Loeys-Dietz Syndrome: Patient Voices

One of the most devastating aspects of having a rare disease is that all too often patients feel alone and isolated. Loeys-Dietz Syndrome (LDS) patients are not exempt from this. Their voices are cut short because others have never heard of their disease and therefore cannot understand the impacts that Loeys-Dietz Syndrome has on them. Awareness and understanding should never be taken for granted. A doctor’s awareness of  a disease can save a life and a friend’s awareness can offer comfort. Here are a few patients who are willing to offer insights on how LDS has affected them in hopes that maybe others can better understand:

“LDS sucks. You are constantly worrying if you really just have the flu or if you’re dying.” -Crystal, mother of 5 year old Xaviar,  TGFBR1 mutation

“Frustrated and exasperated! I’ve already been diagnosed with LDS, an aortic root aneurysm, stomach aneurysms, and an iliac aneursym.” -Monica, TGFBR1 mutation

“My wife passed away in 2003 before it was diagnosed as LDS and my daughter has been diagnosed with LDS type 1 and had aortic root replaced and aortic valve repaired in Nov. 2014. [She] had a left vertebral artery stint May 2015.” -Alan, TGFBR1 mutation

“LDS doesn’t just effect our hearts physically, it also emotionally tears our hurts apart because it takes our loved ones from us.” Amanda, TGFBR1 mutation

“Inheritance sounds better at the lawyers office than the doctors office.”…”From one of my Drs several years ago, ‘Why do you insist you have something? You are fine. You don’t have anything but nerves.'” -Elizabeth, SMAD3 mutation

“Heart surgery at some point to repair aneurysms -often multiple surgeries – is a given with Loeys-Dietz patients. I had my first heart surgery on June 23rd, 2015. I had a 5 inch section of my aorta replaced and my aortic root replaced with a mechanical one. Now, for the rest of my life, I have to take blood thinners. I’m 31 years old.” – Amanda, TGFBR2 mutation

“My son Simon was born in 1991 and was diagnosed with LDS in 2012. The diagnosis was a coincidence after investigations when an aneurysm of the aorta was found during his pectus bar operation. Simon was at first shocked. He expected that Loeys-Dietz would be excluded…. He lives his life. He is a great son.” -Karin, mother of Simon, TGBFR1 mutation (translated to English)

 

LDS Heart

We are LDS Strong!

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

w

Connecting to %s