If the car or the house has some odor of fatal gas or chemical, I would be dead before I knew it.   And cooking:  Oh, my.  How many arguments have my husband and I had over that.  If it’s burning, how would I know?  A few years ago a friend brought banana nut muffins to work and I was enjoying them.  “So this is what banana nut muffins are supposed to taste like.”  She looked at me quizzically.  “I think I always burn them,” I explained.  “I can’t smell them.”  My sense of taste is not acute, but I don’t think I suffer too much from the lack of smell.  I depend a lot on the texture of food; trust me, I enjoy food too much, as my extra 25 pounds will attest.  Last week my husband ordered a dish from a Chinese restaurant.  This establishment cooked it with lots of squid.  I couldn’t smell the squid, but I surely had a nauseous reaction to it (ate it in Italy; fishy, rubbery baloney was my impression).

Obviously, some social problems can come from not being able to smell.  I am always fearful that I just plain stink.  I take care not to, but it still happens.  All smell is vicarious, surrogate.  I worry that my writing will lack an authenticity because of this deficiency.  Close family members have no trouble telling me if I do.  My mother used to tell me my hair smelled like a dog’s, that is, when I was growing up she would say that.  My husband lets me know that I have on too much perfume.  My son is quick to notice smells; his taste and smell are even more acute than his 
father’s.  At least I can enjoy the dogs whether they have a stench or not. 

But the real question is that of sexual identity.  Do I feel like a woman?  Of course I do.  I have all the working parts; they just didn’t have any gasoline.  I like most things women do:  a clean house (which is rarely achieved); clothes (very much—one of the reasons I love old movies is the beautiful outfits of the ‘30s, ‘40s, and ‘50s); children and being motherly.  But I don’t like fru-fru, don’t see the need for 50 pairs of shoes, can take or leave a girl’s night out (although lunch with friends is one of the joys of living).  I despise romance novels, finger- and toe-nail polish, the thought of plastic surgery for other than medical purposes; and I am indifferent all the celebrities I am supposed to love (Brad Pitt down to Oprah and on to The View ladies.) 

What defines womanhood anyway?  I really don’t know.  I do not feel now that I am any less of a woman, but in the past I did.  And don’t women have more freedom to be androgynous than men do?  A man who knits is berated; a woman who likes to shoot guns is “cool.”  A man who wants to be an elementary school teacher has to fight for respect from many (until he becomes the principal); a woman who wants to be a doctor is respected already.  This is not to say discrimination does not exist; it does.  I work in academia and despite their propensity for left-wing causes, academic men can sometimes be dreadful chauvinists.  A woman who knows what’s she’s doing and isn’t afraid to speak her mind with tactful firmness surprises men and some women, and she will have to work hard to convince people she is well-meaning even if self-confident. 

In looking through Kallman’s related websites, I came across the term “Intersex.”  Apparently some folks are equating Kallman’s with some sort of hermaphroditism.   I definitely don’t see that; in fact, I think that just makes any self-esteem problems worse.   And intersex person would either have indicators of two types of sex organs; or, he/she has neither.  As I said, Kallman’s sufferers have the working parts of their gender, they just lack the hormonal fuel to get it going.  And sometimes this condition can be idiopathic, in that it is not genetically traceable.  Along with the intersex “accusation” is that Kallman’s should be considered in a similar category with LGBT people.  Now, anyone who knows me well would know my feelings on that one.  Would we now have LGBTIK activitists?

I did not let Kallman’s hold me back; well, maybe I did.   Career-wise I have done well enough:  two graduate degrees, 33 years of teaching, three novels published, two textbooks, scholarly articles, loads of administrative roles, ministry credits, two blogs, technical writing credits, many friends, a well-raised son, in good standing with everyone, financially solvent, married for almost thirty years (that’s probably the biggest accomplishment), a teaching award, healthy, nice garden, incredibly, incredibly blessed.

I think I was held back more by my fundamentalist expectations of womanhood than by the Kallman’s.  However, I did carry a sense of shame because of it.  I didn’t want anyone to know.  I never told people.  I knew they wouldn’t understand, and it was just too complicated to say I had a hypogonadotrophic hypogonadistic disorder.  So I have gotten into a habit of listening to people more than talking about myself.  Most people, trust me, love to talk about themselves.  Especially men.  So they think me quite intelligent and charming because I listen.  What they don’t know is that I am doing research for one of my future novels whenever I listen.  I listen for phrases, for idiosyncratic ways of speaking, for tidbits of knowledge, for story elements.  And I just prefer to listen than to talk about myself, because I think I’m boring.  A colleague told me once, though, and he was right, that in being a listener who does not reveal much about myself, I am saying I do not trust the other person and in a way putting myself above them.    Aloofness becomes a way of life.   I think a combination of factors—the fundamentalism, working class background, family alcoholism, Kallman’s, self-consciousness about my looks—work together to create a desire to hide some of myself to everyone.  Maybe that’s why I blog.

Now, many people would wonder about the psychological and social effects of such a condition.  And that of course is where most of the literature focuses, since fixing the hormonal side of it isn’t all that difficult.  Websites and FAQ pages will say things like “Individuals with Kallman’s Syndrome might be shy and socially awkward. “  Looking back, I would say yes, I was.  Embarrassingly so.  What others seemed to know, I had to learn by watching and reading about it.  I can be blunt, and I can avoid other people.  Being alone is fine.  I never dated in college, and when guys don’t show an interest in a girl, she is going to suffer from poor self-esteem.  So I developed an attitude that I was not going to be inferior to men.  I had three brothers; men are no mystery to me, and neither are they a group I pander to to get what I want, or submit myself to just because they are male.  Odd words from a Southern Baptist; I hope the SBC is changing. 

One interesting side note:  Because I didn’t go through puberty until I was I my late teens, my brain did not “change.”  I hit a brick wall in my math learning; trigonometry made no sense to me in the tenth grade (I was in the advanced group), but I took two foreign languages in high school.  Children lose the ability to learn languages easily after puberty, but I didn’t go through puberty, so language learning was easy.  I still know Spanish very well, although I don’t “hear” it nearly as well as I read and speak it. 

Kallman’s  has always been with me; now I am middle-aged and past a time when the condition would make any difference in my decisions or opportunities.   It is in the past, so to speak, but it defined who I was and therefore still has an influence on me.

If you have read this and have Kallman’s, I am sorry but it’s not a death sentence and medical science has treatments if not cures.  If your child has been diagnosed with it, he or she will need lots of encouragement.  Be patient with him or her; your child is facing some things that are very hard to understand.  I realize I have written all this from a female’s point of view.  There are fewer of us, and all the websites I have seen focus on males.  Feel free to write me through this blog if you have questions or want to talk about it.