All About Indie - Kallmann Syndrome


Welcome to the first post of the "All About Indie" series. I suppose that writing posts about my conditions and calling them an "All About Indie" series kind of makes it seem like my conditions make me who I am, but in a way, they've definitely played some large parts into why I am the way I am.

Today, we'll be discussing my diagnosis of Kallmann Syndrome. I wasn't diagnosed with KS until later in life, and that's due to the fact that I'd already been diagnosed with PCOS (Polycystic Ovarian Syndrome - which we'll go over in another post.)


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What is Kallmann Syndrome?

Kallmann Syndrome (or KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Only 1 in 125,000 females are diagnosed with KS - lucky me, right!?

Common Symptoms

(I'm going to pull these straight from Wikipedia and add a few more that have been left out.)

Reproductive features

Non-reproductive features

My Symptoms

I'd like to start this section by saying that it is FAR too common for doctors to dismiss symptoms as being unrelated to illnesses in women. Every time I go to the doctors with some kind of issue, I lay out every symptom that I could think of that perhaps might help in a diagnosis ever since being diagnosed with KS. Why? Because who would have thought that missing teeth, webbed toes, bent fingers, problems with hearing, or a complete lack of a sense of smell would have anything to do with the fact that I wasn't having a period? I'm only going to go over the symptoms that were overt in my case. The ones that I couldn't tell without a test, I mean, it's not like I knew about them.

Primary amenorrhoea - this, to me, was the first sign there was something wrong. Every other girl in my group of friends - even those younger than me, had their period. Where was mine? As with everything else in life, I pretended so that I didn't look like a weirdo.

Poorly defined secondary sexual characteristics - I can remember my friends' dads telling me that if I were to lay down in a rainstorm, I'd form puddles on my chest, because that was how small (or non-existent) my breasts were. It really wasn't until I'd had my first child that this area grew.

Infertility - I'm lucky in that I was able to get pregnant 6 times, and have 3 living children. With the mix of PCOS and KS, there should be no reason why I have kids at all. In fact, the same doctor who told me at a young age that I would never have kids was the doctor who also stuck a heart monitor on my belly when I wasn't feeling well and told me I was pregnant. Between my oldest and my second child, there is a 9 year difference. And that's not for a lack of trying.

Anosmia - I remember as a kid, I'd pretend (I had to do a lot of pretending) that I could smell, because I thought that I just wasn't doing it right and that maybe I'd learn later on. I was too ashamed to ask someone to teach me how to smell because it came so naturally to EVERYONE around me. At a certain point, it was realized that I couldn't smell, though there are some who, to this day, think I'm faking it. I actually lost a job when I was 18 over the fact that they couldn't fit-test me for a mask. (More about that in another post.)

Neural hearing impairment - I remember my aunt asking me when I was young if I had a hearing problem (and no, it wasn't a smartass question asked when a child doesn't obey, I was an obedient child). I spoke louder than necessary and often thought that people were mumbling. This is still true today, and now tinnitus has joined in on the fun!

Missing teeth - I still had baby teeth in my mouth into my 20s, because my adult teeth just were not there to replace them.

Syndactyly - "You're a frog/duck/other web-footed creature!" "Hey, you should be the best swimmer around with feet like those!" I have webbed, deformed toes. They're ugly. I just thought it was genetic (and technically it is), as both my aunt and dad had them as well (though, not to the same degree that I did).

Camptodactyly - this is a condition where your fingers don't want to straighten do to a tightness of the skin and/or a malformation of the bones, usually only affecting the pinky finger. My case is very mild, but enough that I've had people ask me about my pinky fingers. In my case, it's bilateral, which means it affects both hands.

How I'm Affected

Aside from the infertility issues that I struggled with, and the incessant teasing from males when I was young due to my failure to "mature" physically, KS hasn't had a big negative impact on me. The lack of periods is really nice, actually, except when my body decides it needs a major clean out and then expels two-years-worth (volumetrically) of blood in a span of 3 days.

Next on All About Indie

Next, I continue on with another female biological condition. Might as well get them out of the way and then we can get to the fun ones!

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