When you’re told to be different, to be unique, to be yourself as a child you always imagine that it is done by choice. You decide to wear your hair that way; you choose to dance, even though your friends are doing drama. As a young adult, you aim to be different to get noticed. You aim to stand out from the crowd to portray your true colours. The world is your oyster and you choose to seize every opportunity. However, as a twenty one year old adult, you never predict that you are going to be told you are different. In your wildest imagination, you never thought that there would come a day where your genetic make-up would define who you are and what the future would entail.
On the 20th October 2015 my diagnosis of Loeys-Dietz Syndrome was confirmed. Although suspected with a childhood cleft palate, long fingers, mild scoliosis, split uvula and enlarged aorta, it is only as the facts are laid out for you across an office desk in a genetic counselling meeting that the truth begins to hit home.
Loeys-Dietz Syndrome is a genetic disorder that is characterized by the association of aortic aneurysms, cleft palate and/or bifid uvula and generalized arterial tortuosity. Although having a cleft palate as a child, it is assumed that this is an independent random occurrence. It is never perceived that this is in fact one of the characteristics associated with the newly diagnosable Loeys-Dietz.
It was the events of May 2013 that set my family and I down the road of hospital visits, blood tests, CAT scans and Echocardiograms. On the night of the 1st May 2013, I attended my college ball along with many of my first year classmates. While we all danced, my name was called from the stage by the band. Little did I know what was to await me at the end of the night. As I descended in the elevator, escorted by a security guard, I was put on the phone to my uncle. Under no uncertain terms, he told me that I was about to leave the ball and set off to Beaumont Hospital where my Mam was about to undergo emergency abdominal aortic aneurysm surgery.
As I was rushed into a taxi from the venue, my thoughts raced at one hundred miles an hour. I could not imagine how my fit, healthy, active mother was in need of surgery. How could a once three-time marathon runner, an everyday cyclist be in need of surgery for what had appeared earlier as an intense pain in her stomach?
The Doctor confirmed my diagnosis in an elegant manner, discussing the impact this diagnosis would have on my daily life. Although many of the things she said had been mentioned previous to this, the confirmation that each of these things officially applies to you is overwhelming, to say the least. It is as if someone rolled a bowling ball in your direction, and although having waited on it to finally connect with you, it is at this stage that is has successfully bowled me over.
Although the notion of annual monitoring through various scans and imaging, regular hospital consultations is what is the treatment plan, the most daunting thing at this stage is the effects on exercise and pregnancy. At 21 years of age, our aim is to keep ‘slim and trim’. The fashion of toning through HIIT or classes such as TRX and Spin encompasses our daily lives. A sit-up takes us one step closer to the core we desire, the plank enables us to test our stamina and challenge ourselves to resist longer each time. To be told that I am now unable to complete resistance training or unable to push the extremes of my fitness is extremely frustrating.
I was then told about the effects of this syndrome on pregnancy in the future. There is a one in two chance of passing this genetic disorder onto my future child. The dangers of pregnancy had been mentioned previously and had been very upsetting to hear as a young adult with hopes and dreams for the future. Although these were eased by the assurance of the regular check-ups, aortic monitoring and the opportunity of a caesarean section in order to relieve abdominal aortic pressure, these are not thoughts that anyone wants to be discussing when in their final year of college. The harsh truth for me is that surgery will be needed prior to pregnancy and that monitoring will occur throughout. For some people this may seem trivial, yet when these are discussed at this early age the future seems daunting.
Right now, I consider how it feels to know I’m different. On the outside, it seems like I am not different to anyone else. There are no physical implications of my labelled difference. And yet I wonder what the benefits of this are. Are there any benefits to being cursed with a silent disease that determines your present and future health? Are there positives to the fact that along with my family and immediate friends, I am living with this disease in silence? Obviously, I would not like to be brandishing the information for everyone to hear and know. I am not looking for sympathy. I am just making people aware of the worries and battles many of us may be struggling with on a daily basis. We never know what another person may be facing. I look at my mam, one of the strongest, bravest 50 year old women I know, and with her insight, I am comforted with the fact that I will always aim to have as much strength and compassion that she does. She not only feels responsible, but also guilt at the fact that she has passed this on. But we do not have a choice in our genetic make-up. We do not get to choose what characteristics are expressed from our gene pool, yet can only hope that through respect, humility and positivity, the best side of us is brought out.
Recently we did an assignment on what value we would teach to children in the primary school classroom. Little did I realise the apt nature of the one I chose- courage. Life is fragile and unpredictable. Life is a journey and it is unknown what lies ahead. Yet, the necessity of courage is evident in all our lives, from toddler to grandparent. WE never know what bowling ball may be chasing you, or what challenges lie around the corner. However, life can test ‘not just the nature of kindness, but the nature of one’s kindness. The strength of one’s courage.’ A primary school novel has taught me how ‘Courage. Friendship. Kindness. Character. These are the qualities that define us as human beings, and propel us, on occasion, to greatness.’
We embrace difference in our modern era. We celebrate difference in the classroom, in society and around the world. However, sometimes I feel we need to pause and examine difference and the effects it can have. I am different. I am unique. I am aware of the challenges that lie ahead. Will I let it define me? I will. I will allow it take part in my life, but only however I dictate. I will have the courage to take control of this in my life and choose to live with the possibilities, eventualities and the endless worries that come along with it. Yet, it is the courage to continue that counts.
On the 20th October, I was diagnosed with Loeys-Dietz. I am aware of the effects and I am aware of the hindrances. Yet I would not change my genetic makeup for the world. I am me. A different journey than imagined now lies ahead of me. I have watched the impact Loeys-Dietz Syndrome has had on my Mam over the past 3 years and I have read the many tear-jerking stories of others. I am anxious for what lies ahead of me. However, with a great family and friend support network and the constant research being completed I know that it is the courage to continue that counts.