James Parker: "Born with a little extra" (My diagnosis)

Updated: Dec 12, 2020

“You have no swimmers”, said the urologist.

“As in, they are all dead and not swimming?”, the young 28-year-old man replied.

“No, your sperm analysis showed that you have no sperm at all.”

It wasn’t something that I was expecting to hear on a Tuesday morning after two weeks of preparing for this moment. How do you prepare for such a moment anyway?

It was two weeks earlier when I was standing in my local doctor’s office, the same doctor I have seen for 28 years, that I decided to ask a ‘throwaway question’. I had gone to the doctor over another issue, but that was easily fixed. As I reached for the door handle, so that I could leave, I let go and took a step back.

“Before I go, could you check something? I have always been like this, but could you check this?”, I curiously asked.

The doctor checked and said, “Ahhh, as they are very warm, you may be infertile.”

“Oh ok”, I responded, as there were no words to reply to such a comment.

The doctor typed a few details out on the computer, printed off a referral to a urologist and handed over the letter.

A week later, I arrived at the urologist, and nervously waited in the sitting room with my mother by my side. We watched patients arrive, take their seats and then disappear down the hall and vanish into the rooms on the right-hand side. This repeated until a voice spoke out, “James. You can come in now.”

That was my cue. I jumped up and walked confidently towards the third door on the right. The urologist had a look at the referral and then gave me a physical to check my current condition. I asked him to be blunt with me, don’t jump around the truth.

He said, “I am only blunt, and it looks like you may be infertile. It will be best to have some blood tests, a testosterone test, an ultrasound and a sperm analysis. And then we will go from there.”

After another week of mentally trying to process the What ifs, “What if I was actually infertile? What if I could never have biological children?”, I was sitting in that same waiting room, in the same seat I had been sitting in a week earlier. My mother was sitting on my left and we watched men and women disappear into rooms, just like we did before.

I said, “I will go in and I will signal to you if you should join.”

Laughing, we came up with two hand gestures, either I pretend to cut my throat, which signified a bad result, or do spirit fingers which means that everything is ok.

“James”, a voice called out. I jumped out of my chair and proceeded towards the third door on the right, walking in I sat in the maroon chair closest to the urologist’s desk.

He said, “Do you want your mum in here?”

I said, “No, we can discuss it first and then call her in if necessary.”

He said, “This is going to pack a punch, and it is going to be very challenging for you.”

There were no spirit fingers used that day.

I thought, “Crap”, and I approached the hall to look towards mum, giving my hand gesture which responded in a face of shock.

The urologist began, “We have all the results back. Firstly, males should have testosterone between 9.2 to 31.8 nmol/L (nanomoles), and your results show an extremely low reading at 2.4 nanomoles. You fall into the female’s range of testosterone production.”

After a brief pause, he continued, “Secondly, your sperm analysis shows that you have zero swimmers. No swimmers.” A tear rolled down my cheek.

The average male produces 39 to 928 million sperm each ejaculation. Anything less is

classified as infertile. But ZERO, that was unexpected. Producing no sperm is defined as azoospermia, which occurs in 1 in every 100 males. But there was no time to process this, as we had to go to the endocrinologist to discuss any possible solutions.

'Google doctor' is a killer, it makes you research and question possible outcomes. However, due to my journalistic researching background, I was able to discern between information that related to me and information that did not. I had come to the conclusion that it was highly likely that I had a chromosome abnormality called XXY, but the specialist was going to provide me with accurate answers.

The interior designer of the endocrinologist’s reception must have thought pastel pinks were calming, as the room was dedicated to this colour. I still sat nervously waiting for my name to be called. I entered the office and sat down with her and we discussed the next process.

“You are going to have to have some more tests”, she said.

Another eight tests to be exact.

“An MRI brain scan, urine collection, saliva test, karyotype chromosome test, another

testosterone test, a DEXA bone scan, and a new range of blood checks.”

The issue now was waiting another three weeks for the results. The first two weeks flew past with ease, but the last seven days dragged on creating a mental boxing match, where overthinking was in one corner and confusion in the other. Finally, I received a phone call that I answered with a smile.

