Rebecca’s point of view
It had been another long day at school. I got home to find my dad pacing in our living room, explaining that he got results from my doctors. I had gone in two weeks prior, requesting an ultrasound after having a lot of stomach pains.
Later he had told me that the doctors did not see anything there. And by that he meant I had no uterus. I was shocked. It had been about 3:00 pm, on Tuesday the 29th of March, 2011, that my journey started.
Two long weeks later, I was referred to another doctor; an endocrinologist who worked at the hospital about ten minutes from where I lived. She sent me to get another ultrasound done by a different doctor, just as a second opinion. I didn’t really want to, but if they could give me a different answer than the first ultrasound technician, than I know I would be happy.
And what do you know; I was right. The second doctor had told me that I did in fact have a uterus, it was just small, approximately the same size as a six year old's. I was quite satisfied to hear the news, though I was desperate to know why it was found so abnormally small.
Well, one MRI, several blood tests and weeks later, I was told I was probably more than just a “late bloomer.” I had started taking hormone pills, once daily, because the hormone levels in my brain were extremely low.
I remember being in my endocrinologists’ exam room, and her asking me a simple question; “Can you smell anything?” I didn’t know how my sense of smell or lack of it was relevant to my hormone levels. But I responded no, I can’t smell anything.
She told me that having no sense of smell (Anosmia) is actually linked to a more serious syndrome. She wrote down two words and told me that it might be what I have. The syndrome was in fact a very rare genetic mutation, called Kallmann’s Syndrome.
Kallmann’s Syndrome is a very rare genetic disorder, where there is no signal in your brain going from your pituitary gland to produce the hormones you need in order to finish and/or go through puberty. It is more common in boys, being an X related gene that is harmed by the mutation.
So, that was it. I went to Massachusetts General Hospital, and they gave me a blood test and a ‘smell identification test’ (in which I failed miserably) and told me that all signs point to me having Kallmann’s.
They took my blood to a lab where they would further take a look at my genes, to see if the mutation is in fact genetic in my case, or if it was sporadic; if it happened for no reason at all. The genetic tests, however, would take about nine months to come back to me with results.
Well, time went by. I was taking estrogen pills to get my body to go through puberty, and almost a year went by. The entire trauma from learning about my condition affected me in every physical and mental way imaginable. I desperately wanted to meet somebody- anybody -in the world that had K.S. and understood me.
And on Wednesday, May 2nd, 2012, my wish had come true.
It was another cloudy day here in New Hampshire, USA. I left my laptop at my moms’ house, and I went to use my dads’ computer. I went on-line, and checked my Facebook account. I had one friend request from a boy I didn’t know.
I checked out his page, and saw that he was living in Tasmania, Australia. Now, of course, I thought it was a little weird that a boy from the other side of the world wanted to be my friend, and I wondered how on earth he knew me.
I sent him a message:
“Hey. I’m sorry, I don’t mean to be rude but, who are you?”
Once I got my laptop back, I saw I received a message back.
“Hi there, um, I found you on the Kallmann’s Syndrome page. I have K.S. too and it’s so good to know someone else that has it, too. Anosmia sucks, doesn’t it?!”
And there at that moment, I knew my life would change.