Written by: Amiel Buning
“You Have it”.
After months of waiting for an official diagnosis, my results were given to me through these three life-changing words.
“You Have it”.
“As expected, based on the results of your genetic testing and CHEO blood sample, you are in fact positive for the SMAD-3 variant of LDS”. – My Genetic Counsellor
“You Have it”.
Even years after receiving my official test results, these three words still haunt me to this day. Similar to mainstream media’s portrayal of receiving bad news (ex. the cup falling in slow motion, the parent brought down to their knees, etc.) everything moved in slow motion. The genetic counselor’s voice coming out of the phone combined with my attempt to understand medical jargon both felt like molasses. Hit with multiple emotions at once (fear, anxiety, confusion), I was unable to make sense of the official report laid out in front of me and come to terms with what these three words truly signified.
“You Have it”.
As I trace back my thoughts to October 28, 2021, 9:59am, I can safely say that my brain shut down. Perhaps as a defence mechanism or a trauma response to a life changing diagnosis, I tried my best to interpret the words on my official report titled “CHEO Departments of Pathology, Laboratory Medicine and Genetics, Patient: Buning, Amiel”. Stylized as a research paper and written in a font akin to that of a typewriter, this report translated as: “overwhelming and outdated” in my mind. What began as a quick Google Search of LDS, finding The Church of Jesus Christ of Latter-Day Saints led to a path of becoming an official member of the LDS club.
“You Have it”.
For a while, I had a sneaking suspicion that I fell into this patient directory. Not only was it prominent in my father’s side of the family, but I also had the same physical build as my dad. And while I was only made aware of LDS recently in 2020, it was only a matter of time until I shared the same fate as him. Destined to live a life filled with doctor’s appointments, physical check-ups (i.e., yearly MRIs), surgeries and overall physical and psychological struggles, I knew at that moment my life would never be the same.
“You Have it”.
For some patients, they say “waiting is the hardest part” of receiving a medical diagnosis. But I disagree. Given my personal experience, it’s that exact moment of knowing your life will never be the same. That grief you feel for your own body who has to endure countless changes. The initial loss of freedom you encounter as you alter your daily activity. The overall transition of “finding a new normal” in changing your diet, occupation, and lifestyle. It is difficult to put into words just as much as it is difficult to experience. However, if you are reading this blog post, and have read up to this point, just know that you are not alone. As part of a new support initiative, and with my intention to ease this tough transition, the Loeys-Dietz Syndrome Foundation Canada (LDSFC) is putting together a support group for LDS patients in Canada. Inspired by my own series of events, I want to help others move past the molasses, understand the black stylized font, and walk hand-in-hand on entering the LDS world. The faster we can process the information given, the faster we can improve our mindset about the situation. While we can’t control the genetic lottery, we can control our reactions, our personal environments, and our course of action to respond to these difficulties.
For more resources on coping with an official diagnosis, see the LDSFC website as well as these recommended articles.
~LDSFC Peer Support Groups~
Monthly support group registration form
~Riding the Wave of Emotions ~
MayoClinic Health System – 8 tips for coping with a serious diagnosis
HelpGuide.Org – Coping with a Life-Threatening Illness or Serious Health Event
~ Awaiting Test Results? Tips on How to Manage Your Emotions ~
Verywell Health – Navigating your Diagnosis
St Jude Children’s Research Hospital –Waiting on Test Results: How to Manage Scanxiety