The voice on the phone was my endocrinologist who said, “Hi James, we have your karyotype test results back and you have Klinefelter’s Syndrome, like you thought. Book in for next week and we can start on Testosterone Replacement Therapy (TRT), as I know how much you want to start at the gym again.”

I answered with a smile because it was like a weight had been lifted off my shoulders. Looking into the symptoms that I had, I understood my previous 28 years. Why I thought what I did; how I thought differently to other people; why I had a little more difficulty making friends; why I had problems with my speech development as a toddler; why two years of dedication at the gym didn't increase my muscle mass; why I always felt a little different but didn't have a word to describe it...now I did, or in a way, now I had three letters to describe it: XXY.

Growing up, my mum always thought there was something different about me, but no one was able to pinpoint it. Different doesn't mean bad by any means, but I was different to other children my age, perhaps because I found it difficult to make friends. I loved dressing up for fancy dress days during kindergarten and primary school, but I was always nervous approaching school those days in worry that I would be judged.

Mum says that as a toddler I was "always smiling", and was a child who "loves drawing, laughing, has a big heart, very kind and thoughtful". In a letter I found in my primary school portfolio, mum said, "I love to hear James sing when he is listening to his CD player and he doesn't know I am listening".

I was shy, had a lack of confidence and was very quiet in nature, and I think that this lack of confidence hindered my ability to make friends growing up. However, times change and people change, and I have changed. Who would have thought that I would dedicate my life to speaking with a whole range of people with varying backgrounds; and that I would make friends with everyone I write about, and without difficulty. It goes to show that those with XXY, do have a little extra and should be treasured for their differences. P.S. I still like dress-up parties, yet, no longer shy.

Receiving something as simple as a phone call stating that I had XXY, lifted a weight that said, 'I wasn't bad, I wasn't "broken", I was the way I am for a reason'. The only way to answer a phone call like that is with a smile.

Klinefelter’s Syndrome goes by the name XXY or 47, XXY due to the extra X sex

chromosome. When males and females are born, they have two sex chromosomes. Males have an X and a Y sex chromosome. Females have two X sex chromosomes.

Due to an abnormality, I received an extra X chromosome, providing me three sex chromosomes.

This syndrome is often misrepresented online to often show negative effects, however, XXY consists of many positive traits. One non-profit, Living with XXY, aims to provide positive awareness.

As it is a spectrum, there are degrees in variance amongst each individual. Those that have it can have most of the symptoms, very few of them, or a range of symptoms. Some symptoms include gynecomastia (breast tissue), wide hips, small testes, low testosterone, weaker bones, less body and facial hair, narrow shoulders, longer limbs, taller than average, and difficulties in reading, writing and talking when growing up. However, positive traits include photographic and visual memory, hands-on learning, creative mindset, strong long term memory, and compassion for other people.

In Australia, approximately 1 in 650 males have XXY, but only 25% of those that have it will ever be diagnosed during their lifetime.

To paint a picture, imagine 50,000 males in a stadium. 5000-7500 will be infertile, 500 will not be able to produce sperm, 76 will have XXY, and only 19 will ever be diagnosed. Those statistics should change as more people should know, and in Australia we are blessed with the Medicare system which is an enormous help.

I had been exercising four to six times a week for over two years. Each day MyFitnessPal would receive its own calorie counting workout, which currently sits at 1010 days logged in a row. Personal trainers, high protein, heavy lifting, and physio sessions became the norm.

The syndrome explained my lack of testosterone, which resulted in low muscle gain and any muscle maintenance. However, now I had a solution, and all to gain.

Four months ago, I began Testosterone Replacement Therapy. My levels of 2.4 nanomoles has changed to 20 nanomoles (Normal male range: 9.2 to 31.8).

Both energy and libido have increased, my muscle mass and body composition have changed, and due to all those things, my confidence has risen dramatically.

Gel will increase my levels gradually, until injections can take over. Four months in, I shower every morning, pump five squirts of Testogel into my hand, then rub it over my shoulders and stomach until dry. Once dressed, I enter the day like any other male, looking like any other male, the only difference is an X.

In a way, I just have a little extra.

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There is no greater agony than bearing an untold story inside you.

- Maya Angelou